Incidental Mutation 'R2280:Cacna2d4'
| ID |
243042 |
| 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 |
040279-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2280 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119327002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1089
(Q1089L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032272]
[ENSMUST00000037434]
[ENSMUST00000169744]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032272
|
| SMART Domains |
Protein: ENSMUSP00000032272
Gene: ENSMUSG00000030168
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
Blast:RING
|
81 |
138 |
3e-26 |
BLAST |
|
Pfam:HlyIII
|
140 |
363 |
6.9e-75 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037434
AA Change: Q1114L
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: Q1114L
| 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: ENSMUST00000169744
|
| SMART Domains |
Protein: ENSMUSP00000126138
Gene: ENSMUSG00000030168
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
Blast:RING
|
81 |
138 |
3e-26 |
BLAST |
|
Pfam:HlyIII
|
140 |
363 |
6.9e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185965
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186622
AA Change: Q1089L
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: Q1089L
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,654,955 (GRCm39) |
N2698S |
probably damaging |
Het |
| Ankrd37 |
T |
C |
8: 46,452,413 (GRCm39) |
T19A |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,802,164 (GRCm39) |
K353N |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,104 (GRCm39) |
E630D |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,664,724 (GRCm39) |
M888V |
unknown |
Het |
| Apoh |
T |
A |
11: 108,300,006 (GRCm39) |
Y218* |
probably null |
Het |
| Arhgef19 |
G |
A |
4: 140,973,827 (GRCm39) |
G105S |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,069,385 (GRCm39) |
S437P |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,095,620 (GRCm39) |
H1826L |
possibly damaging |
Het |
| Ccser1 |
A |
T |
6: 61,547,799 (GRCm39) |
M49L |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,602,071 (GRCm39) |
V345E |
probably benign |
Het |
| Chaf1b |
T |
G |
16: 93,688,459 (GRCm39) |
Y185D |
probably damaging |
Het |
| Clasp1 |
C |
T |
1: 118,492,913 (GRCm39) |
P1153S |
probably benign |
Het |
| Clvs2 |
A |
T |
10: 33,404,496 (GRCm39) |
I240N |
probably damaging |
Het |
| Cox8c |
A |
T |
12: 102,865,713 (GRCm39) |
H30L |
possibly damaging |
Het |
| Crtac1 |
G |
A |
19: 42,272,006 (GRCm39) |
L646F |
unknown |
Het |
| Cyp46a1 |
T |
C |
12: 108,321,730 (GRCm39) |
S319P |
probably damaging |
Het |
| Dcdc5 |
G |
A |
2: 106,202,867 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx4 |
T |
C |
13: 112,757,190 (GRCm39) |
I377V |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,225,076 (GRCm39) |
N407I |
possibly damaging |
Het |
| Dysf |
A |
C |
6: 84,041,476 (GRCm39) |
T161P |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,836 (GRCm39) |
V68I |
possibly damaging |
Het |
| Ei24 |
A |
G |
9: 36,693,635 (GRCm39) |
|
probably null |
Het |
| Fbxl19 |
A |
T |
7: 127,347,540 (GRCm39) |
D32V |
possibly damaging |
Het |
| Fgd5 |
G |
A |
6: 91,965,926 (GRCm39) |
V562M |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Frem2 |
A |
G |
3: 53,479,844 (GRCm39) |
C1950R |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,198,707 (GRCm39) |
D2640G |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,832 (GRCm39) |
V306A |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,858,359 (GRCm39) |
V40D |
probably damaging |
Het |
| Gcc2 |
C |
A |
10: 58,105,502 (GRCm39) |
T210K |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,750,789 (GRCm39) |
M1991K |
probably damaging |
Het |
| Gpr18 |
T |
A |
14: 122,150,017 (GRCm39) |
T3S |
probably benign |
Het |
| Herc2 |
A |
C |
7: 55,787,019 (GRCm39) |
K1621N |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,249,354 (GRCm39) |
E1300G |
probably damaging |
Het |
| Krtap19-5 |
C |
T |
16: 88,693,231 (GRCm39) |
C27Y |
unknown |
Het |
| Lrrc3b |
A |
T |
14: 15,358,076 (GRCm38) |
L177M |
probably damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,327,266 (GRCm39) |
I118T |
probably benign |
Het |
| Ncoa4-ps |
A |
G |
12: 119,226,573 (GRCm39) |
|
noncoding transcript |
Het |
| Nphp4 |
A |
G |
4: 152,641,500 (GRCm39) |
K1094E |
possibly damaging |
Het |
| Npy1r |
C |
T |
8: 67,156,711 (GRCm39) |
L44F |
possibly damaging |
Het |
| Or10aa1 |
C |
A |
1: 173,870,087 (GRCm39) |
S190R |
probably benign |
Het |
| Pcx |
C |
A |
19: 4,654,571 (GRCm39) |
R328S |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,395,505 (GRCm39) |
Y583H |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,356,311 (GRCm39) |
Y209F |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,068,766 (GRCm39) |
S1182T |
probably damaging |
Het |
| Pum1 |
A |
T |
4: 130,493,322 (GRCm39) |
I696F |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,034,905 (GRCm39) |
V254A |
probably damaging |
Het |
| Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
| Rsph4a |
A |
T |
10: 33,787,595 (GRCm39) |
I584L |
probably benign |
Het |
| Scamp5 |
A |
G |
9: 57,352,722 (GRCm39) |
V149A |
probably benign |
Het |
| Sike1 |
A |
G |
3: 102,904,694 (GRCm39) |
H134R |
possibly damaging |
Het |
| Slc12a9 |
A |
G |
5: 137,330,474 (GRCm39) |
L77P |
probably damaging |
Het |
| Spmap2l |
T |
C |
5: 77,207,214 (GRCm39) |
I324T |
probably damaging |
Het |
| Taar7f |
G |
A |
10: 23,925,417 (GRCm39) |
A4T |
probably benign |
Het |
| Tmem216 |
T |
A |
19: 10,529,237 (GRCm39) |
T104S |
probably damaging |
Het |
| Tpsg1 |
C |
T |
17: 25,593,016 (GRCm39) |
R94C |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,661,365 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,028,628 (GRCm39) |
Q82R |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,231,248 (GRCm39) |
Y525C |
probably damaging |
Het |
| Zfp532 |
T |
C |
18: 65,757,783 (GRCm39) |
V572A |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,321,814 (GRCm39) |
Q935L |
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 |
|
|
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 |
PCR Primer
(F):5'- GCAGGTTTCTTCTCATCTTTGAAAC -3'
(R):5'- CAGTGAGGGGCCTTCATAAG -3'
Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- GCCTTCATAAGCCGGTAACTTTGTAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation