Incidental Mutation 'R5395:Cacna2d4'
| ID |
426116 |
| 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 |
042967-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5395 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119248379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 397
(S397P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037434
AA Change: S397P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: S397P
| 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 |
possibly damaging
Transcript: ENSMUST00000186622
AA Change: S397P
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: S397P
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,874,590 (GRCm39) |
I268V |
probably benign |
Het |
| Actn1 |
T |
A |
12: 80,217,477 (GRCm39) |
I782F |
probably benign |
Het |
| Adamdec1 |
A |
C |
14: 68,808,352 (GRCm39) |
S333A |
probably benign |
Het |
| Agbl5 |
C |
A |
5: 31,047,682 (GRCm39) |
T58N |
probably damaging |
Het |
| Apoo-ps |
T |
A |
13: 107,550,993 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef10l |
T |
C |
4: 140,297,601 (GRCm39) |
N277S |
probably benign |
Het |
| Ascc2 |
A |
G |
11: 4,609,273 (GRCm39) |
E241G |
possibly damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,239,706 (GRCm39) |
Y835* |
probably null |
Het |
| Atp13a4 |
A |
G |
16: 29,275,422 (GRCm39) |
V354A |
possibly damaging |
Het |
| Bcas3 |
T |
C |
11: 85,716,075 (GRCm39) |
S426P |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,861,175 (GRCm39) |
R48G |
probably damaging |
Het |
| Ccng2 |
T |
C |
5: 93,417,257 (GRCm39) |
M91T |
possibly damaging |
Het |
| Clk3 |
G |
A |
9: 57,660,622 (GRCm39) |
T473M |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,271,960 (GRCm39) |
H491Q |
probably benign |
Het |
| Cyp4f40 |
C |
T |
17: 32,888,827 (GRCm39) |
T202I |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,692,140 (GRCm39) |
F181I |
probably damaging |
Het |
| Fcrl6 |
G |
T |
1: 172,426,287 (GRCm39) |
A170D |
possibly damaging |
Het |
| Fev |
T |
C |
1: 74,921,823 (GRCm39) |
|
probably null |
Het |
| Flnb |
A |
G |
14: 7,883,881 (GRCm38) |
N369S |
probably benign |
Het |
| Flt3 |
A |
G |
5: 147,291,633 (GRCm39) |
F606L |
probably damaging |
Het |
| Gdf9 |
T |
C |
11: 53,324,624 (GRCm39) |
V131A |
probably benign |
Het |
| Gdnf |
T |
A |
15: 7,864,165 (GRCm39) |
L192Q |
probably damaging |
Het |
| Gjc2 |
A |
T |
11: 59,068,315 (GRCm39) |
C56S |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,889,535 (GRCm39) |
F550L |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,800,928 (GRCm39) |
E422G |
probably benign |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Gnb2 |
A |
G |
5: 137,526,788 (GRCm39) |
S334P |
probably damaging |
Het |
| Icam2 |
A |
T |
11: 106,273,299 (GRCm39) |
|
probably null |
Het |
| Inca1 |
C |
T |
11: 70,581,264 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
A |
C |
12: 119,134,476 (GRCm39) |
C530W |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,431,166 (GRCm39) |
D332G |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,195,455 (GRCm39) |
N234K |
probably benign |
Het |
| Mcm5 |
G |
A |
8: 75,849,654 (GRCm39) |
S542N |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,414,788 (GRCm39) |
N97K |
possibly damaging |
Het |
| Morc2a |
G |
A |
11: 3,638,232 (GRCm39) |
R986H |
possibly damaging |
Het |
| Neu2 |
T |
A |
1: 87,524,397 (GRCm39) |
|
probably null |
Het |
| Nfatc1 |
G |
A |
18: 80,679,235 (GRCm39) |
P718S |
possibly damaging |
Het |
| Nol6 |
G |
A |
4: 41,118,392 (GRCm39) |
|
probably benign |
Het |
| Or10j7 |
A |
T |
1: 173,011,247 (GRCm39) |
Y251* |
probably null |
Het |
| Otogl |
T |
C |
10: 107,652,999 (GRCm39) |
N1118D |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,021,119 (GRCm39) |
I111K |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,744,097 (GRCm39) |
D582G |
probably damaging |
Het |
| Piwil2 |
G |
T |
14: 70,632,846 (GRCm39) |
N575K |
probably benign |
Het |
| Pou4f2 |
T |
A |
8: 79,161,701 (GRCm39) |
I301F |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,438,215 (GRCm39) |
N409S |
probably damaging |
Het |
| Ptpn21 |
T |
G |
12: 98,681,376 (GRCm39) |
K86T |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,705,927 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
G |
15: 81,590,647 (GRCm39) |
F482L |
probably benign |
Het |
| Rapgef1 |
T |
A |
2: 29,627,977 (GRCm39) |
N1052K |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,584,367 (GRCm39) |
|
probably null |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,277 (GRCm39) |
S50G |
probably benign |
Het |
| Sin3a |
G |
A |
9: 57,012,957 (GRCm39) |
R612H |
probably damaging |
Het |
| Six6 |
T |
A |
12: 72,988,475 (GRCm39) |
L216* |
probably null |
Het |
| Slc20a1 |
A |
T |
2: 129,050,257 (GRCm39) |
N472Y |
probably damaging |
Het |
| Slc35d1 |
C |
T |
4: 103,068,572 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slc7a8 |
C |
A |
14: 54,970,734 (GRCm39) |
G306* |
probably null |
Het |
| Slc9a8 |
T |
A |
2: 167,309,642 (GRCm39) |
F335L |
probably damaging |
Het |
| Smyd1 |
T |
G |
6: 71,196,374 (GRCm39) |
K338T |
possibly damaging |
Het |
| Snd1 |
T |
A |
6: 28,526,183 (GRCm39) |
V187E |
probably damaging |
Het |
| Spag9 |
T |
G |
11: 93,982,577 (GRCm39) |
|
probably null |
Het |
| Tnfsf9 |
C |
A |
17: 57,412,592 (GRCm39) |
T54K |
probably benign |
Het |
| Trim24 |
T |
G |
6: 37,934,679 (GRCm39) |
V798G |
probably damaging |
Het |
| Tyr |
C |
A |
7: 87,121,698 (GRCm39) |
A365S |
probably damaging |
Het |
| Usp43 |
T |
A |
11: 67,788,184 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,385,874 (GRCm39) |
D702G |
probably damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,105 (GRCm39) |
S315P |
possibly damaging |
Het |
| Wdr64 |
T |
A |
1: 175,583,164 (GRCm39) |
F367I |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,656,702 (GRCm39) |
R173K |
possibly damaging |
Het |
| Zfp493 |
T |
A |
13: 67,931,965 (GRCm39) |
C21* |
probably null |
Het |
| Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
| Zpbp2 |
T |
A |
11: 98,449,039 (GRCm39) |
V275D |
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 |
|
|
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 |
|
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'- CAAGCAGTTGGTGGATGAGC -3'
(R):5'- GGGGTTGTACTACACACAAGACTAC -3'
Sequencing Primer
(F):5'- AGCTGATGGTCAAAGGTGTG -3'
(R):5'- CTACTATGATTTAGGGGAACGCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation