Incidental Mutation 'R3975:Cacna2d4'
ID |
312598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacna2d4
|
Ensembl Gene |
ENSMUSG00000041460 |
Gene Name |
calcium channel, voltage-dependent, alpha 2/delta subunit 4 |
Synonyms |
5730412N02Rik |
MMRRC Submission |
040939-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3975 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
119236526-119352407 bp(+) (GRCm38) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 119278173 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044660
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000037434]
[ENSMUST00000186622]
|
AlphaFold |
Q5RJF7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037434
|
SMART Domains |
Protein: ENSMUSP00000044660 Gene: ENSMUSG00000041460
Domain | Start | End | E-Value | Type |
Blast:WNT1
|
79 |
144 |
1e-13 |
BLAST |
Pfam:VWA_N
|
155 |
271 |
7.3e-40 |
PFAM |
VWA
|
296 |
481 |
4.37e-14 |
SMART |
Pfam:Cache_1
|
494 |
586 |
1.1e-24 |
PFAM |
low complexity region
|
837 |
849 |
N/A |
INTRINSIC |
low complexity region
|
975 |
984 |
N/A |
INTRINSIC |
low complexity region
|
1000 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1120 |
1143 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000037434
|
SMART Domains |
Protein: ENSMUSP00000044660 Gene: ENSMUSG00000041460
Domain | Start | End | E-Value | Type |
Blast:WNT1
|
79 |
144 |
1e-13 |
BLAST |
Pfam:VWA_N
|
155 |
271 |
7.3e-40 |
PFAM |
VWA
|
296 |
481 |
4.37e-14 |
SMART |
Pfam:Cache_1
|
494 |
586 |
1.1e-24 |
PFAM |
low complexity region
|
837 |
849 |
N/A |
INTRINSIC |
low complexity region
|
975 |
984 |
N/A |
INTRINSIC |
low complexity region
|
1000 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1120 |
1143 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186622
|
SMART Domains |
Protein: ENSMUSP00000140197 Gene: ENSMUSG00000041460
Domain | Start | End | E-Value | Type |
Blast:WNT1
|
79 |
144 |
1e-13 |
BLAST |
Pfam:VWA_N
|
155 |
271 |
6.4e-44 |
PFAM |
VWA
|
296 |
481 |
2.7e-16 |
SMART |
Pfam:Cache_1
|
494 |
559 |
1.1e-7 |
PFAM |
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
low complexity region
|
950 |
959 |
N/A |
INTRINSIC |
low complexity region
|
975 |
986 |
N/A |
INTRINSIC |
low complexity region
|
1095 |
1118 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190015
|
Meta Mutation Damage Score |
0.9755  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
95% (59/62) |
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 a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
T |
A |
1: 63,547,729 (GRCm38) |
Y416* |
probably null |
Het |
Akr1b10 |
G |
T |
6: 34,392,496 (GRCm38) |
|
probably null |
Het |
Arap2 |
G |
T |
5: 62,748,894 (GRCm38) |
P261T |
possibly damaging |
Het |
Bckdha |
C |
A |
7: 25,631,433 (GRCm38) |
D53Y |
probably damaging |
Het |
Bfsp2 |
A |
G |
9: 103,480,072 (GRCm38) |
V52A |
probably benign |
Het |
Bola3 |
T |
C |
6: 83,351,267 (GRCm38) |
L45P |
probably benign |
Het |
Ceacam16 |
C |
A |
7: 19,853,612 (GRCm38) |
Q410H |
probably damaging |
Het |
Cenpe |
A |
G |
3: 135,235,225 (GRCm38) |
|
probably null |
Het |
Cenpe |
T |
C |
3: 135,238,472 (GRCm38) |
|
probably null |
Het |
Clca1 |
A |
T |
3: 145,032,639 (GRCm38) |
V36D |
probably damaging |
Het |
Copa |
T |
A |
1: 172,121,245 (GRCm38) |
S1155T |
probably benign |
Het |
Crb2 |
C |
A |
2: 37,793,668 (GRCm38) |
P1061T |
possibly damaging |
Het |
Crot |
T |
C |
5: 8,977,541 (GRCm38) |
T264A |
probably benign |
Het |
Cyp51 |
C |
T |
5: 4,091,877 (GRCm38) |
G346S |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,121,992 (GRCm38) |
S2027P |
possibly damaging |
Het |
Fam129a |
T |
C |
1: 151,649,335 (GRCm38) |
Y164H |
probably damaging |
Het |
Fbxo18 |
T |
C |
2: 11,767,210 (GRCm38) |
H220R |
possibly damaging |
Het |
Gdf2 |
T |
A |
14: 33,944,834 (GRCm38) |
V171D |
probably damaging |
Het |
Gm9825 |
A |
T |
6: 7,983,149 (GRCm38) |
|
noncoding transcript |
Het |
Golgb1 |
T |
G |
16: 36,918,571 (GRCm38) |
V2424G |
probably damaging |
Het |
Gpbp1l1 |
T |
C |
4: 116,570,985 (GRCm38) |
|
probably null |
Het |
Gpx6 |
C |
A |
13: 21,317,658 (GRCm38) |
S150Y |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,522,247 (GRCm38) |
N672S |
possibly damaging |
Het |
Kcnma1 |
C |
T |
14: 24,003,747 (GRCm38) |
|
probably null |
Het |
Lrba |
T |
C |
3: 86,351,255 (GRCm38) |
F1350L |
probably damaging |
Het |
Nat8f4 |
A |
G |
6: 85,901,070 (GRCm38) |
V157A |
possibly damaging |
Het |
Nt5dc2 |
T |
C |
14: 31,138,875 (GRCm38) |
S439P |
probably damaging |
Het |
Olfr1090 |
T |
A |
2: 86,754,543 (GRCm38) |
H65L |
probably damaging |
Het |
Olfr134 |
A |
G |
17: 38,175,495 (GRCm38) |
N137S |
probably benign |
Het |
Olfr141 |
G |
A |
2: 86,806,460 (GRCm38) |
P180S |
possibly damaging |
Het |
Olfr693 |
T |
C |
7: 106,677,785 (GRCm38) |
R234G |
probably damaging |
Het |
Orm3 |
A |
T |
4: 63,356,158 (GRCm38) |
|
probably null |
Het |
Otof |
A |
G |
5: 30,370,712 (GRCm38) |
L1929P |
probably damaging |
Het |
Pex5l |
C |
A |
3: 33,015,015 (GRCm38) |
C111F |
probably damaging |
Het |
Plcl1 |
T |
A |
1: 55,698,215 (GRCm38) |
M905K |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,540,206 (GRCm38) |
I186T |
possibly damaging |
Het |
Rara |
T |
G |
11: 98,970,569 (GRCm38) |
I236S |
probably damaging |
Het |
Reln |
A |
T |
5: 21,995,366 (GRCm38) |
S1379T |
possibly damaging |
Het |
Rp1l1 |
T |
A |
14: 64,030,309 (GRCm38) |
Y1115N |
probably damaging |
Het |
Rpe65 |
A |
T |
3: 159,604,585 (GRCm38) |
N135I |
probably damaging |
Het |
Rps6 |
A |
G |
4: 86,856,813 (GRCm38) |
V18A |
probably benign |
Het |
Scrn3 |
T |
C |
2: 73,335,777 (GRCm38) |
S385P |
possibly damaging |
Het |
Sis |
T |
C |
3: 72,943,635 (GRCm38) |
T577A |
probably damaging |
Het |
Slx1b |
G |
A |
7: 126,691,807 (GRCm38) |
L239F |
probably damaging |
Het |
Smad4 |
G |
T |
18: 73,677,736 (GRCm38) |
T59K |
possibly damaging |
Het |
Smad6 |
A |
G |
9: 64,020,930 (GRCm38) |
V32A |
probably benign |
Het |
Smc6 |
T |
A |
12: 11,274,074 (GRCm38) |
F73L |
probably damaging |
Het |
Sorbs2 |
T |
C |
8: 45,772,710 (GRCm38) |
|
probably null |
Het |
Svbp |
T |
A |
4: 119,195,893 (GRCm38) |
F32I |
probably benign |
Het |
Tap1 |
C |
A |
17: 34,189,567 (GRCm38) |
|
probably benign |
Het |
Tesk1 |
C |
T |
4: 43,445,786 (GRCm38) |
P280S |
possibly damaging |
Het |
Thrb |
A |
G |
14: 18,033,456 (GRCm38) |
I406M |
probably damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,418,609 (GRCm38) |
S761P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,876,653 (GRCm38) |
|
probably benign |
Het |
Umodl1 |
C |
A |
17: 30,984,789 (GRCm38) |
Y525* |
probably null |
Het |
Vmn2r70 |
C |
T |
7: 85,559,332 (GRCm38) |
V646I |
probably benign |
Het |
Wipf1 |
C |
T |
2: 73,437,169 (GRCm38) |
G295D |
probably benign |
Het |
Wisp3 |
C |
G |
10: 39,155,098 (GRCm38) |
C143S |
probably damaging |
Het |
Zim1 |
A |
T |
7: 6,677,130 (GRCm38) |
H511Q |
probably damaging |
Het |
|
Other mutations in Cacna2d4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00391:Cacna2d4
|
APN |
6 |
119,337,933 (GRCm38) |
splice site |
probably benign |
|
IGL00469:Cacna2d4
|
APN |
6 |
119,268,278 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00518:Cacna2d4
|
APN |
6 |
119,343,575 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00946:Cacna2d4
|
APN |
6 |
119,271,915 (GRCm38) |
missense |
possibly damaging |
0.82 |
IGL01447:Cacna2d4
|
APN |
6 |
119,242,904 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01514:Cacna2d4
|
APN |
6 |
119,282,173 (GRCm38) |
splice site |
probably benign |
|
IGL01576:Cacna2d4
|
APN |
6 |
119,281,641 (GRCm38) |
nonsense |
probably null |
|
IGL01934:Cacna2d4
|
APN |
6 |
119,308,768 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02231:Cacna2d4
|
APN |
6 |
119,277,908 (GRCm38) |
splice site |
probably benign |
|
IGL02516:Cacna2d4
|
APN |
6 |
119,271,870 (GRCm38) |
splice site |
probably benign |
|
IGL02688:Cacna2d4
|
APN |
6 |
119,270,749 (GRCm38) |
splice site |
probably null |
|
IGL03110:Cacna2d4
|
APN |
6 |
119,236,737 (GRCm38) |
missense |
probably benign |
0.05 |
IGL03365:Cacna2d4
|
APN |
6 |
119,271,264 (GRCm38) |
missense |
probably benign |
0.15 |
saccharine
|
UTSW |
6 |
119,345,106 (GRCm38) |
splice site |
probably benign |
|
Steveo
|
UTSW |
6 |
119,347,252 (GRCm38) |
critical splice donor site |
probably null |
|
Sussmann
|
UTSW |
6 |
119,274,318 (GRCm38) |
missense |
probably damaging |
1.00 |
R0139:Cacna2d4
|
UTSW |
6 |
119,278,269 (GRCm38) |
intron |
probably benign |
|
R0157:Cacna2d4
|
UTSW |
6 |
119,312,424 (GRCm38) |
missense |
probably benign |
0.00 |
R0158:Cacna2d4
|
UTSW |
6 |
119,236,748 (GRCm38) |
missense |
possibly damaging |
0.68 |
R0245:Cacna2d4
|
UTSW |
6 |
119,308,721 (GRCm38) |
missense |
probably damaging |
1.00 |
R0612:Cacna2d4
|
UTSW |
6 |
119,281,718 (GRCm38) |
splice site |
probably benign |
|
R0659:Cacna2d4
|
UTSW |
6 |
119,345,106 (GRCm38) |
splice site |
probably benign |
|
R0722:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
R0743:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
R0833:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
R0835:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
R0836:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
R0884:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
R1052:Cacna2d4
|
UTSW |
6 |
119,300,333 (GRCm38) |
missense |
probably damaging |
1.00 |
R1168:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
R1170:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
R1451:Cacna2d4
|
UTSW |
6 |
119,236,824 (GRCm38) |
missense |
probably benign |
0.01 |
R1564:Cacna2d4
|
UTSW |
6 |
119,241,195 (GRCm38) |
missense |
possibly damaging |
0.67 |
R1809:Cacna2d4
|
UTSW |
6 |
119,270,824 (GRCm38) |
missense |
probably damaging |
0.99 |
R1936:Cacna2d4
|
UTSW |
6 |
119,270,761 (GRCm38) |
missense |
possibly damaging |
0.82 |
R2078:Cacna2d4
|
UTSW |
6 |
119,338,116 (GRCm38) |
missense |
probably benign |
0.02 |
R2198:Cacna2d4
|
UTSW |
6 |
119,347,259 (GRCm38) |
splice site |
probably benign |
|
R2280:Cacna2d4
|
UTSW |
6 |
119,350,041 (GRCm38) |
missense |
possibly damaging |
0.85 |
R3757:Cacna2d4
|
UTSW |
6 |
119,241,163 (GRCm38) |
missense |
probably damaging |
0.98 |
R3976:Cacna2d4
|
UTSW |
6 |
119,278,173 (GRCm38) |
splice site |
probably null |
|
R4238:Cacna2d4
|
UTSW |
6 |
119,240,708 (GRCm38) |
missense |
probably null |
1.00 |
R4591:Cacna2d4
|
UTSW |
6 |
119,298,464 (GRCm38) |
missense |
probably benign |
0.02 |
R4856:Cacna2d4
|
UTSW |
6 |
119,278,256 (GRCm38) |
missense |
possibly damaging |
0.90 |
R4899:Cacna2d4
|
UTSW |
6 |
119,268,196 (GRCm38) |
nonsense |
probably null |
|
R5319:Cacna2d4
|
UTSW |
6 |
119,347,252 (GRCm38) |
critical splice donor site |
probably null |
|
R5351:Cacna2d4
|
UTSW |
6 |
119,268,201 (GRCm38) |
missense |
probably damaging |
1.00 |
R5366:Cacna2d4
|
UTSW |
6 |
119,274,318 (GRCm38) |
missense |
probably damaging |
1.00 |
R5393:Cacna2d4
|
UTSW |
6 |
119,239,054 (GRCm38) |
missense |
probably benign |
0.20 |
R5395:Cacna2d4
|
UTSW |
6 |
119,271,418 (GRCm38) |
missense |
possibly damaging |
0.71 |
R5408:Cacna2d4
|
UTSW |
6 |
119,348,791 (GRCm38) |
missense |
probably damaging |
1.00 |
R5603:Cacna2d4
|
UTSW |
6 |
119,244,285 (GRCm38) |
missense |
probably damaging |
1.00 |
R5661:Cacna2d4
|
UTSW |
6 |
119,343,531 (GRCm38) |
missense |
probably benign |
|
R5898:Cacna2d4
|
UTSW |
6 |
119,274,231 (GRCm38) |
missense |
probably damaging |
1.00 |
R5928:Cacna2d4
|
UTSW |
6 |
119,281,698 (GRCm38) |
missense |
probably benign |
0.06 |
R6186:Cacna2d4
|
UTSW |
6 |
119,281,689 (GRCm38) |
missense |
possibly damaging |
0.94 |
R6218:Cacna2d4
|
UTSW |
6 |
119,239,060 (GRCm38) |
missense |
probably damaging |
0.99 |
R6257:Cacna2d4
|
UTSW |
6 |
119,281,619 (GRCm38) |
critical splice acceptor site |
probably null |
|
R6409:Cacna2d4
|
UTSW |
6 |
119,282,228 (GRCm38) |
missense |
probably damaging |
0.99 |
R6931:Cacna2d4
|
UTSW |
6 |
119,282,234 (GRCm38) |
missense |
possibly damaging |
0.49 |
R7221:Cacna2d4
|
UTSW |
6 |
119,236,663 (GRCm38) |
missense |
probably benign |
0.02 |
R7363:Cacna2d4
|
UTSW |
6 |
119,343,978 (GRCm38) |
missense |
probably damaging |
1.00 |
R7371:Cacna2d4
|
UTSW |
6 |
119,308,709 (GRCm38) |
missense |
probably benign |
0.07 |
R7382:Cacna2d4
|
UTSW |
6 |
119,239,087 (GRCm38) |
missense |
probably damaging |
1.00 |
R7431:Cacna2d4
|
UTSW |
6 |
119,244,276 (GRCm38) |
missense |
probably damaging |
0.98 |
R7517:Cacna2d4
|
UTSW |
6 |
119,271,921 (GRCm38) |
missense |
probably benign |
0.01 |
R7527:Cacna2d4
|
UTSW |
6 |
119,271,247 (GRCm38) |
missense |
probably benign |
0.00 |
R7529:Cacna2d4
|
UTSW |
6 |
119,270,766 (GRCm38) |
missense |
probably benign |
0.01 |
R7710:Cacna2d4
|
UTSW |
6 |
119,274,239 (GRCm38) |
missense |
probably benign |
0.05 |
R7880:Cacna2d4
|
UTSW |
6 |
119,349,155 (GRCm38) |
missense |
probably damaging |
0.99 |
R8007:Cacna2d4
|
UTSW |
6 |
119,312,444 (GRCm38) |
missense |
probably benign |
|
R8084:Cacna2d4
|
UTSW |
6 |
119,300,352 (GRCm38) |
missense |
probably damaging |
1.00 |
R8159:Cacna2d4
|
UTSW |
6 |
119,297,527 (GRCm38) |
missense |
probably benign |
0.01 |
R8391:Cacna2d4
|
UTSW |
6 |
119,348,745 (GRCm38) |
missense |
probably benign |
0.04 |
R8700:Cacna2d4
|
UTSW |
6 |
119,281,693 (GRCm38) |
missense |
probably damaging |
1.00 |
R8857:Cacna2d4
|
UTSW |
6 |
119,271,948 (GRCm38) |
nonsense |
probably null |
|
R8973:Cacna2d4
|
UTSW |
6 |
119,241,181 (GRCm38) |
missense |
probably damaging |
1.00 |
R8976:Cacna2d4
|
UTSW |
6 |
119,338,157 (GRCm38) |
missense |
possibly damaging |
0.79 |
R8998:Cacna2d4
|
UTSW |
6 |
119,242,915 (GRCm38) |
missense |
possibly damaging |
0.90 |
R9129:Cacna2d4
|
UTSW |
6 |
119,336,454 (GRCm38) |
critical splice donor site |
probably null |
|
R9199:Cacna2d4
|
UTSW |
6 |
119,267,826 (GRCm38) |
missense |
probably benign |
0.12 |
R9228:Cacna2d4
|
UTSW |
6 |
119,271,515 (GRCm38) |
missense |
probably benign |
0.07 |
R9310:Cacna2d4
|
UTSW |
6 |
119,271,953 (GRCm38) |
critical splice donor site |
probably null |
|
R9315:Cacna2d4
|
UTSW |
6 |
119,236,709 (GRCm38) |
missense |
probably benign |
|
R9335:Cacna2d4
|
UTSW |
6 |
119,302,053 (GRCm38) |
missense |
probably damaging |
1.00 |
R9416:Cacna2d4
|
UTSW |
6 |
119,297,518 (GRCm38) |
missense |
probably benign |
0.06 |
R9514:Cacna2d4
|
UTSW |
6 |
119,236,650 (GRCm38) |
missense |
probably benign |
|
R9600:Cacna2d4
|
UTSW |
6 |
119,345,062 (GRCm38) |
missense |
probably benign |
0.02 |
RF023:Cacna2d4
|
UTSW |
6 |
119,268,230 (GRCm38) |
missense |
probably benign |
0.19 |
Z1176:Cacna2d4
|
UTSW |
6 |
119,312,450 (GRCm38) |
missense |
probably benign |
0.23 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCGATATAAGGTGAGCCTGAG -3'
(R):5'- GACCGTCGAGTTTCCTCTTG -3'
Sequencing Primer
(F):5'- GGATGGTACCTAAGCCACAGC -3'
(R):5'- CTTGTATGATCTGAGGAATTTTAGCC -3'
|
Posted On |
2015-04-30 |