Incidental Mutation 'R1168:Cacna2d4'
| ID |
101300 |
| 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 |
039241-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1168 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119284247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 745
(R745W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037434
AA Change: R770W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: R770W
| 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 damaging
Transcript: ENSMUST00000186622
AA Change: R745W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: R745W
| 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 |
0.6242 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.2%
- 20x: 88.8%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,661 (GRCm39) |
V950A |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,865,280 (GRCm39) |
S188T |
probably benign |
Het |
| Ahr |
A |
T |
12: 35,554,531 (GRCm39) |
N529K |
possibly damaging |
Het |
| Akr1c21 |
A |
G |
13: 4,633,836 (GRCm39) |
N302D |
probably benign |
Het |
| Aldh8a1 |
T |
A |
10: 21,260,530 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,753,105 (GRCm39) |
K1554M |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,250,330 (GRCm39) |
H360Q |
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,306,130 (GRCm39) |
I1293V |
probably damaging |
Het |
| Cd200r4 |
T |
A |
16: 44,653,307 (GRCm39) |
W72R |
probably damaging |
Het |
| Ces2e |
A |
T |
8: 105,653,646 (GRCm39) |
D28V |
possibly damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,442,939 (GRCm38) |
N610S |
probably benign |
Het |
| Cfap45 |
T |
C |
1: 172,373,264 (GRCm39) |
Y534H |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,773,782 (GRCm39) |
C87S |
probably damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,675,931 (GRCm39) |
M67L |
possibly damaging |
Het |
| Cplx3 |
G |
A |
9: 57,515,595 (GRCm39) |
R427C |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,501,631 (GRCm39) |
N290Y |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,483,489 (GRCm39) |
M94L |
probably damaging |
Het |
| Fam83d |
C |
T |
2: 158,610,443 (GRCm39) |
A137V |
probably benign |
Het |
| Foxd2 |
C |
T |
4: 114,764,875 (GRCm39) |
A382T |
possibly damaging |
Het |
| Galnt11 |
T |
G |
5: 25,455,244 (GRCm39) |
S193R |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,594,481 (GRCm39) |
D856E |
probably damaging |
Het |
| Gclm |
T |
A |
3: 122,056,337 (GRCm39) |
H86Q |
possibly damaging |
Het |
| Gipc2 |
T |
C |
3: 151,813,634 (GRCm39) |
T220A |
probably benign |
Het |
| Gm12185 |
G |
T |
11: 48,806,182 (GRCm39) |
N336K |
possibly damaging |
Het |
| Gm5431 |
A |
T |
11: 48,786,191 (GRCm39) |
S61R |
probably benign |
Het |
| Gorasp2 |
C |
T |
2: 70,518,744 (GRCm39) |
P260S |
probably damaging |
Het |
| H2-M10.6 |
A |
G |
17: 37,124,052 (GRCm39) |
Q172R |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,450,018 (GRCm39) |
I6V |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,666,658 (GRCm39) |
Y593C |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,495,138 (GRCm39) |
K429R |
probably damaging |
Het |
| Itln1 |
G |
T |
1: 171,359,119 (GRCm39) |
Y61* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,877,956 (GRCm39) |
T284I |
probably damaging |
Het |
| Kif3a |
G |
A |
11: 53,489,139 (GRCm39) |
G621R |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,536,317 (GRCm39) |
Y549C |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,509,776 (GRCm39) |
|
probably benign |
Het |
| Map4 |
T |
C |
9: 109,864,032 (GRCm39) |
V419A |
probably benign |
Het |
| Mastl |
A |
T |
2: 23,023,144 (GRCm39) |
D526E |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,486,914 (GRCm39) |
D308G |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,578 (GRCm39) |
F34S |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,253,009 (GRCm39) |
T593A |
probably benign |
Het |
| Ndst3 |
C |
T |
3: 123,400,617 (GRCm39) |
V15I |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,915,313 (GRCm39) |
N1166D |
probably benign |
Het |
| Or1a1 |
A |
G |
11: 74,087,247 (GRCm39) |
H306R |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,787 (GRCm39) |
S147P |
probably benign |
Het |
| Or4a68 |
G |
A |
2: 89,270,213 (GRCm39) |
Q137* |
probably null |
Het |
| Or5m8 |
A |
T |
2: 85,823,028 (GRCm39) |
Y289F |
probably damaging |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,780 (GRCm39) |
I486T |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,152 (GRCm39) |
Y768F |
probably benign |
Het |
| Pgf |
A |
G |
12: 85,218,541 (GRCm39) |
S70P |
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,914,100 (GRCm39) |
A370T |
possibly damaging |
Het |
| Pnkp |
T |
A |
7: 44,511,961 (GRCm39) |
W115R |
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prag1 |
A |
G |
8: 36,613,799 (GRCm39) |
E1117G |
probably damaging |
Het |
| Prr12 |
T |
A |
7: 44,678,471 (GRCm39) |
Q1919L |
unknown |
Het |
| Ret |
G |
T |
6: 118,150,519 (GRCm39) |
H666N |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,745,184 (GRCm39) |
G864S |
probably damaging |
Het |
| Rpa2 |
T |
G |
4: 132,499,171 (GRCm39) |
I80S |
probably damaging |
Het |
| Ryk |
A |
T |
9: 102,775,674 (GRCm39) |
D428V |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,901,204 (GRCm39) |
N30K |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,752,795 (GRCm39) |
N95S |
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,176,335 (GRCm39) |
E212G |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,427,568 (GRCm39) |
T7A |
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
| Tmem132b |
G |
T |
5: 125,864,083 (GRCm39) |
V730F |
probably damaging |
Het |
| Tmub2 |
G |
A |
11: 102,178,196 (GRCm39) |
G33D |
possibly damaging |
Het |
| Trak1 |
G |
A |
9: 121,269,745 (GRCm39) |
D124N |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,378,977 (GRCm39) |
Y1154F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,739,713 (GRCm39) |
T3609A |
probably benign |
Het |
| Tulp2 |
A |
G |
7: 45,167,266 (GRCm39) |
T99A |
probably benign |
Het |
| Ugt2a2 |
A |
T |
5: 87,613,427 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,410,608 (GRCm39) |
V2419I |
probably benign |
Het |
| Vill |
C |
A |
9: 118,899,389 (GRCm39) |
P343Q |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,062 (GRCm39) |
H318L |
possibly damaging |
Het |
| Wdr3 |
A |
C |
3: 100,049,535 (GRCm39) |
N800K |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,398,922 (GRCm39) |
K19E |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,806,436 (GRCm39) |
S333P |
probably damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,500 (GRCm39) |
S488P |
possibly damaging |
Het |
| Zfp804a |
A |
G |
2: 82,087,041 (GRCm39) |
E290G |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation