Incidental Mutation 'R1809:Cacna2d4'
| ID |
203689 |
| 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 |
039838-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1809 (G1)
|
| Quality Score |
150 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 119247785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 362
(R362L)
|
| 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: R362L
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: R362L
| 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: R362L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: R362L
| 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 |
0.3214 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
| Validation Efficiency |
96% (107/111) |
| 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: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
A |
G |
5: 36,000,614 (GRCm39) |
|
probably benign |
Het |
| Adamts20 |
C |
T |
15: 94,238,968 (GRCm39) |
S750N |
probably damaging |
Het |
| Adh6a |
G |
A |
3: 138,036,722 (GRCm39) |
R370H |
possibly damaging |
Het |
| Akr1b7 |
A |
G |
6: 34,396,046 (GRCm39) |
N183D |
probably damaging |
Het |
| Aktip |
A |
T |
8: 91,856,348 (GRCm39) |
I43N |
probably damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,502,883 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
G |
A |
7: 140,688,717 (GRCm39) |
T144I |
possibly damaging |
Het |
| Anpep |
G |
T |
7: 79,491,571 (GRCm39) |
D143E |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,333,484 (GRCm39) |
Q234K |
probably benign |
Het |
| Ap1g1 |
C |
G |
8: 110,559,814 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
G |
A |
1: 34,849,636 (GRCm39) |
|
probably null |
Het |
| Arsj |
A |
G |
3: 126,231,944 (GRCm39) |
Y230C |
possibly damaging |
Het |
| Asmt |
C |
T |
X: 169,109,480 (GRCm39) |
|
probably benign |
Het |
| Astl |
A |
T |
2: 127,187,405 (GRCm39) |
K72N |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,780,704 (GRCm39) |
|
probably benign |
Het |
| Baiap2l1 |
A |
C |
5: 144,261,365 (GRCm39) |
|
probably null |
Het |
| C7 |
A |
T |
15: 5,063,821 (GRCm39) |
N193K |
probably damaging |
Het |
| Cct4 |
T |
A |
11: 22,947,615 (GRCm39) |
D189E |
probably benign |
Het |
| Cd300lg |
G |
A |
11: 101,933,938 (GRCm39) |
G62S |
probably benign |
Het |
| Cdk14 |
T |
A |
5: 5,060,901 (GRCm39) |
M307L |
probably damaging |
Het |
| Cfi |
G |
A |
3: 129,666,768 (GRCm39) |
|
probably null |
Het |
| Clec2g |
G |
T |
6: 128,957,273 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
T |
C |
6: 46,965,609 (GRCm39) |
S807P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,671 (GRCm39) |
H206L |
probably damaging |
Het |
| Ct55 |
A |
G |
X: 52,735,716 (GRCm39) |
E99G |
probably benign |
Het |
| Cyp2c23 |
A |
T |
19: 44,009,997 (GRCm39) |
|
probably benign |
Het |
| Degs1l |
T |
C |
1: 180,887,252 (GRCm39) |
I279T |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,965,767 (GRCm39) |
V1058A |
probably benign |
Het |
| Dpp9 |
A |
G |
17: 56,506,038 (GRCm39) |
Y454H |
probably damaging |
Het |
| Drosha |
G |
A |
15: 12,890,198 (GRCm39) |
G920R |
probably null |
Het |
| Duox2 |
A |
G |
2: 122,114,378 (GRCm39) |
S1142P |
possibly damaging |
Het |
| Fam13a |
C |
T |
6: 58,942,045 (GRCm39) |
|
probably null |
Het |
| Filip1l |
A |
G |
16: 57,327,023 (GRCm39) |
R18G |
probably benign |
Het |
| Foxa1 |
A |
G |
12: 57,589,527 (GRCm39) |
V231A |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,303 (GRCm39) |
M285K |
possibly damaging |
Het |
| Gm5084 |
T |
A |
13: 60,360,320 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6788 |
G |
A |
19: 28,740,586 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9922 |
G |
T |
14: 101,966,841 (GRCm39) |
|
probably benign |
Het |
| Gtf3c4 |
A |
T |
2: 28,723,988 (GRCm39) |
Y440* |
probably null |
Het |
| Helq |
A |
G |
5: 100,921,820 (GRCm39) |
S795P |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,489,997 (GRCm39) |
S151T |
possibly damaging |
Het |
| Irgm1 |
T |
C |
11: 48,757,440 (GRCm39) |
T124A |
probably benign |
Het |
| Itgam |
C |
T |
7: 127,670,109 (GRCm39) |
P134S |
possibly damaging |
Het |
| Kdm6a |
T |
C |
X: 18,102,923 (GRCm39) |
Y217H |
probably benign |
Het |
| Kif6 |
T |
C |
17: 50,208,812 (GRCm39) |
L744P |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,489,190 (GRCm39) |
R1203H |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,693,535 (GRCm39) |
T328A |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,034,281 (GRCm39) |
|
probably benign |
Het |
| Lpar3 |
G |
A |
3: 145,946,303 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,584,095 (GRCm39) |
F285S |
possibly damaging |
Het |
| Marchf7 |
A |
G |
2: 60,062,637 (GRCm39) |
D148G |
probably benign |
Het |
| Mcee |
T |
C |
7: 64,050,049 (GRCm39) |
L60S |
probably damaging |
Het |
| Mob2 |
A |
G |
7: 141,570,111 (GRCm39) |
I81T |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,909,909 (GRCm39) |
D87E |
probably damaging |
Het |
| Msantd5f9 |
A |
G |
4: 73,835,754 (GRCm39) |
F237L |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,462,283 (GRCm39) |
T560A |
probably benign |
Het |
| Nagk |
C |
T |
6: 83,774,169 (GRCm39) |
T42I |
probably benign |
Het |
| Naip1 |
G |
T |
13: 100,562,747 (GRCm39) |
T806K |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,195,857 (GRCm39) |
|
probably benign |
Het |
| Ocln |
G |
T |
13: 100,647,967 (GRCm39) |
Y401* |
probably null |
Het |
| Odad2 |
T |
A |
18: 7,211,630 (GRCm39) |
Y748F |
probably benign |
Het |
| Oma1 |
T |
A |
4: 103,182,374 (GRCm39) |
N292K |
probably damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,443 (GRCm39) |
V215I |
probably benign |
Het |
| Ovch2 |
T |
A |
7: 107,389,412 (GRCm39) |
|
probably null |
Het |
| Pcdhb16 |
T |
C |
18: 37,611,441 (GRCm39) |
F134L |
probably damaging |
Het |
| Pipox |
A |
T |
11: 77,772,360 (GRCm39) |
Y337N |
probably benign |
Het |
| Polr3b |
A |
G |
10: 84,528,865 (GRCm39) |
D763G |
probably damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,078 (GRCm39) |
N88K |
probably damaging |
Het |
| Rab3gap1 |
T |
C |
1: 127,862,251 (GRCm39) |
M674T |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,719,501 (GRCm39) |
|
probably benign |
Het |
| Rbm26 |
C |
T |
14: 105,354,542 (GRCm39) |
|
probably benign |
Het |
| Rbms2 |
G |
A |
10: 127,974,055 (GRCm39) |
T187I |
possibly damaging |
Het |
| Rnase11 |
T |
A |
14: 51,287,184 (GRCm39) |
R123S |
probably benign |
Het |
| Rngtt |
A |
G |
4: 33,443,614 (GRCm39) |
N485D |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,265,415 (GRCm39) |
M334L |
probably benign |
Het |
| Rps9 |
T |
A |
7: 3,707,726 (GRCm39) |
L56Q |
probably damaging |
Het |
| Saysd1 |
C |
A |
14: 20,133,170 (GRCm39) |
|
probably benign |
Het |
| Sema4d |
C |
T |
13: 51,867,727 (GRCm39) |
|
probably null |
Het |
| Shisa5 |
A |
T |
9: 108,869,998 (GRCm39) |
D34V |
probably damaging |
Het |
| Skil |
A |
G |
3: 31,171,655 (GRCm39) |
D547G |
probably damaging |
Het |
| Slc2a5 |
T |
A |
4: 150,227,514 (GRCm39) |
F444L |
probably damaging |
Het |
| Slc9b2 |
T |
G |
3: 135,022,892 (GRCm39) |
C10G |
possibly damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,386,564 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
T |
G |
1: 53,805,140 (GRCm39) |
K140N |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,033,549 (GRCm39) |
L404Q |
possibly damaging |
Het |
| Synj2 |
T |
C |
17: 6,076,826 (GRCm39) |
M432T |
possibly damaging |
Het |
| Tanc1 |
G |
T |
2: 59,630,441 (GRCm39) |
R800L |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,522,987 (GRCm39) |
M1473V |
probably benign |
Het |
| Tesc |
A |
G |
5: 118,199,667 (GRCm39) |
I190V |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,262 (GRCm39) |
F1231L |
probably benign |
Het |
| Thrsp |
T |
C |
7: 97,066,332 (GRCm39) |
I127V |
probably benign |
Het |
| Tlr6 |
A |
T |
5: 65,111,055 (GRCm39) |
C617* |
probably null |
Het |
| Trank1 |
A |
T |
9: 111,221,893 (GRCm39) |
I2877F |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,406,552 (GRCm39) |
H1373Q |
probably damaging |
Het |
| Ucp1 |
T |
C |
8: 84,024,496 (GRCm39) |
S274P |
probably damaging |
Het |
| Ucp2 |
T |
A |
7: 100,147,606 (GRCm39) |
V195E |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,973,108 (GRCm39) |
T394A |
probably damaging |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,371 (GRCm39) |
V98A |
possibly damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,918 (GRCm39) |
I120V |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,897,881 (GRCm39) |
M299L |
probably benign |
Het |
| Vmn2r25 |
A |
G |
6: 123,802,337 (GRCm39) |
V522A |
probably benign |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,130 (GRCm39) |
I135V |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,567,138 (GRCm39) |
|
probably benign |
Het |
| Zfp446 |
T |
C |
7: 12,713,048 (GRCm39) |
F29L |
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 |
|
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'- GCTTACTCTGTTCAGGCACC -3'
(R):5'- TTCTCCTAGAAGACAGTGCCAAG -3'
Sequencing Primer
(F):5'- TCAGTTGCCCAGGTGAGACATC -3'
(R):5'- TGCCAAGGATGAAGCTAACC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation