Incidental Mutation 'IGL02516:Cacna2d4'
ID |
296805 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cacna2d4
|
Ensembl Gene |
ENSMUSG00000041460 |
Gene Name |
calcium channel, voltage-dependent, alpha 2/delta subunit 4 |
Synonyms |
5730412N02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02516
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 119248831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
AlphaFold |
Q5RJF7 |
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000186176
|
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: ENSMUST00000187222
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190015
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191331
|
Coding Region Coverage |
|
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 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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
C |
T |
8: 25,388,612 (GRCm39) |
S364N |
probably damaging |
Het |
Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
App |
T |
C |
16: 84,752,305 (GRCm39) |
T743A |
probably damaging |
Het |
Armc3 |
A |
G |
2: 19,305,317 (GRCm39) |
K692E |
possibly damaging |
Het |
Arpp21 |
T |
C |
9: 112,014,729 (GRCm39) |
N25S |
probably damaging |
Het |
Avpr1b |
G |
A |
1: 131,528,367 (GRCm39) |
V297I |
probably damaging |
Het |
Bpi |
A |
G |
2: 158,109,651 (GRCm39) |
I200V |
possibly damaging |
Het |
Cbarp |
A |
G |
10: 79,971,379 (GRCm39) |
Y149H |
probably damaging |
Het |
Ccdc85c |
T |
C |
12: 108,241,160 (GRCm39) |
N78S |
unknown |
Het |
Cdcp1 |
G |
T |
9: 123,002,702 (GRCm39) |
L790M |
possibly damaging |
Het |
Cdkn2d |
T |
A |
9: 21,200,439 (GRCm39) |
I111F |
probably benign |
Het |
Ctsr |
A |
G |
13: 61,310,992 (GRCm39) |
V18A |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,844,161 (GRCm39) |
D60G |
probably damaging |
Het |
Daw1 |
A |
C |
1: 83,186,949 (GRCm39) |
N253T |
probably benign |
Het |
Dcaf7 |
T |
A |
11: 105,942,698 (GRCm39) |
I215N |
probably damaging |
Het |
Ddc |
A |
C |
11: 11,779,125 (GRCm39) |
L333R |
probably damaging |
Het |
Dennd1a |
A |
G |
2: 37,742,406 (GRCm39) |
|
probably null |
Het |
Dnah10 |
C |
A |
5: 124,864,395 (GRCm39) |
T2200K |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,713,881 (GRCm39) |
Y1883C |
probably damaging |
Het |
Ecpas |
T |
C |
4: 58,877,102 (GRCm39) |
E111G |
probably damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,266,735 (GRCm39) |
I752N |
probably damaging |
Het |
Fcho2 |
A |
G |
13: 98,866,720 (GRCm39) |
I740T |
probably benign |
Het |
Flnc |
A |
G |
6: 29,450,840 (GRCm39) |
D1496G |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,676,482 (GRCm39) |
V583A |
possibly damaging |
Het |
Greb1l |
A |
C |
18: 10,537,064 (GRCm39) |
T1010P |
probably benign |
Het |
Hs3st6 |
T |
C |
17: 24,977,105 (GRCm39) |
L195P |
probably damaging |
Het |
Hyi |
A |
G |
4: 118,219,680 (GRCm39) |
E239G |
probably damaging |
Het |
Ighv2-3 |
G |
T |
12: 113,574,818 (GRCm39) |
Y112* |
probably null |
Het |
Ints3 |
A |
G |
3: 90,310,415 (GRCm39) |
F495S |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,102,728 (GRCm39) |
H802L |
probably benign |
Het |
Jag2 |
C |
T |
12: 112,874,186 (GRCm39) |
V990M |
probably damaging |
Het |
Kat6b |
T |
C |
14: 21,659,936 (GRCm39) |
|
probably benign |
Het |
Krtap4-8 |
C |
T |
11: 99,671,168 (GRCm39) |
|
probably benign |
Het |
Lhx4 |
A |
G |
1: 155,578,003 (GRCm39) |
S380P |
probably damaging |
Het |
Morn3 |
C |
A |
5: 123,175,363 (GRCm39) |
E33* |
probably null |
Het |
Mug2 |
C |
T |
6: 122,047,802 (GRCm39) |
A771V |
probably damaging |
Het |
N4bp3 |
A |
T |
11: 51,535,161 (GRCm39) |
S343T |
probably benign |
Het |
Nlrp1a |
T |
C |
11: 71,005,286 (GRCm39) |
N643S |
probably damaging |
Het |
Or2c1 |
A |
C |
16: 3,657,200 (GRCm39) |
D121A |
probably damaging |
Het |
Or2h1b |
T |
A |
17: 37,462,163 (GRCm39) |
R79S |
possibly damaging |
Het |
Or6c8 |
T |
A |
10: 128,915,662 (GRCm39) |
M57L |
possibly damaging |
Het |
Phc3 |
A |
G |
3: 31,002,942 (GRCm39) |
F192S |
probably damaging |
Het |
Pigq |
C |
T |
17: 26,156,221 (GRCm39) |
R69H |
probably benign |
Het |
Plk3 |
A |
G |
4: 116,989,186 (GRCm39) |
C222R |
probably damaging |
Het |
Pomt2 |
T |
C |
12: 87,166,420 (GRCm39) |
T490A |
probably benign |
Het |
Prss29 |
T |
C |
17: 25,539,875 (GRCm39) |
I91T |
probably damaging |
Het |
Ralgapb |
A |
T |
2: 158,307,735 (GRCm39) |
|
probably benign |
Het |
Sccpdh |
G |
A |
1: 179,509,256 (GRCm39) |
G75D |
probably damaging |
Het |
Serpine2 |
T |
C |
1: 79,772,714 (GRCm39) |
|
probably benign |
Het |
Sfr1 |
T |
G |
19: 47,721,429 (GRCm39) |
|
probably null |
Het |
Slc22a23 |
C |
A |
13: 34,387,938 (GRCm39) |
C386F |
probably benign |
Het |
Slc22a27 |
T |
C |
19: 7,842,176 (GRCm39) |
K433R |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,405,146 (GRCm39) |
L246P |
probably damaging |
Het |
Slc4a11 |
A |
G |
2: 130,533,313 (GRCm39) |
I191T |
possibly damaging |
Het |
Slc9c1 |
A |
G |
16: 45,398,238 (GRCm39) |
N668D |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,421,421 (GRCm39) |
D41E |
possibly damaging |
Het |
Tamalin |
G |
A |
15: 101,126,932 (GRCm39) |
V137I |
probably damaging |
Het |
Ugt2b37 |
A |
G |
5: 87,388,741 (GRCm39) |
S491P |
probably damaging |
Het |
Urb1 |
G |
T |
16: 90,569,583 (GRCm39) |
T1381N |
possibly damaging |
Het |
Usp8 |
A |
G |
2: 126,584,094 (GRCm39) |
I423M |
probably benign |
Het |
Vmn1r191 |
T |
A |
13: 22,363,710 (GRCm39) |
I15F |
probably benign |
Het |
Zbtb5 |
A |
T |
4: 44,993,798 (GRCm39) |
Y529N |
probably damaging |
Het |
Zfp541 |
T |
A |
7: 15,816,918 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cacna2d4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00391:Cacna2d4
|
APN |
6 |
119,314,894 (GRCm39) |
splice site |
probably benign |
|
IGL00469:Cacna2d4
|
APN |
6 |
119,245,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00518:Cacna2d4
|
APN |
6 |
119,320,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00946:Cacna2d4
|
APN |
6 |
119,248,876 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01447:Cacna2d4
|
APN |
6 |
119,219,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01514:Cacna2d4
|
APN |
6 |
119,259,134 (GRCm39) |
splice site |
probably benign |
|
IGL01576:Cacna2d4
|
APN |
6 |
119,258,602 (GRCm39) |
nonsense |
probably null |
|
IGL01934:Cacna2d4
|
APN |
6 |
119,285,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02231:Cacna2d4
|
APN |
6 |
119,254,869 (GRCm39) |
splice site |
probably benign |
|
IGL02688:Cacna2d4
|
APN |
6 |
119,247,710 (GRCm39) |
splice site |
probably null |
|
IGL03110:Cacna2d4
|
APN |
6 |
119,213,698 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03365:Cacna2d4
|
APN |
6 |
119,248,225 (GRCm39) |
missense |
probably benign |
0.15 |
saccharine
|
UTSW |
6 |
119,322,067 (GRCm39) |
splice site |
probably benign |
|
Steveo
|
UTSW |
6 |
119,324,213 (GRCm39) |
critical splice donor site |
probably null |
|
Sussmann
|
UTSW |
6 |
119,251,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R0139:Cacna2d4
|
UTSW |
6 |
119,255,230 (GRCm39) |
intron |
probably benign |
|
R0157:Cacna2d4
|
UTSW |
6 |
119,289,385 (GRCm39) |
missense |
probably benign |
0.00 |
R0158:Cacna2d4
|
UTSW |
6 |
119,213,709 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0245:Cacna2d4
|
UTSW |
6 |
119,285,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Cacna2d4
|
UTSW |
6 |
119,258,679 (GRCm39) |
splice site |
probably benign |
|
R0659:Cacna2d4
|
UTSW |
6 |
119,322,067 (GRCm39) |
splice site |
probably benign |
|
R0722:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0743:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0833:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0835:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0836:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0884:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1052:Cacna2d4
|
UTSW |
6 |
119,277,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1170:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1451:Cacna2d4
|
UTSW |
6 |
119,213,785 (GRCm39) |
missense |
probably benign |
0.01 |
R1564:Cacna2d4
|
UTSW |
6 |
119,218,156 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1809:Cacna2d4
|
UTSW |
6 |
119,247,785 (GRCm39) |
missense |
probably damaging |
0.99 |
R1936:Cacna2d4
|
UTSW |
6 |
119,247,722 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2078:Cacna2d4
|
UTSW |
6 |
119,315,077 (GRCm39) |
missense |
probably benign |
0.02 |
R2198:Cacna2d4
|
UTSW |
6 |
119,324,220 (GRCm39) |
splice site |
probably benign |
|
R2280:Cacna2d4
|
UTSW |
6 |
119,327,002 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3757:Cacna2d4
|
UTSW |
6 |
119,218,124 (GRCm39) |
missense |
probably damaging |
0.98 |
R3975:Cacna2d4
|
UTSW |
6 |
119,255,134 (GRCm39) |
splice site |
probably null |
|
R3976:Cacna2d4
|
UTSW |
6 |
119,255,134 (GRCm39) |
splice site |
probably null |
|
R4238:Cacna2d4
|
UTSW |
6 |
119,217,669 (GRCm39) |
missense |
probably null |
1.00 |
R4591:Cacna2d4
|
UTSW |
6 |
119,275,425 (GRCm39) |
missense |
probably benign |
0.02 |
R4856:Cacna2d4
|
UTSW |
6 |
119,255,217 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4899:Cacna2d4
|
UTSW |
6 |
119,245,157 (GRCm39) |
nonsense |
probably null |
|
R5319:Cacna2d4
|
UTSW |
6 |
119,324,213 (GRCm39) |
critical splice donor site |
probably null |
|
R5351:Cacna2d4
|
UTSW |
6 |
119,245,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R5366:Cacna2d4
|
UTSW |
6 |
119,251,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R5393:Cacna2d4
|
UTSW |
6 |
119,216,015 (GRCm39) |
missense |
probably benign |
0.20 |
R5395:Cacna2d4
|
UTSW |
6 |
119,248,379 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5408:Cacna2d4
|
UTSW |
6 |
119,325,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R5603:Cacna2d4
|
UTSW |
6 |
119,221,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R5661:Cacna2d4
|
UTSW |
6 |
119,320,492 (GRCm39) |
missense |
probably benign |
|
R5898:Cacna2d4
|
UTSW |
6 |
119,251,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R5928:Cacna2d4
|
UTSW |
6 |
119,258,659 (GRCm39) |
missense |
probably benign |
0.06 |
R6186:Cacna2d4
|
UTSW |
6 |
119,258,650 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6218:Cacna2d4
|
UTSW |
6 |
119,216,021 (GRCm39) |
missense |
probably damaging |
0.99 |
R6257:Cacna2d4
|
UTSW |
6 |
119,258,580 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6409:Cacna2d4
|
UTSW |
6 |
119,259,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R6931:Cacna2d4
|
UTSW |
6 |
119,259,195 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7221:Cacna2d4
|
UTSW |
6 |
119,213,624 (GRCm39) |
missense |
probably benign |
0.02 |
R7363:Cacna2d4
|
UTSW |
6 |
119,320,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7371:Cacna2d4
|
UTSW |
6 |
119,285,670 (GRCm39) |
missense |
probably benign |
0.07 |
R7382:Cacna2d4
|
UTSW |
6 |
119,216,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R7431:Cacna2d4
|
UTSW |
6 |
119,221,237 (GRCm39) |
missense |
probably damaging |
0.98 |
R7517:Cacna2d4
|
UTSW |
6 |
119,248,882 (GRCm39) |
missense |
probably benign |
0.01 |
R7527:Cacna2d4
|
UTSW |
6 |
119,248,208 (GRCm39) |
missense |
probably benign |
0.00 |
R7529:Cacna2d4
|
UTSW |
6 |
119,247,727 (GRCm39) |
missense |
probably benign |
0.01 |
R7710:Cacna2d4
|
UTSW |
6 |
119,251,200 (GRCm39) |
missense |
probably benign |
0.05 |
R7880:Cacna2d4
|
UTSW |
6 |
119,326,116 (GRCm39) |
missense |
probably damaging |
0.99 |
R8007:Cacna2d4
|
UTSW |
6 |
119,289,405 (GRCm39) |
missense |
probably benign |
|
R8084:Cacna2d4
|
UTSW |
6 |
119,277,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R8159:Cacna2d4
|
UTSW |
6 |
119,274,488 (GRCm39) |
missense |
probably benign |
0.01 |
R8391:Cacna2d4
|
UTSW |
6 |
119,325,706 (GRCm39) |
missense |
probably benign |
0.04 |
R8700:Cacna2d4
|
UTSW |
6 |
119,258,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R8857:Cacna2d4
|
UTSW |
6 |
119,248,909 (GRCm39) |
nonsense |
probably null |
|
R8973:Cacna2d4
|
UTSW |
6 |
119,218,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R8976:Cacna2d4
|
UTSW |
6 |
119,315,118 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8998:Cacna2d4
|
UTSW |
6 |
119,219,876 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9129:Cacna2d4
|
UTSW |
6 |
119,313,415 (GRCm39) |
critical splice donor site |
probably null |
|
R9199:Cacna2d4
|
UTSW |
6 |
119,244,787 (GRCm39) |
missense |
probably benign |
0.12 |
R9228:Cacna2d4
|
UTSW |
6 |
119,248,476 (GRCm39) |
missense |
probably benign |
0.07 |
R9310:Cacna2d4
|
UTSW |
6 |
119,248,914 (GRCm39) |
critical splice donor site |
probably null |
|
R9315:Cacna2d4
|
UTSW |
6 |
119,213,670 (GRCm39) |
missense |
probably benign |
|
R9335:Cacna2d4
|
UTSW |
6 |
119,279,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R9416:Cacna2d4
|
UTSW |
6 |
119,274,479 (GRCm39) |
missense |
probably benign |
0.06 |
R9514:Cacna2d4
|
UTSW |
6 |
119,213,611 (GRCm39) |
missense |
probably benign |
|
R9600:Cacna2d4
|
UTSW |
6 |
119,322,023 (GRCm39) |
missense |
probably benign |
0.02 |
RF023:Cacna2d4
|
UTSW |
6 |
119,245,191 (GRCm39) |
missense |
probably benign |
0.19 |
Z1176:Cacna2d4
|
UTSW |
6 |
119,289,411 (GRCm39) |
missense |
probably benign |
0.23 |
|
Posted On |
2015-04-16 |