Incidental Mutation 'R1991:Cacna1b'
ID |
225063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacna1b
|
Ensembl Gene |
ENSMUSG00000004113 |
Gene Name |
calcium channel, voltage-dependent, N type, alpha 1B subunit |
Synonyms |
alpha(1B), Cav2.2, Cchn1a |
MMRRC Submission |
040002-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1991 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
24493899-24653164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24622318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 222
(P222L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041342]
[ENSMUST00000070864]
[ENSMUST00000100348]
[ENSMUST00000102939]
[ENSMUST00000114447]
|
AlphaFold |
O55017 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041342
AA Change: P222L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037416 Gene: ENSMUSG00000004113 AA Change: P222L
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
133 |
355 |
1.2e-57 |
PFAM |
PDB:4DEX|B
|
358 |
467 |
8e-66 |
PDB |
Pfam:Ion_trans
|
516 |
708 |
1.1e-47 |
PFAM |
Pfam:PKD_channel
|
569 |
715 |
2.3e-7 |
PFAM |
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
low complexity region
|
849 |
858 |
N/A |
INTRINSIC |
low complexity region
|
903 |
913 |
N/A |
INTRINSIC |
low complexity region
|
916 |
933 |
N/A |
INTRINSIC |
low complexity region
|
1091 |
1102 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1174 |
1408 |
2.7e-52 |
PFAM |
Pfam:Ion_trans
|
1498 |
1698 |
1.2e-59 |
PFAM |
Pfam:PKD_channel
|
1551 |
1705 |
8.1e-9 |
PFAM |
Ca_chan_IQ
|
1837 |
1871 |
1.09e-11 |
SMART |
low complexity region
|
2040 |
2050 |
N/A |
INTRINSIC |
low complexity region
|
2092 |
2114 |
N/A |
INTRINSIC |
low complexity region
|
2276 |
2292 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070864
AA Change: P222L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063236 Gene: ENSMUSG00000004113 AA Change: P222L
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
133 |
355 |
1.4e-57 |
PFAM |
PDB:4DEX|B
|
358 |
467 |
8e-66 |
PDB |
Pfam:Ion_trans
|
516 |
708 |
1.2e-47 |
PFAM |
Pfam:PKD_channel
|
569 |
715 |
1.5e-7 |
PFAM |
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
low complexity region
|
848 |
857 |
N/A |
INTRINSIC |
low complexity region
|
902 |
912 |
N/A |
INTRINSIC |
low complexity region
|
915 |
932 |
N/A |
INTRINSIC |
low complexity region
|
1090 |
1101 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1173 |
1403 |
1.8e-52 |
PFAM |
Pfam:Ion_trans
|
1493 |
1695 |
5.4e-60 |
PFAM |
Pfam:PKD_channel
|
1544 |
1702 |
4.9e-9 |
PFAM |
Ca_chan_IQ
|
1798 |
1832 |
7.2e-12 |
SMART |
low complexity region
|
2001 |
2011 |
N/A |
INTRINSIC |
low complexity region
|
2053 |
2075 |
N/A |
INTRINSIC |
low complexity region
|
2237 |
2253 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100348
AA Change: P222L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097920 Gene: ENSMUSG00000004113 AA Change: P222L
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
133 |
355 |
1.4e-57 |
PFAM |
PDB:4DEX|B
|
358 |
468 |
5e-68 |
PDB |
Pfam:Ion_trans
|
517 |
709 |
1.2e-47 |
PFAM |
Pfam:PKD_channel
|
570 |
716 |
1.6e-7 |
PFAM |
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
low complexity region
|
850 |
859 |
N/A |
INTRINSIC |
low complexity region
|
904 |
914 |
N/A |
INTRINSIC |
low complexity region
|
917 |
934 |
N/A |
INTRINSIC |
low complexity region
|
1092 |
1103 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1175 |
1409 |
3.2e-52 |
PFAM |
Pfam:Ion_trans
|
1499 |
1699 |
1.4e-59 |
PFAM |
Pfam:PKD_channel
|
1552 |
1706 |
5.6e-9 |
PFAM |
Ca_chan_IQ
|
1838 |
1872 |
1.09e-11 |
SMART |
low complexity region
|
2041 |
2051 |
N/A |
INTRINSIC |
low complexity region
|
2093 |
2115 |
N/A |
INTRINSIC |
low complexity region
|
2277 |
2293 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102939
AA Change: P222L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100003 Gene: ENSMUSG00000004113 AA Change: P222L
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
133 |
355 |
1.4e-57 |
PFAM |
PDB:4DEX|B
|
358 |
467 |
1e-65 |
PDB |
Pfam:Ion_trans
|
516 |
708 |
1.2e-47 |
PFAM |
Pfam:PKD_channel
|
569 |
715 |
1.6e-7 |
PFAM |
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
low complexity region
|
849 |
858 |
N/A |
INTRINSIC |
low complexity region
|
903 |
913 |
N/A |
INTRINSIC |
low complexity region
|
916 |
933 |
N/A |
INTRINSIC |
low complexity region
|
1091 |
1102 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1174 |
1404 |
1.9e-52 |
PFAM |
Pfam:Ion_trans
|
1494 |
1696 |
5.5e-60 |
PFAM |
Pfam:PKD_channel
|
1545 |
1703 |
5e-9 |
PFAM |
Ca_chan_IQ
|
1835 |
1869 |
1.09e-11 |
SMART |
low complexity region
|
2038 |
2048 |
N/A |
INTRINSIC |
low complexity region
|
2090 |
2112 |
N/A |
INTRINSIC |
low complexity region
|
2274 |
2290 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114447
AA Change: P222L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110090 Gene: ENSMUSG00000004113 AA Change: P222L
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
94 |
367 |
8.5e-69 |
PFAM |
Pfam:Ion_trans
|
482 |
721 |
2.4e-57 |
PFAM |
Pfam:PKD_channel
|
571 |
715 |
1e-7 |
PFAM |
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
low complexity region
|
850 |
859 |
N/A |
INTRINSIC |
low complexity region
|
904 |
914 |
N/A |
INTRINSIC |
low complexity region
|
917 |
934 |
N/A |
INTRINSIC |
low complexity region
|
1092 |
1103 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1139 |
1421 |
1.3e-62 |
PFAM |
Pfam:Ion_trans
|
1464 |
1711 |
3.2e-64 |
PFAM |
Pfam:PKD_channel
|
1550 |
1706 |
2.7e-9 |
PFAM |
Pfam:GPHH
|
1713 |
1783 |
1.9e-39 |
PFAM |
Ca_chan_IQ
|
1838 |
1872 |
1.09e-11 |
SMART |
low complexity region
|
2041 |
2051 |
N/A |
INTRINSIC |
low complexity region
|
2093 |
2115 |
N/A |
INTRINSIC |
low complexity region
|
2277 |
2293 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9272 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (124/124) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] PHENOTYPE: Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 123 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,771,419 (GRCm39) |
R203* |
probably null |
Het |
Abcc2 |
A |
T |
19: 43,795,581 (GRCm39) |
I446F |
probably damaging |
Het |
Afap1l2 |
A |
T |
19: 56,990,699 (GRCm39) |
I18N |
possibly damaging |
Het |
Aida |
A |
T |
1: 183,094,627 (GRCm39) |
E107D |
probably benign |
Het |
Amer2 |
A |
G |
14: 60,617,269 (GRCm39) |
Y362C |
probably damaging |
Het |
Amigo1 |
T |
C |
3: 108,094,644 (GRCm39) |
S48P |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,187,561 (GRCm39) |
K50R |
possibly damaging |
Het |
Anxa2 |
A |
T |
9: 69,391,098 (GRCm39) |
D95V |
probably damaging |
Het |
Arhgap22 |
A |
G |
14: 33,088,916 (GRCm39) |
N466D |
probably damaging |
Het |
Armc3 |
T |
C |
2: 19,297,953 (GRCm39) |
Y575H |
probably damaging |
Het |
Ascc2 |
A |
G |
11: 4,629,257 (GRCm39) |
E523G |
probably benign |
Het |
B3galt5 |
A |
T |
16: 96,117,225 (GRCm39) |
K286M |
probably damaging |
Het |
Bag3 |
C |
T |
7: 128,147,407 (GRCm39) |
H341Y |
probably benign |
Het |
Blm |
G |
T |
7: 80,155,697 (GRCm39) |
|
probably null |
Het |
Cap2 |
T |
A |
13: 46,791,357 (GRCm39) |
Y175N |
possibly damaging |
Het |
Cd81 |
G |
T |
7: 142,620,938 (GRCm39) |
G206* |
probably null |
Het |
Cep290 |
T |
A |
10: 100,367,046 (GRCm39) |
S1132R |
possibly damaging |
Het |
Cluh |
C |
A |
11: 74,550,355 (GRCm39) |
C222* |
probably null |
Het |
Col14a1 |
A |
T |
15: 55,313,336 (GRCm39) |
D1320V |
unknown |
Het |
Col18a1 |
T |
C |
10: 76,916,988 (GRCm39) |
I114V |
unknown |
Het |
Cped1 |
A |
G |
6: 22,233,926 (GRCm39) |
T847A |
probably damaging |
Het |
Cpne7 |
A |
G |
8: 123,854,176 (GRCm39) |
K288E |
possibly damaging |
Het |
Cr2 |
G |
A |
1: 194,836,458 (GRCm39) |
P1278S |
possibly damaging |
Het |
Creb3 |
C |
A |
4: 43,565,327 (GRCm39) |
R202S |
probably damaging |
Het |
Cyp2j9 |
T |
A |
4: 96,460,201 (GRCm39) |
K434M |
probably damaging |
Het |
Dnai3 |
G |
T |
3: 145,769,235 (GRCm39) |
T522K |
possibly damaging |
Het |
Dpp10 |
A |
T |
1: 123,832,833 (GRCm39) |
V48E |
probably null |
Het |
Dsg2 |
A |
G |
18: 20,734,530 (GRCm39) |
K836R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,229,339 (GRCm39) |
T1986A |
probably benign |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Ecm2 |
A |
G |
13: 49,683,732 (GRCm39) |
D570G |
probably benign |
Het |
Efhc1 |
T |
A |
1: 21,059,784 (GRCm39) |
C611* |
probably null |
Het |
Epop |
T |
C |
11: 97,519,480 (GRCm39) |
T210A |
probably benign |
Het |
Erc2 |
A |
G |
14: 27,733,593 (GRCm39) |
I556V |
probably benign |
Het |
Fdxacb1 |
A |
T |
9: 50,682,946 (GRCm39) |
N101I |
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,709,473 (GRCm39) |
S294G |
possibly damaging |
Het |
Galnt16 |
A |
G |
12: 80,630,430 (GRCm39) |
D262G |
probably damaging |
Het |
Gorab |
A |
G |
1: 163,224,625 (GRCm39) |
S59P |
probably damaging |
Het |
Gpr161 |
G |
T |
1: 165,134,132 (GRCm39) |
M131I |
probably damaging |
Het |
Gpr22 |
T |
A |
12: 31,759,202 (GRCm39) |
M270L |
probably benign |
Het |
Grin3b |
C |
A |
10: 79,806,746 (GRCm39) |
Q5K |
probably benign |
Het |
Grin3b |
C |
T |
10: 79,810,480 (GRCm39) |
A662V |
probably damaging |
Het |
Gsdmc |
A |
G |
15: 63,673,748 (GRCm39) |
I179T |
probably benign |
Het |
Gsdmc2 |
T |
A |
15: 63,700,086 (GRCm39) |
M229L |
probably benign |
Het |
H2-Eb2 |
A |
G |
17: 34,553,278 (GRCm39) |
I155V |
probably benign |
Het |
Hoga1 |
A |
C |
19: 42,048,459 (GRCm39) |
|
probably null |
Het |
Hs3st5 |
A |
G |
10: 36,708,882 (GRCm39) |
Y139C |
probably damaging |
Het |
Il10ra |
C |
A |
9: 45,167,109 (GRCm39) |
A481S |
probably benign |
Het |
Ints2 |
T |
A |
11: 86,139,760 (GRCm39) |
H278L |
possibly damaging |
Het |
Kalrn |
T |
G |
16: 33,796,108 (GRCm39) |
L1222F |
probably damaging |
Het |
Klhl25 |
T |
A |
7: 75,516,480 (GRCm39) |
V157D |
probably damaging |
Het |
Klk1b26 |
A |
T |
7: 43,666,324 (GRCm39) |
T256S |
probably damaging |
Het |
Krt81 |
T |
C |
15: 101,360,435 (GRCm39) |
Q184R |
probably benign |
Het |
Lce1k |
A |
T |
3: 92,714,125 (GRCm39) |
C20S |
unknown |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lin54 |
A |
G |
5: 100,633,660 (GRCm39) |
|
probably null |
Het |
Lrrc37a |
T |
C |
11: 103,391,087 (GRCm39) |
E1446G |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,350,488 (GRCm39) |
S3792P |
probably damaging |
Het |
Manba |
T |
A |
3: 135,256,952 (GRCm39) |
D538E |
probably benign |
Het |
Mcc |
C |
A |
18: 44,624,382 (GRCm39) |
E213* |
probably null |
Het |
Mfap4 |
T |
C |
11: 61,376,633 (GRCm39) |
|
probably null |
Het |
Muc21 |
A |
T |
17: 35,929,600 (GRCm39) |
S1529T |
probably benign |
Het |
Nebl |
T |
A |
2: 17,457,321 (GRCm39) |
I80F |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,678,910 (GRCm39) |
I145V |
probably damaging |
Het |
Nlrp14 |
T |
C |
7: 106,795,407 (GRCm39) |
V230A |
probably benign |
Het |
Nxf3 |
G |
A |
X: 134,976,583 (GRCm39) |
P380S |
possibly damaging |
Het |
Or11h6 |
G |
A |
14: 50,880,323 (GRCm39) |
C195Y |
possibly damaging |
Het |
Or1a1 |
T |
C |
11: 74,086,989 (GRCm39) |
V220A |
probably damaging |
Het |
Or5b99 |
T |
C |
19: 12,976,866 (GRCm39) |
V172A |
possibly damaging |
Het |
Or5p66 |
C |
A |
7: 107,885,566 (GRCm39) |
G256* |
probably null |
Het |
Or6k8-ps1 |
C |
T |
1: 173,979,687 (GRCm39) |
H202Y |
probably damaging |
Het |
Pcdhb13 |
C |
T |
18: 37,576,912 (GRCm39) |
T430I |
possibly damaging |
Het |
Piezo2 |
A |
T |
18: 63,207,733 (GRCm39) |
L1426Q |
probably null |
Het |
Pigk |
T |
A |
3: 152,450,131 (GRCm39) |
Y212N |
probably damaging |
Het |
Pigm |
T |
G |
1: 172,204,828 (GRCm39) |
L188R |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,766,368 (GRCm39) |
F2117S |
probably damaging |
Het |
Plec |
A |
G |
15: 76,057,743 (GRCm39) |
F4055L |
probably damaging |
Het |
Plk5 |
C |
T |
10: 80,198,936 (GRCm39) |
S435L |
possibly damaging |
Het |
Pms1 |
G |
A |
1: 53,321,201 (GRCm39) |
L11F |
probably damaging |
Het |
Prl3b1 |
C |
T |
13: 27,431,895 (GRCm39) |
T140I |
possibly damaging |
Het |
Prl7a1 |
T |
G |
13: 27,817,655 (GRCm39) |
D203A |
probably damaging |
Het |
Psg17 |
A |
G |
7: 18,548,577 (GRCm39) |
V398A |
probably benign |
Het |
Pum1 |
T |
A |
4: 130,445,529 (GRCm39) |
I166K |
possibly damaging |
Het |
R3hdm1 |
T |
A |
1: 128,096,753 (GRCm39) |
D108E |
probably damaging |
Het |
Reln |
A |
T |
5: 22,174,358 (GRCm39) |
D1948E |
possibly damaging |
Het |
Rnf112 |
C |
T |
11: 61,343,252 (GRCm39) |
R141Q |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,452,293 (GRCm39) |
V424A |
possibly damaging |
Het |
Serpina3m |
C |
A |
12: 104,355,958 (GRCm39) |
Y208* |
probably null |
Het |
Serpind1 |
T |
C |
16: 17,160,808 (GRCm39) |
V446A |
probably benign |
Het |
Shc3 |
T |
A |
13: 51,596,872 (GRCm39) |
M384L |
probably benign |
Het |
Slc38a11 |
A |
G |
2: 65,160,683 (GRCm39) |
F304L |
probably benign |
Het |
Slpi |
C |
T |
2: 164,197,463 (GRCm39) |
C28Y |
probably damaging |
Het |
Specc1 |
C |
A |
11: 61,920,120 (GRCm39) |
P7T |
possibly damaging |
Het |
Spib |
T |
C |
7: 44,178,281 (GRCm39) |
E180G |
probably benign |
Het |
Spint5 |
T |
C |
2: 164,558,903 (GRCm39) |
|
probably benign |
Het |
Ssr2 |
T |
A |
3: 88,484,174 (GRCm39) |
|
probably benign |
Het |
Tbrg1 |
T |
C |
9: 37,560,715 (GRCm39) |
D387G |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,440,296 (GRCm39) |
L1367R |
probably damaging |
Het |
Tfpi |
A |
C |
2: 84,288,360 (GRCm39) |
|
probably benign |
Het |
Tlr5 |
T |
A |
1: 182,801,912 (GRCm39) |
D405E |
probably damaging |
Het |
Tnnt3 |
C |
T |
7: 142,065,262 (GRCm39) |
R131C |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,890,878 (GRCm39) |
V407A |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,901,225 (GRCm39) |
Y1013C |
probably damaging |
Het |
Tpx2 |
T |
A |
2: 152,732,544 (GRCm39) |
M606K |
probably benign |
Het |
Trim30a |
T |
A |
7: 104,079,437 (GRCm39) |
|
probably benign |
Het |
Trim46 |
A |
T |
3: 89,145,008 (GRCm39) |
Y489N |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,773,648 (GRCm39) |
H380L |
probably benign |
Het |
Tstd2 |
A |
G |
4: 46,120,563 (GRCm39) |
I279T |
probably benign |
Het |
Ttn |
C |
T |
2: 76,776,735 (GRCm39) |
|
probably null |
Het |
Txnl1 |
T |
C |
18: 63,812,585 (GRCm39) |
T70A |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,310,729 (GRCm39) |
|
probably benign |
Het |
Usp1 |
A |
G |
4: 98,822,531 (GRCm39) |
D615G |
probably benign |
Het |
Virma |
T |
A |
4: 11,519,242 (GRCm39) |
C830S |
probably benign |
Het |
Vmn1r7 |
A |
T |
6: 57,001,853 (GRCm39) |
S136T |
probably benign |
Het |
Vmn2r9 |
A |
G |
5: 108,994,305 (GRCm39) |
V448A |
probably damaging |
Het |
Vps11 |
G |
A |
9: 44,270,524 (GRCm39) |
H183Y |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,116,892 (GRCm39) |
T476A |
possibly damaging |
Het |
Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
Wnt8a |
A |
G |
18: 34,677,937 (GRCm39) |
D115G |
probably damaging |
Het |
Xndc1 |
T |
A |
7: 101,722,398 (GRCm39) |
V21E |
probably damaging |
Het |
Zc3hav1 |
C |
A |
6: 38,313,452 (GRCm39) |
V198L |
probably damaging |
Het |
Zfp874a |
T |
A |
13: 67,590,623 (GRCm39) |
I354F |
probably benign |
Het |
Zfr2 |
A |
T |
10: 81,078,686 (GRCm39) |
D306V |
possibly damaging |
Het |
|
Other mutations in Cacna1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Cacna1b
|
APN |
2 |
24,541,212 (GRCm39) |
nonsense |
probably null |
|
IGL00508:Cacna1b
|
APN |
2 |
24,547,301 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01085:Cacna1b
|
APN |
2 |
24,569,006 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01310:Cacna1b
|
APN |
2 |
24,575,794 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01361:Cacna1b
|
APN |
2 |
24,569,107 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01471:Cacna1b
|
APN |
2 |
24,547,304 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01537:Cacna1b
|
APN |
2 |
24,548,540 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01547:Cacna1b
|
APN |
2 |
24,522,047 (GRCm39) |
unclassified |
probably benign |
|
IGL01750:Cacna1b
|
APN |
2 |
24,544,407 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01813:Cacna1b
|
APN |
2 |
24,499,902 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01939:Cacna1b
|
APN |
2 |
24,551,769 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01955:Cacna1b
|
APN |
2 |
24,529,149 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01972:Cacna1b
|
APN |
2 |
24,525,107 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01987:Cacna1b
|
APN |
2 |
24,587,579 (GRCm39) |
splice site |
probably null |
|
IGL02096:Cacna1b
|
APN |
2 |
24,568,927 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02111:Cacna1b
|
APN |
2 |
24,497,003 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02254:Cacna1b
|
APN |
2 |
24,506,827 (GRCm39) |
splice site |
probably null |
|
IGL03084:Cacna1b
|
APN |
2 |
24,499,944 (GRCm39) |
missense |
probably benign |
|
IGL03184:Cacna1b
|
APN |
2 |
24,548,501 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03202:Cacna1b
|
APN |
2 |
24,541,124 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03210:Cacna1b
|
APN |
2 |
24,540,584 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03402:Cacna1b
|
APN |
2 |
24,652,821 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4283001:Cacna1b
|
UTSW |
2 |
24,521,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Cacna1b
|
UTSW |
2 |
24,648,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Cacna1b
|
UTSW |
2 |
24,648,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R0206:Cacna1b
|
UTSW |
2 |
24,497,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R0208:Cacna1b
|
UTSW |
2 |
24,497,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Cacna1b
|
UTSW |
2 |
24,528,669 (GRCm39) |
unclassified |
probably benign |
|
R0265:Cacna1b
|
UTSW |
2 |
24,651,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R0352:Cacna1b
|
UTSW |
2 |
24,515,244 (GRCm39) |
intron |
probably benign |
|
R0376:Cacna1b
|
UTSW |
2 |
24,549,015 (GRCm39) |
splice site |
probably benign |
|
R0383:Cacna1b
|
UTSW |
2 |
24,651,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R0432:Cacna1b
|
UTSW |
2 |
24,577,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R0595:Cacna1b
|
UTSW |
2 |
24,540,001 (GRCm39) |
splice site |
probably benign |
|
R0660:Cacna1b
|
UTSW |
2 |
24,544,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R0664:Cacna1b
|
UTSW |
2 |
24,544,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R1107:Cacna1b
|
UTSW |
2 |
24,587,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R1184:Cacna1b
|
UTSW |
2 |
24,577,757 (GRCm39) |
splice site |
probably null |
|
R1445:Cacna1b
|
UTSW |
2 |
24,608,148 (GRCm39) |
splice site |
probably benign |
|
R1446:Cacna1b
|
UTSW |
2 |
24,596,189 (GRCm39) |
missense |
probably benign |
0.01 |
R1496:Cacna1b
|
UTSW |
2 |
24,568,047 (GRCm39) |
missense |
probably benign |
|
R1614:Cacna1b
|
UTSW |
2 |
24,580,819 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1626:Cacna1b
|
UTSW |
2 |
24,496,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R1917:Cacna1b
|
UTSW |
2 |
24,506,891 (GRCm39) |
missense |
probably null |
0.80 |
R1984:Cacna1b
|
UTSW |
2 |
24,538,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R1986:Cacna1b
|
UTSW |
2 |
24,538,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R1989:Cacna1b
|
UTSW |
2 |
24,611,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Cacna1b
|
UTSW |
2 |
24,622,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Cacna1b
|
UTSW |
2 |
24,622,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R2098:Cacna1b
|
UTSW |
2 |
24,540,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R2139:Cacna1b
|
UTSW |
2 |
24,569,485 (GRCm39) |
missense |
probably benign |
0.07 |
R2196:Cacna1b
|
UTSW |
2 |
24,651,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R2229:Cacna1b
|
UTSW |
2 |
24,575,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R2292:Cacna1b
|
UTSW |
2 |
24,496,632 (GRCm39) |
missense |
probably benign |
0.01 |
R2570:Cacna1b
|
UTSW |
2 |
24,496,649 (GRCm39) |
nonsense |
probably null |
|
R2850:Cacna1b
|
UTSW |
2 |
24,651,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R2911:Cacna1b
|
UTSW |
2 |
24,497,553 (GRCm39) |
splice site |
probably null |
|
R2937:Cacna1b
|
UTSW |
2 |
24,496,540 (GRCm39) |
missense |
probably benign |
0.00 |
R2938:Cacna1b
|
UTSW |
2 |
24,496,540 (GRCm39) |
missense |
probably benign |
0.00 |
R3522:Cacna1b
|
UTSW |
2 |
24,653,055 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3800:Cacna1b
|
UTSW |
2 |
24,548,971 (GRCm39) |
missense |
probably benign |
0.15 |
R4166:Cacna1b
|
UTSW |
2 |
24,567,923 (GRCm39) |
missense |
probably benign |
0.32 |
R4300:Cacna1b
|
UTSW |
2 |
24,525,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R4366:Cacna1b
|
UTSW |
2 |
24,592,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R4493:Cacna1b
|
UTSW |
2 |
24,542,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R4494:Cacna1b
|
UTSW |
2 |
24,542,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R4522:Cacna1b
|
UTSW |
2 |
24,544,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R4612:Cacna1b
|
UTSW |
2 |
24,516,864 (GRCm39) |
nonsense |
probably null |
|
R4673:Cacna1b
|
UTSW |
2 |
24,521,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R4703:Cacna1b
|
UTSW |
2 |
24,544,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R4704:Cacna1b
|
UTSW |
2 |
24,544,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Cacna1b
|
UTSW |
2 |
24,622,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Cacna1b
|
UTSW |
2 |
24,527,499 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4796:Cacna1b
|
UTSW |
2 |
24,527,499 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4962:Cacna1b
|
UTSW |
2 |
24,547,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R4962:Cacna1b
|
UTSW |
2 |
24,508,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R4974:Cacna1b
|
UTSW |
2 |
24,538,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R4990:Cacna1b
|
UTSW |
2 |
24,568,886 (GRCm39) |
critical splice donor site |
probably null |
|
R5109:Cacna1b
|
UTSW |
2 |
24,580,797 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5117:Cacna1b
|
UTSW |
2 |
24,622,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R5176:Cacna1b
|
UTSW |
2 |
24,525,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R5253:Cacna1b
|
UTSW |
2 |
24,609,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R5372:Cacna1b
|
UTSW |
2 |
24,623,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R5374:Cacna1b
|
UTSW |
2 |
24,596,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R5465:Cacna1b
|
UTSW |
2 |
24,540,438 (GRCm39) |
critical splice donor site |
probably null |
|
R5568:Cacna1b
|
UTSW |
2 |
24,497,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Cacna1b
|
UTSW |
2 |
24,540,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Cacna1b
|
UTSW |
2 |
24,569,370 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6277:Cacna1b
|
UTSW |
2 |
24,620,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R6294:Cacna1b
|
UTSW |
2 |
24,609,069 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6609:Cacna1b
|
UTSW |
2 |
24,543,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R6929:Cacna1b
|
UTSW |
2 |
24,522,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R7016:Cacna1b
|
UTSW |
2 |
24,652,860 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7112:Cacna1b
|
UTSW |
2 |
24,580,773 (GRCm39) |
missense |
probably damaging |
0.97 |
R7162:Cacna1b
|
UTSW |
2 |
24,590,034 (GRCm39) |
missense |
probably benign |
0.06 |
R7401:Cacna1b
|
UTSW |
2 |
24,569,306 (GRCm39) |
missense |
probably benign |
0.00 |
R7402:Cacna1b
|
UTSW |
2 |
24,497,671 (GRCm39) |
missense |
probably benign |
0.21 |
R7442:Cacna1b
|
UTSW |
2 |
24,497,513 (GRCm39) |
missense |
probably benign |
|
R7450:Cacna1b
|
UTSW |
2 |
24,525,147 (GRCm39) |
nonsense |
probably null |
|
R7481:Cacna1b
|
UTSW |
2 |
24,506,874 (GRCm39) |
missense |
probably damaging |
0.99 |
R7792:Cacna1b
|
UTSW |
2 |
24,567,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R7999:Cacna1b
|
UTSW |
2 |
24,540,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R8041:Cacna1b
|
UTSW |
2 |
24,547,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R8084:Cacna1b
|
UTSW |
2 |
24,575,808 (GRCm39) |
missense |
probably benign |
0.21 |
R8147:Cacna1b
|
UTSW |
2 |
24,569,188 (GRCm39) |
missense |
probably damaging |
0.97 |
R8170:Cacna1b
|
UTSW |
2 |
24,568,886 (GRCm39) |
critical splice donor site |
probably null |
|
R8371:Cacna1b
|
UTSW |
2 |
24,610,036 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8391:Cacna1b
|
UTSW |
2 |
24,596,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R8723:Cacna1b
|
UTSW |
2 |
24,548,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R8836:Cacna1b
|
UTSW |
2 |
24,542,982 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8856:Cacna1b
|
UTSW |
2 |
24,569,530 (GRCm39) |
missense |
probably benign |
0.00 |
R8922:Cacna1b
|
UTSW |
2 |
24,622,340 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8940:Cacna1b
|
UTSW |
2 |
24,653,084 (GRCm39) |
unclassified |
probably benign |
|
R9140:Cacna1b
|
UTSW |
2 |
24,525,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R9414:Cacna1b
|
UTSW |
2 |
24,538,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R9476:Cacna1b
|
UTSW |
2 |
24,540,058 (GRCm39) |
missense |
probably damaging |
0.99 |
R9510:Cacna1b
|
UTSW |
2 |
24,540,058 (GRCm39) |
missense |
probably damaging |
0.99 |
R9520:Cacna1b
|
UTSW |
2 |
24,651,799 (GRCm39) |
missense |
probably damaging |
0.97 |
R9566:Cacna1b
|
UTSW |
2 |
24,498,092 (GRCm39) |
nonsense |
probably null |
|
R9671:Cacna1b
|
UTSW |
2 |
24,596,282 (GRCm39) |
missense |
probably benign |
0.00 |
R9757:Cacna1b
|
UTSW |
2 |
24,609,113 (GRCm39) |
missense |
probably damaging |
0.99 |
R9784:Cacna1b
|
UTSW |
2 |
24,651,801 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9797:Cacna1b
|
UTSW |
2 |
24,508,287 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Cacna1b
|
UTSW |
2 |
24,623,957 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Cacna1b
|
UTSW |
2 |
24,551,856 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cacna1b
|
UTSW |
2 |
24,516,896 (GRCm39) |
nonsense |
probably null |
|
Z1177:Cacna1b
|
UTSW |
2 |
24,569,000 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Cacna1b
|
UTSW |
2 |
24,551,802 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cacna1b
|
UTSW |
2 |
24,528,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAGTTCTACTTTCTAGGTCTGGAAGC -3'
(R):5'- ATTCCCTGTCCCGAATTCAGG -3'
Sequencing Primer
(F):5'- ACTTTCTAGGTCTGGAAGCTCAGAAG -3'
(R):5'- GAATTCAGGCTCCCCACTTTCAG -3'
|
Posted On |
2014-08-25 |