Incidental Mutation 'R8682:Cacna2d1'
ID |
661795 |
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 |
068537-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.302)
|
Stock # |
R8682 (G1)
|
Quality Score |
218.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 16558837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 732
(R732S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049457
(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: R732S
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000049457 Gene: ENSMUSG00000040118 AA Change: R732S
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: R713S
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000077391 Gene: ENSMUSG00000040118 AA Change: R713S
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: R720S
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099117 Gene: ENSMUSG00000040118 AA Change: R720S
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: R715S
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110936 Gene: ENSMUSG00000040118 AA Change: R715S
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: R720S
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131507 Gene: ENSMUSG00000040118 AA Change: R720S
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: R715S
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000136260 Gene: ENSMUSG00000040118 AA Change: R715S
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: R708S
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142881 Gene: ENSMUSG00000040118 AA Change: R708S
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: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
T |
A |
11: 58,314,725 (GRCm39) |
L141Q |
probably null |
Het |
Abtb2 |
A |
T |
2: 103,397,720 (GRCm39) |
T217S |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,769,005 (GRCm39) |
M172V |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,831,532 (GRCm39) |
V1194D |
probably damaging |
Het |
Arhgap30 |
T |
C |
1: 171,234,970 (GRCm39) |
S479P |
probably benign |
Het |
Asah2 |
C |
T |
19: 32,030,277 (GRCm39) |
V132M |
probably damaging |
Het |
Bmp10 |
A |
G |
6: 87,410,541 (GRCm39) |
|
probably null |
Het |
Bsn |
T |
C |
9: 107,983,368 (GRCm39) |
Y790C |
|
Het |
Casr |
A |
T |
16: 36,315,784 (GRCm39) |
F762Y |
possibly damaging |
Het |
Cbln1 |
T |
C |
8: 88,198,735 (GRCm39) |
D45G |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,459,438 (GRCm39) |
M61K |
possibly damaging |
Het |
Cdh11 |
T |
C |
8: 103,377,348 (GRCm39) |
I433V |
probably benign |
Het |
Cdhr5 |
A |
G |
7: 140,855,899 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
A |
9: 79,568,358 (GRCm39) |
K1622I |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,337,917 (GRCm39) |
D103G |
probably damaging |
Het |
Dync2i1 |
A |
T |
12: 116,188,610 (GRCm39) |
H661Q |
probably damaging |
Het |
Eif4a3l1 |
A |
G |
6: 136,306,027 (GRCm39) |
T163A |
possibly damaging |
Het |
Fem1b |
A |
T |
9: 62,704,432 (GRCm39) |
L276* |
probably null |
Het |
Fggy |
T |
A |
4: 95,700,358 (GRCm39) |
V343E |
probably damaging |
Het |
Flt3 |
A |
G |
5: 147,320,265 (GRCm39) |
V33A |
probably benign |
Het |
Grn |
T |
C |
11: 102,325,646 (GRCm39) |
Y288H |
probably benign |
Het |
Grtp1 |
G |
A |
8: 13,229,499 (GRCm39) |
R272W |
probably damaging |
Het |
H2-Aa |
A |
G |
17: 34,502,734 (GRCm39) |
I144T |
possibly damaging |
Het |
Herc1 |
A |
G |
9: 66,370,130 (GRCm39) |
D469G |
|
Het |
Hsf2 |
G |
A |
10: 57,381,267 (GRCm39) |
E286K |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,035,798 (GRCm39) |
E163G |
probably damaging |
Het |
Il6ra |
A |
G |
3: 89,793,976 (GRCm39) |
I224T |
possibly damaging |
Het |
Itih3 |
T |
A |
14: 30,642,673 (GRCm39) |
I204F |
possibly damaging |
Het |
Kcnj9 |
A |
T |
1: 172,153,680 (GRCm39) |
M148K |
possibly damaging |
Het |
Lepr |
T |
G |
4: 101,649,269 (GRCm39) |
V890G |
probably benign |
Het |
Mslnl |
A |
G |
17: 25,965,962 (GRCm39) |
D612G |
probably benign |
Het |
Myl2 |
T |
A |
5: 122,244,798 (GRCm39) |
V156D |
probably damaging |
Het |
Neb |
C |
A |
2: 52,136,857 (GRCm39) |
W3208L |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,367,295 (GRCm39) |
Y511C |
probably benign |
Het |
Obi1 |
G |
T |
14: 104,717,669 (GRCm39) |
R235S |
probably damaging |
Het |
Obox2 |
C |
A |
7: 15,130,912 (GRCm39) |
T48K |
possibly damaging |
Het |
Or14a259 |
C |
T |
7: 86,013,373 (GRCm39) |
M57I |
probably damaging |
Het |
Or51f2 |
T |
A |
7: 102,526,646 (GRCm39) |
F106L |
probably benign |
Het |
Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
Osbpl6 |
C |
G |
2: 76,407,425 (GRCm39) |
H486D |
probably benign |
Het |
Pfkfb3 |
T |
C |
2: 11,489,144 (GRCm39) |
K264E |
probably benign |
Het |
Phf11 |
G |
A |
14: 59,496,033 (GRCm39) |
T27I |
probably benign |
Het |
Pla2r1 |
T |
A |
2: 60,253,120 (GRCm39) |
T1324S |
possibly damaging |
Het |
Plekhg1 |
A |
T |
10: 3,897,523 (GRCm39) |
Y495F |
|
Het |
Ppp2r5d |
T |
C |
17: 46,997,989 (GRCm39) |
K225E |
probably benign |
Het |
Ptpn11 |
T |
C |
5: 121,306,053 (GRCm39) |
D64G |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,742,849 (GRCm39) |
I431T |
probably damaging |
Het |
Rapgef5 |
T |
C |
12: 117,545,432 (GRCm39) |
S100P |
probably benign |
Het |
Shh |
T |
A |
5: 28,663,058 (GRCm39) |
H370L |
probably benign |
Het |
Siah3 |
A |
T |
14: 75,763,043 (GRCm39) |
H98L |
possibly damaging |
Het |
Sim2 |
C |
T |
16: 93,924,192 (GRCm39) |
H446Y |
probably benign |
Het |
Skint4 |
T |
C |
4: 111,993,237 (GRCm39) |
I320T |
possibly damaging |
Het |
Sorcs1 |
A |
T |
19: 50,367,398 (GRCm39) |
N221K |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,076,191 (GRCm39) |
S816G |
probably damaging |
Het |
Sphkap |
T |
C |
1: 83,256,997 (GRCm39) |
T251A |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,533,796 (GRCm39) |
V3351A |
possibly damaging |
Het |
Tbc1d15 |
A |
G |
10: 115,046,195 (GRCm39) |
V436A |
probably benign |
Het |
Thsd7b |
A |
T |
1: 129,688,011 (GRCm39) |
K641* |
probably null |
Het |
Tmc5 |
G |
T |
7: 118,269,925 (GRCm39) |
V892F |
possibly damaging |
Het |
Tpsab1 |
T |
A |
17: 25,562,685 (GRCm39) |
H238L |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,194,412 (GRCm39) |
N812S |
probably benign |
Het |
Trio |
T |
A |
15: 27,905,278 (GRCm39) |
N163Y |
unknown |
Het |
Ttc39d |
A |
G |
17: 80,524,693 (GRCm39) |
T451A |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,550,351 (GRCm39) |
L832P |
probably damaging |
Het |
Vmn2r15 |
C |
A |
5: 109,441,938 (GRCm39) |
C165F |
probably damaging |
Het |
Vmn2r90 |
T |
C |
17: 17,932,344 (GRCm39) |
F84L |
possibly damaging |
Het |
Wdr95 |
C |
T |
5: 149,518,752 (GRCm39) |
T531I |
possibly damaging |
Het |
Zcrb1 |
C |
A |
15: 93,284,118 (GRCm39) |
G191V |
probably benign |
Het |
Zfp111 |
G |
A |
7: 23,897,983 (GRCm39) |
P544S |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,576,539 (GRCm39) |
S181G |
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 |
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 |
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'- AAGGACAGCCCCATCCTTTC -3'
(R):5'- ACCAGCTGGACTCCATCTAC -3'
Sequencing Primer
(F):5'- AGCCCCATCCTTTCTTCTAAAATGAC -3'
(R):5'- GCTGGACTCCATCTACAAAGTGG -3'
|
Posted On |
2021-03-08 |