Incidental Mutation 'R1936:Cacna2d4'
ID |
215798 |
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 |
039954-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1936 (G1)
|
Quality Score |
159 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119247722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 341
(D341G)
|
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: D341G
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000044660 Gene: ENSMUSG00000041460 AA Change: D341G
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: D341G
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000140197 Gene: ENSMUSG00000041460 AA Change: D341G
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
|
Meta Mutation Damage Score |
0.3370 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.5%
|
Validation Efficiency |
99% (98/99) |
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: 95 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
G |
6: 91,894,061 (GRCm39) |
Q226R |
possibly damaging |
Het |
Abca13 |
G |
A |
11: 9,243,595 (GRCm39) |
M1819I |
probably benign |
Het |
Abca4 |
G |
A |
3: 121,846,572 (GRCm39) |
V30M |
probably benign |
Het |
Ablim1 |
T |
A |
19: 57,204,397 (GRCm39) |
|
probably null |
Het |
Adgrf3 |
A |
T |
5: 30,407,304 (GRCm39) |
N207K |
probably benign |
Het |
Anapc4 |
T |
A |
5: 52,997,010 (GRCm39) |
D94E |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,705,523 (GRCm39) |
N918S |
probably benign |
Het |
Arhgap45 |
A |
G |
10: 79,866,788 (GRCm39) |
N1097S |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
AU016765 |
G |
A |
17: 64,826,873 (GRCm39) |
|
noncoding transcript |
Het |
Brd10 |
A |
G |
19: 29,731,077 (GRCm39) |
F712S |
possibly damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,386,455 (GRCm39) |
F194S |
probably damaging |
Het |
Cdc42bpg |
A |
G |
19: 6,360,339 (GRCm39) |
Y175C |
probably damaging |
Het |
Cep170b |
G |
T |
12: 112,702,172 (GRCm39) |
D322Y |
probably damaging |
Het |
Cflar |
T |
A |
1: 58,791,784 (GRCm39) |
Y362* |
probably null |
Het |
Chml |
A |
T |
1: 175,514,825 (GRCm39) |
C365* |
probably null |
Het |
Clrn3 |
A |
C |
7: 135,115,753 (GRCm39) |
I199S |
possibly damaging |
Het |
Crtam |
G |
C |
9: 40,915,846 (GRCm39) |
P13A |
probably benign |
Het |
Defb26 |
T |
A |
2: 152,350,195 (GRCm39) |
K28N |
possibly damaging |
Het |
Dennd1c |
G |
A |
17: 57,380,889 (GRCm39) |
|
probably benign |
Het |
Dgkz |
A |
T |
2: 91,768,323 (GRCm39) |
M761K |
possibly damaging |
Het |
Dnhd1 |
A |
T |
7: 105,323,183 (GRCm39) |
M564L |
probably benign |
Het |
Dusp15 |
A |
G |
2: 152,787,341 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,139,159 (GRCm39) |
|
probably null |
Het |
Eapp |
A |
T |
12: 54,720,513 (GRCm39) |
M234K |
probably benign |
Het |
Epha8 |
T |
C |
4: 136,667,554 (GRCm39) |
D309G |
probably benign |
Het |
Gfi1b |
T |
C |
2: 28,500,125 (GRCm39) |
K302R |
possibly damaging |
Het |
Gimap3 |
A |
T |
6: 48,742,683 (GRCm39) |
F82L |
probably damaging |
Het |
Gm4862 |
T |
C |
3: 138,834,253 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch1 |
A |
G |
7: 34,994,947 (GRCm39) |
S440P |
probably damaging |
Het |
Gpr152 |
A |
G |
19: 4,192,531 (GRCm39) |
D24G |
probably damaging |
Het |
Gpr6 |
T |
C |
10: 40,947,477 (GRCm39) |
E35G |
probably benign |
Het |
Hip1r |
T |
A |
5: 124,134,134 (GRCm39) |
M270K |
probably damaging |
Het |
Hk3 |
C |
T |
13: 55,159,204 (GRCm39) |
V451I |
probably damaging |
Het |
Itprid1 |
G |
T |
6: 55,874,666 (GRCm39) |
L205F |
probably damaging |
Het |
Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
Klf16 |
G |
A |
10: 80,412,739 (GRCm39) |
A99V |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
Lvrn |
A |
T |
18: 47,011,387 (GRCm39) |
Y448F |
probably benign |
Het |
Mark3 |
A |
G |
12: 111,584,799 (GRCm39) |
M132V |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,237,444 (GRCm39) |
Y577H |
probably damaging |
Het |
Med24 |
A |
T |
11: 98,609,642 (GRCm39) |
|
probably null |
Het |
Mif |
G |
T |
10: 75,695,681 (GRCm39) |
H41N |
possibly damaging |
Het |
Myo18b |
T |
C |
5: 112,908,222 (GRCm39) |
N2017S |
probably benign |
Het |
Neurl4 |
C |
T |
11: 69,797,959 (GRCm39) |
R740C |
probably damaging |
Het |
Nlgn1 |
G |
T |
3: 26,385,939 (GRCm39) |
|
probably benign |
Het |
Or10ad1c |
T |
A |
15: 98,085,462 (GRCm39) |
H72L |
probably benign |
Het |
Or2ak6 |
T |
A |
11: 58,593,172 (GRCm39) |
L215Q |
probably damaging |
Het |
Or5t15 |
A |
G |
2: 86,681,745 (GRCm39) |
M99T |
probably benign |
Het |
Or8b12i |
A |
G |
9: 20,082,477 (GRCm39) |
L130P |
probably damaging |
Het |
Paip1 |
T |
A |
13: 119,593,550 (GRCm39) |
M463K |
probably damaging |
Het |
Parp3 |
T |
A |
9: 106,351,931 (GRCm39) |
Y147F |
probably damaging |
Het |
Pgrmc2 |
C |
A |
3: 41,037,473 (GRCm39) |
|
probably benign |
Het |
Phldb3 |
G |
A |
7: 24,316,832 (GRCm39) |
A278T |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,924,715 (GRCm39) |
|
probably null |
Het |
Pphln1 |
A |
G |
15: 93,386,868 (GRCm39) |
D234G |
possibly damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,032 (GRCm39) |
S753G |
probably benign |
Het |
Prss32 |
A |
G |
17: 24,075,024 (GRCm39) |
R125G |
possibly damaging |
Het |
Psg22 |
A |
T |
7: 18,453,635 (GRCm39) |
N149I |
probably damaging |
Het |
Psmd11 |
T |
C |
11: 80,319,570 (GRCm39) |
L20P |
probably damaging |
Het |
Recql5 |
T |
C |
11: 115,788,017 (GRCm39) |
Y434C |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,386,303 (GRCm39) |
S252P |
probably benign |
Het |
Sdr9c7 |
A |
G |
10: 127,739,503 (GRCm39) |
K206R |
probably benign |
Het |
Slc17a8 |
T |
C |
10: 89,413,777 (GRCm39) |
M484V |
probably benign |
Het |
Slc1a2 |
A |
G |
2: 102,607,950 (GRCm39) |
N530D |
probably benign |
Het |
Slc25a14 |
G |
A |
X: 47,740,840 (GRCm39) |
V210I |
probably benign |
Het |
Slc25a24 |
A |
T |
3: 109,043,581 (GRCm39) |
E79D |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,770,786 (GRCm39) |
Y132C |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,221,082 (GRCm39) |
D545G |
probably damaging |
Het |
Sorcs2 |
A |
G |
5: 36,228,731 (GRCm39) |
S104P |
possibly damaging |
Het |
Speg |
C |
T |
1: 75,408,052 (GRCm39) |
T3249I |
possibly damaging |
Het |
Spry4 |
A |
G |
18: 38,723,142 (GRCm39) |
I207T |
possibly damaging |
Het |
Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,937,358 (GRCm39) |
L1230P |
probably damaging |
Het |
Tesk2 |
A |
G |
4: 116,599,021 (GRCm39) |
Y43C |
probably benign |
Het |
Tex101 |
A |
G |
7: 24,367,650 (GRCm39) |
V234A |
probably benign |
Het |
Tmem161b |
T |
A |
13: 84,441,585 (GRCm39) |
L210Q |
probably damaging |
Het |
Tmprss11f |
T |
A |
5: 86,692,723 (GRCm39) |
Q67L |
probably benign |
Het |
Tnfrsf23 |
A |
G |
7: 143,222,291 (GRCm39) |
F174L |
probably benign |
Het |
Tnrc6c |
A |
G |
11: 117,646,849 (GRCm39) |
D1450G |
possibly damaging |
Het |
Trdmt1 |
A |
G |
2: 13,516,420 (GRCm39) |
L386P |
probably damaging |
Het |
Trim25 |
A |
T |
11: 88,895,576 (GRCm39) |
T206S |
probably benign |
Het |
Trit1 |
T |
C |
4: 122,948,033 (GRCm39) |
I451T |
probably benign |
Het |
Trpc4 |
T |
A |
3: 54,187,311 (GRCm39) |
M421K |
probably damaging |
Het |
Ttc34 |
G |
A |
4: 154,950,139 (GRCm39) |
A1031T |
possibly damaging |
Het |
Ttn |
A |
C |
2: 76,715,834 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,577,522 (GRCm39) |
D24457V |
probably damaging |
Het |
Ubiad1 |
A |
G |
4: 148,528,468 (GRCm39) |
L147P |
probably damaging |
Het |
Vmn2r94 |
G |
A |
17: 18,464,554 (GRCm39) |
R579* |
probably null |
Het |
Vps72 |
T |
A |
3: 95,029,851 (GRCm39) |
V290D |
probably benign |
Het |
Wipf2 |
C |
T |
11: 98,783,236 (GRCm39) |
R221* |
probably null |
Het |
Zfp26 |
A |
G |
9: 20,348,849 (GRCm39) |
Y572H |
probably benign |
Het |
Zfp292 |
A |
G |
4: 34,807,452 (GRCm39) |
V1864A |
probably benign |
Het |
Zfp952 |
A |
T |
17: 33,222,643 (GRCm39) |
H374L |
possibly damaging |
Het |
Zfy2 |
C |
A |
Y: 2,121,496 (GRCm39) |
M132I |
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 |
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'- GGGGAACAGTTTTAGAGTCAAGATC -3'
(R):5'- AACCAGAGCGTGTACTGTCC -3'
Sequencing Primer
(F):5'- CAGTTTTAGAGTCAAGATCCTCTGC -3'
(R):5'- AGCGTGTACTGTCCAGGGTAAC -3'
|
Posted On |
2014-07-14 |