Incidental Mutation 'R4899:Cacna2d4'
| ID |
472511 |
| 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 |
042503-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4899 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119236526-119352407 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 119268196 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 288
(W288*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037434
AA Change: W288*
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: W288*
| 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 |
noncoding transcript
Transcript: ENSMUST00000186176
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186622
AA Change: W288*
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: W288*
| 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: ENSMUST00000187222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191331
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010005H15Rik |
A |
T |
16: 36,257,365 (GRCm38) |
Y96F |
possibly damaging |
Het |
| 9230110C19Rik |
A |
T |
9: 8,022,493 (GRCm38) |
S243T |
possibly damaging |
Het |
| Abhd18 |
C |
G |
3: 40,905,869 (GRCm38) |
|
probably null |
Het |
| Adra2c |
A |
T |
5: 35,280,361 (GRCm38) |
Y159F |
probably damaging |
Het |
| AI481877 |
T |
C |
4: 59,062,640 (GRCm38) |
Y872C |
probably damaging |
Het |
| Alkal2 |
T |
A |
12: 30,884,973 (GRCm38) |
S64T |
probably benign |
Het |
| Apbb1ip |
T |
C |
2: 22,823,349 (GRCm38) |
V72A |
unknown |
Het |
| Atp13a5 |
A |
G |
16: 29,378,500 (GRCm38) |
L13P |
probably damaging |
Het |
| Azin2 |
G |
A |
4: 128,934,653 (GRCm38) |
P254S |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,840,683 (GRCm38) |
R481G |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,427,869 (GRCm38) |
T626A |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,606,284 (GRCm38) |
D683E |
probably damaging |
Het |
| Chat |
G |
T |
14: 32,448,977 (GRCm38) |
S188R |
possibly damaging |
Het |
| Cit |
A |
G |
5: 115,863,028 (GRCm38) |
Y162C |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,737,961 (GRCm38) |
Y676F |
probably damaging |
Het |
| Clec2h |
A |
G |
6: 128,675,824 (GRCm38) |
N185D |
probably benign |
Het |
| Cnbd2 |
G |
T |
2: 156,339,221 (GRCm38) |
V192F |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,802,427 (GRCm38) |
G1112V |
probably damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,977,671 (GRCm38) |
F483S |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,683,818 (GRCm38) |
E1103G |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,131,921 (GRCm38) |
Q1629* |
probably null |
Het |
| E330014E10Rik |
T |
C |
5: 95,801,727 (GRCm38) |
V111A |
probably benign |
Het |
| Enpp6 |
A |
G |
8: 46,987,083 (GRCm38) |
Y38C |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 77,985,057 (GRCm38) |
L1271Q |
probably damaging |
Het |
| Fam47e |
G |
A |
5: 92,574,669 (GRCm38) |
V75I |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,969,799 (GRCm38) |
D3259G |
probably damaging |
Het |
| Fbxw28 |
T |
C |
9: 109,330,853 (GRCm38) |
D211G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,446,843 (GRCm38) |
N990D |
probably benign |
Het |
| Frat1 |
T |
G |
19: 41,830,322 (GRCm38) |
L52R |
probably damaging |
Het |
| Ftmt |
C |
G |
18: 52,331,586 (GRCm38) |
|
probably benign |
Het |
| H2-M1 |
C |
T |
17: 36,671,220 (GRCm38) |
G163D |
probably benign |
Het |
| Hapln1 |
A |
G |
13: 89,601,650 (GRCm38) |
K105E |
possibly damaging |
Het |
| Igkv17-127 |
G |
T |
6: 67,861,397 (GRCm38) |
A31S |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,501,161 (GRCm38) |
L628P |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,832,613 (GRCm38) |
I213T |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,013,443 (GRCm38) |
|
probably null |
Het |
| Lama2 |
TTTGCGCATT |
TTT |
10: 27,043,643 (GRCm38) |
|
probably null |
Het |
| Llgl1 |
C |
T |
11: 60,709,568 (GRCm38) |
P581L |
probably benign |
Het |
| Marc2 |
A |
T |
1: 184,845,624 (GRCm38) |
I65N |
probably damaging |
Het |
| Mertk |
C |
A |
2: 128,783,925 (GRCm38) |
P660Q |
probably damaging |
Het |
| Mkl1 |
A |
G |
15: 81,018,386 (GRCm38) |
Y241H |
probably damaging |
Het |
| Napepld |
A |
G |
5: 21,683,440 (GRCm38) |
Y4H |
probably benign |
Het |
| Ncam1 |
T |
A |
9: 49,545,251 (GRCm38) |
|
probably null |
Het |
| Nuak2 |
A |
T |
1: 132,324,986 (GRCm38) |
K93* |
probably null |
Het |
| Oat |
A |
T |
7: 132,564,222 (GRCm38) |
D211E |
probably benign |
Het |
| Olfr1214 |
A |
C |
2: 88,988,110 (GRCm38) |
L31V |
probably null |
Het |
| Olfr1355 |
A |
T |
10: 78,879,207 (GRCm38) |
S12C |
probably benign |
Het |
| Olfr171 |
G |
A |
16: 19,624,200 (GRCm38) |
A300V |
probably benign |
Het |
| Olfr348 |
A |
G |
2: 36,786,798 (GRCm38) |
Q91R |
probably benign |
Het |
| Olfr64 |
A |
G |
7: 103,893,465 (GRCm38) |
I90T |
possibly damaging |
Het |
| Pde4dip |
C |
A |
3: 97,709,558 (GRCm38) |
K1789N |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,078,791 (GRCm38) |
I1322V |
possibly damaging |
Het |
| Pih1d1 |
A |
G |
7: 45,154,527 (GRCm38) |
|
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,722,327 (GRCm38) |
S454P |
probably damaging |
Het |
| Polr2h |
G |
A |
16: 20,720,553 (GRCm38) |
V89M |
probably damaging |
Het |
| Pptc7 |
G |
A |
5: 122,284,717 (GRCm38) |
G17S |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,544,436 (GRCm38) |
V602A |
probably damaging |
Het |
| Rnf123 |
C |
T |
9: 108,063,680 (GRCm38) |
R654H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Samsn1 |
A |
G |
16: 75,879,103 (GRCm38) |
S135P |
probably damaging |
Het |
| Sgsm3 |
A |
G |
15: 81,006,779 (GRCm38) |
N147S |
probably benign |
Het |
| Slc22a29 |
T |
C |
19: 8,161,569 (GRCm38) |
T510A |
probably benign |
Het |
| Smc4 |
T |
A |
3: 69,031,811 (GRCm38) |
H978Q |
probably damaging |
Het |
| Sox7 |
G |
A |
14: 63,948,478 (GRCm38) |
R321H |
probably damaging |
Het |
| Spred3 |
T |
C |
7: 29,161,833 (GRCm38) |
D307G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,854,101 (GRCm38) |
D11E |
probably benign |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,214,452 (GRCm38) |
|
probably benign |
Het |
| Top2b |
A |
T |
14: 16,387,313 (GRCm38) |
I134F |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,163,366 (GRCm38) |
R206* |
probably null |
Het |
| Ttc3 |
A |
T |
16: 94,429,455 (GRCm38) |
N837I |
probably damaging |
Het |
| Vmn1r36 |
T |
C |
6: 66,716,565 (GRCm38) |
T72A |
possibly damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,003,458 (GRCm38) |
S97P |
probably damaging |
Het |
| Zfp2 |
T |
A |
11: 50,900,014 (GRCm38) |
I401F |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,611,018 (GRCm38) |
T540A |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,166,145 (GRCm38) |
V834I |
probably benign |
Het |
|
| Other mutations in Cacna2d4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Cacna2d4
|
APN |
6 |
119,337,933 (GRCm38) |
splice site |
probably benign |
|
|
IGL00469:Cacna2d4
|
APN |
6 |
119,268,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00518:Cacna2d4
|
APN |
6 |
119,343,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00946:Cacna2d4
|
APN |
6 |
119,271,915 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01447:Cacna2d4
|
APN |
6 |
119,242,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01514:Cacna2d4
|
APN |
6 |
119,282,173 (GRCm38) |
splice site |
probably benign |
|
|
IGL01576:Cacna2d4
|
APN |
6 |
119,281,641 (GRCm38) |
nonsense |
probably null |
|
|
IGL01934:Cacna2d4
|
APN |
6 |
119,308,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02231:Cacna2d4
|
APN |
6 |
119,277,908 (GRCm38) |
splice site |
probably benign |
|
|
IGL02516:Cacna2d4
|
APN |
6 |
119,271,870 (GRCm38) |
splice site |
probably benign |
|
|
IGL02688:Cacna2d4
|
APN |
6 |
119,270,749 (GRCm38) |
splice site |
probably null |
|
|
IGL03110:Cacna2d4
|
APN |
6 |
119,236,737 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL03365:Cacna2d4
|
APN |
6 |
119,271,264 (GRCm38) |
missense |
probably benign |
0.15 |
|
saccharine
|
UTSW |
6 |
119,345,106 (GRCm38) |
splice site |
probably benign |
|
|
Steveo
|
UTSW |
6 |
119,347,252 (GRCm38) |
critical splice donor site |
probably null |
|
|
Sussmann
|
UTSW |
6 |
119,274,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0139:Cacna2d4
|
UTSW |
6 |
119,278,269 (GRCm38) |
intron |
probably benign |
|
|
R0157:Cacna2d4
|
UTSW |
6 |
119,312,424 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0158:Cacna2d4
|
UTSW |
6 |
119,236,748 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0245:Cacna2d4
|
UTSW |
6 |
119,308,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0612:Cacna2d4
|
UTSW |
6 |
119,281,718 (GRCm38) |
splice site |
probably benign |
|
|
R0659:Cacna2d4
|
UTSW |
6 |
119,345,106 (GRCm38) |
splice site |
probably benign |
|
|
R0722:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0743:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0833:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0835:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0836:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0884:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1052:Cacna2d4
|
UTSW |
6 |
119,300,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1168:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1170:Cacna2d4
|
UTSW |
6 |
119,307,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1451:Cacna2d4
|
UTSW |
6 |
119,236,824 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1564:Cacna2d4
|
UTSW |
6 |
119,241,195 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1809:Cacna2d4
|
UTSW |
6 |
119,270,824 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1936:Cacna2d4
|
UTSW |
6 |
119,270,761 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2078:Cacna2d4
|
UTSW |
6 |
119,338,116 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2198:Cacna2d4
|
UTSW |
6 |
119,347,259 (GRCm38) |
splice site |
probably benign |
|
|
R2280:Cacna2d4
|
UTSW |
6 |
119,350,041 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R3757:Cacna2d4
|
UTSW |
6 |
119,241,163 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3975:Cacna2d4
|
UTSW |
6 |
119,278,173 (GRCm38) |
splice site |
probably null |
|
|
R3976:Cacna2d4
|
UTSW |
6 |
119,278,173 (GRCm38) |
splice site |
probably null |
|
|
R4238:Cacna2d4
|
UTSW |
6 |
119,240,708 (GRCm38) |
missense |
probably null |
1.00 |
|
R4591:Cacna2d4
|
UTSW |
6 |
119,298,464 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4856:Cacna2d4
|
UTSW |
6 |
119,278,256 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5319:Cacna2d4
|
UTSW |
6 |
119,347,252 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5351:Cacna2d4
|
UTSW |
6 |
119,268,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5366:Cacna2d4
|
UTSW |
6 |
119,274,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5393:Cacna2d4
|
UTSW |
6 |
119,239,054 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5395:Cacna2d4
|
UTSW |
6 |
119,271,418 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5408:Cacna2d4
|
UTSW |
6 |
119,348,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5603:Cacna2d4
|
UTSW |
6 |
119,244,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5661:Cacna2d4
|
UTSW |
6 |
119,343,531 (GRCm38) |
missense |
probably benign |
|
|
R5898:Cacna2d4
|
UTSW |
6 |
119,274,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5928:Cacna2d4
|
UTSW |
6 |
119,281,698 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6186:Cacna2d4
|
UTSW |
6 |
119,281,689 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6218:Cacna2d4
|
UTSW |
6 |
119,239,060 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6257:Cacna2d4
|
UTSW |
6 |
119,281,619 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6409:Cacna2d4
|
UTSW |
6 |
119,282,228 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6931:Cacna2d4
|
UTSW |
6 |
119,282,234 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7221:Cacna2d4
|
UTSW |
6 |
119,236,663 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7363:Cacna2d4
|
UTSW |
6 |
119,343,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7371:Cacna2d4
|
UTSW |
6 |
119,308,709 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7382:Cacna2d4
|
UTSW |
6 |
119,239,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7431:Cacna2d4
|
UTSW |
6 |
119,244,276 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7517:Cacna2d4
|
UTSW |
6 |
119,271,921 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7527:Cacna2d4
|
UTSW |
6 |
119,271,247 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7529:Cacna2d4
|
UTSW |
6 |
119,270,766 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7710:Cacna2d4
|
UTSW |
6 |
119,274,239 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7880:Cacna2d4
|
UTSW |
6 |
119,349,155 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8007:Cacna2d4
|
UTSW |
6 |
119,312,444 (GRCm38) |
missense |
probably benign |
|
|
R8084:Cacna2d4
|
UTSW |
6 |
119,300,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8159:Cacna2d4
|
UTSW |
6 |
119,297,527 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8391:Cacna2d4
|
UTSW |
6 |
119,348,745 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8700:Cacna2d4
|
UTSW |
6 |
119,281,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8857:Cacna2d4
|
UTSW |
6 |
119,271,948 (GRCm38) |
nonsense |
probably null |
|
|
R8973:Cacna2d4
|
UTSW |
6 |
119,241,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8976:Cacna2d4
|
UTSW |
6 |
119,338,157 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R8998:Cacna2d4
|
UTSW |
6 |
119,242,915 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9129:Cacna2d4
|
UTSW |
6 |
119,336,454 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9199:Cacna2d4
|
UTSW |
6 |
119,267,826 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9228:Cacna2d4
|
UTSW |
6 |
119,271,515 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9310:Cacna2d4
|
UTSW |
6 |
119,271,953 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9315:Cacna2d4
|
UTSW |
6 |
119,236,709 (GRCm38) |
missense |
probably benign |
|
|
R9335:Cacna2d4
|
UTSW |
6 |
119,302,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9416:Cacna2d4
|
UTSW |
6 |
119,297,518 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9514:Cacna2d4
|
UTSW |
6 |
119,236,650 (GRCm38) |
missense |
probably benign |
|
|
R9600:Cacna2d4
|
UTSW |
6 |
119,345,062 (GRCm38) |
missense |
probably benign |
0.02 |
|
RF023:Cacna2d4
|
UTSW |
6 |
119,268,230 (GRCm38) |
missense |
probably benign |
0.19 |
|
Z1176:Cacna2d4
|
UTSW |
6 |
119,312,450 (GRCm38) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTACTTCCAATCTCAGC -3'
(R):5'- TGCAATCTGAGCACAACAATGG -3'
Sequencing Primer
(F):5'- TTACTTCCAATCTCAGCACCCCAG -3'
(R):5'- TATTTTCCCAGAGCAGGTGAGAGC -3'
|
| Posted On |
2017-04-14 |
Incidental Mutation