Incidental Mutation 'R5655:Cacna2d1'
| ID |
442234 |
| 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 |
043301-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R5655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16507333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 361
(F361I)
|
| 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: F361I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: F361I
| 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: F361I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: F361I
| 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: F361I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: F361I
| 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: F361I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: F361I
| 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: F361I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: F361I
| 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: F361I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: F361I
| 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: F361I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: F361I
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,796,746 (GRCm39) |
I99F |
probably benign |
Het |
| Acan |
G |
A |
7: 78,749,791 (GRCm39) |
D1521N |
possibly damaging |
Het |
| Acap3 |
C |
T |
4: 155,981,076 (GRCm39) |
T53I |
probably benign |
Het |
| Actr3b |
G |
T |
5: 26,053,366 (GRCm39) |
V232F |
probably damaging |
Het |
| Adgrl1 |
G |
A |
8: 84,665,230 (GRCm39) |
V1311M |
possibly damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,343,372 (GRCm39) |
|
probably null |
Het |
| Asns |
A |
C |
6: 7,685,309 (GRCm39) |
M116R |
probably benign |
Het |
| Asprv1 |
A |
T |
6: 86,605,464 (GRCm39) |
E103D |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,885,489 (GRCm39) |
I232T |
probably damaging |
Het |
| B020004C17Rik |
C |
T |
14: 57,252,689 (GRCm39) |
|
probably benign |
Het |
| Bckdha |
A |
G |
7: 25,329,789 (GRCm39) |
Y414H |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,974,387 (GRCm39) |
T2309M |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,626,029 (GRCm39) |
|
probably null |
Het |
| Cog4 |
A |
G |
8: 111,589,939 (GRCm39) |
Y368C |
probably damaging |
Het |
| Cplx3 |
C |
T |
9: 57,523,258 (GRCm39) |
V100M |
probably damaging |
Het |
| Cyp4a12b |
C |
G |
4: 115,290,994 (GRCm39) |
H341D |
probably damaging |
Het |
| Ddx10 |
A |
T |
9: 53,120,987 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,431,424 (GRCm39) |
Y414F |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,595,496 (GRCm39) |
K1445R |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,148,659 (GRCm39) |
D928E |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,644 (GRCm39) |
|
probably null |
Het |
| Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,429,828 (GRCm39) |
N36D |
probably benign |
Het |
| Fmnl3 |
A |
T |
15: 99,219,743 (GRCm39) |
F668L |
probably damaging |
Het |
| Foxl2 |
C |
T |
9: 98,838,048 (GRCm39) |
P112L |
probably damaging |
Het |
| Foxp2 |
T |
G |
6: 15,197,112 (GRCm39) |
H51Q |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,323 (GRCm39) |
T539S |
probably benign |
Het |
| Ftcd |
G |
T |
10: 76,423,937 (GRCm39) |
G493C |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,099 (GRCm39) |
S230G |
probably benign |
Het |
| Gabra1 |
A |
T |
11: 42,073,750 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,637,975 (GRCm39) |
I350L |
probably benign |
Het |
| Idh2 |
A |
C |
7: 79,747,996 (GRCm39) |
C235G |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,264,038 (GRCm39) |
L514F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lamc3 |
C |
A |
2: 31,815,729 (GRCm39) |
R1142S |
probably benign |
Het |
| Lmod2 |
A |
T |
6: 24,603,853 (GRCm39) |
H276L |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,389,381 (GRCm39) |
I2015L |
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,060,444 (GRCm39) |
E764G |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,838,326 (GRCm39) |
M749I |
probably benign |
Het |
| Msh2 |
C |
T |
17: 88,026,871 (GRCm39) |
A789V |
possibly damaging |
Het |
| Ndufa2 |
T |
C |
18: 36,877,519 (GRCm39) |
I19V |
probably benign |
Het |
| Neurod4 |
T |
A |
10: 130,107,002 (GRCm39) |
K91* |
probably null |
Het |
| Nos1 |
G |
T |
5: 118,061,322 (GRCm39) |
G883C |
probably damaging |
Het |
| Npdc1 |
A |
T |
2: 25,297,692 (GRCm39) |
H121L |
possibly damaging |
Het |
| Or2ak5 |
G |
A |
11: 58,611,077 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or3a10 |
A |
C |
11: 73,935,160 (GRCm39) |
Y313* |
probably null |
Het |
| Orc1 |
A |
G |
4: 108,450,636 (GRCm39) |
I123V |
probably benign |
Het |
| P2ry13 |
C |
T |
3: 59,117,260 (GRCm39) |
V173M |
possibly damaging |
Het |
| Pigk |
T |
A |
3: 152,445,858 (GRCm39) |
N156K |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,286,680 (GRCm39) |
F569Y |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,063,889 (GRCm39) |
|
probably null |
Het |
| Plk3 |
A |
G |
4: 116,988,677 (GRCm39) |
L324P |
probably damaging |
Het |
| Pom121 |
A |
G |
5: 135,421,171 (GRCm39) |
S260P |
unknown |
Het |
| Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
| Prrt2 |
G |
A |
7: 126,618,574 (GRCm39) |
A297V |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,192,857 (GRCm39) |
V308E |
probably damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,517,806 (GRCm39) |
I139V |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 22,999,772 (GRCm39) |
M621L |
probably benign |
Het |
| Rab6a |
G |
A |
7: 100,257,501 (GRCm39) |
|
probably null |
Het |
| Ranbp1 |
C |
T |
16: 18,059,669 (GRCm39) |
D127N |
probably damaging |
Het |
| Rnpepl1 |
G |
T |
1: 92,847,032 (GRCm39) |
R272L |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,859 (GRCm39) |
L314P |
probably damaging |
Het |
| Slc6a5 |
A |
T |
7: 49,606,218 (GRCm39) |
M709L |
probably benign |
Het |
| Smarcc1 |
A |
T |
9: 109,986,412 (GRCm39) |
S238C |
probably null |
Het |
| Snx29 |
C |
T |
16: 11,573,185 (GRCm39) |
L476F |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,194,618 (GRCm39) |
|
probably null |
Het |
| St6galnac2 |
T |
C |
11: 116,575,972 (GRCm39) |
N160D |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,556,671 (GRCm39) |
|
probably null |
Het |
| Trpc4ap |
G |
A |
2: 155,495,547 (GRCm39) |
T306I |
possibly damaging |
Het |
| Ubr5 |
T |
G |
15: 38,015,337 (GRCm39) |
Y891S |
probably damaging |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,298 (GRCm39) |
F133L |
probably benign |
Het |
| Vmn1r56 |
T |
A |
7: 5,198,700 (GRCm39) |
I306F |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,315 (GRCm39) |
V193A |
probably benign |
Het |
| Yipf1 |
T |
A |
4: 107,202,354 (GRCm39) |
V239E |
probably damaging |
Het |
| Zfp7 |
G |
T |
15: 76,775,629 (GRCm39) |
C557F |
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 |
|
R1673:Cacna2d1
|
UTSW |
5 |
16,504,988 (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 |
|
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'- GGTAGCTAAGTAATAAAGGCTACCC -3'
(R):5'- AGGAGACATCGCTCACACTC -3'
Sequencing Primer
(F):5'- TACCCCTTGCCTGATCATCAAAC -3'
(R):5'- GGAGACATCGCTCACACTCTTATTTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation