Incidental Mutation 'R1966:Cacna2d1'
ID |
218939 |
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 |
039979-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.346)
|
Stock # |
R1966 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 16538783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 581
(R581*)
|
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 null
Transcript: ENSMUST00000039370
AA Change: R605*
|
SMART Domains |
Protein: ENSMUSP00000049457 Gene: ENSMUSG00000040118 AA Change: R605*
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 null
Transcript: ENSMUST00000078272
AA Change: R586*
|
SMART Domains |
Protein: ENSMUSP00000077391 Gene: ENSMUSG00000040118 AA Change: R586*
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 null
Transcript: ENSMUST00000101581
AA Change: R586*
|
SMART Domains |
Protein: ENSMUSP00000099117 Gene: ENSMUSG00000040118 AA Change: R586*
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 null
Transcript: ENSMUST00000115281
AA Change: R581*
|
SMART Domains |
Protein: ENSMUSP00000110936 Gene: ENSMUSG00000040118 AA Change: R581*
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 null
Transcript: ENSMUST00000167946
AA Change: R586*
|
SMART Domains |
Protein: ENSMUSP00000131507 Gene: ENSMUSG00000040118 AA Change: R586*
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 null
Transcript: ENSMUST00000180204
AA Change: R581*
|
SMART Domains |
Protein: ENSMUSP00000136260 Gene: ENSMUSG00000040118 AA Change: R581*
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 null
Transcript: ENSMUST00000199704
AA Change: R581*
|
SMART Domains |
Protein: ENSMUSP00000142881 Gene: ENSMUSG00000040118 AA Change: R581*
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200294
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200158
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 100 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
T |
A |
7: 43,900,650 (GRCm39) |
V185E |
probably benign |
Het |
Abca1 |
A |
C |
4: 53,050,409 (GRCm39) |
V1608G |
probably damaging |
Het |
Ap2b1 |
T |
C |
11: 83,237,721 (GRCm39) |
I557T |
probably benign |
Het |
Arhgef15 |
G |
T |
11: 68,845,501 (GRCm39) |
P117Q |
probably damaging |
Het |
Arhgef39 |
T |
C |
4: 43,496,710 (GRCm39) |
S335G |
probably benign |
Het |
Blm |
A |
T |
7: 80,162,934 (GRCm39) |
F139Y |
possibly damaging |
Het |
Cadps |
C |
A |
14: 12,822,450 (GRCm38) |
E97* |
probably null |
Het |
Cavin2 |
T |
A |
1: 51,328,801 (GRCm39) |
L86Q |
probably damaging |
Het |
Ccdc136 |
A |
G |
6: 29,418,091 (GRCm39) |
E787G |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,159,361 (GRCm39) |
Y2138C |
probably damaging |
Het |
Cdk12 |
T |
A |
11: 98,094,916 (GRCm39) |
Y241* |
probably null |
Het |
Clcn4 |
T |
A |
7: 7,287,184 (GRCm39) |
*688L |
probably null |
Het |
Cntnap1 |
T |
C |
11: 101,071,212 (GRCm39) |
V375A |
possibly damaging |
Het |
Coq5 |
T |
A |
5: 115,432,890 (GRCm39) |
|
probably null |
Het |
Cyp4b1 |
A |
G |
4: 115,483,076 (GRCm39) |
I405T |
probably benign |
Het |
Det1 |
T |
C |
7: 78,492,966 (GRCm39) |
Y346C |
probably damaging |
Het |
Enpp3 |
A |
T |
10: 24,683,389 (GRCm39) |
V276E |
probably damaging |
Het |
Epb41l2 |
G |
A |
10: 25,317,666 (GRCm39) |
R61Q |
probably benign |
Het |
Fam76b |
G |
A |
9: 13,739,362 (GRCm39) |
|
probably null |
Het |
Fbxo45 |
A |
T |
16: 32,052,048 (GRCm39) |
D238E |
probably benign |
Het |
Fnip2 |
G |
A |
3: 79,400,779 (GRCm39) |
T314I |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,823,124 (GRCm39) |
S6286P |
possibly damaging |
Het |
Gbf1 |
T |
C |
19: 46,260,003 (GRCm39) |
F999L |
probably damaging |
Het |
Gnao1 |
C |
A |
8: 94,670,827 (GRCm39) |
T102K |
probably benign |
Het |
Gpatch2 |
T |
A |
1: 187,054,498 (GRCm39) |
D76E |
probably damaging |
Het |
Gpd1l |
A |
G |
9: 114,743,462 (GRCm39) |
I146T |
probably benign |
Het |
Grik2 |
A |
T |
10: 49,232,005 (GRCm39) |
H508Q |
probably damaging |
Het |
Hapstr1 |
A |
G |
16: 8,648,445 (GRCm39) |
E41G |
possibly damaging |
Het |
Hk3 |
A |
T |
13: 55,162,268 (GRCm39) |
F112Y |
probably damaging |
Het |
Hmcn2 |
T |
G |
2: 31,279,341 (GRCm39) |
I1781S |
probably damaging |
Het |
Inhba |
A |
T |
13: 16,201,221 (GRCm39) |
K261M |
probably damaging |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
Kcnj3 |
A |
T |
2: 55,327,343 (GRCm39) |
Q44L |
probably damaging |
Het |
Kcns1 |
G |
T |
2: 164,010,455 (GRCm39) |
F101L |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,541,611 (GRCm39) |
|
probably null |
Het |
Klhl14 |
C |
T |
18: 21,687,730 (GRCm39) |
G564D |
probably damaging |
Het |
Klhl18 |
A |
T |
9: 110,305,658 (GRCm39) |
V2E |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,801,572 (GRCm39) |
E61G |
probably damaging |
Het |
Krt1 |
T |
C |
15: 101,757,427 (GRCm39) |
D261G |
probably benign |
Het |
Lama5 |
C |
A |
2: 179,830,145 (GRCm39) |
C1896F |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,513,175 (GRCm39) |
|
probably null |
Het |
Lrch3 |
A |
G |
16: 32,734,755 (GRCm39) |
T82A |
possibly damaging |
Het |
Maml3 |
C |
G |
3: 52,011,560 (GRCm39) |
G2A |
unknown |
Het |
Mapkap1 |
T |
A |
2: 34,408,691 (GRCm39) |
N34K |
probably damaging |
Het |
Muc13 |
A |
T |
16: 33,634,909 (GRCm39) |
I488F |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,357,113 (GRCm39) |
D1129G |
possibly damaging |
Het |
Nacc1 |
A |
T |
8: 85,403,010 (GRCm39) |
N288K |
probably damaging |
Het |
Nek1 |
T |
G |
8: 61,469,330 (GRCm39) |
I129R |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,302,390 (GRCm39) |
S319R |
possibly damaging |
Het |
Nle1 |
C |
T |
11: 82,792,614 (GRCm39) |
G432D |
probably damaging |
Het |
Nol4l |
A |
G |
2: 153,371,375 (GRCm39) |
V103A |
probably benign |
Het |
Oca2 |
A |
G |
7: 56,064,215 (GRCm39) |
I737V |
probably damaging |
Het |
Or12k5 |
A |
T |
2: 36,894,960 (GRCm39) |
F222Y |
possibly damaging |
Het |
Or1j17 |
G |
A |
2: 36,578,796 (GRCm39) |
V261I |
probably benign |
Het |
Or4b1 |
T |
C |
2: 89,979,748 (GRCm39) |
S201G |
probably damaging |
Het |
Or51l4 |
G |
T |
7: 103,404,375 (GRCm39) |
T139K |
probably damaging |
Het |
Or52ac1 |
A |
G |
7: 104,246,008 (GRCm39) |
C127R |
probably damaging |
Het |
Or6k6 |
G |
T |
1: 173,944,817 (GRCm39) |
S255* |
probably null |
Het |
Or6s1 |
T |
A |
14: 51,308,614 (GRCm39) |
I79F |
probably damaging |
Het |
Orc1 |
T |
A |
4: 108,469,414 (GRCm39) |
I746N |
probably damaging |
Het |
Pbxip1 |
A |
G |
3: 89,352,795 (GRCm39) |
D147G |
probably damaging |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plin5 |
T |
A |
17: 56,419,186 (GRCm39) |
D412V |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,327,008 (GRCm39) |
Y314F |
possibly damaging |
Het |
Ppid |
A |
T |
3: 79,509,606 (GRCm39) |
K308* |
probably null |
Het |
Prss38 |
T |
C |
11: 59,264,310 (GRCm39) |
Y219C |
probably damaging |
Het |
Ptx3 |
C |
T |
3: 66,132,042 (GRCm39) |
R188C |
probably damaging |
Het |
Ralgds |
T |
A |
2: 28,435,887 (GRCm39) |
V504E |
probably damaging |
Het |
Rere |
T |
C |
4: 150,701,330 (GRCm39) |
Y1237H |
probably damaging |
Het |
Rpp30 |
C |
T |
19: 36,066,549 (GRCm39) |
S94L |
probably damaging |
Het |
Rrp15 |
C |
T |
1: 186,468,402 (GRCm39) |
V205I |
possibly damaging |
Het |
Scpep1 |
A |
G |
11: 88,843,240 (GRCm39) |
W73R |
probably damaging |
Het |
Sec23ip |
A |
G |
7: 128,357,077 (GRCm39) |
H376R |
probably damaging |
Het |
Serping1 |
G |
T |
2: 84,596,072 (GRCm39) |
T454K |
probably damaging |
Het |
Shtn1 |
T |
G |
19: 58,963,470 (GRCm39) |
Y615S |
probably benign |
Het |
Slc20a2 |
C |
A |
8: 23,035,553 (GRCm39) |
P184T |
probably damaging |
Het |
Slc22a29 |
C |
A |
19: 8,195,772 (GRCm39) |
R89L |
probably damaging |
Het |
Slc2a2 |
A |
G |
3: 28,773,634 (GRCm39) |
Q313R |
probably damaging |
Het |
Tas2r122 |
A |
T |
6: 132,688,157 (GRCm39) |
Y245* |
probably null |
Het |
Ticrr |
C |
A |
7: 79,344,483 (GRCm39) |
C1449* |
probably null |
Het |
Tmem181a |
T |
C |
17: 6,353,501 (GRCm39) |
V412A |
probably benign |
Het |
Tmtc4 |
T |
A |
14: 123,165,011 (GRCm39) |
E616V |
probably benign |
Het |
Tnrc6b |
A |
G |
15: 80,764,640 (GRCm39) |
K714R |
probably damaging |
Het |
Trpm8 |
T |
A |
1: 88,260,470 (GRCm39) |
|
probably null |
Het |
Ubr2 |
T |
C |
17: 47,265,845 (GRCm39) |
T1163A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,178,555 (GRCm39) |
|
probably null |
Het |
Ulk2 |
A |
T |
11: 61,710,297 (GRCm39) |
|
probably null |
Het |
Ulk4 |
T |
A |
9: 121,086,182 (GRCm39) |
M350L |
probably benign |
Het |
Vmn1r185 |
T |
C |
7: 26,310,956 (GRCm39) |
E183G |
probably benign |
Het |
Vmn1r76 |
T |
A |
7: 11,664,441 (GRCm39) |
I223F |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,154,861 (GRCm39) |
T19A |
possibly damaging |
Het |
Wdr59 |
T |
G |
8: 112,177,535 (GRCm39) |
T973P |
possibly damaging |
Het |
Wnk2 |
A |
G |
13: 49,192,487 (GRCm39) |
S664P |
probably damaging |
Het |
Zfp1004 |
T |
A |
2: 150,033,827 (GRCm39) |
D49E |
probably benign |
Het |
Zfp120 |
A |
T |
2: 149,959,318 (GRCm39) |
C335S |
probably damaging |
Het |
Zfp30 |
C |
A |
7: 29,491,877 (GRCm39) |
Q44K |
probably benign |
Het |
Zfp541 |
T |
C |
7: 15,812,996 (GRCm39) |
S550P |
probably benign |
Het |
Zw10 |
C |
A |
9: 48,980,133 (GRCm39) |
N421K |
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 |
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'- GCCATCATTCTTAAACATGCTCTAC -3'
(R):5'- AATTCATTTCTCTGTTGCAGGG -3'
Sequencing Primer
(F):5'- TTGAGTACTTAGTTCTGTTCCAAAC -3'
(R):5'- GCAGGGAGTCATTTTTCCATTG -3'
|
Posted On |
2014-08-25 |