Incidental Mutation 'R9169:Cacna2d1'
| ID |
696245 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R9169 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16451757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 207
(V207A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049457
(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: V207A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: V207A
| 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: V207A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: V207A
| 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: V207A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: V207A
| 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: V207A
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: V207A
| 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: V207A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: V207A
| 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: V207A
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: V207A
| 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: ENSMUST00000199704
AA Change: V207A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: V207A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (92/92) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
T |
7: 41,261,109 (GRCm39) |
|
probably benign |
Het |
| 9330182O14Rik |
A |
T |
15: 40,005,632 (GRCm39) |
K17* |
probably null |
Het |
| Adamtsl3 |
A |
C |
7: 82,223,188 (GRCm39) |
I990L |
probably damaging |
Het |
| Add1 |
T |
A |
5: 34,788,122 (GRCm39) |
S724T |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,072,627 (GRCm39) |
N865S |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ap1m2 |
T |
A |
9: 21,223,523 (GRCm39) |
I8F |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,824,944 (GRCm39) |
T811A |
|
Het |
| Axin2 |
A |
G |
11: 108,822,378 (GRCm39) |
D310G |
probably damaging |
Het |
| Bin1 |
T |
G |
18: 32,562,251 (GRCm39) |
F379L |
possibly damaging |
Het |
| Bin2 |
C |
A |
15: 100,554,631 (GRCm39) |
S91I |
possibly damaging |
Het |
| Birc5 |
A |
G |
11: 117,743,599 (GRCm39) |
N111S |
probably benign |
Het |
| Blk |
T |
A |
14: 63,620,130 (GRCm39) |
N137Y |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 29,796,873 (GRCm39) |
A1534V |
probably damaging |
Het |
| Ccr3 |
A |
G |
9: 123,828,949 (GRCm39) |
I95V |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,309,862 (GRCm39) |
D1579G |
probably benign |
Het |
| Cfap36 |
C |
A |
11: 29,196,541 (GRCm39) |
K19N |
probably benign |
Het |
| Cfap52 |
C |
T |
11: 67,844,860 (GRCm39) |
V70M |
possibly damaging |
Het |
| Chid1 |
A |
T |
7: 141,093,722 (GRCm39) |
I298N |
probably damaging |
Het |
| Clstn1 |
G |
T |
4: 149,731,322 (GRCm39) |
R888L |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,822,596 (GRCm39) |
T254S |
unknown |
Het |
| Coro6 |
C |
T |
11: 77,359,329 (GRCm39) |
P301S |
probably damaging |
Het |
| Cstdc2 |
A |
G |
2: 148,692,589 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,422,114 (GRCm39) |
D102G |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,433,381 (GRCm39) |
F353L |
probably benign |
Het |
| Dnajc10 |
A |
T |
2: 80,163,315 (GRCm39) |
I344L |
probably benign |
Het |
| Dst |
T |
C |
1: 34,303,652 (GRCm39) |
V4026A |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,715,203 (GRCm39) |
E114G |
possibly damaging |
Het |
| Fabp7 |
A |
G |
10: 57,662,439 (GRCm39) |
I109V |
probably benign |
Het |
| Fars2 |
T |
C |
13: 36,416,109 (GRCm39) |
F206S |
probably damaging |
Het |
| Gbp8 |
C |
T |
5: 105,179,155 (GRCm39) |
A115T |
possibly damaging |
Het |
| Gm17067 |
T |
C |
7: 42,357,627 (GRCm39) |
T292A |
probably benign |
Het |
| Gp2 |
T |
C |
7: 119,041,929 (GRCm39) |
D532G |
probably benign |
Het |
| Gtf2i |
C |
A |
5: 134,271,534 (GRCm39) |
A917S |
probably damaging |
Het |
| Guca1b |
A |
G |
17: 47,702,827 (GRCm39) |
E169G |
possibly damaging |
Het |
| Hdac1 |
A |
T |
4: 129,428,499 (GRCm39) |
Y24N |
probably damaging |
Het |
| Hepacam |
T |
C |
9: 37,293,693 (GRCm39) |
F251L |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,506,092 (GRCm39) |
N3811K |
probably damaging |
Het |
| Htra4 |
A |
T |
8: 25,520,133 (GRCm39) |
M391K |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,097,930 (GRCm39) |
T760A |
probably benign |
Het |
| Ints1 |
T |
G |
5: 139,748,586 (GRCm39) |
T1074P |
probably benign |
Het |
| Itga6 |
A |
T |
2: 71,647,015 (GRCm39) |
Q75L |
possibly damaging |
Het |
| Mapk14 |
A |
C |
17: 28,960,814 (GRCm39) |
N272T |
probably benign |
Het |
| Meikin |
A |
T |
11: 54,285,517 (GRCm39) |
T185S |
possibly damaging |
Het |
| Moxd2 |
C |
T |
6: 40,860,490 (GRCm39) |
G318D |
possibly damaging |
Het |
| Mtmr3 |
G |
A |
11: 4,437,739 (GRCm39) |
T905I |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,567,824 (GRCm39) |
I1565T |
unknown |
Het |
| Myh14 |
A |
G |
7: 44,271,281 (GRCm39) |
S1500P |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,310,874 (GRCm39) |
E475G |
probably benign |
Het |
| Ngef |
C |
A |
1: 87,473,581 (GRCm39) |
R67L |
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,470,528 (GRCm39) |
E213G |
probably damaging |
Het |
| Or13c3 |
T |
A |
4: 52,856,052 (GRCm39) |
I154F |
probably damaging |
Het |
| Or5b124 |
A |
G |
19: 13,610,903 (GRCm39) |
I143V |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,906,573 (GRCm39) |
S53P |
probably benign |
Het |
| Or9r3 |
A |
C |
10: 129,947,723 (GRCm39) |
I312R |
probably benign |
Het |
| Pcdhga3 |
C |
T |
18: 37,809,088 (GRCm39) |
L514F |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,221,572 (GRCm39) |
M2018T |
possibly damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,503,755 (GRCm39) |
|
probably null |
Het |
| Psapl1 |
A |
G |
5: 36,362,880 (GRCm39) |
S491G |
possibly damaging |
Het |
| Psmf1 |
A |
T |
2: 151,577,457 (GRCm39) |
D73E |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,358 (GRCm39) |
D147G |
probably benign |
Het |
| Ramacl |
T |
C |
13: 67,056,063 (GRCm39) |
F19L |
probably damaging |
Het |
| Rdh8 |
T |
A |
9: 20,736,935 (GRCm39) |
V309E |
possibly damaging |
Het |
| Rhobtb3 |
T |
A |
13: 76,041,121 (GRCm39) |
T396S |
probably benign |
Het |
| Rpa1 |
A |
T |
11: 75,200,999 (GRCm39) |
L475* |
probably null |
Het |
| Rtkn |
T |
A |
6: 83,129,190 (GRCm39) |
S562T |
probably damaging |
Het |
| Saxo5 |
A |
T |
8: 3,525,967 (GRCm39) |
Y40F |
possibly damaging |
Het |
| Scamp1 |
C |
T |
13: 94,389,533 (GRCm39) |
D35N |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,371,146 (GRCm39) |
A309T |
probably damaging |
Het |
| Scube1 |
G |
A |
15: 83,543,298 (GRCm39) |
T180M |
possibly damaging |
Het |
| Sez6 |
T |
G |
11: 77,868,473 (GRCm39) |
F945V |
probably damaging |
Het |
| Sf3a1 |
C |
T |
11: 4,116,681 (GRCm39) |
T124M |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,722,659 (GRCm39) |
K759E |
probably damaging |
Het |
| Sort1 |
C |
A |
3: 108,247,994 (GRCm39) |
C446* |
probably null |
Het |
| Sun1 |
T |
A |
5: 139,219,273 (GRCm39) |
S360T |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,268,238 (GRCm39) |
F536L |
probably damaging |
Het |
| Taar6 |
A |
C |
10: 23,861,273 (GRCm39) |
V91G |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,666,348 (GRCm39) |
L290H |
probably damaging |
Het |
| Tmc2 |
T |
A |
2: 130,083,516 (GRCm39) |
I491N |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,187 (GRCm39) |
I113T |
probably damaging |
Het |
| Ttc14 |
C |
T |
3: 33,857,071 (GRCm39) |
Q183* |
probably null |
Het |
| Txndc16 |
T |
A |
14: 45,373,385 (GRCm39) |
D748V |
probably damaging |
Het |
| Xkr6 |
A |
G |
14: 63,844,067 (GRCm39) |
D30G |
possibly damaging |
Het |
| Zc3h14 |
C |
T |
12: 98,745,505 (GRCm39) |
S498L |
probably damaging |
Het |
| Zc3h7b |
A |
C |
15: 81,661,184 (GRCm39) |
D341A |
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,960,923 (GRCm39) |
C505S |
probably damaging |
Het |
| Zfp354c |
A |
C |
11: 50,706,088 (GRCm39) |
L329R |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,657,871 (GRCm39) |
D680V |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,185 (GRCm39) |
F580L |
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 |
|
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 |
|
|
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'- TGTGGAAGATTCTGCAATACACAAG -3'
(R):5'- CTGTATGGAGGAAATTGCACTATTG -3'
Sequencing Primer
(F):5'- GAAGATTCTGCAATACACAAGAAATC -3'
(R):5'- TGCAGCACATGTATACTGGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation