Incidental Mutation 'R0669:Cacna2d3'
| ID |
62158 |
| 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 |
038854-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0669 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29189906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 110
(V110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
|
| AlphaFold |
Q9Z1L5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022567
AA Change: V110A
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: V110A
| 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 |
0.0957 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
99% (80/81) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,089,671 (GRCm39) |
H71L |
possibly damaging |
Het |
| Abcb11 |
C |
A |
2: 69,159,662 (GRCm39) |
V10L |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,200,950 (GRCm39) |
T689A |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,193,036 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,614 (GRCm39) |
I181T |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,857,938 (GRCm39) |
V231D |
probably damaging |
Het |
| Angptl6 |
C |
T |
9: 20,787,823 (GRCm39) |
V197M |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,772 (GRCm39) |
V99A |
probably benign |
Het |
| Ccdc32 |
A |
G |
2: 118,849,648 (GRCm39) |
|
probably benign |
Het |
| Cela3b |
T |
C |
4: 137,155,841 (GRCm39) |
H22R |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,994,008 (GRCm39) |
T190A |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,435 (GRCm39) |
C557R |
probably damaging |
Het |
| Cntd1 |
A |
G |
11: 101,178,324 (GRCm39) |
T308A |
probably damaging |
Het |
| Cutal |
T |
C |
2: 34,775,878 (GRCm39) |
|
probably benign |
Het |
| Dipk1b |
A |
G |
2: 26,524,878 (GRCm39) |
T93A |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,342,911 (GRCm39) |
S1418R |
probably benign |
Het |
| Dnpep |
A |
G |
1: 75,288,422 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,875,716 (GRCm39) |
Y1075N |
probably benign |
Het |
| Eif2s1 |
C |
T |
12: 78,928,012 (GRCm39) |
|
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,725,419 (GRCm39) |
Y221C |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,425,573 (GRCm39) |
|
probably null |
Het |
| Gm5592 |
T |
C |
7: 40,805,254 (GRCm39) |
|
probably benign |
Het |
| Ipp |
A |
G |
4: 116,395,073 (GRCm39) |
Y536C |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,740 (GRCm39) |
E402G |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,014,638 (GRCm39) |
L599P |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,120 (GRCm39) |
T287S |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,537,025 (GRCm39) |
T232S |
probably benign |
Het |
| Lrrc63 |
G |
A |
14: 75,363,550 (GRCm39) |
H194Y |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,725,274 (GRCm39) |
T416A |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,875,153 (GRCm39) |
|
probably null |
Het |
| Mms22l |
T |
C |
4: 24,517,223 (GRCm39) |
V258A |
probably benign |
Het |
| Mrpl46 |
A |
T |
7: 78,432,631 (GRCm39) |
L49* |
probably null |
Het |
| Mrs2 |
T |
C |
13: 25,177,742 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mtrf1 |
T |
A |
14: 79,656,708 (GRCm39) |
Y403* |
probably null |
Het |
| Muc20 |
G |
A |
16: 32,614,850 (GRCm39) |
P176S |
unknown |
Het |
| Mup21 |
C |
T |
4: 62,068,964 (GRCm39) |
C9Y |
unknown |
Het |
| Mup-ps21 |
A |
T |
4: 61,949,007 (GRCm39) |
|
noncoding transcript |
Het |
| Mybph |
T |
G |
1: 134,125,081 (GRCm39) |
|
probably null |
Het |
| Mypn |
A |
G |
10: 62,970,702 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,058,431 (GRCm39) |
S124P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,241 (GRCm39) |
D556G |
probably damaging |
Het |
| Numa1 |
A |
C |
7: 101,648,884 (GRCm39) |
I872L |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,544 (GRCm39) |
I225V |
possibly damaging |
Het |
| Or2a7 |
C |
T |
6: 43,150,938 (GRCm39) |
T6I |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,272 (GRCm39) |
M108L |
probably benign |
Het |
| Or5p52 |
T |
A |
7: 107,502,446 (GRCm39) |
I174K |
probably damaging |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,308 (GRCm39) |
N434I |
probably damaging |
Het |
| Pigq |
A |
T |
17: 26,155,736 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
T |
G |
1: 194,471,145 (GRCm39) |
V972G |
probably damaging |
Het |
| Psma3 |
G |
A |
12: 71,035,269 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,703,975 (GRCm39) |
T1336A |
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,720,598 (GRCm39) |
D258G |
probably benign |
Het |
| Serpinb6c |
A |
G |
13: 34,083,252 (GRCm39) |
I54T |
probably damaging |
Het |
| Sh2d7 |
A |
T |
9: 54,448,633 (GRCm39) |
Y218F |
probably benign |
Het |
| Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
A |
T |
16: 33,371,274 (GRCm39) |
I137F |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,683,600 (GRCm39) |
V1153A |
possibly damaging |
Het |
| Smc6 |
A |
T |
12: 11,339,165 (GRCm39) |
I334L |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,230,380 (GRCm39) |
|
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,401 (GRCm39) |
L137P |
probably damaging |
Het |
| Tcam1 |
A |
T |
11: 106,176,252 (GRCm39) |
D326V |
possibly damaging |
Het |
| Telo2 |
A |
T |
17: 25,324,797 (GRCm39) |
V461D |
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,498,325 (GRCm39) |
C351* |
probably null |
Het |
| Trim66 |
T |
A |
7: 109,054,199 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
G |
T |
10: 71,097,940 (GRCm39) |
H32N |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,793,736 (GRCm39) |
|
probably benign |
Het |
| Vma21 |
C |
T |
X: 70,863,763 (GRCm39) |
T81M |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,345 (GRCm39) |
S46P |
probably benign |
Het |
| Wars1 |
T |
C |
12: 108,831,944 (GRCm39) |
S374G |
probably benign |
Het |
| Wbp1 |
T |
C |
6: 83,096,326 (GRCm39) |
D277G |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,123,209 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- TGAGGACTGCTACCCTCATCCAAC -3'
(R):5'- GACCTTTGATTCCCGAGTTACACCC -3'
Sequencing Primer
(F):5'- TCATCCAACATGAGAGAGATATGC -3'
(R):5'- CCGAGTTACACCCTTTCTAAATAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation