Incidental Mutation 'R7505:Cacna2d3'
| ID |
585919 |
| 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 |
045578-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7505 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 28767501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
|
| AlphaFold |
Q9Z1L5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022567
|
| SMART Domains |
Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
A |
15: 91,033,260 (GRCm39) |
N719Y |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,687,347 (GRCm39) |
I1058T |
probably benign |
Het |
| Alb |
T |
A |
5: 90,617,368 (GRCm39) |
Y356N |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,225,924 (GRCm39) |
N971D |
probably damaging |
Het |
| Atp6v1c2 |
A |
G |
12: 17,347,724 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
A |
T |
1: 5,194,561 (GRCm39) |
I247L |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,013,187 (GRCm39) |
R593* |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,575,231 (GRCm39) |
G2D |
probably benign |
Het |
| Cebpe |
G |
T |
14: 54,948,113 (GRCm39) |
N243K |
probably damaging |
Het |
| Celf2 |
A |
T |
2: 6,629,511 (GRCm39) |
M136K |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,352,127 (GRCm39) |
I778V |
probably benign |
Het |
| Col22a1 |
A |
T |
15: 71,671,248 (GRCm39) |
C1592* |
probably null |
Het |
| Cpne2 |
A |
T |
8: 95,275,094 (GRCm39) |
N34I |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,219,240 (GRCm39) |
N860S |
probably benign |
Het |
| Disp2 |
T |
G |
2: 118,621,569 (GRCm39) |
L767R |
probably damaging |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,270 (GRCm39) |
N96K |
probably benign |
Het |
| Evpl |
A |
G |
11: 116,117,813 (GRCm39) |
|
probably null |
Het |
| F7 |
A |
T |
8: 13,078,745 (GRCm39) |
N59Y |
possibly damaging |
Het |
| Fam98a |
A |
T |
17: 75,845,233 (GRCm39) |
H504Q |
unknown |
Het |
| Fbxo4 |
G |
A |
15: 4,000,903 (GRCm39) |
R270C |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,789,099 (GRCm39) |
V555A |
probably damaging |
Het |
| Fgf4 |
T |
C |
7: 144,415,498 (GRCm39) |
V86A |
possibly damaging |
Het |
| Fpgt |
G |
T |
3: 154,792,413 (GRCm39) |
A538D |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,029,162 (GRCm39) |
T181A |
probably benign |
Het |
| Gask1a |
G |
C |
9: 121,805,483 (GRCm39) |
G425R |
probably benign |
Het |
| Gbx2 |
A |
G |
1: 89,856,455 (GRCm39) |
S312P |
probably benign |
Het |
| Gm29735 |
C |
T |
7: 141,710,327 (GRCm39) |
C175Y |
unknown |
Het |
| Gm7995 |
A |
G |
14: 42,132,314 (GRCm39) |
T49A |
|
Het |
| Hnrnpk |
A |
G |
13: 58,547,783 (GRCm39) |
M27T |
probably benign |
Het |
| Idh3b |
A |
G |
2: 130,126,147 (GRCm39) |
S20P |
probably benign |
Het |
| Idh3b |
G |
C |
2: 130,126,153 (GRCm39) |
R18G |
probably benign |
Het |
| Ighg2b |
T |
A |
12: 113,268,600 (GRCm39) |
T354S |
|
Het |
| Lrfn2 |
T |
A |
17: 49,403,479 (GRCm39) |
M534K |
probably benign |
Het |
| Mcpt8 |
G |
A |
14: 56,320,548 (GRCm39) |
A127V |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,304,743 (GRCm39) |
N176K |
possibly damaging |
Het |
| Mtr |
G |
T |
13: 12,236,362 (GRCm39) |
D621E |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,106,925 (GRCm39) |
I63N |
probably benign |
Het |
| Nol6 |
T |
C |
4: 41,120,352 (GRCm39) |
D455G |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,098,757 (GRCm39) |
S637T |
probably benign |
Het |
| Ntn4 |
G |
T |
10: 93,543,146 (GRCm39) |
G291W |
probably damaging |
Het |
| Or13a28 |
C |
A |
7: 140,217,965 (GRCm39) |
T117K |
probably damaging |
Het |
| Or4d10 |
T |
A |
19: 12,051,969 (GRCm39) |
E9V |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,528,364 (GRCm39) |
T1865S |
probably benign |
Het |
| Plec |
A |
T |
15: 76,065,394 (GRCm39) |
S1559T |
unknown |
Het |
| Plekhm1 |
C |
T |
11: 103,270,855 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
A |
17: 56,416,357 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Polrmt |
A |
G |
10: 79,573,717 (GRCm39) |
F995L |
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,579,010 (GRCm39) |
|
probably null |
Het |
| Pramel16 |
A |
G |
4: 143,676,273 (GRCm39) |
I277T |
possibly damaging |
Het |
| Pramel28 |
C |
T |
4: 143,691,556 (GRCm39) |
C389Y |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,573,077 (GRCm39) |
T375A |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,542,774 (GRCm39) |
M3145K |
probably damaging |
Het |
| S100a11 |
A |
G |
3: 93,433,339 (GRCm39) |
K61R |
probably benign |
Het |
| Sar1a |
A |
G |
10: 61,527,073 (GRCm39) |
T164A |
probably benign |
Het |
| Sec31b |
C |
T |
19: 44,532,146 (GRCm39) |
A25T |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,363,350 (GRCm39) |
V371A |
probably benign |
Het |
| Speer1g |
T |
A |
5: 11,181,135 (GRCm39) |
Y141N |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,905,832 (GRCm39) |
L1271* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,115,862 (GRCm39) |
T944A |
possibly damaging |
Het |
| Taf6 |
A |
T |
5: 138,178,207 (GRCm39) |
C431* |
probably null |
Het |
| Tdrd6 |
A |
G |
17: 43,938,570 (GRCm39) |
V826A |
not run |
Het |
| Tent4a |
G |
T |
13: 69,655,047 (GRCm39) |
P476T |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,836,037 (GRCm39) |
V831A |
probably damaging |
Het |
| Tnfrsf8 |
T |
G |
4: 144,995,685 (GRCm39) |
D458A |
probably damaging |
Het |
| Trpv5 |
A |
G |
6: 41,651,590 (GRCm39) |
I196T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,608,898 (GRCm39) |
D17706V |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,223,444 (GRCm39) |
Y276C |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,236,276 (GRCm39) |
I988K |
probably damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,279 (GRCm39) |
R356* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,869,971 (GRCm39) |
H429Q |
probably damaging |
Het |
| Wwc2 |
A |
T |
8: 48,333,185 (GRCm39) |
L277Q |
probably damaging |
Het |
| Zscan12 |
T |
A |
13: 21,552,756 (GRCm39) |
N193K |
possibly damaging |
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 |
|
R7445:Cacna2d3
|
UTSW |
14 |
28,780,575 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- AAATGCCCTTTGTGCCATTTGG -3'
(R):5'- ACCTAGTCTCTCCTGACAGAGG -3'
Sequencing Primer
(F):5'- ATTTGGCTGAGACAAGCCTC -3'
(R):5'- TGACAGAGGCTCTTGTTTATCTAC -3'
|
| Posted On |
2019-10-18 |
Incidental Mutation