Incidental Mutation 'R0833:Cacna2d4'
ID |
77633 |
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 |
039012-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0833 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 119284247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 745
(R745W)
|
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: R770W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044660 Gene: ENSMUSG00000041460 AA Change: R770W
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: R745W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140197 Gene: ENSMUSG00000041460 AA Change: R745W
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 |
|
Meta Mutation Damage Score |
0.6242 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
Validation Efficiency |
100% (97/97) |
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,000,931 (GRCm39) |
L41P |
probably damaging |
Het |
3110082I17Rik |
A |
G |
5: 139,349,875 (GRCm39) |
V58A |
possibly damaging |
Het |
4932415M13Rik |
A |
T |
17: 54,031,374 (GRCm39) |
|
noncoding transcript |
Het |
Aldh1a7 |
C |
T |
19: 20,679,607 (GRCm39) |
V390M |
probably damaging |
Het |
Alg14 |
A |
G |
3: 121,092,259 (GRCm39) |
H34R |
probably damaging |
Het |
Ankrd27 |
A |
G |
7: 35,307,772 (GRCm39) |
N337S |
probably damaging |
Het |
Apoa2 |
T |
A |
1: 171,052,948 (GRCm39) |
|
probably benign |
Het |
Arl2 |
T |
G |
19: 6,186,052 (GRCm39) |
K126T |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,721,762 (GRCm39) |
W2072R |
probably benign |
Het |
Astl |
T |
C |
2: 127,184,339 (GRCm39) |
F21L |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,649,097 (GRCm39) |
D362G |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,172,333 (GRCm39) |
H2094Q |
probably benign |
Het |
Ccdc85a |
T |
A |
11: 28,533,296 (GRCm39) |
I83F |
probably damaging |
Het |
Ccnt2 |
T |
A |
1: 127,730,131 (GRCm39) |
M336K |
probably benign |
Het |
Cd226 |
A |
C |
18: 89,225,144 (GRCm39) |
|
probably benign |
Het |
Ceacam23 |
C |
A |
7: 17,638,906 (GRCm39) |
A301E |
possibly damaging |
Het |
Ces1f |
A |
T |
8: 93,996,652 (GRCm39) |
S214T |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,768,784 (GRCm39) |
D605G |
probably benign |
Het |
Col26a1 |
A |
G |
5: 136,794,154 (GRCm39) |
|
probably null |
Het |
Crtc1 |
A |
G |
8: 70,845,663 (GRCm39) |
V306A |
probably benign |
Het |
D130043K22Rik |
G |
A |
13: 25,047,563 (GRCm39) |
|
probably benign |
Het |
D17H6S53E |
A |
T |
17: 35,346,385 (GRCm39) |
|
probably null |
Het |
Dnah11 |
G |
A |
12: 118,160,397 (GRCm39) |
A111V |
probably benign |
Het |
Dyrk2 |
T |
C |
10: 118,697,027 (GRCm39) |
H77R |
probably benign |
Het |
Epha3 |
A |
G |
16: 63,423,882 (GRCm39) |
|
probably benign |
Het |
Epn2 |
T |
C |
11: 61,410,317 (GRCm39) |
N611S |
probably benign |
Het |
Erich6 |
A |
C |
3: 58,526,365 (GRCm39) |
|
probably benign |
Het |
Fam217b |
T |
C |
2: 178,062,782 (GRCm39) |
S249P |
probably benign |
Het |
Fam219b |
A |
G |
9: 57,445,299 (GRCm39) |
|
probably benign |
Het |
Fryl |
A |
T |
5: 73,246,424 (GRCm39) |
|
probably benign |
Het |
Ftdc2 |
G |
A |
16: 58,455,886 (GRCm39) |
S129L |
probably damaging |
Het |
Gm14496 |
T |
C |
2: 181,638,059 (GRCm39) |
W378R |
probably damaging |
Het |
Gm57858 |
A |
G |
3: 36,074,362 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
A |
T |
13: 50,058,611 (GRCm39) |
|
noncoding transcript |
Het |
Grap |
T |
A |
11: 61,551,065 (GRCm39) |
D32E |
possibly damaging |
Het |
Grk2 |
C |
A |
19: 4,339,385 (GRCm39) |
L428F |
probably damaging |
Het |
Grm8 |
T |
A |
6: 27,363,178 (GRCm39) |
E779V |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,661,612 (GRCm39) |
S670P |
probably damaging |
Het |
Ilrun |
A |
T |
17: 28,005,112 (GRCm39) |
S148R |
probably damaging |
Het |
Itgae |
A |
T |
11: 73,020,032 (GRCm39) |
M845L |
probably benign |
Het |
Itih1 |
A |
T |
14: 30,663,512 (GRCm39) |
V164E |
probably damaging |
Het |
Itpka |
T |
A |
2: 119,581,312 (GRCm39) |
N448K |
probably damaging |
Het |
Jak3 |
A |
C |
8: 72,136,622 (GRCm39) |
N643T |
probably damaging |
Het |
Lrfn5 |
A |
C |
12: 61,886,454 (GRCm39) |
T81P |
probably damaging |
Het |
Lrrc45 |
T |
A |
11: 120,609,019 (GRCm39) |
|
probably null |
Het |
Marchf6 |
T |
C |
15: 31,480,437 (GRCm39) |
Y562C |
probably benign |
Het |
Mcrs1 |
T |
C |
15: 99,141,330 (GRCm39) |
|
probably benign |
Het |
Meis1 |
G |
A |
11: 18,831,767 (GRCm39) |
H424Y |
possibly damaging |
Het |
Mst1r |
A |
G |
9: 107,791,975 (GRCm39) |
N837S |
probably benign |
Het |
Mst1r |
G |
A |
9: 107,790,366 (GRCm39) |
V660I |
probably benign |
Het |
Mthfd2l |
T |
C |
5: 91,094,801 (GRCm39) |
V90A |
probably damaging |
Het |
Mtnr1a |
A |
T |
8: 45,540,974 (GRCm39) |
I312F |
probably benign |
Het |
Or10g3b |
T |
C |
14: 52,586,835 (GRCm39) |
I223V |
probably benign |
Het |
Or51g1 |
C |
A |
7: 102,634,043 (GRCm39) |
L109F |
possibly damaging |
Het |
Or8b12b |
T |
C |
9: 37,684,372 (GRCm39) |
V139A |
probably benign |
Het |
Otog |
C |
T |
7: 45,918,786 (GRCm39) |
T954I |
possibly damaging |
Het |
Pdcd6 |
A |
G |
13: 74,464,443 (GRCm39) |
|
probably benign |
Het |
Phlpp2 |
A |
G |
8: 110,663,738 (GRCm39) |
T926A |
probably damaging |
Het |
Plec |
GGCAGCAG |
GGCAGCAGCAG |
15: 76,066,107 (GRCm39) |
|
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,535,360 (GRCm39) |
|
probably benign |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Pramel18 |
G |
A |
4: 101,767,294 (GRCm39) |
C181Y |
probably damaging |
Het |
Pramel23 |
A |
T |
4: 143,425,056 (GRCm39) |
M129K |
probably benign |
Het |
Rab27b |
T |
C |
18: 70,120,112 (GRCm39) |
|
probably benign |
Het |
Rapsn |
T |
C |
2: 90,867,153 (GRCm39) |
Y152H |
probably damaging |
Het |
Rasd1 |
A |
T |
11: 59,855,379 (GRCm39) |
F85I |
probably damaging |
Het |
Rgs1 |
A |
T |
1: 144,123,671 (GRCm39) |
S85T |
probably damaging |
Het |
Samd9l |
T |
C |
6: 3,372,725 (GRCm39) |
E1512G |
possibly damaging |
Het |
Sgsm1 |
C |
T |
5: 113,427,050 (GRCm39) |
A127T |
probably benign |
Het |
Shc1 |
A |
G |
3: 89,330,276 (GRCm39) |
D70G |
probably damaging |
Het |
Slc26a1 |
T |
A |
5: 108,821,389 (GRCm39) |
T167S |
probably benign |
Het |
Slc26a7 |
A |
T |
4: 14,593,873 (GRCm39) |
Y81N |
probably damaging |
Het |
Slc2a12 |
T |
C |
10: 22,577,915 (GRCm39) |
|
probably benign |
Het |
Slc30a7 |
T |
A |
3: 115,783,789 (GRCm39) |
|
probably null |
Het |
Slc44a5 |
T |
C |
3: 153,971,111 (GRCm39) |
S654P |
probably damaging |
Het |
Stard9 |
T |
G |
2: 120,527,480 (GRCm39) |
S1246A |
possibly damaging |
Het |
Stxbp5 |
A |
T |
10: 9,740,843 (GRCm39) |
S116R |
probably damaging |
Het |
Syvn1 |
C |
T |
19: 6,102,483 (GRCm39) |
P517L |
probably benign |
Het |
Tas2r105 |
T |
C |
6: 131,664,393 (GRCm39) |
I12V |
probably benign |
Het |
Tas2r121 |
A |
G |
6: 132,677,325 (GRCm39) |
S216P |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,978,904 (GRCm39) |
D48G |
probably damaging |
Het |
Tgm3 |
C |
T |
2: 129,868,602 (GRCm39) |
|
probably benign |
Het |
Tle2 |
T |
C |
10: 81,424,781 (GRCm39) |
F667L |
probably damaging |
Het |
Tnfaip3 |
C |
A |
10: 18,878,697 (GRCm39) |
A704S |
probably benign |
Het |
Trabd2b |
A |
G |
4: 114,437,519 (GRCm39) |
Q232R |
probably benign |
Het |
Ttc28 |
T |
A |
5: 111,378,947 (GRCm39) |
I1144N |
probably damaging |
Het |
Ucp3 |
T |
A |
7: 100,128,748 (GRCm39) |
C25* |
probably null |
Het |
Ugt3a1 |
A |
G |
15: 9,370,236 (GRCm39) |
D460G |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,592,336 (GRCm39) |
D308G |
possibly damaging |
Het |
Ush1g |
G |
T |
11: 115,209,694 (GRCm39) |
R167S |
possibly damaging |
Het |
Vav3 |
A |
G |
3: 109,554,995 (GRCm39) |
N81S |
possibly damaging |
Het |
Vmn2r108 |
A |
T |
17: 20,691,721 (GRCm39) |
D267E |
probably benign |
Het |
Zng1 |
A |
G |
19: 24,918,203 (GRCm39) |
|
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 |
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'- GTCCTCTAACCAACTGTGTTGACCC -3'
(R):5'- AGCTCCGTAGCTGAAGGCATTG -3'
Sequencing Primer
(F):5'- ACTGTGTTGACCCAAGCCTG -3'
(R):5'- CCCCGTGTCTATGTCAGTGG -3'
|
Posted On |
2013-10-16 |