Incidental Mutation 'R5898:Cacna2d4'
| ID |
457649 |
| 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 |
044097-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5898 (G1)
|
| Quality Score |
113 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119251192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 460
(Y460C)
|
| 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: Y460C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: Y460C
| 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 |
probably damaging
Transcript: ENSMUST00000186622
AA Change: Y460C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: Y460C
| 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 |
0.7847 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
96% (86/90) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
G |
T |
10: 100,448,762 (GRCm39) |
R158L |
possibly damaging |
Het |
| 1700017N19Rik |
G |
A |
10: 100,451,070 (GRCm39) |
M179I |
probably benign |
Het |
| Abhd12 |
T |
C |
2: 150,681,698 (GRCm39) |
I231V |
possibly damaging |
Het |
| Adsl |
A |
G |
15: 80,845,554 (GRCm39) |
|
probably null |
Het |
| Ahnak |
C |
A |
19: 8,991,131 (GRCm39) |
N4138K |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,995,575 (GRCm39) |
S5620P |
probably damaging |
Het |
| Akap13 |
C |
T |
7: 75,378,894 (GRCm39) |
T2145I |
probably damaging |
Het |
| Alpk2 |
T |
A |
18: 65,440,694 (GRCm39) |
Q700L |
probably damaging |
Het |
| Apobec1 |
T |
C |
6: 122,557,732 (GRCm39) |
Y159C |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,162,916 (GRCm39) |
T395A |
probably damaging |
Het |
| Atp6v1f |
A |
G |
6: 29,467,957 (GRCm39) |
I48V |
probably benign |
Het |
| BC051665 |
A |
C |
13: 60,930,518 (GRCm39) |
V278G |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,415,201 (GRCm39) |
H638L |
probably damaging |
Het |
| Ccdc157 |
C |
A |
11: 4,094,538 (GRCm39) |
R496L |
probably benign |
Het |
| Cdcp3 |
T |
G |
7: 130,843,696 (GRCm39) |
|
probably null |
Het |
| Cep44 |
C |
G |
8: 56,994,056 (GRCm39) |
V174L |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,722,522 (GRCm39) |
F283L |
possibly damaging |
Het |
| Csk |
T |
C |
9: 57,537,585 (GRCm39) |
T110A |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,792,506 (GRCm39) |
|
probably null |
Het |
| Cutc |
A |
G |
19: 43,748,468 (GRCm39) |
I124V |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,725 (GRCm39) |
T104A |
probably benign |
Het |
| Cyp2j9 |
G |
T |
4: 96,465,951 (GRCm39) |
T294K |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,046,577 (GRCm39) |
|
probably null |
Het |
| Dcaf15 |
G |
T |
8: 84,825,081 (GRCm39) |
F450L |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,840,125 (GRCm39) |
I723K |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 118,005,039 (GRCm39) |
A782T |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,677,724 (GRCm39) |
D399G |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,148,717 (GRCm39) |
N909S |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,975,813 (GRCm39) |
|
probably null |
Het |
| Fanci |
G |
A |
7: 79,083,069 (GRCm39) |
V682I |
probably benign |
Het |
| Fap |
A |
T |
2: 62,403,847 (GRCm39) |
F9L |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,849,757 (GRCm39) |
I3882V |
probably benign |
Het |
| Fkbp15 |
A |
T |
4: 62,244,294 (GRCm39) |
|
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,186,975 (GRCm39) |
Y601C |
probably damaging |
Het |
| Gm5900 |
T |
C |
7: 104,599,468 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd4 |
G |
T |
15: 85,984,985 (GRCm39) |
G82V |
probably damaging |
Het |
| Hc |
C |
T |
2: 34,887,449 (GRCm39) |
V1352I |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,548,623 (GRCm39) |
N466K |
probably damaging |
Het |
| Ice2 |
T |
A |
9: 69,315,544 (GRCm39) |
D133E |
probably benign |
Het |
| Ifi213 |
T |
C |
1: 173,396,545 (GRCm39) |
M510V |
probably benign |
Het |
| Itpkb |
T |
G |
1: 180,248,880 (GRCm39) |
L861R |
probably damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,476 (GRCm39) |
D283E |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Masp1 |
T |
A |
16: 23,310,677 (GRCm39) |
I252F |
probably damaging |
Het |
| Megf11 |
G |
T |
9: 64,593,246 (GRCm39) |
C586F |
probably damaging |
Het |
| Myh2 |
C |
A |
11: 67,083,545 (GRCm39) |
A1476E |
possibly damaging |
Het |
| Myo18b |
A |
T |
5: 112,950,196 (GRCm39) |
|
probably null |
Het |
| Naip6 |
A |
T |
13: 100,435,829 (GRCm39) |
V898E |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,512,884 (GRCm39) |
M59V |
probably benign |
Het |
| Nlrp3 |
A |
T |
11: 59,437,678 (GRCm39) |
Y119F |
probably benign |
Het |
| Oxa1l |
T |
A |
14: 54,600,758 (GRCm39) |
I77N |
possibly damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,490,537 (GRCm39) |
D738E |
possibly damaging |
Het |
| Pdia5 |
A |
T |
16: 35,243,335 (GRCm39) |
W269R |
probably damaging |
Het |
| Peak1 |
T |
A |
9: 56,114,622 (GRCm39) |
T1440S |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,214,682 (GRCm39) |
V1547A |
probably benign |
Het |
| Pkp1 |
T |
C |
1: 135,810,259 (GRCm39) |
Y437C |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,253,104 (GRCm39) |
D1329G |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,671,887 (GRCm39) |
|
probably benign |
Het |
| Prrg4 |
C |
T |
2: 104,675,378 (GRCm39) |
S75N |
probably benign |
Het |
| Psmb9 |
T |
A |
17: 34,401,266 (GRCm39) |
I198F |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,399,405 (GRCm39) |
L23* |
probably null |
Het |
| Sbno1 |
A |
T |
5: 124,524,854 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,345,039 (GRCm39) |
E483G |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,652,388 (GRCm39) |
D46E |
probably benign |
Het |
| Selenov |
A |
G |
7: 27,987,579 (GRCm39) |
F293L |
probably damaging |
Het |
| Septin2 |
A |
C |
1: 93,407,023 (GRCm39) |
D20A |
probably benign |
Het |
| Shc1 |
T |
A |
3: 89,334,274 (GRCm39) |
Y313* |
probably null |
Het |
| Siglec1 |
T |
A |
2: 130,915,553 (GRCm39) |
Y1346F |
probably damaging |
Het |
| Slc22a5 |
T |
A |
11: 53,764,559 (GRCm39) |
I296F |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,365,123 (GRCm39) |
N152S |
probably damaging |
Het |
| Smoc1 |
C |
T |
12: 81,151,531 (GRCm39) |
R83* |
probably null |
Het |
| Ssx2ip |
A |
G |
3: 146,133,586 (GRCm39) |
D227G |
possibly damaging |
Het |
| Tbrg4 |
T |
C |
11: 6,567,372 (GRCm39) |
D576G |
probably damaging |
Het |
| Tbx20 |
T |
A |
9: 24,670,155 (GRCm39) |
Y226F |
probably damaging |
Het |
| Trav10d |
G |
T |
14: 53,048,929 (GRCm39) |
A107S |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,016 (GRCm39) |
L411* |
probably null |
Het |
| Ttbk2 |
A |
T |
2: 120,575,521 (GRCm39) |
V1083D |
probably benign |
Het |
| Unc93a |
T |
A |
17: 13,344,464 (GRCm39) |
Q26L |
probably damaging |
Het |
| Usp14 |
T |
A |
18: 10,022,819 (GRCm39) |
N65I |
possibly damaging |
Het |
| Vip |
A |
T |
10: 5,593,988 (GRCm39) |
S114C |
probably damaging |
Het |
| Vmn1r237 |
A |
T |
17: 21,534,813 (GRCm39) |
I179F |
probably damaging |
Het |
| Wdr47 |
T |
A |
3: 108,545,201 (GRCm39) |
|
probably null |
Het |
| Zfp975 |
A |
T |
7: 42,311,963 (GRCm39) |
C217S |
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 |
|
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 |
|
|
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'- GAGCAGAGAAGGCCTTTCTTTG -3'
(R):5'- CACAACGTTAGACTCTCCGG -3'
Sequencing Primer
(F):5'- TGTCTTGTACTAGGAGACAAGGC -3'
(R):5'- GTTAGACTCTCCGGACCAAGATGTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation