Incidental Mutation 'R1990:Cacna1b'
ID |
224824 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1990 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
|
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: 97 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,771,419 (GRCm39) |
R203* |
probably null |
Het |
Acp6 |
T |
C |
3: 97,083,054 (GRCm39) |
L355P |
probably damaging |
Het |
Aebp2 |
T |
C |
6: 140,579,464 (GRCm39) |
S234P |
probably damaging |
Het |
Anapc7 |
A |
G |
5: 122,577,567 (GRCm39) |
D374G |
probably benign |
Het |
Apob |
A |
T |
12: 8,051,039 (GRCm39) |
I1088F |
probably damaging |
Het |
Arid4b |
T |
C |
13: 14,307,021 (GRCm39) |
V92A |
probably damaging |
Het |
Armc3 |
T |
C |
2: 19,297,953 (GRCm39) |
Y575H |
probably damaging |
Het |
Asxl2 |
G |
T |
12: 3,534,558 (GRCm39) |
G252* |
probably null |
Het |
Atl1 |
A |
T |
12: 70,010,102 (GRCm39) |
K556M |
probably damaging |
Het |
AU018091 |
A |
G |
7: 3,212,104 (GRCm39) |
V206A |
probably benign |
Het |
Bcas1 |
A |
T |
2: 170,212,397 (GRCm39) |
D383E |
possibly damaging |
Het |
Bmx |
A |
G |
X: 163,015,192 (GRCm39) |
W257R |
probably benign |
Het |
Bpifb6 |
T |
C |
2: 153,747,270 (GRCm39) |
|
probably null |
Het |
Cand1 |
A |
G |
10: 119,045,972 (GRCm39) |
S978P |
probably damaging |
Het |
Cap2 |
T |
A |
13: 46,791,357 (GRCm39) |
Y175N |
possibly damaging |
Het |
Caps2 |
G |
A |
10: 112,036,591 (GRCm39) |
A384T |
probably benign |
Het |
Catsperg2 |
A |
T |
7: 29,420,470 (GRCm39) |
Y223* |
probably null |
Het |
Cd81 |
G |
T |
7: 142,620,938 (GRCm39) |
G206* |
probably null |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdkn2aip |
G |
T |
8: 48,165,211 (GRCm39) |
N167K |
probably benign |
Het |
Ceacam14 |
T |
A |
7: 17,549,290 (GRCm39) |
L227* |
probably null |
Het |
Ceacam5 |
A |
T |
7: 17,491,805 (GRCm39) |
D725V |
probably damaging |
Het |
Cldn34a |
A |
T |
X: 151,346,841 (GRCm39) |
H171L |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,916,988 (GRCm39) |
I114V |
unknown |
Het |
Cp |
A |
G |
3: 20,033,177 (GRCm39) |
D667G |
probably damaging |
Het |
Cr2 |
G |
A |
1: 194,836,458 (GRCm39) |
P1278S |
possibly damaging |
Het |
Crat |
A |
G |
2: 30,295,060 (GRCm39) |
Y452H |
possibly damaging |
Het |
Cyp4f13 |
T |
A |
17: 33,144,542 (GRCm39) |
H318L |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,660,018 (GRCm39) |
N527S |
probably damaging |
Het |
Fcgbpl1 |
A |
T |
7: 27,853,785 (GRCm39) |
D1583V |
probably damaging |
Het |
Fgb |
G |
T |
3: 82,951,560 (GRCm39) |
Y256* |
probably null |
Het |
Frmd3 |
T |
A |
4: 74,105,676 (GRCm39) |
S441T |
probably damaging |
Het |
Glp1r |
T |
A |
17: 31,149,722 (GRCm39) |
C329S |
possibly damaging |
Het |
Gm14190 |
G |
T |
11: 99,581,431 (GRCm39) |
Q46K |
unknown |
Het |
Golt1b |
T |
A |
6: 142,338,080 (GRCm39) |
F17Y |
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 |
Gulp1 |
A |
C |
1: 44,805,274 (GRCm39) |
N121T |
possibly damaging |
Het |
Ift122 |
T |
A |
6: 115,901,328 (GRCm39) |
F1037I |
probably damaging |
Het |
Ildr1 |
A |
T |
16: 36,536,568 (GRCm39) |
Y199F |
probably damaging |
Het |
Ints2 |
T |
A |
11: 86,139,760 (GRCm39) |
H278L |
possibly damaging |
Het |
Invs |
T |
C |
4: 48,392,599 (GRCm39) |
V271A |
possibly damaging |
Het |
Kcnj2 |
T |
C |
11: 110,963,709 (GRCm39) |
I367T |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,089,508 (GRCm39) |
S1115P |
probably damaging |
Het |
Lce1k |
A |
T |
3: 92,714,125 (GRCm39) |
C20S |
unknown |
Het |
Lcmt2 |
C |
A |
2: 120,970,762 (GRCm39) |
R107L |
probably benign |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lrrc9 |
A |
C |
12: 72,544,635 (GRCm39) |
R71S |
probably damaging |
Het |
Mcc |
C |
A |
18: 44,624,382 (GRCm39) |
E213* |
probably null |
Het |
Mis18bp1 |
T |
C |
12: 65,205,468 (GRCm39) |
T235A |
probably benign |
Het |
Mta2 |
C |
T |
19: 8,919,696 (GRCm39) |
|
probably benign |
Het |
Nebl |
T |
A |
2: 17,457,321 (GRCm39) |
I80F |
probably damaging |
Het |
Nek10 |
A |
G |
14: 14,860,764 (GRCm38) |
T467A |
probably benign |
Het |
Nexn |
A |
T |
3: 151,958,576 (GRCm39) |
F106I |
probably damaging |
Het |
Nrdc |
T |
A |
4: 108,896,972 (GRCm39) |
Y282* |
probably null |
Het |
Nxf3 |
G |
A |
X: 134,976,583 (GRCm39) |
P380S |
possibly damaging |
Het |
Oma1 |
C |
T |
4: 103,178,971 (GRCm39) |
T208I |
probably damaging |
Het |
Or1a1 |
T |
C |
11: 74,086,989 (GRCm39) |
V220A |
probably damaging |
Het |
Or4c31 |
A |
G |
2: 88,291,686 (GRCm39) |
M1V |
probably null |
Het |
Or4d10c |
C |
A |
19: 12,065,620 (GRCm39) |
V179F |
probably damaging |
Het |
Or4p21 |
A |
G |
2: 88,277,033 (GRCm39) |
L83P |
probably damaging |
Het |
Or51a42 |
A |
T |
7: 103,708,335 (GRCm39) |
I158N |
possibly damaging |
Het |
Or52l1 |
A |
T |
7: 104,830,221 (GRCm39) |
C115S |
probably damaging |
Het |
Or5p66 |
C |
A |
7: 107,885,566 (GRCm39) |
G256* |
probably null |
Het |
Or5p70 |
A |
G |
7: 107,995,041 (GRCm39) |
Y238C |
probably benign |
Het |
Panx2 |
A |
T |
15: 88,953,941 (GRCm39) |
Y632F |
possibly damaging |
Het |
Pdia4 |
T |
C |
6: 47,773,589 (GRCm39) |
T587A |
probably benign |
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 |
Pramel22 |
T |
A |
4: 143,380,838 (GRCm39) |
Y395F |
probably damaging |
Het |
Prl3b1 |
C |
T |
13: 27,429,775 (GRCm39) |
T71I |
possibly damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,870,166 (GRCm39) |
E929G |
possibly damaging |
Het |
Rabl3 |
T |
C |
16: 37,384,079 (GRCm39) |
I162T |
probably benign |
Het |
Rasgrf2 |
T |
A |
13: 92,172,473 (GRCm39) |
T188S |
probably damaging |
Het |
Slc12a2 |
A |
G |
18: 58,043,358 (GRCm39) |
I601V |
possibly damaging |
Het |
Slc25a42 |
A |
T |
8: 70,644,519 (GRCm39) |
I60N |
probably benign |
Het |
Slc2a3 |
C |
T |
6: 122,713,694 (GRCm39) |
G173S |
probably damaging |
Het |
Slc46a3 |
G |
A |
5: 147,823,404 (GRCm39) |
T146M |
probably damaging |
Het |
Specc1 |
C |
A |
11: 61,920,120 (GRCm39) |
P7T |
possibly damaging |
Het |
Sptbn4 |
T |
C |
7: 27,123,235 (GRCm39) |
D229G |
probably benign |
Het |
Sspo |
T |
C |
6: 48,427,984 (GRCm39) |
I154T |
probably benign |
Het |
Stx5a |
T |
C |
19: 8,726,254 (GRCm39) |
|
probably null |
Het |
Stxbp6 |
A |
T |
12: 44,902,640 (GRCm39) |
C210* |
probably null |
Het |
Tagap1 |
C |
T |
17: 7,224,285 (GRCm39) |
R137Q |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,997,932 (GRCm39) |
Y1163C |
probably damaging |
Het |
Tex14 |
T |
G |
11: 87,440,296 (GRCm39) |
L1367R |
probably damaging |
Het |
Tnnt3 |
C |
T |
7: 142,065,262 (GRCm39) |
R131C |
possibly damaging |
Het |
Tpx2 |
T |
A |
2: 152,732,544 (GRCm39) |
M606K |
probably benign |
Het |
Trim46 |
A |
T |
3: 89,145,008 (GRCm39) |
Y489N |
probably damaging |
Het |
Ttc28 |
C |
T |
5: 111,424,188 (GRCm39) |
S1485L |
probably benign |
Het |
Txnl1 |
T |
C |
18: 63,812,585 (GRCm39) |
T70A |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,731,708 (GRCm39) |
L3053P |
probably damaging |
Het |
Wars1 |
G |
T |
12: 108,854,359 (GRCm39) |
N18K |
possibly damaging |
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 |
Zfp493 |
T |
A |
13: 67,934,388 (GRCm39) |
C114S |
probably 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 |
R1991: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 |