Incidental Mutation 'R7710:Cacna2d4'
ID |
594531 |
Institutional Source |
Beutler Lab
|
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 # |
R7710 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119251200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 463
(I463V)
|
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: I463V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000044660 Gene: ENSMUSG00000041460 AA Change: I463V
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
AA Change: I463V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000140197 Gene: ENSMUSG00000041460 AA Change: I463V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,150,810 (GRCm39) |
E151K |
|
Het |
Ap3b1 |
T |
C |
13: 94,587,581 (GRCm39) |
S452P |
probably damaging |
Het |
Calhm4 |
A |
T |
10: 33,920,045 (GRCm39) |
M74K |
possibly damaging |
Het |
Ccdc142 |
T |
C |
6: 83,078,677 (GRCm39) |
S5P |
probably benign |
Het |
Cd300ld |
C |
T |
11: 114,875,038 (GRCm39) |
V199M |
probably damaging |
Het |
Cep162 |
T |
C |
9: 87,114,172 (GRCm39) |
Y300C |
probably damaging |
Het |
Ces2h |
C |
T |
8: 105,727,497 (GRCm39) |
Q5* |
probably null |
Het |
Col9a3 |
C |
T |
2: 180,251,158 (GRCm39) |
L310F |
probably damaging |
Het |
Copa |
A |
G |
1: 171,937,411 (GRCm39) |
D454G |
possibly damaging |
Het |
Ctnnbip1 |
A |
C |
4: 149,630,277 (GRCm39) |
M29L |
probably benign |
Het |
Ctnnbl1 |
A |
G |
2: 157,616,491 (GRCm39) |
D64G |
probably benign |
Het |
Dcxr |
T |
A |
11: 120,617,908 (GRCm39) |
T23S |
probably benign |
Het |
Dennd1b |
T |
A |
1: 138,990,670 (GRCm39) |
H211Q |
probably damaging |
Het |
Ercc8 |
G |
A |
13: 108,320,397 (GRCm39) |
A328T |
probably benign |
Het |
Fam217a |
T |
C |
13: 35,095,111 (GRCm39) |
D216G |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,201,589 (GRCm39) |
Y495F |
probably benign |
Het |
Fbxw13 |
G |
A |
9: 109,024,968 (GRCm39) |
S15F |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,792,962 (GRCm39) |
C964* |
probably null |
Het |
Fshr |
T |
A |
17: 89,292,683 (GRCm39) |
H665L |
probably benign |
Het |
Gm10447 |
A |
T |
11: 53,347,437 (GRCm39) |
C31S |
unknown |
Het |
Gm13272 |
A |
T |
4: 88,698,586 (GRCm39) |
Q167L |
probably benign |
Het |
Gtpbp2 |
T |
C |
17: 46,478,713 (GRCm39) |
I510T |
possibly damaging |
Het |
Hps6 |
G |
A |
19: 45,993,007 (GRCm39) |
A315T |
probably benign |
Het |
Igfbp6 |
A |
C |
15: 102,056,285 (GRCm39) |
T115P |
probably damaging |
Het |
Ikzf4 |
A |
G |
10: 128,468,610 (GRCm39) |
V623A |
possibly damaging |
Het |
Il11ra1 |
T |
C |
4: 41,764,846 (GRCm39) |
V100A |
probably benign |
Het |
Ints1 |
T |
C |
5: 139,756,840 (GRCm39) |
T493A |
probably benign |
Het |
Itgax |
C |
T |
7: 127,735,028 (GRCm39) |
T453I |
probably benign |
Het |
Kras |
T |
C |
6: 145,166,354 (GRCm39) |
T183A |
probably benign |
Het |
Lhcgr |
T |
C |
17: 89,050,210 (GRCm39) |
T439A |
probably damaging |
Het |
Lrrn4 |
T |
C |
2: 132,721,451 (GRCm39) |
H122R |
probably benign |
Het |
Muc2 |
A |
T |
7: 141,287,452 (GRCm39) |
R210S |
possibly damaging |
Het |
Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
Myo18b |
T |
C |
5: 113,022,891 (GRCm39) |
D167G |
unknown |
Het |
Nedd8 |
G |
A |
14: 55,909,446 (GRCm39) |
|
probably benign |
Het |
Or5b94 |
A |
C |
19: 12,652,340 (GRCm39) |
Y257S |
probably damaging |
Het |
Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
Pbxip1 |
T |
A |
3: 89,355,408 (GRCm39) |
D642E |
probably damaging |
Het |
Pcdhb10 |
A |
T |
18: 37,546,654 (GRCm39) |
R577* |
probably null |
Het |
Pcna-ps2 |
T |
A |
19: 9,261,489 (GRCm39) |
Y249* |
probably null |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pla2g6 |
A |
T |
15: 79,171,358 (GRCm39) |
V744E |
probably damaging |
Het |
Ppfibp1 |
A |
G |
6: 146,897,903 (GRCm39) |
I207V |
probably benign |
Het |
Prr11 |
T |
C |
11: 86,994,433 (GRCm39) |
D71G |
probably benign |
Het |
Rnf150 |
A |
C |
8: 83,590,781 (GRCm39) |
Y48S |
probably damaging |
Het |
Rsf1 |
G |
A |
7: 97,331,041 (GRCm39) |
G1237D |
|
Het |
Rusc2 |
C |
T |
4: 43,416,119 (GRCm39) |
T475I |
probably benign |
Het |
Scgb1b20 |
T |
A |
7: 33,072,867 (GRCm39) |
I25N |
probably damaging |
Het |
Sdr39u1 |
T |
C |
14: 56,137,116 (GRCm39) |
N65S |
probably benign |
Het |
Sh3gl3 |
T |
C |
7: 81,933,294 (GRCm39) |
V219A |
possibly damaging |
Het |
Shcbp1 |
A |
G |
8: 4,814,965 (GRCm39) |
F171S |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,648,006 (GRCm39) |
F6S |
probably damaging |
Het |
Slc12a4 |
C |
T |
8: 106,672,203 (GRCm39) |
R868H |
possibly damaging |
Het |
Smg6 |
T |
C |
11: 74,821,445 (GRCm39) |
V572A |
probably benign |
Het |
Syn3 |
A |
G |
10: 86,243,534 (GRCm39) |
V135A |
probably damaging |
Het |
Tars3 |
A |
T |
7: 65,314,717 (GRCm39) |
D425V |
probably benign |
Het |
Tmem253 |
A |
T |
14: 52,254,608 (GRCm39) |
Q21L |
possibly damaging |
Het |
Trpm3 |
G |
T |
19: 22,896,154 (GRCm39) |
R997L |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
Ugt1a9 |
A |
G |
1: 87,998,831 (GRCm39) |
T94A |
probably benign |
Het |
Vmn1r62 |
A |
G |
7: 5,678,182 (GRCm39) |
|
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,916,472 (GRCm39) |
C362R |
probably damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp94 |
T |
C |
7: 24,003,107 (GRCm39) |
K112E |
probably benign |
Het |
Zfp954 |
A |
T |
7: 7,120,889 (GRCm39) |
V47E |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGAGAAGGCCTTTCTTTG -3'
(R):5'- GCACAACGTTAGACTCTCCG -3'
Sequencing Primer
(F):5'- TGTCTTGTACTAGGAGACAAGGC -3'
(R):5'- GTTAGACTCTCCGGACCAAGATGTC -3'
|
Posted On |
2019-11-12 |