Incidental Mutation 'R9228:Cacna2d4'
| ID |
700007 |
| 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 # |
R9228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119248476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 429
(D429G)
|
| 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: D429G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: D429G
| 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 benign
Transcript: ENSMUST00000186622
AA Change: D429G
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: D429G
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (87/87) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810037I17Rik |
G |
A |
3: 122,718,274 (GRCm39) |
A56T |
probably benign |
Het |
| 4930438A08Rik |
A |
T |
11: 58,178,296 (GRCm39) |
I119F |
|
Het |
| Abca12 |
A |
T |
1: 71,332,599 (GRCm39) |
I1254N |
probably damaging |
Het |
| Abcb11 |
G |
T |
2: 69,138,809 (GRCm39) |
Y157* |
probably null |
Het |
| Adcy7 |
G |
A |
8: 89,044,675 (GRCm39) |
|
probably null |
Het |
| Adnp |
A |
G |
2: 168,026,798 (GRCm39) |
Y166H |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,275,279 (GRCm39) |
V493A |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,611,685 (GRCm39) |
T562A |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,504,320 (GRCm39) |
N296I |
possibly damaging |
Het |
| Ankar |
A |
G |
1: 72,713,210 (GRCm39) |
V693A |
probably benign |
Het |
| Ankrd16 |
T |
C |
2: 11,786,318 (GRCm39) |
V189A |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,757,338 (GRCm39) |
L47P |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,688,927 (GRCm39) |
E127D |
probably benign |
Het |
| Cd109 |
A |
T |
9: 78,577,042 (GRCm39) |
I580F |
possibly damaging |
Het |
| Cdrt4 |
T |
A |
11: 62,842,124 (GRCm39) |
I2N |
unknown |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Chuk |
A |
T |
19: 44,095,789 (GRCm39) |
W15R |
probably damaging |
Het |
| Cpvl |
C |
T |
6: 53,951,779 (GRCm39) |
M1I |
probably null |
Het |
| Cyfip1 |
A |
G |
7: 55,549,758 (GRCm39) |
M642V |
probably damaging |
Het |
| Dhh |
T |
A |
15: 98,795,757 (GRCm39) |
R133* |
probably null |
Het |
| Dnmt3b |
G |
A |
2: 153,507,980 (GRCm39) |
V212M |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,957,137 (GRCm39) |
S301G |
probably benign |
Het |
| Epas1 |
A |
C |
17: 87,133,990 (GRCm39) |
I500L |
possibly damaging |
Het |
| Ephb4 |
A |
T |
5: 137,352,824 (GRCm39) |
I136F |
possibly damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,320 (GRCm39) |
F18L |
unknown |
Het |
| Frem1 |
T |
C |
4: 82,920,057 (GRCm39) |
E432G |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,136,900 (GRCm39) |
S73C |
probably damaging |
Het |
| Hddc3 |
A |
G |
7: 79,993,328 (GRCm39) |
I52V |
probably benign |
Het |
| Hmgcll1 |
A |
T |
9: 75,991,732 (GRCm39) |
T252S |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Jph2 |
A |
G |
2: 163,180,606 (GRCm39) |
V675A |
probably benign |
Het |
| Kifap3 |
T |
C |
1: 163,689,666 (GRCm39) |
F550S |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Kplce |
C |
T |
3: 92,775,951 (GRCm39) |
G244D |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,625,932 (GRCm39) |
V643A |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,212,155 (GRCm39) |
M255I |
unknown |
Het |
| Layn |
T |
A |
9: 50,968,837 (GRCm39) |
D302V |
probably damaging |
Het |
| Lpcat4 |
A |
G |
2: 112,072,418 (GRCm39) |
I136V |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,382,807 (GRCm39) |
D3658V |
probably damaging |
Het |
| Metap1d |
T |
C |
2: 71,352,900 (GRCm39) |
L243S |
possibly damaging |
Het |
| Midn |
T |
A |
10: 79,990,275 (GRCm39) |
H315Q |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,050,888 (GRCm39) |
|
probably null |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,077,522 (GRCm39) |
S886P |
probably benign |
Het |
| Nemf |
T |
C |
12: 69,388,093 (GRCm39) |
I396V |
probably damaging |
Het |
| Nemp1 |
T |
G |
10: 127,525,227 (GRCm39) |
V127G |
possibly damaging |
Het |
| Nkx3-1 |
C |
T |
14: 69,428,227 (GRCm39) |
T25M |
possibly damaging |
Het |
| Nmral1 |
A |
C |
16: 4,531,631 (GRCm39) |
L208R |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,116,422 (GRCm39) |
I989N |
probably benign |
Het |
| Or12e7 |
T |
A |
2: 87,287,907 (GRCm39) |
C133S |
possibly damaging |
Het |
| Palld |
A |
T |
8: 62,173,571 (GRCm39) |
S363T |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,144,512 (GRCm39) |
D201G |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,366,081 (GRCm39) |
C339R |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,097,874 (GRCm39) |
T455A |
possibly damaging |
Het |
| Phc2 |
T |
C |
4: 128,617,062 (GRCm39) |
I445T |
probably damaging |
Het |
| Pmepa1 |
T |
C |
2: 173,117,962 (GRCm39) |
T6A |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,931,755 (GRCm39) |
F945L |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,640,063 (GRCm39) |
K13* |
probably null |
Het |
| Ptafr |
T |
C |
4: 132,306,613 (GRCm39) |
M1T |
probably null |
Het |
| Rbms1 |
G |
A |
2: 60,610,087 (GRCm39) |
P208S |
probably benign |
Het |
| Scg3 |
T |
A |
9: 75,558,955 (GRCm39) |
I419F |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,130,099 (GRCm39) |
T219A |
probably benign |
Het |
| Sec14l4 |
A |
G |
11: 3,989,977 (GRCm39) |
D92G |
probably damaging |
Het |
| Senp3 |
G |
T |
11: 69,569,085 (GRCm39) |
Q359K |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,172,857 (GRCm39) |
D142G |
probably damaging |
Het |
| Skint2 |
T |
C |
4: 112,483,039 (GRCm39) |
M148T |
possibly damaging |
Het |
| Slc30a10 |
T |
A |
1: 185,187,391 (GRCm39) |
M44K |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,524,792 (GRCm39) |
D99E |
probably damaging |
Het |
| Spg7 |
A |
G |
8: 123,807,408 (GRCm39) |
K395E |
possibly damaging |
Het |
| Sphk2 |
G |
A |
7: 45,360,337 (GRCm39) |
H556Y |
possibly damaging |
Het |
| Supt6 |
A |
C |
11: 78,116,612 (GRCm39) |
F637L |
probably benign |
Het |
| Tcam1 |
A |
G |
11: 106,177,292 (GRCm39) |
N428S |
probably damaging |
Het |
| Tctn3 |
C |
T |
19: 40,596,692 (GRCm39) |
R276K |
probably benign |
Het |
| Timm29 |
G |
A |
9: 21,504,656 (GRCm39) |
R108H |
probably damaging |
Het |
| Tlr9 |
A |
T |
9: 106,102,752 (GRCm39) |
E681V |
possibly damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tns3 |
T |
C |
11: 8,400,094 (GRCm39) |
K1169E |
probably damaging |
Het |
| Trim72 |
A |
C |
7: 127,608,315 (GRCm39) |
D271A |
possibly damaging |
Het |
| Trpv4 |
A |
T |
5: 114,772,622 (GRCm39) |
D369E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,583,192 (GRCm39) |
L22567P |
probably damaging |
Het |
| Uimc1 |
G |
A |
13: 55,223,652 (GRCm39) |
P207S |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,165,448 (GRCm39) |
V781E |
probably damaging |
Het |
| Upk3bl |
C |
T |
5: 136,086,076 (GRCm39) |
P4L |
unknown |
Het |
| Vmn1r201 |
A |
G |
13: 22,659,670 (GRCm39) |
N295D |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,064,697 (GRCm39) |
I63T |
probably benign |
Het |
| Zfyve28 |
T |
C |
5: 34,374,788 (GRCm39) |
T409A |
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 |
|
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'- TGAAACAGGTACCAACTGCTG -3'
(R):5'- CCAGGCTGCTGTAACTTTGG -3'
Sequencing Primer
(F):5'- CCAACTGCTGGCGGGAG -3'
(R):5'- CTTTGGGATACTCAGAACATACGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation