Incidental Mutation 'R0139:Cacna2d4'
| ID |
22174 |
| 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 |
038424-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0139 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
(trace)
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 119255230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037434
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190015
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
97% (89/92) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
C |
T |
8: 12,329,899 (GRCm39) |
S118L |
unknown |
Het |
| Adprs |
A |
G |
4: 126,211,947 (GRCm39) |
Y122H |
probably damaging |
Het |
| Ankrd52 |
T |
C |
10: 128,222,007 (GRCm39) |
S544P |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,338,298 (GRCm39) |
N558S |
probably benign |
Het |
| Arhgef7 |
A |
G |
8: 11,850,503 (GRCm39) |
E111G |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,896,054 (GRCm39) |
M755V |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,629,778 (GRCm39) |
I97T |
probably damaging |
Het |
| Bmp3 |
G |
A |
5: 99,027,768 (GRCm39) |
D463N |
possibly damaging |
Het |
| Ccdc28a |
G |
A |
10: 18,106,188 (GRCm39) |
S46F |
possibly damaging |
Het |
| Ccdc40 |
G |
A |
11: 119,155,125 (GRCm39) |
G1122S |
probably benign |
Het |
| Cenpw |
T |
G |
10: 30,076,455 (GRCm39) |
T8P |
probably benign |
Het |
| Cfap44 |
G |
C |
16: 44,253,785 (GRCm39) |
G893R |
possibly damaging |
Het |
| Cimap3 |
A |
T |
3: 105,906,886 (GRCm39) |
M171K |
possibly damaging |
Het |
| Cops7a |
A |
T |
6: 124,938,323 (GRCm39) |
C110S |
probably damaging |
Het |
| Cstl1 |
A |
G |
2: 148,597,245 (GRCm39) |
N134S |
probably damaging |
Het |
| Cyp2s1 |
G |
T |
7: 25,511,114 (GRCm39) |
|
probably null |
Het |
| Dio2 |
T |
A |
12: 90,696,617 (GRCm39) |
N124Y |
probably damaging |
Het |
| Ecel1 |
C |
A |
1: 87,082,248 (GRCm39) |
G155V |
possibly damaging |
Het |
| Efr3a |
G |
T |
15: 65,717,830 (GRCm39) |
V337F |
possibly damaging |
Het |
| Eva1b |
A |
C |
4: 126,043,446 (GRCm39) |
H162P |
probably damaging |
Het |
| Exoc5 |
C |
T |
14: 49,273,493 (GRCm39) |
E301K |
probably damaging |
Het |
| F13b |
G |
A |
1: 139,435,941 (GRCm39) |
S249N |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,646,446 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,250,231 (GRCm39) |
L396S |
probably damaging |
Het |
| Gck |
T |
A |
11: 5,859,139 (GRCm39) |
K143* |
probably null |
Het |
| Gck |
C |
A |
11: 5,860,370 (GRCm39) |
V91L |
probably damaging |
Het |
| Glt8d2 |
T |
C |
10: 82,496,644 (GRCm39) |
N138S |
probably damaging |
Het |
| Gm4884 |
T |
C |
7: 40,692,387 (GRCm39) |
F119L |
probably benign |
Het |
| Igsf11 |
T |
C |
16: 38,829,240 (GRCm39) |
S45P |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,289,695 (GRCm39) |
T176A |
probably damaging |
Het |
| Il10 |
G |
A |
1: 130,950,271 (GRCm39) |
V142M |
probably damaging |
Het |
| Insc |
A |
T |
7: 114,368,237 (GRCm39) |
H9L |
probably damaging |
Het |
| Iqsec1 |
G |
T |
6: 90,786,740 (GRCm39) |
|
probably benign |
Het |
| Katnb1 |
A |
G |
8: 95,825,050 (GRCm39) |
S611G |
possibly damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,947,459 (GRCm39) |
I463T |
possibly damaging |
Het |
| Lao1 |
A |
G |
4: 118,821,399 (GRCm39) |
N90S |
probably benign |
Het |
| Med16 |
T |
A |
10: 79,732,635 (GRCm39) |
M710L |
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
| Mtus1 |
G |
A |
8: 41,469,233 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,950,682 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
C |
T |
2: 25,138,366 (GRCm39) |
V405M |
possibly damaging |
Het |
| Nell2 |
A |
G |
15: 95,330,782 (GRCm39) |
V213A |
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,862,018 (GRCm39) |
I204V |
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,656,082 (GRCm39) |
N466K |
probably benign |
Het |
| Nxt1 |
A |
G |
2: 148,517,390 (GRCm39) |
T44A |
probably benign |
Het |
| Or14c46 |
T |
C |
7: 85,918,187 (GRCm39) |
E270G |
probably benign |
Het |
| Or2ag15 |
A |
T |
7: 106,340,832 (GRCm39) |
I103N |
probably benign |
Het |
| Or2y12 |
C |
T |
11: 49,426,401 (GRCm39) |
L130F |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,700,669 (GRCm39) |
T239A |
probably damaging |
Het |
| Or4f7 |
A |
T |
2: 111,644,699 (GRCm39) |
I124K |
possibly damaging |
Het |
| Or7e168 |
C |
T |
9: 19,720,165 (GRCm39) |
L184F |
probably damaging |
Het |
| Pced1a |
T |
C |
2: 130,263,827 (GRCm39) |
K275R |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,099,398 (GRCm39) |
|
probably null |
Het |
| Phldb2 |
A |
C |
16: 45,591,029 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
C |
A |
5: 128,824,387 (GRCm39) |
S490Y |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,054,501 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
A |
T |
18: 61,449,034 (GRCm39) |
|
probably benign |
Het |
| Psg19 |
C |
T |
7: 18,530,942 (GRCm39) |
V71I |
possibly damaging |
Het |
| Ptk6 |
T |
C |
2: 180,838,724 (GRCm39) |
|
probably benign |
Het |
| Pus7 |
A |
G |
5: 23,983,090 (GRCm39) |
S126P |
probably damaging |
Het |
| Rab6b |
T |
A |
9: 103,017,576 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
G |
A |
17: 57,016,272 (GRCm39) |
R347Q |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,570,214 (GRCm39) |
|
probably benign |
Het |
| Sbf1 |
A |
T |
15: 89,186,701 (GRCm39) |
L866Q |
probably damaging |
Het |
| Slc25a34 |
A |
G |
4: 141,349,663 (GRCm39) |
V164A |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,751,898 (GRCm39) |
|
probably null |
Het |
| Spin1 |
G |
T |
13: 51,303,048 (GRCm39) |
V214L |
probably benign |
Het |
| Spmip2 |
A |
T |
3: 79,313,142 (GRCm39) |
Y72F |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,092,289 (GRCm39) |
N492S |
probably benign |
Het |
| Stk-ps2 |
A |
G |
1: 46,068,955 (GRCm39) |
|
noncoding transcript |
Het |
| Taar7f |
T |
C |
10: 23,926,312 (GRCm39) |
I302T |
probably benign |
Het |
| Tdrd1 |
C |
A |
19: 56,831,630 (GRCm39) |
H340Q |
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,044,762 (GRCm39) |
D498G |
probably benign |
Het |
| Tpgs2 |
A |
G |
18: 25,282,242 (GRCm39) |
L103P |
probably damaging |
Het |
| Trip10 |
A |
G |
17: 57,568,633 (GRCm39) |
|
probably null |
Het |
| Trip6 |
A |
T |
5: 137,310,436 (GRCm39) |
H269Q |
probably benign |
Het |
| Trmt12 |
T |
C |
15: 58,744,743 (GRCm39) |
V47A |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,654,691 (GRCm39) |
S1416T |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,603,883 (GRCm39) |
A438T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,727,630 (GRCm39) |
|
probably benign |
Het |
| Twf2 |
G |
A |
9: 106,090,155 (GRCm39) |
V136M |
possibly damaging |
Het |
| Uty |
A |
C |
Y: 1,197,223 (GRCm39) |
Y115D |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,839,380 (GRCm39) |
S2055P |
probably damaging |
Het |
| Yes1 |
A |
G |
5: 32,842,039 (GRCm39) |
Q521R |
possibly damaging |
Het |
| Zfp114 |
A |
T |
7: 23,880,685 (GRCm39) |
T344S |
possibly damaging |
Het |
| Zfp661 |
A |
T |
2: 127,420,532 (GRCm39) |
V89D |
possibly damaging |
Het |
| Zfp91 |
A |
T |
19: 12,747,834 (GRCm39) |
Y430N |
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 |
|
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 |
|
|
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'- ACCCCGATATAAGGTGAGCCTGAG -3'
(R):5'- AGTAATGGAAACTGGGCTGTTCTGC -3'
Sequencing Primer
(F):5'- acagtttcagtttcttggcttc -3'
(R):5'- TGCAGGACACCATTCTCAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation