Incidental Mutation 'R6005:Cacna2d1'
| ID |
479407 |
| 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 |
044425-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R6005 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16566819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 921
(S921P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077391
(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: S940P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: S940P
| 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: S921P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: S921P
| 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: S928P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: S928P
| 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 |
possibly damaging
Transcript: ENSMUST00000115281
AA Change: S923P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: S923P
| 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: S928P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: S928P
| 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 |
possibly damaging
Transcript: ENSMUST00000180204
AA Change: S923P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: S923P
| 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 |
noncoding transcript
Transcript: ENSMUST00000199236
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199704
AA Change: S916P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: S916P
| 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 |
|
| Meta Mutation Damage Score |
0.2666 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
| Validation Efficiency |
99% (79/80) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
A |
T |
15: 85,378,310 (GRCm39) |
I111N |
unknown |
Het |
| Adgb |
C |
T |
10: 10,271,096 (GRCm39) |
R849H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,992,525 (GRCm39) |
V4603A |
possibly damaging |
Het |
| Ank1 |
A |
G |
8: 23,622,218 (GRCm39) |
D1589G |
probably damaging |
Het |
| Ankrd2 |
A |
G |
19: 42,028,554 (GRCm39) |
D70G |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,268,853 (GRCm39) |
S989P |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,953,823 (GRCm39) |
Y113* |
probably null |
Het |
| Bfsp2 |
T |
G |
9: 103,325,749 (GRCm39) |
K298T |
probably damaging |
Het |
| Bpi |
G |
A |
2: 158,104,400 (GRCm39) |
V168I |
possibly damaging |
Het |
| Clec4d |
A |
C |
6: 123,244,118 (GRCm39) |
T76P |
probably damaging |
Het |
| Coq8b |
C |
T |
7: 26,956,750 (GRCm39) |
Q468* |
probably null |
Het |
| Dennd6b |
T |
C |
15: 89,072,371 (GRCm39) |
E248G |
possibly damaging |
Het |
| Ednra |
A |
G |
8: 78,401,556 (GRCm39) |
S245P |
possibly damaging |
Het |
| Epb41l4a |
C |
T |
18: 33,961,196 (GRCm39) |
C446Y |
probably benign |
Het |
| Fam221a |
A |
G |
6: 49,344,756 (GRCm39) |
|
probably benign |
Het |
| Fam229a |
T |
C |
4: 129,385,296 (GRCm39) |
S76P |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,240,638 (GRCm39) |
D1321N |
probably damaging |
Het |
| Gata3os |
T |
C |
2: 9,887,638 (GRCm39) |
|
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,769,794 (GRCm39) |
R586H |
probably damaging |
Het |
| Gm94 |
C |
T |
18: 43,925,862 (GRCm39) |
A16T |
possibly damaging |
Het |
| Gorasp2 |
T |
C |
2: 70,521,095 (GRCm39) |
V355A |
probably benign |
Het |
| Grid1 |
C |
A |
14: 35,045,369 (GRCm39) |
T404N |
probably damaging |
Het |
| Gtf2i |
C |
A |
5: 134,284,812 (GRCm39) |
E475* |
probably null |
Het |
| Gucy1a2 |
T |
C |
9: 3,865,518 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,708,924 (GRCm39) |
I153N |
probably damaging |
Het |
| Il11ra1 |
T |
C |
4: 41,763,887 (GRCm39) |
|
probably null |
Het |
| Ireb2 |
G |
A |
9: 54,816,089 (GRCm39) |
G887S |
probably damaging |
Het |
| Kdsr |
T |
C |
1: 106,662,311 (GRCm39) |
E248G |
probably benign |
Het |
| Lemd2 |
C |
G |
17: 27,409,759 (GRCm39) |
R464P |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,333 (GRCm39) |
V246A |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,368,068 (GRCm39) |
D2231V |
possibly damaging |
Het |
| Map2k5 |
C |
T |
9: 63,188,301 (GRCm39) |
D283N |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,189,927 (GRCm39) |
D433G |
possibly damaging |
Het |
| Mir700 |
C |
A |
4: 135,139,618 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,903,246 (GRCm39) |
F52L |
probably damaging |
Het |
| Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
| Mycbp2 |
A |
C |
14: 103,394,159 (GRCm39) |
S2691A |
probably benign |
Het |
| Myorg |
T |
A |
4: 41,498,895 (GRCm39) |
H245L |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,577,460 (GRCm39) |
|
probably benign |
Het |
| Obsl1 |
C |
A |
1: 75,468,859 (GRCm39) |
|
probably null |
Het |
| Or10ag60 |
A |
T |
2: 87,438,424 (GRCm39) |
I231F |
probably damaging |
Het |
| Or52r1b |
A |
T |
7: 102,690,853 (GRCm39) |
I51F |
probably damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,407 (GRCm39) |
V108A |
probably benign |
Het |
| Or7g35 |
C |
T |
9: 19,496,181 (GRCm39) |
T116I |
probably benign |
Het |
| Or8c11 |
T |
C |
9: 38,289,605 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,652,789 (GRCm39) |
I162N |
possibly damaging |
Het |
| Pde1c |
A |
T |
6: 56,456,187 (GRCm39) |
|
probably null |
Het |
| Pds5b |
A |
G |
5: 150,693,241 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
C |
11: 8,807,113 (GRCm39) |
W1568G |
probably damaging |
Het |
| Polr3c |
A |
T |
3: 96,626,784 (GRCm39) |
M258K |
possibly damaging |
Het |
| Pramel23 |
T |
A |
4: 143,425,002 (GRCm39) |
H147L |
probably benign |
Het |
| Prss12 |
A |
T |
3: 123,276,417 (GRCm39) |
I349F |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,644,811 (GRCm39) |
*1177Q |
probably null |
Het |
| Rgs22 |
T |
A |
15: 36,010,713 (GRCm39) |
K1125M |
probably benign |
Het |
| Rnf182 |
A |
G |
13: 43,821,511 (GRCm39) |
K21E |
probably damaging |
Het |
| Rpl6 |
G |
A |
5: 121,343,577 (GRCm39) |
|
probably benign |
Het |
| Samsn1 |
C |
T |
16: 75,670,402 (GRCm39) |
V234I |
probably benign |
Het |
| Scrib |
A |
G |
15: 75,929,600 (GRCm39) |
I1089T |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,511,737 (GRCm39) |
T1092A |
probably damaging |
Het |
| Sh3bp2 |
G |
T |
5: 34,719,809 (GRCm39) |
R606L |
possibly damaging |
Het |
| Sipa1 |
A |
G |
19: 5,706,229 (GRCm39) |
V367A |
probably damaging |
Het |
| Slc25a44 |
C |
T |
3: 88,320,153 (GRCm39) |
E269K |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,142,430 (GRCm39) |
M353K |
possibly damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,176,728 (GRCm39) |
S1142P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,118,024 (GRCm39) |
F352L |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,766,174 (GRCm39) |
N541K |
probably damaging |
Het |
| Tas2r113 |
G |
A |
6: 132,870,659 (GRCm39) |
R229K |
probably benign |
Het |
| Tcaf3 |
A |
T |
6: 42,566,905 (GRCm39) |
I728K |
probably benign |
Het |
| Tcea1 |
A |
G |
1: 4,960,996 (GRCm39) |
E167G |
probably benign |
Het |
| Timeless |
G |
A |
10: 128,080,069 (GRCm39) |
R406H |
probably damaging |
Het |
| Traf6 |
C |
T |
2: 101,527,029 (GRCm39) |
R260* |
probably null |
Het |
| Traj31 |
C |
T |
14: 54,425,388 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,907 (GRCm39) |
V19089D |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,666,416 (GRCm39) |
S1868L |
possibly damaging |
Het |
| Wdr38 |
A |
T |
2: 38,891,333 (GRCm39) |
I287F |
possibly damaging |
Het |
| Wnt2 |
G |
A |
6: 18,030,322 (GRCm39) |
|
probably benign |
Het |
| Wnt5b |
G |
A |
6: 119,410,615 (GRCm39) |
P288L |
probably benign |
Het |
| Xkr5 |
G |
T |
8: 18,984,521 (GRCm39) |
N174K |
probably benign |
Het |
| Zbtb6 |
C |
T |
2: 37,318,977 (GRCm39) |
R317Q |
probably damaging |
Het |
| Zcchc7 |
AGGGG |
AGGG |
4: 44,931,218 (GRCm39) |
|
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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 |
|
|
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'- TGCTACTGAGAGTCAAAGGTG -3'
(R):5'- AGTTACTGCCTGGCTGTCAC -3'
Sequencing Primer
(F):5'- TGCTACTGAGAGTCAAAGGTGTAAAC -3'
(R):5'- GCCTGGCTGTCACTAAAATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation