Incidental Mutation 'R7445:Cacna2d3'
| ID |
577252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna2d3
|
| Ensembl Gene |
ENSMUSG00000021991 |
| Gene Name |
calcium channel, voltage-dependent, alpha2/delta subunit 3 |
| Synonyms |
alpha 2 delta-3, alpha2delta3 |
| MMRRC Submission |
045521-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28780575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 648
(S648P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
|
| AlphaFold |
Q9Z1L5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022567
AA Change: S648P
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: S648P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
Blast:WNT1
|
28 |
103 |
2e-33 |
BLAST |
|
Pfam:VWA_N
|
113 |
229 |
6.8e-40 |
PFAM |
|
VWA
|
254 |
439 |
4.13e-24 |
SMART |
|
Pfam:Cache_1
|
452 |
548 |
3e-32 |
PFAM |
|
low complexity region
|
1070 |
1088 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1049 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,962 (GRCm39) |
S233T |
probably damaging |
Het |
| 1700034E13Rik |
T |
A |
18: 52,793,553 (GRCm39) |
C29S |
probably damaging |
Het |
| Acsbg3 |
G |
A |
17: 57,189,973 (GRCm39) |
R333Q |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,827,954 (GRCm39) |
T2208A |
|
Het |
| Ap4s1 |
T |
C |
12: 51,785,424 (GRCm39) |
L132P |
probably damaging |
Het |
| Ascl4 |
C |
T |
10: 85,764,364 (GRCm39) |
R4C |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,088,336 (GRCm39) |
Y18N |
probably damaging |
Het |
| Camta1 |
C |
T |
4: 151,228,748 (GRCm39) |
E695K |
possibly damaging |
Het |
| Ccdc28b |
A |
G |
4: 129,516,400 (GRCm39) |
F53L |
probably benign |
Het |
| Chaf1a |
A |
G |
17: 56,369,170 (GRCm39) |
D467G |
possibly damaging |
Het |
| Cnnm1 |
G |
A |
19: 43,429,260 (GRCm39) |
R126H |
possibly damaging |
Het |
| Cog5 |
T |
G |
12: 31,969,671 (GRCm39) |
S730R |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 113,987,578 (GRCm39) |
E1374D |
unknown |
Het |
| Csmd1 |
A |
G |
8: 16,208,268 (GRCm39) |
I1229T |
possibly damaging |
Het |
| Degs1l |
A |
G |
1: 180,882,577 (GRCm39) |
N113S |
possibly damaging |
Het |
| Dnajc30 |
T |
C |
5: 135,093,232 (GRCm39) |
L43P |
probably damaging |
Het |
| Eif3f |
C |
T |
7: 108,533,865 (GRCm39) |
T76M |
unknown |
Het |
| Ermap |
G |
A |
4: 119,045,907 (GRCm39) |
T42I |
unknown |
Het |
| Gpd1l |
C |
T |
9: 114,749,742 (GRCm39) |
G25S |
probably damaging |
Het |
| Heatr1 |
G |
T |
13: 12,445,919 (GRCm39) |
W1632L |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,744,286 (GRCm39) |
D29G |
|
Het |
| Ipo8 |
T |
C |
6: 148,691,315 (GRCm39) |
D685G |
probably benign |
Het |
| Klra10 |
T |
C |
6: 130,252,819 (GRCm39) |
T152A |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,693 (GRCm39) |
S82C |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,446,190 (GRCm39) |
S87P |
possibly damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
| Mei4 |
A |
G |
9: 81,772,292 (GRCm39) |
Y35C |
possibly damaging |
Het |
| Ms4a14 |
T |
G |
19: 11,280,336 (GRCm39) |
K741Q |
probably benign |
Het |
| Mtcl3 |
T |
C |
10: 29,072,999 (GRCm39) |
S764P |
possibly damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ncapg2 |
A |
G |
12: 116,382,888 (GRCm39) |
I240V |
possibly damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,149,914 (GRCm39) |
M145K |
probably damaging |
Het |
| Nmur2 |
A |
G |
11: 55,923,766 (GRCm39) |
F263L |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 58,994,576 (GRCm39) |
E164G |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,472,549 (GRCm39) |
L301S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,674,616 (GRCm39) |
T234S |
probably damaging |
Het |
| Or6c5b |
A |
T |
10: 129,245,754 (GRCm39) |
D173V |
probably benign |
Het |
| P3h2 |
T |
A |
16: 25,803,815 (GRCm39) |
Y317F |
probably damaging |
Het |
| Pcmtd1 |
C |
T |
1: 7,190,644 (GRCm39) |
R38C |
probably damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,368,661 (GRCm39) |
T286A |
possibly damaging |
Het |
| Pdxk |
T |
C |
10: 78,283,801 (GRCm39) |
D131G |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,906,932 (GRCm39) |
D1121G |
probably damaging |
Het |
| Prkra |
T |
C |
2: 76,463,942 (GRCm39) |
D240G |
probably benign |
Het |
| Ptgs1 |
C |
A |
2: 36,135,222 (GRCm39) |
N395K |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,426,820 (GRCm39) |
Y1572N |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,227 (GRCm39) |
H326L |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,719,704 (GRCm39) |
D778G |
probably benign |
Het |
| Rbm46 |
T |
A |
3: 82,771,517 (GRCm39) |
E366V |
probably damaging |
Het |
| Rnd1 |
G |
T |
15: 98,568,550 (GRCm39) |
H209Q |
probably benign |
Het |
| Rnf122 |
A |
T |
8: 31,608,528 (GRCm39) |
D32V |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,105,881 (GRCm39) |
P446S |
probably benign |
Het |
| Slco1a5 |
C |
A |
6: 142,204,734 (GRCm39) |
A187S |
possibly damaging |
Het |
| Smarca4 |
G |
A |
9: 21,597,543 (GRCm39) |
V1436M |
probably damaging |
Het |
| Smok2a |
G |
A |
17: 13,445,526 (GRCm39) |
G368R |
possibly damaging |
Het |
| Smok3c |
T |
A |
5: 138,062,757 (GRCm39) |
H81Q |
probably damaging |
Het |
| Stk16 |
T |
C |
1: 75,190,296 (GRCm39) |
V245A |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,094,122 (GRCm39) |
N1505K |
possibly damaging |
Het |
| Tigd4 |
G |
A |
3: 84,502,471 (GRCm39) |
A463T |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,612,799 (GRCm39) |
F112L |
probably benign |
Het |
| Tmem72 |
A |
G |
6: 116,675,291 (GRCm39) |
I67T |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,718,058 (GRCm39) |
|
probably null |
Het |
| Trav14-2 |
A |
G |
14: 53,878,515 (GRCm39) |
Q66R |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,598,276 (GRCm39) |
D677V |
probably damaging |
Het |
| Vgll4 |
C |
T |
6: 114,839,157 (GRCm39) |
S278N |
unknown |
Het |
| Wdfy4 |
C |
T |
14: 32,792,575 (GRCm39) |
W2157* |
probably null |
Het |
|
| Other mutations in Cacna2d3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Cacna2d3
|
APN |
14 |
29,022,688 (GRCm39) |
splice site |
probably benign |
|
|
IGL01150:Cacna2d3
|
APN |
14 |
28,905,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01390:Cacna2d3
|
APN |
14 |
28,665,548 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01626:Cacna2d3
|
APN |
14 |
28,665,564 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02127:Cacna2d3
|
APN |
14 |
28,785,832 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02237:Cacna2d3
|
APN |
14 |
29,068,954 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02274:Cacna2d3
|
APN |
14 |
28,678,827 (GRCm39) |
splice site |
probably null |
|
|
IGL02604:Cacna2d3
|
APN |
14 |
29,015,066 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02806:Cacna2d3
|
APN |
14 |
29,073,907 (GRCm39) |
splice site |
probably null |
|
|
IGL02838:Cacna2d3
|
APN |
14 |
29,022,785 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02894:Cacna2d3
|
APN |
14 |
28,786,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03061:Cacna2d3
|
APN |
14 |
28,780,388 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03117:Cacna2d3
|
APN |
14 |
29,189,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Cacna2d3
|
APN |
14 |
28,674,243 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03266:Cacna2d3
|
APN |
14 |
29,022,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03396:Cacna2d3
|
APN |
14 |
29,442,834 (GRCm39) |
nonsense |
probably null |
|
|
R0094:Cacna2d3
|
UTSW |
14 |
28,892,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0326:Cacna2d3
|
UTSW |
14 |
28,767,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0485:Cacna2d3
|
UTSW |
14 |
29,256,476 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0669:Cacna2d3
|
UTSW |
14 |
29,189,906 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0730:Cacna2d3
|
UTSW |
14 |
28,704,322 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0736:Cacna2d3
|
UTSW |
14 |
28,780,585 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1073:Cacna2d3
|
UTSW |
14 |
28,767,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1116:Cacna2d3
|
UTSW |
14 |
28,786,278 (GRCm39) |
splice site |
probably benign |
|
|
R1312:Cacna2d3
|
UTSW |
14 |
28,767,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Cacna2d3
|
UTSW |
14 |
29,055,736 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1467:Cacna2d3
|
UTSW |
14 |
29,055,736 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1501:Cacna2d3
|
UTSW |
14 |
28,703,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Cacna2d3
|
UTSW |
14 |
28,694,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1574:Cacna2d3
|
UTSW |
14 |
29,073,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Cacna2d3
|
UTSW |
14 |
29,073,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Cacna2d3
|
UTSW |
14 |
28,691,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Cacna2d3
|
UTSW |
14 |
28,627,259 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2981:Cacna2d3
|
UTSW |
14 |
28,785,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3715:Cacna2d3
|
UTSW |
14 |
29,068,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3791:Cacna2d3
|
UTSW |
14 |
28,905,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3847:Cacna2d3
|
UTSW |
14 |
29,069,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3849:Cacna2d3
|
UTSW |
14 |
29,069,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3850:Cacna2d3
|
UTSW |
14 |
29,069,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4558:Cacna2d3
|
UTSW |
14 |
28,825,670 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4594:Cacna2d3
|
UTSW |
14 |
28,704,303 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4681:Cacna2d3
|
UTSW |
14 |
29,015,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Cacna2d3
|
UTSW |
14 |
28,678,743 (GRCm39) |
splice site |
probably null |
|
|
R4965:Cacna2d3
|
UTSW |
14 |
28,704,289 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5133:Cacna2d3
|
UTSW |
14 |
29,015,135 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5311:Cacna2d3
|
UTSW |
14 |
29,068,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5432:Cacna2d3
|
UTSW |
14 |
28,665,512 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5873:Cacna2d3
|
UTSW |
14 |
29,442,891 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6103:Cacna2d3
|
UTSW |
14 |
29,118,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Cacna2d3
|
UTSW |
14 |
28,630,278 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6396:Cacna2d3
|
UTSW |
14 |
29,118,522 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6626:Cacna2d3
|
UTSW |
14 |
28,786,143 (GRCm39) |
unclassified |
probably benign |
|
|
R6632:Cacna2d3
|
UTSW |
14 |
28,627,222 (GRCm39) |
makesense |
probably null |
|
|
R6706:Cacna2d3
|
UTSW |
14 |
28,846,642 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6765:Cacna2d3
|
UTSW |
14 |
28,777,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6945:Cacna2d3
|
UTSW |
14 |
28,691,275 (GRCm39) |
intron |
probably benign |
|
|
R7009:Cacna2d3
|
UTSW |
14 |
28,691,322 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7069:Cacna2d3
|
UTSW |
14 |
28,691,260 (GRCm39) |
intron |
probably benign |
|
|
R7146:Cacna2d3
|
UTSW |
14 |
29,443,654 (GRCm39) |
missense |
unknown |
|
|
R7427:Cacna2d3
|
UTSW |
14 |
28,786,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Cacna2d3
|
UTSW |
14 |
28,786,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Cacna2d3
|
UTSW |
14 |
28,767,501 (GRCm39) |
splice site |
probably null |
|
|
R7560:Cacna2d3
|
UTSW |
14 |
28,780,378 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7703:Cacna2d3
|
UTSW |
14 |
28,765,503 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8042:Cacna2d3
|
UTSW |
14 |
28,826,995 (GRCm39) |
splice site |
probably benign |
|
|
R8096:Cacna2d3
|
UTSW |
14 |
28,825,657 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8280:Cacna2d3
|
UTSW |
14 |
28,704,328 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8814:Cacna2d3
|
UTSW |
14 |
28,819,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Cacna2d3
|
UTSW |
14 |
28,691,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8864:Cacna2d3
|
UTSW |
14 |
29,055,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Cacna2d3
|
UTSW |
14 |
29,068,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9341:Cacna2d3
|
UTSW |
14 |
28,704,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9343:Cacna2d3
|
UTSW |
14 |
28,704,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9567:Cacna2d3
|
UTSW |
14 |
28,627,268 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1088:Cacna2d3
|
UTSW |
14 |
28,786,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cacna2d3
|
UTSW |
14 |
29,069,120 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGATAGATGGCGGTGCTC -3'
(R):5'- AGAATCTTTGTTCCCCAGCAC -3'
Sequencing Primer
(F):5'- CAGGTCAGTGTTGCAGTAGGACC -3'
(R):5'- CCAGCACATCCCTTTGGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation