Incidental Mutation 'R1673:Cacna2d1'
| ID |
187794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna2d1
|
| Ensembl Gene |
ENSMUSG00000040118 |
| Gene Name |
calcium channel, voltage-dependent, alpha2/delta subunit 1 |
| Synonyms |
Cchl2a, Cacna2, Ca(v)alpha2delta1 |
| MMRRC Submission |
039709-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R1673 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16504988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 314
(N314I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039370]
[ENSMUST00000078272]
[ENSMUST00000101581]
[ENSMUST00000115281]
[ENSMUST00000167946]
[ENSMUST00000180204]
[ENSMUST00000199704]
|
| AlphaFold |
O08532 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039370
AA Change: N314I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: N314I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
104 |
223 |
6.3e-42 |
PFAM |
|
VWA
|
251 |
425 |
5.16e-25 |
SMART |
|
Pfam:Cache_1
|
446 |
536 |
1e-31 |
PFAM |
|
Pfam:VGCC_alpha2
|
562 |
655 |
1e-46 |
PFAM |
|
low complexity region
|
675 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078272
AA Change: N314I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: N314I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
104 |
223 |
1.2e-45 |
PFAM |
|
VWA
|
251 |
425 |
5.16e-25 |
SMART |
|
Pfam:Cache_1
|
446 |
537 |
1.1e-30 |
PFAM |
|
Pfam:VGCC_alpha2
|
543 |
634 |
3.3e-53 |
PFAM |
|
low complexity region
|
656 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101581
AA Change: N314I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: N314I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
104 |
223 |
1.2e-45 |
PFAM |
|
VWA
|
251 |
425 |
5.16e-25 |
SMART |
|
Pfam:Cache_1
|
446 |
537 |
1.1e-30 |
PFAM |
|
Pfam:VGCC_alpha2
|
543 |
636 |
1.2e-59 |
PFAM |
|
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115281
AA Change: N314I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: N314I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
104 |
223 |
6.2e-46 |
PFAM |
|
VWA
|
251 |
425 |
5.16e-25 |
SMART |
|
Pfam:Cache_1
|
446 |
533 |
3.8e-30 |
PFAM |
|
Pfam:VGCC_alpha2
|
538 |
631 |
6.2e-60 |
PFAM |
|
low complexity region
|
658 |
669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167946
AA Change: N314I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: N314I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
104 |
223 |
3.8e-46 |
PFAM |
|
VWA
|
251 |
425 |
5.16e-25 |
SMART |
|
Pfam:Cache_1
|
446 |
537 |
2.6e-30 |
PFAM |
|
Pfam:VGCC_alpha2
|
543 |
636 |
5.5e-56 |
PFAM |
|
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180204
AA Change: N314I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: N314I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
104 |
223 |
6.2e-46 |
PFAM |
|
VWA
|
251 |
425 |
5.16e-25 |
SMART |
|
Pfam:Cache_1
|
446 |
533 |
3.8e-30 |
PFAM |
|
Pfam:VGCC_alpha2
|
538 |
631 |
6.2e-60 |
PFAM |
|
low complexity region
|
658 |
669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199704
AA Change: N314I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: N314I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
104 |
223 |
1.2e-45 |
PFAM |
|
VWA
|
251 |
425 |
5.16e-25 |
SMART |
|
Pfam:Cache_1
|
446 |
533 |
6.3e-30 |
PFAM |
|
Pfam:VGCC_alpha2
|
538 |
629 |
3.3e-53 |
PFAM |
|
low complexity region
|
651 |
662 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a regulatory component of the voltage-dependent calcium channel complex. The product of this gene is a proprotein that is proteolytically processed into alpha-2 and delta subunits, which are linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,103,165 (GRCm39) |
S809G |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,725,161 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
A |
G |
1: 92,934,606 (GRCm39) |
Q161R |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,028,689 (GRCm39) |
I926T |
probably benign |
Het |
| Cd209d |
A |
G |
8: 3,927,113 (GRCm39) |
S81P |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,007,086 (GRCm39) |
K554* |
probably null |
Het |
| Celsr1 |
A |
G |
15: 85,816,658 (GRCm39) |
Y1762H |
probably benign |
Het |
| Cklf |
A |
G |
8: 104,983,983 (GRCm39) |
T49A |
possibly damaging |
Het |
| Col12a1 |
T |
G |
9: 79,600,820 (GRCm39) |
I755L |
probably benign |
Het |
| Cts3 |
G |
A |
13: 61,715,368 (GRCm39) |
Q140* |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,294,967 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
C |
A |
7: 119,570,402 (GRCm39) |
E2262* |
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,290,294 (GRCm39) |
N1228S |
probably benign |
Het |
| Dsg1a |
G |
A |
18: 20,464,561 (GRCm39) |
R352Q |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,042,679 (GRCm39) |
F25L |
probably damaging |
Het |
| Efhd1 |
T |
A |
1: 87,192,404 (GRCm39) |
V78D |
probably damaging |
Het |
| Eif5a2 |
T |
C |
3: 28,847,967 (GRCm39) |
|
probably null |
Het |
| Elp2 |
T |
A |
18: 24,744,983 (GRCm39) |
V101D |
possibly damaging |
Het |
| Enpp2 |
A |
T |
15: 54,773,592 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
G |
1: 164,007,089 (GRCm39) |
T298A |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,146,129 (GRCm39) |
R584L |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,211,196 (GRCm39) |
F368L |
possibly damaging |
Het |
| Gcn1 |
T |
C |
5: 115,720,356 (GRCm39) |
I409T |
probably benign |
Het |
| Gm12887 |
T |
C |
4: 121,473,655 (GRCm39) |
Y65C |
probably damaging |
Het |
| Gria4 |
G |
A |
9: 4,537,637 (GRCm39) |
Q224* |
probably null |
Het |
| Hdac5 |
C |
T |
11: 102,089,631 (GRCm39) |
V860M |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,212,417 (GRCm39) |
R1302C |
probably damaging |
Het |
| Kcns2 |
A |
T |
15: 34,838,966 (GRCm39) |
I110F |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,846,036 (GRCm39) |
T822A |
probably damaging |
Het |
| Mapk6 |
T |
C |
9: 75,302,851 (GRCm39) |
D214G |
probably damaging |
Het |
| Mcm2 |
A |
T |
6: 88,869,060 (GRCm39) |
L264Q |
probably benign |
Het |
| Mpnd |
A |
T |
17: 56,317,455 (GRCm39) |
Y64F |
probably damaging |
Het |
| Muc1 |
T |
A |
3: 89,139,079 (GRCm39) |
M520K |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,577,276 (GRCm39) |
S189T |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,242,945 (GRCm39) |
S953P |
possibly damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,230 (GRCm39) |
M281L |
probably benign |
Het |
| Nipal2 |
A |
G |
15: 34,648,841 (GRCm39) |
I116T |
probably damaging |
Het |
| Nptn |
T |
C |
9: 58,531,015 (GRCm39) |
L46P |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,214 (GRCm39) |
S160T |
probably damaging |
Het |
| Or4k77 |
A |
G |
2: 111,199,552 (GRCm39) |
T192A |
probably benign |
Het |
| Or51ag1 |
C |
A |
7: 103,155,896 (GRCm39) |
V86F |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,325 (GRCm39) |
F113I |
probably damaging |
Het |
| Pgr |
A |
T |
9: 8,902,069 (GRCm39) |
Y534F |
possibly damaging |
Het |
| Pip4k2a |
A |
T |
2: 18,877,093 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
C |
G |
8: 117,767,514 (GRCm39) |
V1259L |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,085,426 (GRCm39) |
E457G |
probably damaging |
Het |
| Rasa4 |
T |
A |
5: 136,133,491 (GRCm39) |
V650D |
probably benign |
Het |
| Rem2 |
C |
T |
14: 54,713,766 (GRCm39) |
|
probably benign |
Het |
| Rps18-ps6 |
A |
T |
13: 97,896,868 (GRCm39) |
Y77N |
possibly damaging |
Het |
| Sdc1 |
G |
A |
12: 8,840,409 (GRCm39) |
R62Q |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 141,934,261 (GRCm39) |
E366G |
possibly damaging |
Het |
| Setd2 |
T |
A |
9: 110,433,248 (GRCm39) |
H2406Q |
probably damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,949,891 (GRCm39) |
V397A |
probably benign |
Het |
| Slc36a2 |
A |
T |
11: 55,075,739 (GRCm39) |
L16H |
possibly damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,542,468 (GRCm39) |
V334A |
probably benign |
Het |
| Sox8 |
A |
T |
17: 25,786,456 (GRCm39) |
Y416N |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,387,807 (GRCm39) |
V1416A |
possibly damaging |
Het |
| Stimate |
T |
C |
14: 30,586,391 (GRCm39) |
L72S |
possibly damaging |
Het |
| Stk24 |
T |
A |
14: 121,574,983 (GRCm39) |
I42F |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,634,498 (GRCm39) |
|
probably null |
Het |
| Tcerg1 |
T |
A |
18: 42,685,646 (GRCm39) |
L661Q |
possibly damaging |
Het |
| Tpp1 |
G |
A |
7: 105,396,880 (GRCm39) |
R417W |
probably damaging |
Het |
| Trim12a |
T |
A |
7: 103,955,264 (GRCm39) |
D153V |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,778,778 (GRCm39) |
N396S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,637,427 (GRCm39) |
K5695R |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,640,631 (GRCm39) |
R11960C |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,310,906 (GRCm39) |
|
probably null |
Het |
| Uaca |
T |
A |
9: 60,779,438 (GRCm39) |
L1273H |
probably damaging |
Het |
| Usp33 |
A |
G |
3: 152,073,919 (GRCm39) |
E255G |
probably damaging |
Het |
| Vmn2r54 |
T |
G |
7: 12,350,138 (GRCm39) |
|
probably null |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,423,315 (GRCm39) |
F116L |
probably benign |
Het |
| Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 35,115,284 (GRCm39) |
|
probably null |
Het |
| Zbtb12 |
TCATC |
TCATCCATC |
17: 35,115,286 (GRCm39) |
|
probably null |
Het |
| Zfp408 |
G |
A |
2: 91,476,353 (GRCm39) |
T367I |
probably damaging |
Het |
| Zfp512b |
G |
A |
2: 181,230,286 (GRCm39) |
A480V |
possibly damaging |
Het |
| Zfp560 |
T |
C |
9: 20,258,949 (GRCm39) |
T638A |
probably benign |
Het |
| Zfp932 |
G |
T |
5: 110,156,854 (GRCm39) |
G151V |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,302,696 (GRCm39) |
K320E |
probably damaging |
Het |
| Zranb2 |
C |
T |
3: 157,243,277 (GRCm39) |
P91L |
probably damaging |
Het |
|
| Other mutations in Cacna2d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Cacna2d1
|
APN |
5 |
16,417,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00470:Cacna2d1
|
APN |
5 |
16,451,654 (GRCm39) |
splice site |
probably benign |
|
|
IGL00495:Cacna2d1
|
APN |
5 |
16,575,607 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00538:Cacna2d1
|
APN |
5 |
16,451,783 (GRCm39) |
nonsense |
probably null |
|
|
IGL00990:Cacna2d1
|
APN |
5 |
16,140,067 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01079:Cacna2d1
|
APN |
5 |
16,575,646 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01344:Cacna2d1
|
APN |
5 |
16,575,629 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01597:Cacna2d1
|
APN |
5 |
16,531,390 (GRCm39) |
splice site |
probably benign |
|
|
IGL01645:Cacna2d1
|
APN |
5 |
16,217,389 (GRCm39) |
splice site |
probably null |
|
|
IGL01959:Cacna2d1
|
APN |
5 |
16,417,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02397:Cacna2d1
|
APN |
5 |
16,525,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL03152:Cacna2d1
|
APN |
5 |
16,527,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03216:Cacna2d1
|
APN |
5 |
16,558,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03374:Cacna2d1
|
APN |
5 |
16,561,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4283001:Cacna2d1
|
UTSW |
5 |
16,507,292 (GRCm39) |
missense |
probably benign |
0.31 |
|
PIT4585001:Cacna2d1
|
UTSW |
5 |
16,531,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Cacna2d1
|
UTSW |
5 |
16,566,815 (GRCm39) |
splice site |
probably benign |
|
|
R0457:Cacna2d1
|
UTSW |
5 |
16,472,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Cacna2d1
|
UTSW |
5 |
16,399,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0483:Cacna2d1
|
UTSW |
5 |
16,564,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0532:Cacna2d1
|
UTSW |
5 |
16,567,271 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0552:Cacna2d1
|
UTSW |
5 |
16,533,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Cacna2d1
|
UTSW |
5 |
16,570,860 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0930:Cacna2d1
|
UTSW |
5 |
16,570,860 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1144:Cacna2d1
|
UTSW |
5 |
16,527,595 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1164:Cacna2d1
|
UTSW |
5 |
16,566,874 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1398:Cacna2d1
|
UTSW |
5 |
16,562,764 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1440:Cacna2d1
|
UTSW |
5 |
16,560,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Cacna2d1
|
UTSW |
5 |
16,471,716 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1573:Cacna2d1
|
UTSW |
5 |
16,575,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Cacna2d1
|
UTSW |
5 |
16,525,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Cacna2d1
|
UTSW |
5 |
16,469,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1753:Cacna2d1
|
UTSW |
5 |
16,507,352 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1966:Cacna2d1
|
UTSW |
5 |
16,538,783 (GRCm39) |
nonsense |
probably null |
|
|
R2163:Cacna2d1
|
UTSW |
5 |
16,567,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Cacna2d1
|
UTSW |
5 |
16,562,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Cacna2d1
|
UTSW |
5 |
16,517,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Cacna2d1
|
UTSW |
5 |
16,517,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Cacna2d1
|
UTSW |
5 |
16,507,246 (GRCm39) |
splice site |
probably null |
|
|
R4804:Cacna2d1
|
UTSW |
5 |
16,564,206 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5032:Cacna2d1
|
UTSW |
5 |
16,564,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5080:Cacna2d1
|
UTSW |
5 |
16,567,394 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5466:Cacna2d1
|
UTSW |
5 |
16,451,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Cacna2d1
|
UTSW |
5 |
16,557,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5564:Cacna2d1
|
UTSW |
5 |
16,517,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Cacna2d1
|
UTSW |
5 |
16,507,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Cacna2d1
|
UTSW |
5 |
16,563,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5729:Cacna2d1
|
UTSW |
5 |
16,140,037 (GRCm39) |
nonsense |
probably null |
|
|
R6005:Cacna2d1
|
UTSW |
5 |
16,566,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6343:Cacna2d1
|
UTSW |
5 |
16,527,562 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6485:Cacna2d1
|
UTSW |
5 |
16,559,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6486:Cacna2d1
|
UTSW |
5 |
16,524,448 (GRCm39) |
splice site |
probably null |
|
|
R6625:Cacna2d1
|
UTSW |
5 |
16,567,391 (GRCm39) |
missense |
probably null |
1.00 |
|
R6700:Cacna2d1
|
UTSW |
5 |
16,570,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6706:Cacna2d1
|
UTSW |
5 |
16,531,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6711:Cacna2d1
|
UTSW |
5 |
16,505,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Cacna2d1
|
UTSW |
5 |
16,557,666 (GRCm39) |
nonsense |
probably null |
|
|
R7035:Cacna2d1
|
UTSW |
5 |
16,451,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Cacna2d1
|
UTSW |
5 |
16,554,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Cacna2d1
|
UTSW |
5 |
16,562,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7268:Cacna2d1
|
UTSW |
5 |
16,575,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7310:Cacna2d1
|
UTSW |
5 |
16,519,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Cacna2d1
|
UTSW |
5 |
16,139,973 (GRCm39) |
start gained |
probably benign |
|
|
R7608:Cacna2d1
|
UTSW |
5 |
16,564,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Cacna2d1
|
UTSW |
5 |
16,567,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8014:Cacna2d1
|
UTSW |
5 |
16,547,689 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8161:Cacna2d1
|
UTSW |
5 |
16,519,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R8670:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R8682:Cacna2d1
|
UTSW |
5 |
16,558,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8697:Cacna2d1
|
UTSW |
5 |
16,570,865 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8807:Cacna2d1
|
UTSW |
5 |
16,472,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8834:Cacna2d1
|
UTSW |
5 |
16,471,735 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9135:Cacna2d1
|
UTSW |
5 |
16,558,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Cacna2d1
|
UTSW |
5 |
16,140,039 (GRCm39) |
missense |
probably benign |
|
|
R9169:Cacna2d1
|
UTSW |
5 |
16,451,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Cacna2d1
|
UTSW |
5 |
16,217,396 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9296:Cacna2d1
|
UTSW |
5 |
16,564,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R9394:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R9395:Cacna2d1
|
UTSW |
5 |
16,140,013 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R9484:Cacna2d1
|
UTSW |
5 |
16,561,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Cacna2d1
|
UTSW |
5 |
16,230,774 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1088:Cacna2d1
|
UTSW |
5 |
16,399,761 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGCCCTTTCTGGTGAGTAACAG -3'
(R):5'- CCGCAAATTTCAATGGTGGGCAG -3'
Sequencing Primer
(F):5'- TGTGTCCTGAGCAAGCATATC -3'
(R):5'- TAGCTGTTCGAAGGCAAAGC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation