Incidental Mutation 'R8976:Cacna2d4'
| ID |
683438 |
| 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 |
068810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8976 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119315118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 883
(I883F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037434
AA Change: I908F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: I908F
| 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 |
possibly damaging
Transcript: ENSMUST00000186622
AA Change: I883F
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: I883F
| 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 |
|
| Meta Mutation Damage Score |
0.1249 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (60/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
A |
G |
3: 87,635,321 (GRCm39) |
I906V |
probably benign |
Het |
| Atad2b |
T |
A |
12: 4,967,923 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,772,819 (GRCm39) |
D1243E |
probably benign |
Het |
| Baiap2l1 |
A |
T |
5: 144,223,117 (GRCm39) |
H73Q |
probably benign |
Het |
| Bdp1 |
C |
A |
13: 100,197,407 (GRCm39) |
G993* |
probably null |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Crem |
A |
G |
18: 3,268,088 (GRCm39) |
V80A |
possibly damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,479,399 (GRCm39) |
K62E |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,917,666 (GRCm39) |
I4132F |
probably damaging |
Het |
| Dnm3 |
G |
A |
1: 162,135,505 (GRCm39) |
P423S |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,558,969 (GRCm39) |
V572L |
probably benign |
Het |
| F12 |
T |
A |
13: 55,569,777 (GRCm39) |
|
probably benign |
Het |
| F2 |
A |
G |
2: 91,466,738 (GRCm39) |
S2P |
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,329,451 (GRCm39) |
E436G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,484,332 (GRCm39) |
V3190A |
probably benign |
Het |
| Flnb |
A |
T |
14: 7,901,882 (GRCm38) |
|
probably null |
Het |
| Frs3 |
A |
T |
17: 48,009,546 (GRCm39) |
D9V |
probably benign |
Het |
| Galnt17 |
T |
G |
5: 130,935,543 (GRCm39) |
E380A |
probably benign |
Het |
| Glrb |
A |
C |
3: 80,758,363 (GRCm39) |
V350G |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,486 (GRCm39) |
K1336M |
possibly damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,650 (GRCm39) |
V159E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,659 (GRCm39) |
E310G |
probably damaging |
Het |
| Il2rb |
C |
T |
15: 78,370,681 (GRCm39) |
D145N |
probably benign |
Het |
| Iqcb1 |
A |
G |
16: 36,692,005 (GRCm39) |
I535V |
probably benign |
Het |
| Keap1 |
A |
C |
9: 21,142,663 (GRCm39) |
L531V |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,957 (GRCm39) |
W456R |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,183,329 (GRCm39) |
H1910Q |
probably damaging |
Het |
| Mybphl |
G |
A |
3: 108,272,334 (GRCm39) |
E8K |
probably damaging |
Het |
| Odad3 |
T |
A |
9: 21,903,334 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,363 (GRCm39) |
S26G |
probably benign |
Het |
| Or10a4 |
T |
C |
7: 106,697,466 (GRCm39) |
S265P |
possibly damaging |
Het |
| Or5p73 |
T |
A |
7: 108,064,630 (GRCm39) |
I33N |
possibly damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,885 (GRCm39) |
V284A |
probably damaging |
Het |
| Or7a38 |
T |
C |
10: 78,753,418 (GRCm39) |
I248T |
possibly damaging |
Het |
| Or7g22 |
T |
A |
9: 19,049,141 (GRCm39) |
M284K |
probably damaging |
Het |
| Pcdhb22 |
G |
A |
18: 37,651,396 (GRCm39) |
|
probably benign |
Het |
| Plekha8 |
A |
T |
6: 54,607,521 (GRCm39) |
E376V |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,638,037 (GRCm39) |
V144A |
possibly damaging |
Het |
| Pramel34 |
T |
A |
5: 93,785,977 (GRCm39) |
N101I |
probably damaging |
Het |
| Prr18 |
T |
C |
17: 8,560,047 (GRCm39) |
S68P |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,461,669 (GRCm39) |
R1153H |
probably damaging |
Het |
| Pus1 |
A |
G |
5: 110,922,789 (GRCm39) |
F293L |
possibly damaging |
Het |
| Shank3 |
A |
G |
15: 89,442,381 (GRCm39) |
E1758G |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,057,851 (GRCm39) |
I167N |
probably damaging |
Het |
| Ski |
A |
G |
4: 155,242,411 (GRCm39) |
S663P |
probably damaging |
Het |
| Slc49a3 |
A |
C |
5: 108,589,897 (GRCm39) |
S502A |
probably benign |
Het |
| Spa17 |
C |
T |
9: 37,523,254 (GRCm39) |
R11Q |
possibly damaging |
Het |
| Spag5 |
T |
C |
11: 78,195,413 (GRCm39) |
V240A |
probably benign |
Het |
| Srl |
A |
T |
16: 4,300,894 (GRCm39) |
Y726N |
probably damaging |
Het |
| Ssbp4 |
A |
T |
8: 71,052,336 (GRCm39) |
|
probably null |
Het |
| Surf1 |
A |
T |
2: 26,805,767 (GRCm39) |
C48S |
probably benign |
Het |
| Tigd3 |
G |
A |
19: 5,941,853 (GRCm39) |
P426S |
probably benign |
Het |
| Tmem176b |
A |
G |
6: 48,812,600 (GRCm39) |
S122P |
probably damaging |
Het |
| Trim23 |
G |
T |
13: 104,328,545 (GRCm39) |
L355F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,545,110 (GRCm39) |
T32664M |
probably damaging |
Het |
| Ulk3 |
T |
A |
9: 57,502,220 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,511,169 (GRCm39) |
H59R |
possibly damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,719 (GRCm39) |
I91V |
probably benign |
Het |
| Vmn2r10 |
T |
A |
5: 109,145,479 (GRCm39) |
N543Y |
probably damaging |
Het |
| Zbtb14 |
G |
A |
17: 69,694,752 (GRCm39) |
R150H |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,079 (GRCm39) |
Y585H |
possibly damaging |
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 |
|
|
IGL02516:Cacna2d4
|
APN |
6 |
119,248,831 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCACAGGTTCAGTGTCC -3'
(R):5'- TTGCATTTGAATGGTGCTCC -3'
Sequencing Primer
(F):5'- GTGGACTACTTCTTCCTCAAAGG -3'
(R):5'- AATGGTGCTCCTTGTTTGGAATC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation