Incidental Mutation 'R1501:Cacna2d3'
| ID |
169297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna2d3
|
| Ensembl Gene |
ENSMUSG00000021991 |
| Gene Name |
calcium channel, voltage-dependent, alpha2/delta subunit 3 |
| Synonyms |
alpha 2 delta-3, alpha2delta3 |
| MMRRC Submission |
040867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1501 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28703137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 845
(C845R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
|
| AlphaFold |
Q9Z1L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022567
AA Change: C845R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: C845R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
Blast:WNT1
|
28 |
103 |
2e-33 |
BLAST |
|
Pfam:VWA_N
|
113 |
229 |
6.8e-40 |
PFAM |
|
VWA
|
254 |
439 |
4.13e-24 |
SMART |
|
Pfam:Cache_1
|
452 |
548 |
3e-32 |
PFAM |
|
low complexity region
|
1070 |
1088 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
T |
14: 78,750,787 (GRCm39) |
S533R |
probably benign |
Het |
| Amph |
C |
T |
13: 19,288,461 (GRCm39) |
Q317* |
probably null |
Het |
| Bach2 |
A |
G |
4: 32,562,279 (GRCm39) |
T249A |
possibly damaging |
Het |
| Calml4 |
A |
G |
9: 62,778,622 (GRCm39) |
K12E |
probably benign |
Het |
| Chrd |
C |
T |
16: 20,556,283 (GRCm39) |
R615W |
probably damaging |
Het |
| Chst15 |
T |
A |
7: 131,870,798 (GRCm39) |
K246* |
probably null |
Het |
| Cmtr2 |
G |
A |
8: 110,948,235 (GRCm39) |
D182N |
probably benign |
Het |
| Cyp2d9 |
C |
A |
15: 82,338,525 (GRCm39) |
C186* |
probably null |
Het |
| Cyp3a13 |
G |
T |
5: 137,909,892 (GRCm39) |
|
probably null |
Het |
| Dcaf17 |
A |
T |
2: 70,912,332 (GRCm39) |
I320F |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,145,297 (GRCm39) |
I227V |
possibly damaging |
Het |
| Dlc1 |
G |
T |
8: 37,405,302 (GRCm39) |
N162K |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,317,670 (GRCm39) |
R455H |
probably benign |
Het |
| Drg2 |
G |
T |
11: 60,355,679 (GRCm39) |
A306S |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,465,076 (GRCm39) |
R422S |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,766,452 (GRCm39) |
V353A |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,617,756 (GRCm39) |
S34G |
probably benign |
Het |
| Enpp2 |
C |
A |
15: 54,702,910 (GRCm39) |
W862L |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,119,485 (GRCm39) |
I139V |
probably benign |
Het |
| Fhad1 |
C |
T |
4: 141,691,936 (GRCm39) |
R400H |
probably benign |
Het |
| Fv1 |
C |
T |
4: 147,954,595 (GRCm39) |
T387M |
probably damaging |
Het |
| Gatad1 |
T |
A |
5: 3,693,701 (GRCm39) |
D156V |
probably damaging |
Het |
| Gm4744 |
A |
G |
6: 40,927,367 (GRCm39) |
|
probably benign |
Het |
| Gm4799 |
G |
A |
10: 82,790,469 (GRCm39) |
|
noncoding transcript |
Het |
| Hadha |
A |
G |
5: 30,333,804 (GRCm39) |
F405S |
probably benign |
Het |
| Ifit3 |
T |
C |
19: 34,565,651 (GRCm39) |
V399A |
probably benign |
Het |
| Il1rapl1 |
G |
T |
X: 86,348,469 (GRCm39) |
Y150* |
probably null |
Het |
| Kirrel1 |
T |
C |
3: 86,997,779 (GRCm39) |
E248G |
probably benign |
Het |
| Krt72 |
C |
A |
15: 101,686,769 (GRCm39) |
K392N |
probably damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,444,528 (GRCm39) |
G309D |
probably damaging |
Het |
| Mc3r |
T |
G |
2: 172,091,300 (GRCm39) |
I174S |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,282,273 (GRCm39) |
D52G |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,168,256 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
G |
A |
1: 127,325,378 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
A |
T |
7: 64,039,252 (GRCm39) |
F239L |
probably damaging |
Het |
| Mrps7 |
T |
C |
11: 115,495,023 (GRCm39) |
S13P |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,943,323 (GRCm39) |
T527A |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,046,885 (GRCm39) |
H1156Y |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 68,989,129 (GRCm39) |
E120G |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,779,706 (GRCm39) |
E624G |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,767,079 (GRCm39) |
D99G |
probably null |
Het |
| Or4c102 |
G |
A |
2: 88,422,492 (GRCm39) |
V115I |
possibly damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,539 (GRCm39) |
I45T |
probably damaging |
Het |
| Or52n4b |
G |
A |
7: 108,143,782 (GRCm39) |
V15I |
probably benign |
Het |
| Or5p70 |
A |
C |
7: 107,995,289 (GRCm39) |
K321Q |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,598,146 (GRCm39) |
N802S |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,789,796 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,304,443 (GRCm39) |
I1670N |
possibly damaging |
Het |
| Pld5 |
A |
G |
1: 175,803,087 (GRCm39) |
F393L |
probably benign |
Het |
| Plekhg1 |
C |
A |
10: 3,907,361 (GRCm39) |
D759E |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,277,888 (GRCm39) |
S403P |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,510,503 (GRCm39) |
F432L |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,664,230 (GRCm39) |
I406T |
probably benign |
Het |
| Ptpn5 |
G |
T |
7: 46,739,623 (GRCm39) |
D185E |
probably benign |
Het |
| Rad50 |
G |
T |
11: 53,578,978 (GRCm39) |
Q527K |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,530,507 (GRCm39) |
F613L |
probably benign |
Het |
| Sec16a |
T |
A |
2: 26,330,057 (GRCm39) |
M653L |
probably benign |
Het |
| Sh3bp2 |
T |
C |
5: 34,712,920 (GRCm39) |
|
probably null |
Het |
| Slc22a3 |
G |
A |
17: 12,725,991 (GRCm39) |
T74I |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,932,057 (GRCm39) |
L272P |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,536 (GRCm39) |
D869G |
possibly damaging |
Het |
| Slc5a11 |
T |
A |
7: 122,859,731 (GRCm39) |
V291E |
probably damaging |
Het |
| Slc6a19 |
C |
A |
13: 73,832,167 (GRCm39) |
A470S |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,894,006 (GRCm39) |
S878P |
probably damaging |
Het |
| Smchd1 |
A |
G |
17: 71,672,089 (GRCm39) |
M1655T |
possibly damaging |
Het |
| Srgap2 |
A |
G |
1: 131,220,437 (GRCm39) |
L179P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,622 (GRCm39) |
D191G |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,796,351 (GRCm39) |
Y485H |
probably damaging |
Het |
| Trim12c |
T |
A |
7: 103,990,095 (GRCm39) |
|
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,610,170 (GRCm39) |
T213A |
probably damaging |
Het |
| Upp1 |
T |
A |
11: 9,084,708 (GRCm39) |
|
probably null |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,198 (GRCm39) |
I16L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,814,850 (GRCm39) |
D214E |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,118 (GRCm39) |
Y177N |
probably damaging |
Het |
| Vmn2r99 |
T |
G |
17: 19,582,521 (GRCm39) |
I42S |
possibly damaging |
Het |
| Zeb1 |
A |
T |
18: 5,761,399 (GRCm39) |
K232N |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,875,603 (GRCm39) |
I494T |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,143 (GRCm39) |
D38G |
probably damaging |
Het |
|
| Other mutations in Cacna2d3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Cacna2d3
|
APN |
14 |
29,022,688 (GRCm39) |
splice site |
probably benign |
|
|
IGL01150:Cacna2d3
|
APN |
14 |
28,905,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01390:Cacna2d3
|
APN |
14 |
28,665,548 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01626:Cacna2d3
|
APN |
14 |
28,665,564 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02127:Cacna2d3
|
APN |
14 |
28,785,832 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02237:Cacna2d3
|
APN |
14 |
29,068,954 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02274:Cacna2d3
|
APN |
14 |
28,678,827 (GRCm39) |
splice site |
probably null |
|
|
IGL02604:Cacna2d3
|
APN |
14 |
29,015,066 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02806:Cacna2d3
|
APN |
14 |
29,073,907 (GRCm39) |
splice site |
probably null |
|
|
IGL02838:Cacna2d3
|
APN |
14 |
29,022,785 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02894:Cacna2d3
|
APN |
14 |
28,786,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03061:Cacna2d3
|
APN |
14 |
28,780,388 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03117:Cacna2d3
|
APN |
14 |
29,189,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Cacna2d3
|
APN |
14 |
28,674,243 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03266:Cacna2d3
|
APN |
14 |
29,022,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03396:Cacna2d3
|
APN |
14 |
29,442,834 (GRCm39) |
nonsense |
probably null |
|
|
R0094:Cacna2d3
|
UTSW |
14 |
28,892,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0326:Cacna2d3
|
UTSW |
14 |
28,767,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0485:Cacna2d3
|
UTSW |
14 |
29,256,476 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0669:Cacna2d3
|
UTSW |
14 |
29,189,906 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0730:Cacna2d3
|
UTSW |
14 |
28,704,322 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0736:Cacna2d3
|
UTSW |
14 |
28,780,585 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1073:Cacna2d3
|
UTSW |
14 |
28,767,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1116:Cacna2d3
|
UTSW |
14 |
28,786,278 (GRCm39) |
splice site |
probably benign |
|
|
R1312:Cacna2d3
|
UTSW |
14 |
28,767,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Cacna2d3
|
UTSW |
14 |
29,055,736 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1467:Cacna2d3
|
UTSW |
14 |
29,055,736 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1525:Cacna2d3
|
UTSW |
14 |
28,694,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1574:Cacna2d3
|
UTSW |
14 |
29,073,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Cacna2d3
|
UTSW |
14 |
29,073,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Cacna2d3
|
UTSW |
14 |
28,691,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Cacna2d3
|
UTSW |
14 |
28,627,259 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2981:Cacna2d3
|
UTSW |
14 |
28,785,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3715:Cacna2d3
|
UTSW |
14 |
29,068,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3791:Cacna2d3
|
UTSW |
14 |
28,905,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3847:Cacna2d3
|
UTSW |
14 |
29,069,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3849:Cacna2d3
|
UTSW |
14 |
29,069,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3850:Cacna2d3
|
UTSW |
14 |
29,069,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4558:Cacna2d3
|
UTSW |
14 |
28,825,670 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4594:Cacna2d3
|
UTSW |
14 |
28,704,303 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4681:Cacna2d3
|
UTSW |
14 |
29,015,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Cacna2d3
|
UTSW |
14 |
28,678,743 (GRCm39) |
splice site |
probably null |
|
|
R4965:Cacna2d3
|
UTSW |
14 |
28,704,289 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5133:Cacna2d3
|
UTSW |
14 |
29,015,135 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5311:Cacna2d3
|
UTSW |
14 |
29,068,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5432:Cacna2d3
|
UTSW |
14 |
28,665,512 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5873:Cacna2d3
|
UTSW |
14 |
29,442,891 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6103:Cacna2d3
|
UTSW |
14 |
29,118,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Cacna2d3
|
UTSW |
14 |
28,630,278 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6396:Cacna2d3
|
UTSW |
14 |
29,118,522 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6626:Cacna2d3
|
UTSW |
14 |
28,786,143 (GRCm39) |
unclassified |
probably benign |
|
|
R6632:Cacna2d3
|
UTSW |
14 |
28,627,222 (GRCm39) |
makesense |
probably null |
|
|
R6706:Cacna2d3
|
UTSW |
14 |
28,846,642 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6765:Cacna2d3
|
UTSW |
14 |
28,777,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6945:Cacna2d3
|
UTSW |
14 |
28,691,275 (GRCm39) |
intron |
probably benign |
|
|
R7009:Cacna2d3
|
UTSW |
14 |
28,691,322 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7069:Cacna2d3
|
UTSW |
14 |
28,691,260 (GRCm39) |
intron |
probably benign |
|
|
R7146:Cacna2d3
|
UTSW |
14 |
29,443,654 (GRCm39) |
missense |
unknown |
|
|
R7427:Cacna2d3
|
UTSW |
14 |
28,786,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Cacna2d3
|
UTSW |
14 |
28,786,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7445:Cacna2d3
|
UTSW |
14 |
28,780,575 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7505:Cacna2d3
|
UTSW |
14 |
28,767,501 (GRCm39) |
splice site |
probably null |
|
|
R7560:Cacna2d3
|
UTSW |
14 |
28,780,378 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7703:Cacna2d3
|
UTSW |
14 |
28,765,503 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8042:Cacna2d3
|
UTSW |
14 |
28,826,995 (GRCm39) |
splice site |
probably benign |
|
|
R8096:Cacna2d3
|
UTSW |
14 |
28,825,657 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8280:Cacna2d3
|
UTSW |
14 |
28,704,328 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8814:Cacna2d3
|
UTSW |
14 |
28,819,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Cacna2d3
|
UTSW |
14 |
28,691,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8864:Cacna2d3
|
UTSW |
14 |
29,055,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Cacna2d3
|
UTSW |
14 |
29,068,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9341:Cacna2d3
|
UTSW |
14 |
28,704,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9343:Cacna2d3
|
UTSW |
14 |
28,704,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9567:Cacna2d3
|
UTSW |
14 |
28,627,268 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1088:Cacna2d3
|
UTSW |
14 |
28,786,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cacna2d3
|
UTSW |
14 |
29,069,120 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGGCTCTCCGAACCAAACTATG -3'
(R):5'- AGCGTCCCCTTTGGATGAAACCTG -3'
Sequencing Primer
(F):5'- tctgtctgtctgtctgtctatttg -3'
(R):5'- TGGTACTTGCATCACAGGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation