Incidental Mutation 'R9335:Cacna2d4'
| ID |
707067 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119279014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 709
(L709Q)
|
| 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: L734Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: L734Q
| 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: L709Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: L709Q
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
T |
16: 90,852,830 (GRCm39) |
T102K |
probably damaging |
Het |
| Afm |
A |
T |
5: 90,698,086 (GRCm39) |
D496V |
probably damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,510 (GRCm39) |
M546I |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,409,889 (GRCm39) |
N352K |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,228,236 (GRCm39) |
D1319E |
probably damaging |
Het |
| Atl2 |
A |
G |
17: 80,160,207 (GRCm39) |
I460T |
probably benign |
Het |
| Brms1l |
C |
A |
12: 55,888,431 (GRCm39) |
T73K |
possibly damaging |
Het |
| C1rl |
A |
T |
6: 124,482,341 (GRCm39) |
H154L |
probably benign |
Het |
| Cd101 |
A |
T |
3: 100,915,431 (GRCm39) |
V716D |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,443,711 (GRCm39) |
S796P |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,078,674 (GRCm39) |
M530K |
probably damaging |
Het |
| Dcbld2 |
A |
T |
16: 58,272,141 (GRCm39) |
Q399L |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,175,611 (GRCm39) |
Y138H |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,992,187 (GRCm39) |
N311S |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,625,489 (GRCm39) |
I107V |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,112,149 (GRCm39) |
V2480G |
possibly damaging |
Het |
| Ect2l |
T |
A |
10: 18,077,032 (GRCm39) |
T24S |
probably null |
Het |
| Egfr |
C |
A |
11: 16,820,991 (GRCm39) |
T302K |
probably damaging |
Het |
| Eid1 |
T |
G |
2: 125,515,578 (GRCm39) |
I156S |
possibly damaging |
Het |
| Elmod1 |
A |
T |
9: 53,843,116 (GRCm39) |
W21R |
probably benign |
Het |
| Enah |
G |
A |
1: 181,749,450 (GRCm39) |
P463L |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,966,529 (GRCm39) |
Y602C |
probably benign |
Het |
| Ermap |
T |
A |
4: 119,035,545 (GRCm39) |
Y481F |
probably damaging |
Het |
| Fam114a2 |
G |
T |
11: 57,397,748 (GRCm39) |
T231N |
possibly damaging |
Het |
| Gdap1 |
A |
G |
1: 17,231,389 (GRCm39) |
T245A |
probably benign |
Het |
| Glmp |
T |
A |
3: 88,235,563 (GRCm39) |
V368D |
probably damaging |
Het |
| Gm10203 |
C |
T |
6: 149,031,815 (GRCm39) |
A40V |
unknown |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hao2 |
C |
A |
3: 98,791,010 (GRCm39) |
V55L |
possibly damaging |
Het |
| Hemgn |
A |
T |
4: 46,394,647 (GRCm39) |
S488T |
probably benign |
Het |
| Ighv12-3 |
C |
T |
12: 114,330,312 (GRCm39) |
G61E |
probably damaging |
Het |
| Itga2b |
T |
C |
11: 102,346,478 (GRCm39) |
E986G |
probably damaging |
Het |
| Laptm5 |
T |
G |
4: 130,656,839 (GRCm39) |
S167A |
|
Het |
| Lmtk3 |
A |
T |
7: 45,442,165 (GRCm39) |
Y377F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,258,983 (GRCm39) |
I4569T |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,866,263 (GRCm39) |
N176D |
|
Het |
| Mcf2l |
C |
A |
8: 13,050,812 (GRCm39) |
H356N |
possibly damaging |
Het |
| Mettl4 |
T |
A |
17: 95,042,936 (GRCm39) |
Y300F |
probably damaging |
Het |
| Naaladl2 |
T |
G |
3: 24,467,532 (GRCm39) |
K307N |
possibly damaging |
Het |
| Or1a1b |
T |
A |
11: 74,097,832 (GRCm39) |
D70V |
probably damaging |
Het |
| Or2aj4 |
G |
A |
16: 19,385,513 (GRCm39) |
T40I |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or6c8b |
C |
T |
10: 128,882,614 (GRCm39) |
G106E |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,814,979 (GRCm39) |
M248L |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,825,491 (GRCm39) |
T300A |
probably benign |
Het |
| Ppa1 |
T |
G |
10: 61,484,562 (GRCm39) |
V19G |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,007,013 (GRCm39) |
Y793C |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,325,357 (GRCm39) |
I177F |
probably benign |
Het |
| Prodh |
C |
A |
16: 17,894,160 (GRCm39) |
G457V |
probably damaging |
Het |
| Prrt3 |
T |
C |
6: 113,475,058 (GRCm39) |
K55E |
probably benign |
Het |
| Prx |
G |
T |
7: 27,217,496 (GRCm39) |
V805L |
probably damaging |
Het |
| Ptk6 |
T |
G |
2: 180,844,146 (GRCm39) |
D51A |
probably damaging |
Het |
| Rec114 |
T |
A |
9: 58,565,041 (GRCm39) |
Q205L |
probably null |
Het |
| Rfwd3 |
T |
G |
8: 112,006,567 (GRCm39) |
K510Q |
possibly damaging |
Het |
| Sdhb |
C |
T |
4: 140,700,250 (GRCm39) |
R117C |
probably benign |
Het |
| Serinc2 |
T |
G |
4: 130,158,220 (GRCm39) |
T21P |
probably benign |
Het |
| Serpinb3a |
A |
C |
1: 106,974,886 (GRCm39) |
F216V |
probably damaging |
Het |
| Sertm1 |
T |
C |
3: 54,806,929 (GRCm39) |
D32G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,035,963 (GRCm39) |
D816G |
probably benign |
Het |
| Sfxn4 |
T |
A |
19: 60,839,494 (GRCm39) |
N188I |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,575,553 (GRCm39) |
D711G |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,621 (GRCm39) |
F392L |
probably damaging |
Het |
| Ssbp1 |
T |
C |
6: 40,454,955 (GRCm39) |
L138P |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,092,588 (GRCm39) |
G96E |
probably damaging |
Het |
| Tbc1d9 |
G |
T |
8: 83,937,160 (GRCm39) |
G81C |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,040,640 (GRCm39) |
Q968* |
probably null |
Het |
| Tnni2 |
T |
C |
7: 141,998,003 (GRCm39) |
S169P |
probably damaging |
Het |
| Tpk1 |
T |
C |
6: 43,446,084 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
A |
4: 43,216,123 (GRCm39) |
Y141N |
possibly damaging |
Het |
| Unc13b |
A |
T |
4: 43,255,551 (GRCm39) |
E1057D |
probably damaging |
Het |
| Usf3 |
G |
T |
16: 44,041,936 (GRCm39) |
G2139C |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,430 (GRCm39) |
Y148* |
probably null |
Het |
| Vmn2r42 |
A |
C |
7: 8,197,758 (GRCm39) |
M287R |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,332 (GRCm39) |
H565L |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,476 (GRCm39) |
M83K |
probably benign |
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 |
|
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 |
|
|
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'- CCTGATCTGCTATAGGGTAGAGG -3'
(R):5'- CGAGGGTGTGTCTTTCCAAG -3'
Sequencing Primer
(F):5'- GAACTTCTGAGCCTGTACTTGCAAG -3'
(R):5'- GTGTCTTTCCAAGGGTCCTGAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation