Incidental Mutation 'R6625:Cacna2d1'
| ID |
524722 |
| 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 |
044747-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R6625 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16567391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 984
(R984W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039370]
[ENSMUST00000039370]
[ENSMUST00000039370]
[ENSMUST00000078272]
[ENSMUST00000078272]
[ENSMUST00000078272]
[ENSMUST00000101581]
[ENSMUST00000101581]
[ENSMUST00000101581]
[ENSMUST00000115281]
[ENSMUST00000115281]
[ENSMUST00000115281]
[ENSMUST00000167946]
[ENSMUST00000167946]
[ENSMUST00000167946]
[ENSMUST00000180204]
[ENSMUST00000180204]
[ENSMUST00000180204]
[ENSMUST00000199704]
[ENSMUST00000199704]
[ENSMUST00000199704]
|
| AlphaFold |
O08532 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039370
AA Change: R1001W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: R1001W
| 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: ENSMUST00000039370
AA Change: R1001W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: R1001W
| 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: ENSMUST00000039370
AA Change: R1001W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: R1001W
| 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: R982W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: R982W
| 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: ENSMUST00000078272
AA Change: R982W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: R982W
| 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: ENSMUST00000078272
AA Change: R982W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: R982W
| 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: R989W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: R989W
| 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: ENSMUST00000101581
AA Change: R989W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: R989W
| 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: ENSMUST00000101581
AA Change: R989W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: R989W
| 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: R984W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: R984W
| 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: ENSMUST00000115281
AA Change: R984W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: R984W
| 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: ENSMUST00000115281
AA Change: R984W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: R984W
| 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: R989W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: R989W
| 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: ENSMUST00000167946
AA Change: R989W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: R989W
| 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: ENSMUST00000167946
AA Change: R989W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: R989W
| 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: R984W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: R984W
| 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: ENSMUST00000180204
AA Change: R984W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: R984W
| 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: ENSMUST00000180204
AA Change: R984W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: R984W
| 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 null
Transcript: ENSMUST00000199704
AA Change: R977W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: R977W
| 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 |
probably null
Transcript: ENSMUST00000199704
AA Change: R977W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: R977W
| 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 |
probably null
Transcript: ENSMUST00000199704
AA Change: R977W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: R977W
| 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: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
91% (30/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
| Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
| Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
| Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
| Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
| G2e3 |
T |
G |
12: 51,400,572 (GRCm39) |
|
probably null |
Het |
| Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
| Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
| Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
| Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
| Or5a3 |
T |
G |
19: 12,400,205 (GRCm39) |
H177Q |
probably damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,560,492 (GRCm39) |
C180* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,090,369 (GRCm39) |
Y470N |
probably damaging |
Het |
| Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
| Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,459,100 (GRCm39) |
P65L |
probably damaging |
Het |
| Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,372,594 (GRCm39) |
L587Q |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
| Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,656,717 (GRCm39) |
H474R |
probably damaging |
Het |
| Thap12 |
G |
A |
7: 98,365,277 (GRCm39) |
V482I |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
| Zfp493 |
C |
T |
13: 67,934,514 (GRCm39) |
Q156* |
probably null |
Het |
| Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
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 |
|
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 |
|
|
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'- TGAGCAGTGATTCCAGGAAG -3'
(R):5'- GAATCAGAGGCTCCACCATG -3'
Sequencing Primer
(F):5'- CAGTGATTCCAGGAAGCTCTG -3'
(R):5'- AGAGGCTCCACCATGTAACTGTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation