Incidental Mutation 'R1538:Cacna1e'
ID |
169647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacna1e
|
Ensembl Gene |
ENSMUSG00000004110 |
Gene Name |
calcium channel, voltage-dependent, R type, alpha 1E subunit |
Synonyms |
Cav2.3, Cchra1, alpha1E |
MMRRC Submission |
039577-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R1538 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
154266477-154760247 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 154437504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 344
(L344P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004214]
[ENSMUST00000187541]
[ENSMUST00000211821]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004214
AA Change: L36P
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000004214 Gene: ENSMUSG00000004110 AA Change: L36P
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
1 |
55 |
6.7e-10 |
PFAM |
Pfam:Ion_trans
|
168 |
407 |
3.3e-56 |
PFAM |
Pfam:PKD_channel
|
257 |
401 |
3.3e-7 |
PFAM |
low complexity region
|
409 |
414 |
N/A |
INTRINSIC |
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
low complexity region
|
496 |
514 |
N/A |
INTRINSIC |
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
coiled coil region
|
793 |
823 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
847 |
1128 |
2.3e-63 |
PFAM |
Pfam:Ion_trans
|
1172 |
1429 |
2.6e-65 |
PFAM |
Pfam:PKD_channel
|
1256 |
1424 |
2.8e-10 |
PFAM |
Pfam:GPHH
|
1431 |
1500 |
1.3e-37 |
PFAM |
Ca_chan_IQ
|
1555 |
1589 |
5.93e-13 |
SMART |
low complexity region
|
1701 |
1717 |
N/A |
INTRINSIC |
low complexity region
|
1729 |
1742 |
N/A |
INTRINSIC |
low complexity region
|
1764 |
1780 |
N/A |
INTRINSIC |
low complexity region
|
1789 |
1804 |
N/A |
INTRINSIC |
low complexity region
|
1808 |
1822 |
N/A |
INTRINSIC |
low complexity region
|
1832 |
1846 |
N/A |
INTRINSIC |
low complexity region
|
1867 |
1878 |
N/A |
INTRINSIC |
low complexity region
|
1936 |
1946 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187541
AA Change: L344P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140937 Gene: ENSMUSG00000004110 AA Change: L344P
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
128 |
351 |
8.5e-54 |
PFAM |
PDB:4DEX|B
|
354 |
462 |
6e-36 |
PDB |
Pfam:Ion_trans
|
511 |
703 |
2.2e-46 |
PFAM |
Pfam:PKD_channel
|
565 |
710 |
1.4e-6 |
PFAM |
low complexity region
|
717 |
722 |
N/A |
INTRINSIC |
low complexity region
|
763 |
777 |
N/A |
INTRINSIC |
low complexity region
|
804 |
822 |
N/A |
INTRINSIC |
low complexity region
|
912 |
928 |
N/A |
INTRINSIC |
low complexity region
|
934 |
948 |
N/A |
INTRINSIC |
coiled coil region
|
1101 |
1131 |
N/A |
INTRINSIC |
low complexity region
|
1162 |
1175 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1191 |
1425 |
4.3e-55 |
PFAM |
Pfam:Ion_trans
|
1515 |
1725 |
5.3e-60 |
PFAM |
Pfam:PKD_channel
|
1565 |
1732 |
4.7e-10 |
PFAM |
Ca_chan_IQ
|
1863 |
1897 |
5.93e-13 |
SMART |
low complexity region
|
2009 |
2025 |
N/A |
INTRINSIC |
low complexity region
|
2037 |
2050 |
N/A |
INTRINSIC |
low complexity region
|
2072 |
2088 |
N/A |
INTRINSIC |
low complexity region
|
2097 |
2112 |
N/A |
INTRINSIC |
low complexity region
|
2116 |
2130 |
N/A |
INTRINSIC |
low complexity region
|
2140 |
2154 |
N/A |
INTRINSIC |
low complexity region
|
2175 |
2186 |
N/A |
INTRINSIC |
low complexity region
|
2244 |
2254 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188965
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211821
AA Change: L282P
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes. Voltage-dependent calcium channels are multi-subunit complexes, comprised of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The isoform alpha-1E gives rise to R-type calcium currents and belongs to the high-voltage activated group. Calcium channels containing the alpha-1E subunit may be involved in the modulation of neuronal firing patterns, an important component of information processing. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response. [provided by MGI curators]
|
Allele List at MGI |
All alleles(7) : Targeted, knock-out(3) Targeted, other(3) Gene trapped(1) |
Other mutations in this stock |
Total: 104 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,771,162 (GRCm39) |
R117L |
probably benign |
Het |
4930447C04Rik |
G |
A |
12: 72,928,120 (GRCm39) |
A537V |
possibly damaging |
Het |
4930579F01Rik |
A |
C |
3: 137,889,517 (GRCm39) |
D33E |
probably damaging |
Het |
Acnat1 |
T |
C |
4: 49,447,835 (GRCm39) |
K249E |
possibly damaging |
Het |
Ankrd13a |
T |
C |
5: 114,942,295 (GRCm39) |
I526T |
possibly damaging |
Het |
Aplp1 |
C |
A |
7: 30,135,452 (GRCm39) |
E535D |
probably benign |
Het |
Armc8 |
T |
A |
9: 99,387,343 (GRCm39) |
H425L |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Asprv1 |
C |
T |
6: 86,605,618 (GRCm39) |
Q155* |
probably null |
Het |
Atl1 |
A |
G |
12: 69,972,962 (GRCm39) |
Q94R |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,595,440 (GRCm39) |
L970P |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,973,772 (GRCm39) |
M2514T |
probably benign |
Het |
Cacfd1 |
T |
A |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
Cacna2d2 |
C |
A |
9: 107,394,615 (GRCm39) |
R596S |
probably damaging |
Het |
Catip |
C |
A |
1: 74,403,811 (GRCm39) |
S176* |
probably null |
Het |
Cdcp1 |
G |
A |
9: 123,002,653 (GRCm39) |
S806L |
probably damaging |
Het |
Cdk6 |
A |
T |
5: 3,570,675 (GRCm39) |
I289L |
probably benign |
Het |
Cers3 |
C |
T |
7: 66,431,571 (GRCm39) |
T182I |
probably damaging |
Het |
Cfap46 |
T |
A |
7: 139,262,924 (GRCm39) |
N43I |
probably null |
Het |
Clec4n |
A |
T |
6: 123,206,992 (GRCm39) |
R5S |
possibly damaging |
Het |
Cnr2 |
G |
T |
4: 135,644,012 (GRCm39) |
S30I |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,907,170 (GRCm39) |
G870E |
probably damaging |
Het |
Cpne6 |
T |
C |
14: 55,752,677 (GRCm39) |
V289A |
possibly damaging |
Het |
Crym |
G |
A |
7: 119,796,938 (GRCm39) |
L141F |
probably benign |
Het |
Cxxc5 |
T |
C |
18: 35,991,622 (GRCm39) |
S8P |
unknown |
Het |
Dido1 |
A |
C |
2: 180,326,763 (GRCm39) |
S453R |
possibly damaging |
Het |
Dnah2 |
A |
C |
11: 69,368,028 (GRCm39) |
S1770R |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,535,148 (GRCm39) |
V2704A |
possibly damaging |
Het |
Eml5 |
T |
C |
12: 98,760,535 (GRCm39) |
N1738S |
probably damaging |
Het |
Eri3 |
A |
G |
4: 117,439,836 (GRCm39) |
T138A |
possibly damaging |
Het |
Ext2 |
C |
T |
2: 93,537,632 (GRCm39) |
E585K |
probably damaging |
Het |
Fbxw19 |
T |
A |
9: 109,324,056 (GRCm39) |
S38C |
probably damaging |
Het |
Fcgbpl1 |
A |
T |
7: 27,854,917 (GRCm39) |
I1848F |
probably damaging |
Het |
Fmo6 |
G |
A |
1: 162,753,675 (GRCm39) |
P156S |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,339,764 (GRCm39) |
I686F |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,339,339 (GRCm39) |
L544P |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,031,177 (GRCm39) |
Y251C |
probably benign |
Het |
Gemin4 |
G |
T |
11: 76,101,987 (GRCm39) |
Q925K |
probably benign |
Het |
Gm18856 |
T |
A |
13: 14,139,274 (GRCm39) |
|
probably benign |
Het |
Gnb1 |
A |
T |
4: 155,636,171 (GRCm39) |
T164S |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,497,822 (GRCm39) |
D31G |
possibly damaging |
Het |
Gzmd |
A |
C |
14: 56,367,802 (GRCm39) |
I157S |
probably benign |
Het |
Il31ra |
T |
A |
13: 112,684,000 (GRCm39) |
N43I |
possibly damaging |
Het |
Irak3 |
T |
C |
10: 120,001,035 (GRCm39) |
T297A |
probably benign |
Het |
Kank2 |
T |
C |
9: 21,685,927 (GRCm39) |
D649G |
probably damaging |
Het |
Kif3b |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
2: 153,159,382 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhl18 |
A |
G |
9: 110,275,815 (GRCm39) |
F111S |
probably damaging |
Het |
Lratd2 |
A |
G |
15: 60,695,498 (GRCm39) |
C83R |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,697,585 (GRCm39) |
S319P |
possibly damaging |
Het |
Mettl15 |
T |
C |
2: 108,962,010 (GRCm39) |
|
probably null |
Het |
Mtarc1 |
T |
C |
1: 184,534,199 (GRCm39) |
E223G |
probably damaging |
Het |
Ncoa1 |
T |
C |
12: 4,320,748 (GRCm39) |
Q1107R |
possibly damaging |
Het |
Ncoa7 |
T |
G |
10: 30,570,207 (GRCm39) |
M251L |
probably damaging |
Het |
Nos2 |
A |
T |
11: 78,847,396 (GRCm39) |
M1023L |
probably benign |
Het |
Nup107 |
T |
C |
10: 117,626,399 (GRCm39) |
K25E |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,682,860 (GRCm39) |
Y223F |
probably damaging |
Het |
Or52s1b |
A |
G |
7: 102,822,193 (GRCm39) |
I217T |
probably damaging |
Het |
Or5k14 |
T |
A |
16: 58,693,261 (GRCm39) |
N84I |
probably damaging |
Het |
Or5p58 |
T |
A |
7: 107,694,493 (GRCm39) |
I95F |
probably damaging |
Het |
Or6b6 |
A |
T |
7: 106,571,190 (GRCm39) |
Y120* |
probably null |
Het |
Or6c206 |
T |
C |
10: 129,097,082 (GRCm39) |
I84T |
probably damaging |
Het |
Parm1 |
G |
A |
5: 91,742,306 (GRCm39) |
E225K |
possibly damaging |
Het |
Pdzd2 |
A |
C |
15: 12,373,047 (GRCm39) |
S2363A |
probably damaging |
Het |
Piezo1 |
A |
G |
8: 123,218,142 (GRCm39) |
L1199P |
probably damaging |
Het |
Prpsap1 |
A |
T |
11: 116,370,534 (GRCm39) |
M141K |
probably benign |
Het |
Prss29 |
A |
T |
17: 25,539,257 (GRCm39) |
M1L |
possibly damaging |
Het |
Pter |
T |
A |
2: 12,983,417 (GRCm39) |
S141T |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,501,662 (GRCm39) |
D1181E |
probably damaging |
Het |
Rab3ip |
T |
A |
10: 116,775,159 (GRCm39) |
Q66H |
probably damaging |
Het |
Rgs12 |
A |
T |
5: 35,178,511 (GRCm39) |
T779S |
probably damaging |
Het |
Rgs22 |
A |
G |
15: 36,048,922 (GRCm39) |
F786S |
probably damaging |
Het |
Rnasel |
A |
T |
1: 153,636,540 (GRCm39) |
D640V |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,415,899 (GRCm39) |
T1738A |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,447,508 (GRCm39) |
S3185P |
probably damaging |
Het |
Scnn1a |
T |
A |
6: 125,315,856 (GRCm39) |
D321E |
possibly damaging |
Het |
Sec31b |
G |
C |
19: 44,507,025 (GRCm39) |
L1014V |
probably benign |
Het |
Serpinb10 |
A |
G |
1: 107,468,690 (GRCm39) |
Y111C |
probably damaging |
Het |
Shld2 |
C |
G |
14: 33,990,833 (GRCm39) |
Q24H |
probably damaging |
Het |
Siglecg |
A |
G |
7: 43,067,313 (GRCm39) |
K627E |
possibly damaging |
Het |
Sigmar1 |
T |
C |
4: 41,740,845 (GRCm39) |
I95V |
probably benign |
Het |
Sirpb1b |
T |
A |
3: 15,613,819 (GRCm39) |
T88S |
possibly damaging |
Het |
Spire2 |
T |
G |
8: 124,084,895 (GRCm39) |
L245R |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,527,192 (GRCm39) |
P1150T |
probably benign |
Het |
Stat6 |
C |
A |
10: 127,489,125 (GRCm39) |
T380N |
probably damaging |
Het |
Sult3a1 |
G |
A |
10: 33,746,166 (GRCm39) |
G162E |
probably benign |
Het |
Surf4 |
T |
C |
2: 26,823,710 (GRCm39) |
|
probably null |
Het |
Tacc2 |
T |
C |
7: 130,227,149 (GRCm39) |
M1278T |
probably benign |
Het |
Tacr2 |
T |
A |
10: 62,097,106 (GRCm39) |
|
probably null |
Het |
Tcaf1 |
A |
T |
6: 42,655,923 (GRCm39) |
V351E |
probably damaging |
Het |
Tmcc2 |
A |
G |
1: 132,308,718 (GRCm39) |
S59P |
probably damaging |
Het |
Tmem17 |
G |
A |
11: 22,467,266 (GRCm39) |
S60N |
possibly damaging |
Het |
Tmem63b |
C |
G |
17: 45,989,904 (GRCm39) |
R88P |
possibly damaging |
Het |
Tmprss7 |
A |
T |
16: 45,499,753 (GRCm39) |
I307N |
probably benign |
Het |
Treml2 |
A |
T |
17: 48,609,786 (GRCm39) |
T73S |
possibly damaging |
Het |
Trrap |
A |
G |
5: 144,774,012 (GRCm39) |
H2876R |
possibly damaging |
Het |
Tyw3 |
A |
G |
3: 154,302,506 (GRCm39) |
I53T |
probably damaging |
Het |
Ugp2 |
A |
G |
11: 21,283,791 (GRCm39) |
I92T |
possibly damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,644,166 (GRCm39) |
M748K |
possibly damaging |
Het |
Vmn2r82 |
T |
C |
10: 79,192,578 (GRCm39) |
S52P |
possibly damaging |
Het |
Wdr37 |
A |
T |
13: 8,886,828 (GRCm39) |
S320T |
probably benign |
Het |
Zbtb16 |
A |
T |
9: 48,743,583 (GRCm39) |
M243K |
probably benign |
Het |
Zfr |
C |
T |
15: 12,150,329 (GRCm39) |
T432I |
possibly damaging |
Het |
|
Other mutations in Cacna1e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00551:Cacna1e
|
APN |
1 |
154,279,429 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01086:Cacna1e
|
APN |
1 |
154,347,347 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01302:Cacna1e
|
APN |
1 |
154,319,653 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01386:Cacna1e
|
APN |
1 |
154,348,123 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01573:Cacna1e
|
APN |
1 |
154,347,113 (GRCm39) |
missense |
probably benign |
|
IGL01676:Cacna1e
|
APN |
1 |
154,288,196 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01676:Cacna1e
|
APN |
1 |
154,274,222 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01762:Cacna1e
|
APN |
1 |
154,347,119 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01801:Cacna1e
|
APN |
1 |
154,347,086 (GRCm39) |
missense |
probably null |
0.00 |
IGL01895:Cacna1e
|
APN |
1 |
154,319,646 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02391:Cacna1e
|
APN |
1 |
154,296,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02399:Cacna1e
|
APN |
1 |
154,279,493 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02659:Cacna1e
|
APN |
1 |
154,302,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02686:Cacna1e
|
APN |
1 |
154,369,155 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02838:Cacna1e
|
APN |
1 |
154,321,394 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02958:Cacna1e
|
APN |
1 |
154,341,487 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02981:Cacna1e
|
APN |
1 |
154,347,171 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03120:Cacna1e
|
APN |
1 |
154,319,627 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03232:Cacna1e
|
APN |
1 |
154,369,104 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03310:Cacna1e
|
APN |
1 |
154,317,997 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03342:Cacna1e
|
APN |
1 |
154,342,690 (GRCm39) |
critical splice donor site |
probably null |
|
bezoar
|
UTSW |
1 |
154,312,300 (GRCm39) |
splice site |
probably null |
|
hairball
|
UTSW |
1 |
154,355,051 (GRCm39) |
missense |
probably damaging |
0.97 |
N/A - 535:Cacna1e
|
UTSW |
1 |
154,341,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R0122:Cacna1e
|
UTSW |
1 |
154,319,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R0143:Cacna1e
|
UTSW |
1 |
154,324,693 (GRCm39) |
splice site |
probably null |
|
R0314:Cacna1e
|
UTSW |
1 |
154,317,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0366:Cacna1e
|
UTSW |
1 |
154,291,884 (GRCm39) |
missense |
probably benign |
0.03 |
R0626:Cacna1e
|
UTSW |
1 |
154,364,563 (GRCm39) |
missense |
probably damaging |
0.99 |
R0739:Cacna1e
|
UTSW |
1 |
154,318,024 (GRCm39) |
missense |
probably damaging |
0.97 |
R1272:Cacna1e
|
UTSW |
1 |
154,320,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R1300:Cacna1e
|
UTSW |
1 |
154,274,419 (GRCm39) |
missense |
probably benign |
|
R1340:Cacna1e
|
UTSW |
1 |
154,348,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Cacna1e
|
UTSW |
1 |
154,437,552 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1449:Cacna1e
|
UTSW |
1 |
154,361,408 (GRCm39) |
critical splice donor site |
probably null |
|
R1542:Cacna1e
|
UTSW |
1 |
154,353,525 (GRCm39) |
missense |
probably benign |
0.01 |
R1560:Cacna1e
|
UTSW |
1 |
154,296,850 (GRCm39) |
nonsense |
probably null |
|
R1748:Cacna1e
|
UTSW |
1 |
154,362,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1749:Cacna1e
|
UTSW |
1 |
154,319,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Cacna1e
|
UTSW |
1 |
154,312,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Cacna1e
|
UTSW |
1 |
154,576,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Cacna1e
|
UTSW |
1 |
154,353,563 (GRCm39) |
missense |
probably damaging |
0.97 |
R1994:Cacna1e
|
UTSW |
1 |
154,353,563 (GRCm39) |
missense |
probably damaging |
0.97 |
R2191:Cacna1e
|
UTSW |
1 |
154,319,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Cacna1e
|
UTSW |
1 |
154,279,429 (GRCm39) |
missense |
probably damaging |
0.99 |
R2417:Cacna1e
|
UTSW |
1 |
154,347,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R3608:Cacna1e
|
UTSW |
1 |
154,291,831 (GRCm39) |
missense |
probably benign |
0.08 |
R3757:Cacna1e
|
UTSW |
1 |
154,509,442 (GRCm39) |
missense |
probably damaging |
0.97 |
R3890:Cacna1e
|
UTSW |
1 |
154,359,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R4015:Cacna1e
|
UTSW |
1 |
154,358,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R4088:Cacna1e
|
UTSW |
1 |
154,287,929 (GRCm39) |
splice site |
probably null |
|
R4275:Cacna1e
|
UTSW |
1 |
154,369,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R4282:Cacna1e
|
UTSW |
1 |
154,302,296 (GRCm39) |
missense |
probably benign |
0.04 |
R4297:Cacna1e
|
UTSW |
1 |
154,274,477 (GRCm39) |
missense |
probably benign |
0.37 |
R4356:Cacna1e
|
UTSW |
1 |
154,319,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Cacna1e
|
UTSW |
1 |
154,437,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Cacna1e
|
UTSW |
1 |
154,437,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R4577:Cacna1e
|
UTSW |
1 |
154,277,773 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4590:Cacna1e
|
UTSW |
1 |
154,312,265 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4601:Cacna1e
|
UTSW |
1 |
154,347,359 (GRCm39) |
missense |
probably benign |
|
R4622:Cacna1e
|
UTSW |
1 |
154,347,311 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4626:Cacna1e
|
UTSW |
1 |
154,358,294 (GRCm39) |
splice site |
probably null |
|
R4694:Cacna1e
|
UTSW |
1 |
154,313,012 (GRCm39) |
critical splice donor site |
probably null |
|
R4727:Cacna1e
|
UTSW |
1 |
154,312,214 (GRCm39) |
nonsense |
probably null |
|
R4839:Cacna1e
|
UTSW |
1 |
154,296,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R4851:Cacna1e
|
UTSW |
1 |
154,312,300 (GRCm39) |
splice site |
probably null |
|
R4894:Cacna1e
|
UTSW |
1 |
154,364,551 (GRCm39) |
nonsense |
probably null |
|
R4934:Cacna1e
|
UTSW |
1 |
154,357,380 (GRCm39) |
nonsense |
probably null |
|
R4979:Cacna1e
|
UTSW |
1 |
154,289,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R5077:Cacna1e
|
UTSW |
1 |
154,437,475 (GRCm39) |
critical splice donor site |
probably null |
|
R5128:Cacna1e
|
UTSW |
1 |
154,277,767 (GRCm39) |
missense |
probably damaging |
0.98 |
R5214:Cacna1e
|
UTSW |
1 |
154,577,110 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5274:Cacna1e
|
UTSW |
1 |
154,576,250 (GRCm39) |
missense |
probably damaging |
0.98 |
R5388:Cacna1e
|
UTSW |
1 |
154,353,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R5416:Cacna1e
|
UTSW |
1 |
154,341,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R5469:Cacna1e
|
UTSW |
1 |
154,319,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R5475:Cacna1e
|
UTSW |
1 |
154,601,455 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5607:Cacna1e
|
UTSW |
1 |
154,347,086 (GRCm39) |
missense |
probably benign |
0.00 |
R5615:Cacna1e
|
UTSW |
1 |
154,287,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R5616:Cacna1e
|
UTSW |
1 |
154,317,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R5627:Cacna1e
|
UTSW |
1 |
154,511,604 (GRCm39) |
missense |
probably damaging |
0.98 |
R5707:Cacna1e
|
UTSW |
1 |
154,509,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R5756:Cacna1e
|
UTSW |
1 |
154,347,383 (GRCm39) |
missense |
probably benign |
0.00 |
R5893:Cacna1e
|
UTSW |
1 |
154,313,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R6117:Cacna1e
|
UTSW |
1 |
154,437,537 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6134:Cacna1e
|
UTSW |
1 |
154,577,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Cacna1e
|
UTSW |
1 |
154,362,316 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6279:Cacna1e
|
UTSW |
1 |
154,301,678 (GRCm39) |
missense |
probably benign |
0.38 |
R6295:Cacna1e
|
UTSW |
1 |
154,317,919 (GRCm39) |
missense |
probably damaging |
0.98 |
R6300:Cacna1e
|
UTSW |
1 |
154,301,678 (GRCm39) |
missense |
probably benign |
0.38 |
R6320:Cacna1e
|
UTSW |
1 |
154,317,270 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6375:Cacna1e
|
UTSW |
1 |
154,355,051 (GRCm39) |
missense |
probably damaging |
0.97 |
R6830:Cacna1e
|
UTSW |
1 |
154,289,720 (GRCm39) |
critical splice donor site |
probably null |
|
R6842:Cacna1e
|
UTSW |
1 |
154,358,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R7023:Cacna1e
|
UTSW |
1 |
154,601,439 (GRCm39) |
missense |
probably null |
0.85 |
R7081:Cacna1e
|
UTSW |
1 |
154,576,129 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7085:Cacna1e
|
UTSW |
1 |
154,349,492 (GRCm39) |
splice site |
probably null |
|
R7108:Cacna1e
|
UTSW |
1 |
154,344,741 (GRCm39) |
frame shift |
probably null |
|
R7142:Cacna1e
|
UTSW |
1 |
154,288,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Cacna1e
|
UTSW |
1 |
154,576,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7332:Cacna1e
|
UTSW |
1 |
154,601,547 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7410:Cacna1e
|
UTSW |
1 |
154,347,980 (GRCm39) |
missense |
probably benign |
0.13 |
R7502:Cacna1e
|
UTSW |
1 |
154,344,734 (GRCm39) |
missense |
probably null |
0.35 |
R7556:Cacna1e
|
UTSW |
1 |
154,348,419 (GRCm39) |
missense |
probably benign |
0.28 |
R7563:Cacna1e
|
UTSW |
1 |
154,347,162 (GRCm39) |
missense |
probably benign |
0.00 |
R7573:Cacna1e
|
UTSW |
1 |
154,601,911 (GRCm39) |
intron |
probably benign |
|
R7689:Cacna1e
|
UTSW |
1 |
154,274,549 (GRCm39) |
missense |
probably benign |
0.01 |
R7699:Cacna1e
|
UTSW |
1 |
154,319,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R7744:Cacna1e
|
UTSW |
1 |
154,341,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Cacna1e
|
UTSW |
1 |
154,288,863 (GRCm39) |
missense |
probably damaging |
0.97 |
R7787:Cacna1e
|
UTSW |
1 |
154,358,314 (GRCm39) |
missense |
probably damaging |
0.98 |
R7818:Cacna1e
|
UTSW |
1 |
154,274,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R7838:Cacna1e
|
UTSW |
1 |
154,347,149 (GRCm39) |
missense |
probably benign |
0.08 |
R7849:Cacna1e
|
UTSW |
1 |
154,509,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R8011:Cacna1e
|
UTSW |
1 |
154,341,568 (GRCm39) |
missense |
probably benign |
0.01 |
R8094:Cacna1e
|
UTSW |
1 |
154,437,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R8162:Cacna1e
|
UTSW |
1 |
154,577,313 (GRCm39) |
splice site |
probably null |
|
R8202:Cacna1e
|
UTSW |
1 |
154,274,195 (GRCm39) |
missense |
probably benign |
|
R8280:Cacna1e
|
UTSW |
1 |
154,344,839 (GRCm39) |
missense |
probably damaging |
0.97 |
R8354:Cacna1e
|
UTSW |
1 |
154,274,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R8385:Cacna1e
|
UTSW |
1 |
154,319,687 (GRCm39) |
missense |
probably damaging |
0.98 |
R8532:Cacna1e
|
UTSW |
1 |
154,341,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R8902:Cacna1e
|
UTSW |
1 |
154,349,632 (GRCm39) |
missense |
probably benign |
0.01 |
R8926:Cacna1e
|
UTSW |
1 |
154,577,080 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8947:Cacna1e
|
UTSW |
1 |
154,277,896 (GRCm39) |
missense |
probably benign |
0.10 |
R9094:Cacna1e
|
UTSW |
1 |
154,355,064 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9126:Cacna1e
|
UTSW |
1 |
154,343,510 (GRCm39) |
missense |
probably benign |
0.01 |
R9175:Cacna1e
|
UTSW |
1 |
154,274,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R9286:Cacna1e
|
UTSW |
1 |
154,288,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R9377:Cacna1e
|
UTSW |
1 |
154,361,458 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9452:Cacna1e
|
UTSW |
1 |
154,289,720 (GRCm39) |
critical splice donor site |
probably null |
|
R9463:Cacna1e
|
UTSW |
1 |
154,357,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R9513:Cacna1e
|
UTSW |
1 |
154,318,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R9534:Cacna1e
|
UTSW |
1 |
154,320,693 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9562:Cacna1e
|
UTSW |
1 |
154,283,486 (GRCm39) |
missense |
probably benign |
0.01 |
RF008:Cacna1e
|
UTSW |
1 |
154,317,882 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Cacna1e
|
UTSW |
1 |
154,288,238 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cacna1e
|
UTSW |
1 |
154,511,596 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Cacna1e
|
UTSW |
1 |
154,318,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GACATAGCTGGGATAACACTGGCAC -3'
(R):5'- TGATGTGGCCTTCACTAGGCACAG -3'
Sequencing Primer
(F):5'- TAACACTGGCACAAGGGTCTG -3'
(R):5'- GTTGAACTGTATCACGCCATGAC -3'
|
Posted On |
2014-04-13 |