Incidental Mutation 'R7382:Cacna2d4'
| ID |
572794 |
| 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 |
045464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119216048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 105
(S105F)
|
| 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: S105F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: S105F
| 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: S105F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: S105F
| 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 |
0.1624 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (77/78) |
| 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 |
|---|
| 2610008E11Rik |
A |
T |
10: 78,903,103 (GRCm39) |
H404Q |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,651,037 (GRCm39) |
M53K |
probably benign |
Het |
| Adam8 |
T |
A |
7: 139,570,020 (GRCm39) |
T82S |
possibly damaging |
Het |
| Adgrl2 |
T |
G |
3: 148,522,919 (GRCm39) |
Q435P |
|
Het |
| Ahr |
A |
T |
12: 35,554,514 (GRCm39) |
M535K |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,954 (GRCm39) |
I2123V |
probably benign |
Het |
| Ankrd2 |
G |
T |
19: 42,033,411 (GRCm39) |
G318C |
|
Het |
| Ap4e1 |
T |
A |
2: 126,850,822 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
G |
A |
14: 59,892,043 (GRCm39) |
P1102S |
probably benign |
Het |
| Cad |
C |
A |
5: 31,233,173 (GRCm39) |
P1872T |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,904,269 (GRCm39) |
F251L |
probably benign |
Het |
| Ccdc18 |
C |
A |
5: 108,286,873 (GRCm39) |
Q136K |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,288,271 (GRCm39) |
|
probably null |
Het |
| Cd209d |
A |
T |
8: 3,927,965 (GRCm39) |
Y46* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,208,262 (GRCm39) |
M728K |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,944 (GRCm39) |
D866G |
probably damaging |
Het |
| Cenpl |
A |
G |
1: 160,906,031 (GRCm39) |
H135R |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,681,451 (GRCm39) |
L63* |
probably null |
Het |
| Cpeb4 |
A |
G |
11: 31,822,828 (GRCm39) |
T181A |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,094,169 (GRCm39) |
E830G |
probably damaging |
Het |
| Endou |
T |
A |
15: 97,616,807 (GRCm39) |
K239* |
probably null |
Het |
| Ezh2 |
T |
C |
6: 47,528,770 (GRCm39) |
N263S |
possibly damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,697,314 (GRCm39) |
D351G |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,862,669 (GRCm39) |
Y1720* |
probably null |
Het |
| Fmo9 |
A |
T |
1: 166,491,229 (GRCm39) |
|
probably null |
Het |
| Frmpd1 |
T |
A |
4: 45,278,880 (GRCm39) |
V535E |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,382 (GRCm39) |
V139A |
probably benign |
Het |
| Gpr180 |
T |
G |
14: 118,400,035 (GRCm39) |
V401G |
possibly damaging |
Het |
| Heatr5b |
G |
T |
17: 79,110,936 (GRCm39) |
R971S |
possibly damaging |
Het |
| Igkv8-34 |
C |
A |
6: 70,021,103 (GRCm39) |
A120S |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,645,370 (GRCm39) |
H219Q |
probably benign |
Het |
| Itprid1 |
G |
T |
6: 55,955,404 (GRCm39) |
G1004V |
probably benign |
Het |
| Kremen2 |
T |
C |
17: 23,962,526 (GRCm39) |
|
probably null |
Het |
| Mael |
G |
A |
1: 166,029,167 (GRCm39) |
P419S |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,121,266 (GRCm39) |
T102A |
probably damaging |
Het |
| Mfsd2a |
A |
T |
4: 122,845,916 (GRCm39) |
I119N |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,685 (GRCm39) |
V1877A |
unknown |
Het |
| Myo5c |
A |
C |
9: 75,211,332 (GRCm39) |
S1733R |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,265,176 (GRCm39) |
V248A |
probably benign |
Het |
| Npc1 |
A |
T |
18: 12,334,763 (GRCm39) |
I663N |
probably damaging |
Het |
| Olig3 |
T |
A |
10: 19,232,413 (GRCm39) |
S13T |
unknown |
Het |
| Or1j17 |
G |
T |
2: 36,578,046 (GRCm39) |
E11* |
probably null |
Het |
| Or8k39 |
T |
C |
2: 86,563,129 (GRCm39) |
I276V |
probably benign |
Het |
| Piezo2 |
A |
C |
18: 63,150,590 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
T |
8: 117,781,610 (GRCm39) |
L812M |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,759 (GRCm39) |
T387I |
probably damaging |
Het |
| Ppara |
C |
T |
15: 85,671,429 (GRCm39) |
S110L |
probably damaging |
Het |
| Ranbp9 |
C |
T |
13: 43,578,590 (GRCm39) |
R161Q |
probably damaging |
Het |
| Rufy2 |
G |
T |
10: 62,833,748 (GRCm39) |
R270L |
probably benign |
Het |
| Septin12 |
C |
T |
16: 4,806,346 (GRCm39) |
E272K |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,137,182 (GRCm39) |
E128G |
possibly damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,007,093 (GRCm39) |
S21N |
probably benign |
Het |
| Sil1 |
A |
T |
18: 35,458,466 (GRCm39) |
D176E |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,295,621 (GRCm39) |
Y82N |
probably damaging |
Het |
| Slc41a1 |
C |
T |
1: 131,774,370 (GRCm39) |
P479L |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,570,229 (GRCm39) |
K744R |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,688,180 (GRCm39) |
D495G |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,695,494 (GRCm39) |
S156P |
probably benign |
Het |
| Syt3 |
A |
T |
7: 44,042,170 (GRCm39) |
D343V |
probably damaging |
Het |
| Tbl3 |
G |
T |
17: 24,924,265 (GRCm39) |
T164N |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,977,326 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
T |
A |
19: 55,915,172 (GRCm39) |
W461R |
unknown |
Het |
| Tmprss11c |
A |
T |
5: 86,379,723 (GRCm39) |
F395Y |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,932,280 (GRCm39) |
Y711* |
probably null |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,612,374 (GRCm39) |
K1216E |
probably damaging |
Het |
| Ube2q2 |
A |
C |
9: 55,070,298 (GRCm39) |
D80A |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,389,379 (GRCm39) |
K227* |
probably null |
Het |
| Uhrf2 |
T |
C |
19: 30,048,788 (GRCm39) |
Y265H |
possibly damaging |
Het |
| Vmn1r208 |
T |
G |
13: 22,956,756 (GRCm39) |
Y247S |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,174,276 (GRCm39) |
C525R |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,596,849 (GRCm39) |
T3090A |
probably damaging |
Het |
| Whrn |
T |
C |
4: 63,336,573 (GRCm39) |
K674R |
probably benign |
Het |
| Zfp202 |
G |
T |
9: 40,122,801 (GRCm39) |
R521I |
probably damaging |
Het |
| Zfp433 |
T |
C |
10: 81,556,659 (GRCm39) |
V387A |
probably benign |
Het |
| Zpld1 |
T |
C |
16: 55,067,046 (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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- GAGTTAGATGCCTGCTTTGC -3'
(R):5'- TGCAGGTCTAATCTTGTCCTTG -3'
Sequencing Primer
(F):5'- CATATATGTGATGGAGCTGTCACC -3'
(R):5'- GGCTTCCTGAACATCTGAACTGAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation