Incidental Mutation 'R0483:Cacna2d1'
| ID |
42105 |
| 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 |
038683-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R0483 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 16564025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 884
(V884M)
|
| 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: V903M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: V903M
| 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: V884M
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: V884M
| 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: V891M
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: V891M
| 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: V886M
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: V886M
| 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: V891M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: V891M
| 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: V886M
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: V886M
| 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: V879M
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: V879M
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
99% (89/90) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
G |
A |
10: 83,595,502 (GRCm39) |
|
probably benign |
Het |
| 1700048O20Rik |
A |
T |
9: 121,769,769 (GRCm39) |
|
noncoding transcript |
Het |
| AA986860 |
A |
G |
1: 130,671,562 (GRCm39) |
R595G |
probably damaging |
Het |
| Acrbp |
C |
A |
6: 125,031,759 (GRCm39) |
F353L |
possibly damaging |
Het |
| Adamts20 |
T |
A |
15: 94,251,452 (GRCm39) |
Q445L |
probably benign |
Het |
| Adgrg5 |
A |
G |
8: 95,660,136 (GRCm39) |
D26G |
possibly damaging |
Het |
| Atad2b |
A |
T |
12: 4,995,035 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
G |
T |
19: 6,306,631 (GRCm39) |
G1439C |
probably damaging |
Het |
| Atg2a |
G |
T |
19: 6,306,632 (GRCm39) |
G1439V |
probably benign |
Het |
| B3galt1 |
G |
A |
2: 67,948,932 (GRCm39) |
V216I |
probably benign |
Het |
| Bmerb1 |
T |
C |
16: 13,913,803 (GRCm39) |
*113R |
probably null |
Het |
| C2cd2 |
A |
G |
16: 97,660,788 (GRCm39) |
|
probably benign |
Het |
| Cers5 |
C |
A |
15: 99,643,795 (GRCm39) |
C22F |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,924,307 (GRCm39) |
C14F |
probably benign |
Het |
| Cntn3 |
G |
T |
6: 102,180,927 (GRCm39) |
P756Q |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,286,423 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,693,777 (GRCm39) |
|
probably null |
Het |
| Cox5b |
G |
A |
1: 36,731,636 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
C |
A |
13: 104,947,724 (GRCm39) |
|
probably null |
Het |
| Cyp27b1 |
A |
C |
10: 126,886,026 (GRCm39) |
M260L |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,735,310 (GRCm39) |
N465K |
probably benign |
Het |
| Depdc1b |
T |
C |
13: 108,510,382 (GRCm39) |
V298A |
probably benign |
Het |
| Dnaaf1 |
A |
G |
8: 120,317,405 (GRCm39) |
I311M |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,937,950 (GRCm39) |
N3372S |
probably benign |
Het |
| Dus4l |
G |
A |
12: 31,691,656 (GRCm39) |
T184I |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,768,076 (GRCm39) |
K453E |
possibly damaging |
Het |
| Fhod3 |
C |
T |
18: 24,842,673 (GRCm39) |
T3M |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,672,048 (GRCm39) |
L446P |
probably damaging |
Het |
| Gfod1 |
T |
A |
13: 43,354,012 (GRCm39) |
D321V |
possibly damaging |
Het |
| Glt8d2 |
C |
A |
10: 82,497,987 (GRCm39) |
|
probably benign |
Het |
| Gm11115 |
A |
G |
5: 88,301,948 (GRCm39) |
M4T |
unknown |
Het |
| Gm11568 |
G |
A |
11: 99,749,209 (GRCm39) |
C138Y |
unknown |
Het |
| Gm57859 |
C |
T |
11: 113,580,021 (GRCm39) |
T472I |
possibly damaging |
Het |
| Gm9742 |
A |
G |
13: 8,085,052 (GRCm39) |
|
noncoding transcript |
Het |
| Gnrhr |
G |
T |
5: 86,345,434 (GRCm39) |
T84N |
probably damaging |
Het |
| Gpr176 |
C |
A |
2: 118,110,204 (GRCm39) |
G352W |
probably damaging |
Het |
| Habp2 |
T |
C |
19: 56,304,864 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Inpp5j |
C |
G |
11: 3,449,738 (GRCm39) |
W681C |
probably damaging |
Het |
| Insl6 |
A |
G |
19: 29,298,968 (GRCm39) |
M148T |
probably benign |
Het |
| Itgb1 |
T |
G |
8: 129,452,648 (GRCm39) |
M771R |
possibly damaging |
Het |
| Kank1 |
G |
T |
19: 25,403,357 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,366,942 (GRCm39) |
Y271H |
probably damaging |
Het |
| Kcnq4 |
C |
A |
4: 120,573,798 (GRCm39) |
R221L |
probably damaging |
Het |
| Klk1b26 |
G |
A |
7: 43,665,772 (GRCm39) |
V195I |
probably benign |
Het |
| Lactb |
A |
C |
9: 66,878,145 (GRCm39) |
V228G |
possibly damaging |
Het |
| Ldb3 |
T |
C |
14: 34,258,541 (GRCm39) |
D649G |
probably damaging |
Het |
| Lilra6 |
T |
A |
7: 3,916,138 (GRCm39) |
R240S |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,338,145 (GRCm39) |
Y1212H |
probably damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,216,321 (GRCm39) |
|
probably null |
Het |
| Mctp1 |
C |
T |
13: 76,975,846 (GRCm39) |
L483F |
probably damaging |
Het |
| Mmp16 |
T |
C |
4: 18,115,878 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,445,033 (GRCm39) |
L360* |
probably null |
Het |
| Myh4 |
A |
G |
11: 67,143,123 (GRCm39) |
E1017G |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 49,879,928 (GRCm39) |
M307L |
probably benign |
Het |
| Or10al3 |
C |
T |
17: 38,012,188 (GRCm39) |
A209V |
probably benign |
Het |
| Or10d1 |
A |
C |
9: 39,484,139 (GRCm39) |
C139G |
probably damaging |
Het |
| Or5m11 |
A |
G |
2: 85,781,587 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8k35 |
A |
G |
2: 86,424,752 (GRCm39) |
V140A |
probably benign |
Het |
| Phc2 |
A |
G |
4: 128,617,100 (GRCm39) |
|
probably benign |
Het |
| Pp2d1 |
C |
A |
17: 53,814,999 (GRCm39) |
C575F |
probably benign |
Het |
| Ptpra |
T |
A |
2: 130,381,605 (GRCm39) |
N364K |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,550,995 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
A |
G |
1: 22,507,263 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,427,442 (GRCm39) |
|
probably benign |
Het |
| Sit1 |
T |
A |
4: 43,482,991 (GRCm39) |
Q86L |
possibly damaging |
Het |
| Skint4 |
C |
A |
4: 111,975,136 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
G |
T |
4: 111,796,020 (GRCm39) |
|
probably benign |
Het |
| Smim13 |
T |
C |
13: 41,426,186 (GRCm39) |
I74T |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
| Spmap2l |
A |
G |
5: 77,185,204 (GRCm39) |
|
probably benign |
Het |
| Srpra |
A |
G |
9: 35,127,291 (GRCm39) |
T614A |
possibly damaging |
Het |
| Synpo2 |
T |
C |
3: 122,907,981 (GRCm39) |
D445G |
probably damaging |
Het |
| Tas2r102 |
A |
T |
6: 132,739,328 (GRCm39) |
I79F |
probably damaging |
Het |
| Tmc4 |
A |
G |
7: 3,670,609 (GRCm39) |
L494P |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,053,805 (GRCm39) |
V1412F |
probably damaging |
Het |
| Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
| Trappc8 |
T |
A |
18: 20,978,658 (GRCm39) |
I813F |
possibly damaging |
Het |
| Trim26 |
T |
C |
17: 37,163,598 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,097,557 (GRCm39) |
D1171G |
probably damaging |
Het |
| Usp7 |
A |
G |
16: 8,517,126 (GRCm39) |
V245A |
probably damaging |
Het |
| Vmn1r38 |
T |
A |
6: 66,753,979 (GRCm39) |
T46S |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
| Zcchc14 |
T |
A |
8: 122,355,388 (GRCm39) |
|
probably benign |
Het |
| Zfp451 |
T |
A |
1: 33,809,991 (GRCm39) |
|
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 |
|
|
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 |
|
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'- CTTGAACATTGGCAGAGGCAGGT -3'
(R):5'- ACTCTTGACTTACCAGGCGGCA -3'
Sequencing Primer
(F):5'- GCAGGTTGTCATTTGCTTATATTTAC -3'
(R):5'- GGCCCACCAGCCAATCTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation