Incidental Mutation 'R8973:Cacna2d4'
| ID |
683238 |
| 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 |
068807-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8973 (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 G
at 119218142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 159
(D159G)
|
| 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: D159G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: D159G
| 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: D159G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: D159G
| 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 |
0.1151 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (77/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
T |
13: 70,886,959 (GRCm39) |
I975N |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,570,984 (GRCm39) |
*1250Q |
probably null |
Het |
| Anapc1 |
A |
T |
2: 128,505,952 (GRCm39) |
I628N |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,578,439 (GRCm39) |
|
probably benign |
Het |
| Ankub1 |
A |
T |
3: 57,572,932 (GRCm39) |
S263R |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,024,325 (GRCm39) |
I94V |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,329,113 (GRCm39) |
D186G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,855,668 (GRCm39) |
C589* |
probably null |
Het |
| Armt1 |
T |
C |
10: 4,389,550 (GRCm39) |
L69P |
probably damaging |
Het |
| Atxn7l3 |
T |
A |
11: 102,183,598 (GRCm39) |
Y185F |
probably benign |
Het |
| Camta2 |
C |
A |
11: 70,561,184 (GRCm39) |
R1184L |
probably benign |
Het |
| Ccdc192 |
T |
G |
18: 57,725,139 (GRCm39) |
L123V |
possibly damaging |
Het |
| Ccr7 |
G |
A |
11: 99,036,649 (GRCm39) |
T91I |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,831,131 (GRCm39) |
T323A |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Clec2e |
C |
A |
6: 129,070,374 (GRCm39) |
G216* |
probably null |
Het |
| Col25a1 |
T |
C |
3: 130,269,275 (GRCm39) |
S176P |
unknown |
Het |
| Col4a3 |
A |
C |
1: 82,693,052 (GRCm39) |
I1446L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,233,277 (GRCm39) |
W1201R |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,785,000 (GRCm39) |
E823G |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,456,293 (GRCm39) |
T780A |
|
Het |
| Dchs2 |
A |
G |
3: 83,261,763 (GRCm39) |
E2677G |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,246,824 (GRCm39) |
E77G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,121,734 (GRCm39) |
D1416G |
probably benign |
Het |
| Dpyd |
T |
C |
3: 119,108,582 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,267,936 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dusp13b |
A |
C |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
| Emilin2 |
T |
G |
17: 71,582,079 (GRCm39) |
K216Q |
probably benign |
Het |
| Enam |
T |
C |
5: 88,641,947 (GRCm39) |
W254R |
possibly damaging |
Het |
| Esrrg |
A |
C |
1: 187,930,947 (GRCm39) |
N346T |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,479,132 (GRCm39) |
L373P |
|
Het |
| Gm21060 |
C |
A |
19: 61,285,366 (GRCm39) |
V48L |
possibly damaging |
Het |
| Gtpbp3 |
T |
C |
8: 71,943,806 (GRCm39) |
V254A |
possibly damaging |
Het |
| H2-DMb2 |
A |
G |
17: 34,367,699 (GRCm39) |
D171G |
probably damaging |
Het |
| Hrg |
A |
T |
16: 22,777,968 (GRCm39) |
T242S |
probably benign |
Het |
| Inf2 |
G |
T |
12: 112,573,949 (GRCm39) |
C751F |
unknown |
Het |
| Krt13 |
A |
T |
11: 100,010,264 (GRCm39) |
M239K |
possibly damaging |
Het |
| Lrrc72 |
A |
G |
12: 36,303,293 (GRCm39) |
S7P |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,433,196 (GRCm39) |
I867V |
probably benign |
Het |
| Mdh2 |
C |
T |
5: 135,819,019 (GRCm39) |
A325V |
possibly damaging |
Het |
| Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
| Mrpl16 |
A |
T |
19: 11,750,307 (GRCm39) |
R64* |
probably null |
Het |
| Nav1 |
T |
C |
1: 135,512,463 (GRCm39) |
D199G |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,585 (GRCm39) |
V662A |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,931,321 (GRCm38) |
|
probably null |
Het |
| Or14a257 |
A |
G |
7: 86,138,487 (GRCm39) |
S91P |
probably damaging |
Het |
| Or5t18 |
C |
A |
2: 86,637,200 (GRCm39) |
V48F |
probably benign |
Het |
| Or7g12 |
C |
A |
9: 18,899,974 (GRCm39) |
S230* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,958,839 (GRCm39) |
V107D |
possibly damaging |
Het |
| Pcsk7 |
T |
G |
9: 45,838,940 (GRCm39) |
S617R |
probably benign |
Het |
| Pde10a |
C |
A |
17: 9,143,071 (GRCm39) |
Q6K |
probably benign |
Het |
| Pigq |
A |
C |
17: 26,151,141 (GRCm39) |
M396R |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,449,833 (GRCm39) |
D3865E |
probably damaging |
Het |
| Prag1 |
C |
T |
8: 36,566,744 (GRCm39) |
|
probably benign |
Het |
| Rbis |
C |
T |
3: 14,672,305 (GRCm39) |
V97I |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,016,728 (GRCm39) |
T498A |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,352,756 (GRCm39) |
F3921I |
|
Het |
| Rpp14 |
A |
G |
14: 8,088,768 (GRCm38) |
S95G |
probably benign |
Het |
| Ryk |
T |
G |
9: 102,739,120 (GRCm39) |
Y78D |
possibly damaging |
Het |
| Sez6 |
A |
T |
11: 77,865,397 (GRCm39) |
Q678L |
probably damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,402 (GRCm39) |
K141E |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,943,202 (GRCm39) |
I609K |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,538 (GRCm39) |
F244L |
probably damaging |
Het |
| Spata31e1 |
A |
T |
13: 49,941,715 (GRCm39) |
D80E |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,911,572 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Syne3 |
A |
G |
12: 104,925,654 (GRCm39) |
|
probably null |
Het |
| Tbcd |
G |
C |
11: 121,387,679 (GRCm39) |
|
probably benign |
Het |
| Tektip1 |
T |
C |
10: 81,199,849 (GRCm39) |
D129G |
unknown |
Het |
| Tmc1 |
A |
T |
19: 20,878,215 (GRCm39) |
N93K |
probably benign |
Het |
| Tmem100 |
T |
A |
11: 89,926,302 (GRCm39) |
M43K |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,836,039 (GRCm39) |
V690D |
probably damaging |
Het |
| Trim8 |
A |
G |
19: 46,503,903 (GRCm39) |
Q485R |
possibly damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,919 (GRCm39) |
H206Q |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,452,150 (GRCm39) |
N443K |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,387,578 (GRCm39) |
I4878F |
unknown |
Het |
| Zfand4 |
A |
G |
6: 116,291,041 (GRCm39) |
D344G |
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 |
|
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 |
|
|
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'- CTCAGAACAACCATGGAGGG -3'
(R):5'- TCCTTCTCCGAGAGCCTTAG -3'
Sequencing Primer
(F):5'- GTTGACCCTCATGGATGAAAGGC -3'
(R):5'- TCTCCGAGAGCCTTAGGAGGTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation