Incidental Mutation 'R1440:Cacna2d1'
| ID |
160919 |
| 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 |
039495-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R1440 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
16139689-16579509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16560493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 765
(K765I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039370]
[ENSMUST00000078272]
[ENSMUST00000101581]
[ENSMUST00000115281]
[ENSMUST00000167946]
[ENSMUST00000180204]
[ENSMUST00000199704]
|
| AlphaFold |
O08532 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039370
AA Change: K782I
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: K782I
| 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 |
possibly damaging
Transcript: ENSMUST00000078272
AA Change: K763I
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: K763I
| 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 |
possibly damaging
Transcript: ENSMUST00000101581
AA Change: K770I
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: K770I
| 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 damaging
Transcript: ENSMUST00000115281
AA Change: K765I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: K765I
| 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 |
possibly damaging
Transcript: ENSMUST00000167946
AA Change: K770I
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: K770I
| 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 damaging
Transcript: ENSMUST00000180204
AA Change: K765I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: K765I
| 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 |
possibly damaging
Transcript: ENSMUST00000199704
AA Change: K758I
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: K758I
| 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 |
0.0838 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 84.7%
|
| Validation Efficiency |
95% (94/99) |
| 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 |
|---|
| 4930447C04Rik |
T |
G |
12: 72,928,195 (GRCm39) |
N512T |
possibly damaging |
Het |
| Aadacl2 |
A |
T |
3: 59,932,313 (GRCm39) |
H276L |
probably damaging |
Het |
| Adam12 |
G |
A |
7: 133,533,543 (GRCm39) |
T445M |
probably benign |
Het |
| Ash2l |
A |
T |
8: 26,317,406 (GRCm39) |
F290L |
probably benign |
Het |
| Asxl3 |
C |
T |
18: 22,658,281 (GRCm39) |
P2097L |
probably benign |
Het |
| Atmin |
A |
G |
8: 117,684,115 (GRCm39) |
I592V |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,941,145 (GRCm39) |
|
probably null |
Het |
| BC004004 |
T |
C |
17: 29,515,665 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,437,552 (GRCm39) |
N328S |
possibly damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,860,604 (GRCm39) |
|
probably null |
Het |
| Ccdc28b |
A |
G |
4: 129,514,408 (GRCm39) |
V198A |
probably benign |
Het |
| Ces1b |
G |
T |
8: 93,794,736 (GRCm39) |
R288S |
probably damaging |
Het |
| Cfap100 |
T |
G |
6: 90,389,166 (GRCm39) |
T198P |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,781,610 (GRCm39) |
S227P |
probably damaging |
Het |
| Cntn5 |
C |
A |
9: 10,145,344 (GRCm39) |
C122F |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,382,472 (GRCm39) |
|
probably null |
Het |
| Cyp4a10 |
A |
C |
4: 115,386,646 (GRCm39) |
D431A |
probably damaging |
Het |
| Cyp4f16 |
CTATG |
CTATGTATG |
17: 32,769,708 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
A |
T |
8: 37,060,617 (GRCm39) |
|
probably benign |
Het |
| Dlgap2 |
T |
C |
8: 14,777,060 (GRCm39) |
S102P |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,117,753 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
A |
C |
1: 80,526,853 (GRCm39) |
S1124A |
probably benign |
Het |
| Dscam |
C |
T |
16: 96,621,151 (GRCm39) |
R519H |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,999,581 (GRCm39) |
|
probably benign |
Het |
| Evi2a |
G |
T |
11: 79,418,096 (GRCm39) |
N171K |
probably damaging |
Het |
| Fbxl15 |
T |
C |
19: 46,318,684 (GRCm39) |
L286P |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,525 (GRCm39) |
I155F |
probably benign |
Het |
| Gcat |
C |
T |
15: 78,918,194 (GRCm39) |
A84V |
probably null |
Het |
| Gls |
A |
G |
1: 52,230,293 (GRCm39) |
F473L |
possibly damaging |
Het |
| Gnat1 |
T |
C |
9: 107,554,164 (GRCm39) |
D169G |
probably damaging |
Het |
| Grm3 |
A |
C |
5: 9,639,958 (GRCm39) |
M29R |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,375,085 (GRCm39) |
D3303V |
probably damaging |
Het |
| Ibsp |
G |
A |
5: 104,458,405 (GRCm39) |
G314D |
unknown |
Het |
| Irag2 |
C |
T |
6: 145,120,237 (GRCm39) |
T484M |
possibly damaging |
Het |
| Lgr6 |
C |
A |
1: 134,915,210 (GRCm39) |
A513S |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,910 (GRCm39) |
C313S |
probably damaging |
Het |
| Marchf10 |
G |
T |
11: 105,281,409 (GRCm39) |
T292K |
probably damaging |
Het |
| Mcoln2 |
C |
A |
3: 145,896,137 (GRCm39) |
Y6* |
probably null |
Het |
| Mup4 |
A |
G |
4: 59,958,076 (GRCm39) |
I164T |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,817,717 (GRCm39) |
|
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,456,100 (GRCm39) |
I506T |
probably damaging |
Het |
| Notch1 |
A |
T |
2: 26,370,976 (GRCm39) |
|
probably benign |
Het |
| Nr4a3 |
A |
T |
4: 48,051,777 (GRCm39) |
Q177L |
probably benign |
Het |
| Nsun4 |
A |
G |
4: 115,910,147 (GRCm39) |
S138P |
possibly damaging |
Het |
| Or1a1 |
A |
G |
11: 74,086,505 (GRCm39) |
M59V |
probably damaging |
Het |
| Or2b6 |
G |
T |
13: 21,823,560 (GRCm39) |
N44K |
probably benign |
Het |
| Or2d36 |
A |
T |
7: 106,747,405 (GRCm39) |
N294I |
probably damaging |
Het |
| Or4k5 |
T |
C |
14: 50,385,815 (GRCm39) |
N172S |
probably damaging |
Het |
| Pagr1a |
A |
T |
7: 126,615,469 (GRCm39) |
|
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,343 (GRCm39) |
I82L |
probably benign |
Het |
| Pds5b |
A |
T |
5: 150,677,882 (GRCm39) |
N500I |
probably damaging |
Het |
| Pik3r6 |
A |
T |
11: 68,422,271 (GRCm39) |
E223D |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,404,384 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,422,383 (GRCm39) |
D1204G |
probably damaging |
Het |
| Prickle1 |
C |
T |
15: 93,402,955 (GRCm39) |
E244K |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 76,002,789 (GRCm39) |
V211E |
probably damaging |
Het |
| Rad51d |
G |
A |
11: 82,781,179 (GRCm39) |
R23* |
probably null |
Het |
| Rapgef6 |
G |
A |
11: 54,517,534 (GRCm39) |
G262R |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,333,600 (GRCm39) |
|
probably benign |
Het |
| Rev1 |
T |
C |
1: 38,127,286 (GRCm39) |
T325A |
probably damaging |
Het |
| Rnd3 |
T |
A |
2: 51,022,518 (GRCm39) |
I175L |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,417,619 (GRCm39) |
L1164F |
probably damaging |
Het |
| S100a7a |
T |
C |
3: 90,562,942 (GRCm39) |
V43A |
probably benign |
Het |
| Scaper |
A |
C |
9: 55,510,202 (GRCm39) |
Y1104* |
probably null |
Het |
| Scn2a |
T |
A |
2: 65,594,938 (GRCm39) |
V1929D |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,359,785 (GRCm39) |
N141S |
possibly damaging |
Het |
| Slc12a7 |
T |
G |
13: 73,949,127 (GRCm39) |
L718R |
probably damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,605,005 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
G |
A |
13: 39,138,110 (GRCm39) |
Q100* |
probably null |
Het |
| Slc9a5 |
T |
A |
8: 106,081,785 (GRCm39) |
V170E |
possibly damaging |
Het |
| Snx5 |
T |
G |
2: 144,096,731 (GRCm39) |
K278T |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,243,000 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,873,647 (GRCm39) |
W1008* |
probably null |
Het |
| Stab2 |
C |
T |
10: 86,697,231 (GRCm39) |
|
probably null |
Het |
| Tacc3 |
A |
G |
5: 33,825,321 (GRCm39) |
E377G |
probably benign |
Het |
| Tango6 |
T |
C |
8: 107,415,671 (GRCm39) |
L164P |
probably damaging |
Het |
| Tbc1d12 |
T |
A |
19: 38,902,796 (GRCm39) |
S570T |
possibly damaging |
Het |
| Thbs1 |
T |
C |
2: 117,944,836 (GRCm39) |
F217L |
probably damaging |
Het |
| Tmbim6 |
T |
A |
15: 99,300,004 (GRCm39) |
V40E |
probably damaging |
Het |
| Tmigd1 |
A |
T |
11: 76,800,986 (GRCm39) |
N158Y |
probably damaging |
Het |
| Top3b |
C |
T |
16: 16,710,641 (GRCm39) |
R824* |
probably null |
Het |
| Tram1l1 |
A |
T |
3: 124,115,580 (GRCm39) |
K247* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,833,366 (GRCm39) |
Y686C |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,858,680 (GRCm39) |
Q218R |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,288,282 (GRCm39) |
A439D |
probably damaging |
Het |
| Ubn1 |
C |
A |
16: 4,895,158 (GRCm39) |
P735T |
probably damaging |
Het |
| Usp40 |
A |
G |
1: 87,909,808 (GRCm39) |
S549P |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,655,201 (GRCm39) |
T176A |
probably benign |
Het |
| Utp4 |
T |
G |
8: 107,624,685 (GRCm39) |
|
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,518,853 (GRCm39) |
|
probably benign |
Het |
| Zfp979 |
A |
T |
4: 147,698,493 (GRCm39) |
I72K |
possibly 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 |
|
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'- GGCTAATCCCGTGTATTTCAACCACT -3'
(R):5'- TGGATCTTCCCCATAAATGACTTCGGT -3'
Sequencing Primer
(F):5'- ttcaacccttcaccacctg -3'
(R):5'- ACTTCGGTTTATGATGTAACGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation