Incidental Mutation 'R1538:Cacna2d2'
| ID |
169704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna2d2
|
| Ensembl Gene |
ENSMUSG00000010066 |
| Gene Name |
calcium channel, voltage-dependent, alpha 2/delta subunit 2 |
| Synonyms |
a2d2 |
| MMRRC Submission |
039577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.872)
|
| Stock # |
R1538 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107276948-107406545 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107394615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 596
(R596S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010210]
[ENSMUST00000085092]
[ENSMUST00000164988]
[ENSMUST00000166799]
[ENSMUST00000168532]
[ENSMUST00000170737]
|
| AlphaFold |
Q6PHS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010210
AA Change: R596S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000010210
Gene: ENSMUSG00000010066
AA Change: R596S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
144 |
268 |
2e-48 |
PFAM |
|
VWA
|
292 |
467 |
4.93e-22 |
SMART |
|
Pfam:Cache_1
|
488 |
577 |
9.9e-32 |
PFAM |
|
Pfam:VGCC_alpha2
|
583 |
673 |
1.8e-33 |
PFAM |
|
low complexity region
|
968 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085092
AA Change: R596S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082173
Gene: ENSMUSG00000010066
AA Change: R596S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
144 |
268 |
2e-48 |
PFAM |
|
VWA
|
292 |
467 |
4.93e-22 |
SMART |
|
Pfam:Cache_1
|
488 |
577 |
1e-31 |
PFAM |
|
Pfam:VGCC_alpha2
|
583 |
676 |
5.8e-35 |
PFAM |
|
low complexity region
|
974 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1120 |
1143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164988
AA Change: R596S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130451
Gene: ENSMUSG00000010066
AA Change: R596S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
144 |
268 |
6.7e-49 |
PFAM |
|
VWA
|
292 |
467 |
4.93e-22 |
SMART |
|
Pfam:Cache_1
|
488 |
577 |
2.4e-31 |
PFAM |
|
Pfam:VGCC_alpha2
|
583 |
675 |
2.5e-34 |
PFAM |
|
low complexity region
|
974 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1123 |
1146 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166799
AA Change: R596S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126029
Gene: ENSMUSG00000010066
AA Change: R596S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
144 |
268 |
8.5e-44 |
PFAM |
|
VWA
|
292 |
467 |
4.93e-22 |
SMART |
|
Pfam:Cache_1
|
488 |
576 |
1.3e-32 |
PFAM |
|
Pfam:VGCC_alpha2
|
583 |
675 |
1.4e-47 |
PFAM |
|
low complexity region
|
975 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1123 |
1146 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168532
AA Change: R596S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132512
Gene: ENSMUSG00000010066
AA Change: R596S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
144 |
268 |
2.1e-48 |
PFAM |
|
VWA
|
292 |
467 |
4.93e-22 |
SMART |
|
Pfam:Cache_1
|
488 |
577 |
1e-31 |
PFAM |
|
Pfam:VGCC_alpha2
|
583 |
676 |
5.8e-35 |
PFAM |
|
low complexity region
|
974 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169354
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170737
AA Change: R596S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125943
Gene: ENSMUSG00000010066
AA Change: R596S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
Pfam:VWA_N
|
144 |
268 |
2e-48 |
PFAM |
|
VWA
|
292 |
467 |
4.93e-22 |
SMART |
|
Pfam:Cache_1
|
488 |
577 |
1e-31 |
PFAM |
|
Pfam:VGCC_alpha2
|
583 |
673 |
1.9e-33 |
PFAM |
|
low complexity region
|
968 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194842
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for different mutant alleles show variable movement abnormalities including waddling, reeling or very slow gait, ataxia, and mild spike-wave seizures. While gross CNS abnormalities and demyelination are present in some mutant lines, they are not observed in others. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,771,162 (GRCm39) |
R117L |
probably benign |
Het |
| 4930447C04Rik |
G |
A |
12: 72,928,120 (GRCm39) |
A537V |
possibly damaging |
Het |
| 4930579F01Rik |
A |
C |
3: 137,889,517 (GRCm39) |
D33E |
probably damaging |
Het |
| Acnat1 |
T |
C |
4: 49,447,835 (GRCm39) |
K249E |
possibly damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,942,295 (GRCm39) |
I526T |
possibly damaging |
Het |
| Aplp1 |
C |
A |
7: 30,135,452 (GRCm39) |
E535D |
probably benign |
Het |
| Armc8 |
T |
A |
9: 99,387,343 (GRCm39) |
H425L |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asprv1 |
C |
T |
6: 86,605,618 (GRCm39) |
Q155* |
probably null |
Het |
| Atl1 |
A |
G |
12: 69,972,962 (GRCm39) |
Q94R |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,595,440 (GRCm39) |
L970P |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,973,772 (GRCm39) |
M2514T |
probably benign |
Het |
| Cacfd1 |
T |
A |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,437,504 (GRCm39) |
L344P |
probably damaging |
Het |
| Catip |
C |
A |
1: 74,403,811 (GRCm39) |
S176* |
probably null |
Het |
| Cdcp1 |
G |
A |
9: 123,002,653 (GRCm39) |
S806L |
probably damaging |
Het |
| Cdk6 |
A |
T |
5: 3,570,675 (GRCm39) |
I289L |
probably benign |
Het |
| Cers3 |
C |
T |
7: 66,431,571 (GRCm39) |
T182I |
probably damaging |
Het |
| Cfap46 |
T |
A |
7: 139,262,924 (GRCm39) |
N43I |
probably null |
Het |
| Clec4n |
A |
T |
6: 123,206,992 (GRCm39) |
R5S |
possibly damaging |
Het |
| Cnr2 |
G |
T |
4: 135,644,012 (GRCm39) |
S30I |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,907,170 (GRCm39) |
G870E |
probably damaging |
Het |
| Cpne6 |
T |
C |
14: 55,752,677 (GRCm39) |
V289A |
possibly damaging |
Het |
| Crym |
G |
A |
7: 119,796,938 (GRCm39) |
L141F |
probably benign |
Het |
| Cxxc5 |
T |
C |
18: 35,991,622 (GRCm39) |
S8P |
unknown |
Het |
| Dido1 |
A |
C |
2: 180,326,763 (GRCm39) |
S453R |
possibly damaging |
Het |
| Dnah2 |
A |
C |
11: 69,368,028 (GRCm39) |
S1770R |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,535,148 (GRCm39) |
V2704A |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,760,535 (GRCm39) |
N1738S |
probably damaging |
Het |
| Eri3 |
A |
G |
4: 117,439,836 (GRCm39) |
T138A |
possibly damaging |
Het |
| Ext2 |
C |
T |
2: 93,537,632 (GRCm39) |
E585K |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,324,056 (GRCm39) |
S38C |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,854,917 (GRCm39) |
I1848F |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,753,675 (GRCm39) |
P156S |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,764 (GRCm39) |
I686F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,339,339 (GRCm39) |
L544P |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,031,177 (GRCm39) |
Y251C |
probably benign |
Het |
| Gemin4 |
G |
T |
11: 76,101,987 (GRCm39) |
Q925K |
probably benign |
Het |
| Gm18856 |
T |
A |
13: 14,139,274 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
A |
T |
4: 155,636,171 (GRCm39) |
T164S |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,822 (GRCm39) |
D31G |
possibly damaging |
Het |
| Gzmd |
A |
C |
14: 56,367,802 (GRCm39) |
I157S |
probably benign |
Het |
| Il31ra |
T |
A |
13: 112,684,000 (GRCm39) |
N43I |
possibly damaging |
Het |
| Irak3 |
T |
C |
10: 120,001,035 (GRCm39) |
T297A |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,685,927 (GRCm39) |
D649G |
probably damaging |
Het |
| Kif3b |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
2: 153,159,382 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,275,815 (GRCm39) |
F111S |
probably damaging |
Het |
| Lratd2 |
A |
G |
15: 60,695,498 (GRCm39) |
C83R |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,697,585 (GRCm39) |
S319P |
possibly damaging |
Het |
| Mettl15 |
T |
C |
2: 108,962,010 (GRCm39) |
|
probably null |
Het |
| Mtarc1 |
T |
C |
1: 184,534,199 (GRCm39) |
E223G |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,320,748 (GRCm39) |
Q1107R |
possibly damaging |
Het |
| Ncoa7 |
T |
G |
10: 30,570,207 (GRCm39) |
M251L |
probably damaging |
Het |
| Nos2 |
A |
T |
11: 78,847,396 (GRCm39) |
M1023L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,626,399 (GRCm39) |
K25E |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,682,860 (GRCm39) |
Y223F |
probably damaging |
Het |
| Or52s1b |
A |
G |
7: 102,822,193 (GRCm39) |
I217T |
probably damaging |
Het |
| Or5k14 |
T |
A |
16: 58,693,261 (GRCm39) |
N84I |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,493 (GRCm39) |
I95F |
probably damaging |
Het |
| Or6b6 |
A |
T |
7: 106,571,190 (GRCm39) |
Y120* |
probably null |
Het |
| Or6c206 |
T |
C |
10: 129,097,082 (GRCm39) |
I84T |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,742,306 (GRCm39) |
E225K |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,373,047 (GRCm39) |
S2363A |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,218,142 (GRCm39) |
L1199P |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,370,534 (GRCm39) |
M141K |
probably benign |
Het |
| Prss29 |
A |
T |
17: 25,539,257 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pter |
T |
A |
2: 12,983,417 (GRCm39) |
S141T |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,501,662 (GRCm39) |
D1181E |
probably damaging |
Het |
| Rab3ip |
T |
A |
10: 116,775,159 (GRCm39) |
Q66H |
probably damaging |
Het |
| Rgs12 |
A |
T |
5: 35,178,511 (GRCm39) |
T779S |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,048,922 (GRCm39) |
F786S |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,540 (GRCm39) |
D640V |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,899 (GRCm39) |
T1738A |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,447,508 (GRCm39) |
S3185P |
probably damaging |
Het |
| Scnn1a |
T |
A |
6: 125,315,856 (GRCm39) |
D321E |
possibly damaging |
Het |
| Sec31b |
G |
C |
19: 44,507,025 (GRCm39) |
L1014V |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,468,690 (GRCm39) |
Y111C |
probably damaging |
Het |
| Shld2 |
C |
G |
14: 33,990,833 (GRCm39) |
Q24H |
probably damaging |
Het |
| Siglecg |
A |
G |
7: 43,067,313 (GRCm39) |
K627E |
possibly damaging |
Het |
| Sigmar1 |
T |
C |
4: 41,740,845 (GRCm39) |
I95V |
probably benign |
Het |
| Sirpb1b |
T |
A |
3: 15,613,819 (GRCm39) |
T88S |
possibly damaging |
Het |
| Spire2 |
T |
G |
8: 124,084,895 (GRCm39) |
L245R |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,527,192 (GRCm39) |
P1150T |
probably benign |
Het |
| Stat6 |
C |
A |
10: 127,489,125 (GRCm39) |
T380N |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,746,166 (GRCm39) |
G162E |
probably benign |
Het |
| Surf4 |
T |
C |
2: 26,823,710 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
C |
7: 130,227,149 (GRCm39) |
M1278T |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,097,106 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
A |
T |
6: 42,655,923 (GRCm39) |
V351E |
probably damaging |
Het |
| Tmcc2 |
A |
G |
1: 132,308,718 (GRCm39) |
S59P |
probably damaging |
Het |
| Tmem17 |
G |
A |
11: 22,467,266 (GRCm39) |
S60N |
possibly damaging |
Het |
| Tmem63b |
C |
G |
17: 45,989,904 (GRCm39) |
R88P |
possibly damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,499,753 (GRCm39) |
I307N |
probably benign |
Het |
| Treml2 |
A |
T |
17: 48,609,786 (GRCm39) |
T73S |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,774,012 (GRCm39) |
H2876R |
possibly damaging |
Het |
| Tyw3 |
A |
G |
3: 154,302,506 (GRCm39) |
I53T |
probably damaging |
Het |
| Ugp2 |
A |
G |
11: 21,283,791 (GRCm39) |
I92T |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,166 (GRCm39) |
M748K |
possibly damaging |
Het |
| Vmn2r82 |
T |
C |
10: 79,192,578 (GRCm39) |
S52P |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,886,828 (GRCm39) |
S320T |
probably benign |
Het |
| Zbtb16 |
A |
T |
9: 48,743,583 (GRCm39) |
M243K |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,150,329 (GRCm39) |
T432I |
possibly damaging |
Het |
|
| Other mutations in Cacna2d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Cacna2d2
|
APN |
9 |
107,392,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00425:Cacna2d2
|
APN |
9 |
107,404,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01294:Cacna2d2
|
APN |
9 |
107,391,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01969:Cacna2d2
|
APN |
9 |
107,386,415 (GRCm39) |
missense |
probably benign |
|
|
IGL01974:Cacna2d2
|
APN |
9 |
107,394,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02001:Cacna2d2
|
APN |
9 |
107,399,315 (GRCm39) |
missense |
probably benign |
|
|
IGL02125:Cacna2d2
|
APN |
9 |
107,391,103 (GRCm39) |
nonsense |
probably null |
|
|
IGL02143:Cacna2d2
|
APN |
9 |
107,395,474 (GRCm39) |
splice site |
probably null |
|
|
IGL02150:Cacna2d2
|
APN |
9 |
107,404,515 (GRCm39) |
splice site |
probably benign |
|
|
IGL02213:Cacna2d2
|
APN |
9 |
107,391,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02220:Cacna2d2
|
APN |
9 |
107,392,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02238:Cacna2d2
|
APN |
9 |
107,390,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02466:Cacna2d2
|
APN |
9 |
107,342,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02569:Cacna2d2
|
APN |
9 |
107,391,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02571:Cacna2d2
|
APN |
9 |
107,402,845 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02825:Cacna2d2
|
APN |
9 |
107,401,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Cacna2d2
|
APN |
9 |
107,401,397 (GRCm39) |
splice site |
probably null |
|
|
IGL03064:Cacna2d2
|
APN |
9 |
107,386,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Blow
|
UTSW |
9 |
107,390,805 (GRCm39) |
missense |
probably null |
0.90 |
|
dilemma
|
UTSW |
9 |
107,392,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hera
|
UTSW |
9 |
107,390,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ionian
|
UTSW |
9 |
107,402,575 (GRCm39) |
missense |
probably benign |
0.05 |
|
Solomonic
|
UTSW |
9 |
107,401,861 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4131001:Cacna2d2
|
UTSW |
9 |
107,401,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Cacna2d2
|
UTSW |
9 |
107,391,869 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0233:Cacna2d2
|
UTSW |
9 |
107,391,869 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0387:Cacna2d2
|
UTSW |
9 |
107,391,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Cacna2d2
|
UTSW |
9 |
107,401,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Cacna2d2
|
UTSW |
9 |
107,401,582 (GRCm39) |
splice site |
probably benign |
|
|
R0545:Cacna2d2
|
UTSW |
9 |
107,402,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Cacna2d2
|
UTSW |
9 |
107,394,456 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1024:Cacna2d2
|
UTSW |
9 |
107,404,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1750:Cacna2d2
|
UTSW |
9 |
107,401,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1774:Cacna2d2
|
UTSW |
9 |
107,403,350 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1800:Cacna2d2
|
UTSW |
9 |
107,404,632 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1873:Cacna2d2
|
UTSW |
9 |
107,391,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1935:Cacna2d2
|
UTSW |
9 |
107,386,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1936:Cacna2d2
|
UTSW |
9 |
107,386,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Cacna2d2
|
UTSW |
9 |
107,389,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2095:Cacna2d2
|
UTSW |
9 |
107,404,364 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2135:Cacna2d2
|
UTSW |
9 |
107,403,712 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2197:Cacna2d2
|
UTSW |
9 |
107,404,602 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2266:Cacna2d2
|
UTSW |
9 |
107,390,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2483:Cacna2d2
|
UTSW |
9 |
107,389,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Cacna2d2
|
UTSW |
9 |
107,391,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4392:Cacna2d2
|
UTSW |
9 |
107,277,479 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4629:Cacna2d2
|
UTSW |
9 |
107,404,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Cacna2d2
|
UTSW |
9 |
107,392,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Cacna2d2
|
UTSW |
9 |
107,390,805 (GRCm39) |
missense |
probably null |
0.90 |
|
R5347:Cacna2d2
|
UTSW |
9 |
107,391,313 (GRCm39) |
missense |
probably benign |
|
|
R5719:Cacna2d2
|
UTSW |
9 |
107,401,851 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5737:Cacna2d2
|
UTSW |
9 |
107,403,946 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5739:Cacna2d2
|
UTSW |
9 |
107,389,528 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6037:Cacna2d2
|
UTSW |
9 |
107,390,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Cacna2d2
|
UTSW |
9 |
107,390,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Cacna2d2
|
UTSW |
9 |
107,374,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6170:Cacna2d2
|
UTSW |
9 |
107,404,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Cacna2d2
|
UTSW |
9 |
107,386,415 (GRCm39) |
missense |
probably benign |
|
|
R6427:Cacna2d2
|
UTSW |
9 |
107,392,641 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7652:Cacna2d2
|
UTSW |
9 |
107,401,397 (GRCm39) |
splice site |
probably null |
|
|
R7850:Cacna2d2
|
UTSW |
9 |
107,402,575 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7936:Cacna2d2
|
UTSW |
9 |
107,401,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7978:Cacna2d2
|
UTSW |
9 |
107,395,456 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8039:Cacna2d2
|
UTSW |
9 |
107,404,632 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8165:Cacna2d2
|
UTSW |
9 |
107,402,653 (GRCm39) |
splice site |
probably null |
|
|
R8274:Cacna2d2
|
UTSW |
9 |
107,401,861 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8286:Cacna2d2
|
UTSW |
9 |
107,392,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Cacna2d2
|
UTSW |
9 |
107,401,334 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8464:Cacna2d2
|
UTSW |
9 |
107,389,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8479:Cacna2d2
|
UTSW |
9 |
107,403,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8765:Cacna2d2
|
UTSW |
9 |
107,394,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Cacna2d2
|
UTSW |
9 |
107,391,855 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9037:Cacna2d2
|
UTSW |
9 |
107,386,395 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9225:Cacna2d2
|
UTSW |
9 |
107,403,403 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9295:Cacna2d2
|
UTSW |
9 |
107,386,419 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9372:Cacna2d2
|
UTSW |
9 |
107,394,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9414:Cacna2d2
|
UTSW |
9 |
107,392,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Cacna2d2
|
UTSW |
9 |
107,392,689 (GRCm39) |
nonsense |
probably null |
|
|
R9435:Cacna2d2
|
UTSW |
9 |
107,396,384 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9584:Cacna2d2
|
UTSW |
9 |
107,277,404 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9642:Cacna2d2
|
UTSW |
9 |
107,392,627 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9784:Cacna2d2
|
UTSW |
9 |
107,404,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cacna2d2
|
UTSW |
9 |
107,403,301 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1176:Cacna2d2
|
UTSW |
9 |
107,394,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGCTACATCCCAATCTCAAGCC -3'
(R):5'- ACAGCCTATGCTGAGAGGGTCAAG -3'
Sequencing Primer
(F):5'- TGAGCCAAGTGAGTAGCCC -3'
(R):5'- tctctcccttccctgtctg -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation