Incidental Mutation 'R1573:Cacna2d1'
| ID |
170954 |
| 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 |
039612-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R1573 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16575625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1077
(F1077L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039370]
[ENSMUST00000078272]
[ENSMUST00000101581]
[ENSMUST00000115281]
[ENSMUST00000167946]
[ENSMUST00000180204]
[ENSMUST00000199704]
|
| AlphaFold |
O08532 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039370
AA Change: F1089L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: F1089L
| 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 benign
Transcript: ENSMUST00000078272
AA Change: F1070L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: F1070L
| 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: F1077L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: F1077L
| 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 benign
Transcript: ENSMUST00000115281
AA Change: F1072L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: F1072L
| 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 benign
Transcript: ENSMUST00000167946
AA Change: F1077L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: F1077L
| 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 benign
Transcript: ENSMUST00000180204
AA Change: F1072L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: F1072L
| 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 benign
Transcript: ENSMUST00000199704
AA Change: F1065L
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: F1065L
| 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 |
0.0724 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.1%
|
| Validation Efficiency |
98% (90/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,004,445 (GRCm39) |
|
probably benign |
Het |
| Add1 |
C |
G |
5: 34,758,740 (GRCm39) |
A18G |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,910,113 (GRCm39) |
K198E |
possibly damaging |
Het |
| Angptl1 |
T |
A |
1: 156,684,740 (GRCm39) |
L303Q |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,348,186 (GRCm39) |
I635L |
probably benign |
Het |
| Atp5mk |
T |
A |
19: 47,074,634 (GRCm39) |
Q9L |
possibly damaging |
Het |
| Atp8a2 |
G |
T |
14: 60,097,655 (GRCm39) |
T791K |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,469,325 (GRCm39) |
K664R |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,685 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
C |
A |
15: 80,277,869 (GRCm39) |
|
probably null |
Het |
| Camkk1 |
C |
T |
11: 72,918,307 (GRCm39) |
R52C |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,403,958 (GRCm39) |
V60E |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cbr2 |
A |
T |
11: 120,622,791 (GRCm39) |
L3Q |
possibly damaging |
Het |
| Ccar1 |
A |
T |
10: 62,586,434 (GRCm39) |
D920E |
unknown |
Het |
| Cdc20b |
A |
G |
13: 113,192,478 (GRCm39) |
N57S |
probably benign |
Het |
| Cep83 |
G |
A |
10: 94,624,525 (GRCm39) |
E601K |
probably damaging |
Het |
| Cldn10 |
A |
T |
14: 119,111,080 (GRCm39) |
I176L |
probably benign |
Het |
| Cpeb2 |
T |
C |
5: 43,441,273 (GRCm39) |
|
probably benign |
Het |
| Crb1 |
A |
G |
1: 139,265,344 (GRCm39) |
S25P |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,039,684 (GRCm39) |
Y319F |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,240,312 (GRCm39) |
S1561F |
probably damaging |
Het |
| Dxo |
C |
T |
17: 35,057,270 (GRCm39) |
R221C |
probably damaging |
Het |
| Dynlt4 |
A |
T |
4: 116,985,191 (GRCm39) |
T5S |
probably benign |
Het |
| Epc2 |
A |
G |
2: 49,439,984 (GRCm39) |
T801A |
possibly damaging |
Het |
| Fndc3a |
C |
A |
14: 72,806,384 (GRCm39) |
C373F |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,283,932 (GRCm39) |
S918P |
probably benign |
Het |
| Fuca2 |
A |
G |
10: 13,381,587 (GRCm39) |
T84A |
possibly damaging |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,979,051 (GRCm39) |
N21K |
probably benign |
Het |
| Htt |
T |
C |
5: 35,021,718 (GRCm39) |
|
probably benign |
Het |
| Igsf1 |
T |
C |
X: 48,880,863 (GRCm39) |
R251G |
possibly damaging |
Het |
| Itih4 |
A |
T |
14: 30,619,504 (GRCm39) |
H720L |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,663,073 (GRCm39) |
L705* |
probably null |
Het |
| Krt34 |
A |
T |
11: 99,931,854 (GRCm39) |
S122T |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,517 (GRCm39) |
T571A |
probably benign |
Het |
| Lag3 |
T |
C |
6: 124,886,210 (GRCm39) |
T248A |
possibly damaging |
Het |
| Lgi1 |
T |
A |
19: 38,272,629 (GRCm39) |
H133Q |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,134,607 (GRCm39) |
T1808S |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,424,752 (GRCm39) |
T613A |
probably damaging |
Het |
| Meaf6 |
A |
G |
4: 124,983,931 (GRCm39) |
I111V |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,296,845 (GRCm39) |
P2730S |
possibly damaging |
Het |
| Mlc1 |
A |
C |
15: 88,842,350 (GRCm39) |
C337G |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,482 (GRCm39) |
Y572N |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,070,967 (GRCm39) |
N172S |
possibly damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,196 (GRCm39) |
M72K |
probably benign |
Het |
| Or4b1 |
A |
T |
2: 89,979,068 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,928,064 (GRCm39) |
D69V |
probably damaging |
Het |
| Or5ak4 |
A |
T |
2: 85,161,687 (GRCm39) |
L185H |
probably damaging |
Het |
| Or6c6c |
T |
C |
10: 129,541,487 (GRCm39) |
S247P |
probably damaging |
Het |
| Padi4 |
T |
G |
4: 140,484,881 (GRCm39) |
T327P |
possibly damaging |
Het |
| Pga5 |
T |
A |
19: 10,651,201 (GRCm39) |
I151F |
probably benign |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Prokr2 |
T |
A |
2: 132,215,684 (GRCm39) |
Q259L |
probably damaging |
Het |
| Ptbp2 |
C |
A |
3: 119,546,754 (GRCm39) |
D43Y |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ralgps2 |
C |
T |
1: 156,660,500 (GRCm39) |
R237Q |
possibly damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,671,624 (GRCm39) |
|
probably null |
Het |
| Saa2 |
T |
A |
7: 46,401,716 (GRCm39) |
M1K |
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,426 (GRCm39) |
I612V |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,442,692 (GRCm39) |
V1518I |
probably benign |
Het |
| Serpina6 |
T |
C |
12: 103,618,012 (GRCm39) |
D267G |
probably damaging |
Het |
| Sh2d4b |
A |
G |
14: 40,564,329 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,718,034 (GRCm39) |
V505A |
probably benign |
Het |
| Smad2 |
A |
G |
18: 76,395,657 (GRCm39) |
E32G |
possibly damaging |
Het |
| Smn1 |
T |
G |
13: 100,263,118 (GRCm39) |
D32E |
probably damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,883 (GRCm39) |
S142P |
possibly damaging |
Het |
| Stk39 |
A |
T |
2: 68,221,293 (GRCm39) |
I210N |
probably damaging |
Het |
| Tcte2 |
A |
G |
17: 13,937,899 (GRCm39) |
|
probably benign |
Het |
| Tctn3 |
C |
A |
19: 40,597,361 (GRCm39) |
E230* |
probably null |
Het |
| Tenm2 |
A |
T |
11: 35,937,896 (GRCm39) |
H1592Q |
probably damaging |
Het |
| Tescl |
A |
G |
7: 24,032,668 (GRCm39) |
V219A |
probably damaging |
Het |
| Tgm6 |
C |
T |
2: 129,993,660 (GRCm39) |
S633L |
probably benign |
Het |
| Tmcc1 |
C |
T |
6: 116,110,924 (GRCm39) |
S123N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ulk2 |
G |
A |
11: 61,670,581 (GRCm39) |
R992C |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,332,184 (GRCm39) |
H278Y |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,275,121 (GRCm39) |
R373W |
probably damaging |
Het |
| Zfp24 |
A |
T |
18: 24,150,399 (GRCm39) |
D170E |
possibly damaging |
Het |
| Zfp808 |
T |
C |
13: 62,319,311 (GRCm39) |
I180T |
possibly damaging |
Het |
| Zfp820 |
T |
A |
17: 22,037,737 (GRCm39) |
Q530H |
probably benign |
Het |
| Zfp975 |
A |
T |
7: 42,311,507 (GRCm39) |
Y369N |
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 |
|
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'- TGTCACAGTGCATAAGCCTGACATC -3'
(R):5'- CCCAGCTAAAGTTCTGTGTCGCTTC -3'
Sequencing Primer
(F):5'- CAAACATTTGCCAGATGGTGC -3'
(R):5'- AAAGTTCTGTGTCGCTTCTTCAAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation