Incidental Mutation 'R1753:Cacna2d1'
| ID |
193721 |
| 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 |
039785-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R1753 (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 G
at 16507352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 367
(E367G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039370]
[ENSMUST00000078272]
[ENSMUST00000101581]
[ENSMUST00000115281]
[ENSMUST00000167946]
[ENSMUST00000180204]
[ENSMUST00000199704]
|
| AlphaFold |
O08532 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039370
AA Change: E367G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: E367G
| 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 |
possibly damaging
Transcript: ENSMUST00000078272
AA Change: E367G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: E367G
| 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 |
possibly damaging
Transcript: ENSMUST00000101581
AA Change: E367G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: E367G
| 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: E367G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: E367G
| 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 |
possibly damaging
Transcript: ENSMUST00000167946
AA Change: E367G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: E367G
| 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: E367G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: E367G
| 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 |
possibly damaging
Transcript: ENSMUST00000199704
AA Change: E367G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: E367G
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,864,542 (GRCm39) |
F409I |
probably benign |
Het |
| Adamts19 |
A |
C |
18: 59,140,444 (GRCm39) |
I848L |
possibly damaging |
Het |
| Adamts5 |
T |
C |
16: 85,696,240 (GRCm39) |
S306G |
probably damaging |
Het |
| Adamts8 |
T |
G |
9: 30,865,910 (GRCm39) |
I486S |
probably benign |
Het |
| Adgrg5 |
T |
C |
8: 95,668,680 (GRCm39) |
F499L |
possibly damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,627,134 (GRCm39) |
C145* |
probably null |
Het |
| Anp32b |
T |
G |
4: 46,460,241 (GRCm39) |
|
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,421,974 (GRCm39) |
V1364A |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,133,992 (GRCm39) |
R10G |
possibly damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cd2 |
A |
T |
3: 101,194,815 (GRCm39) |
M91K |
possibly damaging |
Het |
| Cdc16 |
C |
A |
8: 13,814,688 (GRCm39) |
Y157* |
probably null |
Het |
| Celsr3 |
G |
T |
9: 108,709,056 (GRCm39) |
V1301F |
probably damaging |
Het |
| Cep164 |
C |
T |
9: 45,704,235 (GRCm39) |
G961S |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,349,843 (GRCm39) |
V630A |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,463,272 (GRCm39) |
S1451F |
probably damaging |
Het |
| Cldn23 |
A |
C |
8: 36,293,140 (GRCm39) |
L116R |
possibly damaging |
Het |
| Cngb1 |
A |
T |
8: 96,024,401 (GRCm39) |
|
probably benign |
Het |
| Cpb1 |
G |
T |
3: 20,320,405 (GRCm39) |
N151K |
possibly damaging |
Het |
| Cpn2 |
A |
G |
16: 30,078,918 (GRCm39) |
F261S |
probably damaging |
Het |
| Crlf3 |
A |
C |
11: 79,948,698 (GRCm39) |
V249G |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,207,134 (GRCm39) |
Y1298* |
probably null |
Het |
| Cstf2t |
C |
A |
19: 31,061,085 (GRCm39) |
P207Q |
possibly damaging |
Het |
| Cym |
A |
C |
3: 107,120,741 (GRCm39) |
L288R |
possibly damaging |
Het |
| Cyp2j12 |
C |
T |
4: 96,009,669 (GRCm39) |
|
probably null |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,923,342 (GRCm39) |
M181L |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,163,910 (GRCm39) |
M859K |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,350,284 (GRCm39) |
S13T |
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,298,956 (GRCm39) |
V1448A |
probably benign |
Het |
| Esp24 |
A |
G |
17: 39,350,893 (GRCm39) |
E31G |
possibly damaging |
Het |
| F2rl2 |
T |
A |
13: 95,837,969 (GRCm39) |
M338K |
probably benign |
Het |
| Fbxl9 |
A |
T |
8: 106,039,824 (GRCm39) |
V517E |
probably damaging |
Het |
| Fgfbp1 |
A |
C |
5: 44,137,265 (GRCm39) |
L9R |
possibly damaging |
Het |
| Gal3st2b |
A |
T |
1: 93,868,338 (GRCm39) |
N188Y |
probably damaging |
Het |
| Gpr179 |
G |
C |
11: 97,237,404 (GRCm39) |
C372W |
probably damaging |
Het |
| Grn |
T |
G |
11: 102,324,093 (GRCm39) |
C61G |
probably damaging |
Het |
| Herc1 |
T |
G |
9: 66,376,292 (GRCm39) |
C3371G |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,409,366 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
| Ifi35 |
A |
T |
11: 101,347,461 (GRCm39) |
R31W |
probably damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,260 (GRCm39) |
H399L |
probably benign |
Het |
| Irx3 |
G |
A |
8: 92,527,362 (GRCm39) |
P114L |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,425,813 (GRCm39) |
D1119E |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,741,363 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,897,869 (GRCm39) |
H423L |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,326,833 (GRCm39) |
Q1746L |
possibly damaging |
Het |
| Lrrc63 |
A |
T |
14: 75,323,784 (GRCm39) |
|
probably null |
Het |
| Mad2l1 |
T |
A |
6: 66,516,797 (GRCm39) |
V163E |
possibly damaging |
Het |
| Map3k19 |
A |
G |
1: 127,750,417 (GRCm39) |
M978T |
probably benign |
Het |
| Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,686,707 (GRCm39) |
N85D |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,183,969 (GRCm39) |
D244G |
probably null |
Het |
| Mstn |
A |
G |
1: 53,105,717 (GRCm39) |
Y353C |
probably damaging |
Het |
| Mx1 |
T |
A |
16: 97,255,358 (GRCm39) |
N232Y |
probably damaging |
Het |
| Mycs |
T |
C |
X: 5,380,157 (GRCm39) |
R308G |
probably benign |
Het |
| Myh11 |
A |
T |
16: 14,095,734 (GRCm39) |
D9E |
probably benign |
Het |
| Nfe2l3 |
A |
T |
6: 51,410,392 (GRCm39) |
Q169L |
probably null |
Het |
| Nr5a1 |
G |
T |
2: 38,598,431 (GRCm39) |
T122N |
possibly damaging |
Het |
| Nras |
A |
G |
3: 102,966,295 (GRCm39) |
T20A |
probably damaging |
Het |
| Obp2b |
T |
A |
2: 25,628,652 (GRCm39) |
|
probably null |
Het |
| Or1l4 |
A |
G |
2: 37,091,439 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or51g2 |
T |
C |
7: 102,622,263 (GRCm39) |
N312S |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
| Or5w18 |
T |
A |
2: 87,633,106 (GRCm39) |
F124L |
probably benign |
Het |
| Or9s14 |
G |
A |
1: 92,536,122 (GRCm39) |
V188M |
probably benign |
Het |
| Pcdh17 |
A |
T |
14: 84,715,094 (GRCm39) |
T920S |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,124,661 (GRCm39) |
D503G |
probably benign |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
| Pde6b |
C |
A |
5: 108,536,557 (GRCm39) |
C84* |
probably null |
Het |
| Pex1 |
A |
T |
5: 3,680,044 (GRCm39) |
N914I |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,517,042 (GRCm39) |
V528A |
possibly damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,173,112 (GRCm39) |
K489E |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
| Radil |
T |
C |
5: 142,481,091 (GRCm39) |
Y572C |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,996,098 (GRCm39) |
I555T |
possibly damaging |
Het |
| Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
| Rnaset2b |
G |
A |
17: 7,248,506 (GRCm39) |
|
probably null |
Het |
| S1pr1 |
A |
G |
3: 115,505,587 (GRCm39) |
S336P |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,925,115 (GRCm39) |
E252G |
possibly damaging |
Het |
| Slc34a2 |
A |
T |
5: 53,218,733 (GRCm39) |
I184F |
probably benign |
Het |
| Slc35a3 |
A |
G |
3: 116,471,597 (GRCm39) |
V224A |
possibly damaging |
Het |
| Slc39a9 |
A |
G |
12: 80,723,976 (GRCm39) |
H211R |
probably damaging |
Het |
| Slu7 |
A |
G |
11: 43,330,095 (GRCm39) |
N174S |
probably benign |
Het |
| Smarcd3 |
A |
T |
5: 24,800,820 (GRCm39) |
Y131* |
probably null |
Het |
| Syne1 |
A |
G |
10: 5,317,621 (GRCm39) |
M491T |
probably benign |
Het |
| Tars1 |
G |
A |
15: 11,394,329 (GRCm39) |
Q103* |
probably null |
Het |
| Tmem132d |
C |
A |
5: 127,866,919 (GRCm39) |
E660D |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,582,605 (GRCm39) |
M22763L |
probably benign |
Het |
| Ubp1 |
A |
T |
9: 113,785,037 (GRCm39) |
I117L |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,234,756 (GRCm39) |
H954Q |
probably benign |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
| Vmn2r63 |
G |
A |
7: 42,577,669 (GRCm39) |
Q290* |
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,718 (GRCm39) |
I341T |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,189,945 (GRCm39) |
T46A |
probably damaging |
Het |
| Wdr48 |
G |
T |
9: 119,753,313 (GRCm39) |
E625* |
probably null |
Het |
| Wdr6 |
C |
T |
9: 108,452,363 (GRCm39) |
V507I |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,737,328 (GRCm39) |
W287R |
probably benign |
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 |
|
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'- GCTACCCCTTGCCTGATCATCAAAC -3'
(R):5'- TGCCCATGAAGTGCTGCAAACC -3'
Sequencing Primer
(F):5'- TTTTAGAACACACTACTGAGCAGAC -3'
(R):5'- TGATTAGGAGACATCGCTCAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation