Incidental Mutation 'R7069:Cacna2d3'
ID |
548785 |
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 |
045165-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7069 (G1)
|
Quality Score |
221.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 28691260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022567
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
[ENSMUST00000225668]
[ENSMUST00000225985]
|
AlphaFold |
Q9Z1L5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022567
|
SMART Domains |
Protein: ENSMUSP00000022567 Gene: ENSMUSG00000021991
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000225668
AA Change: T22S
|
Predicted Effect |
unknown
Transcript: ENSMUST00000225985
AA Change: T22S
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (86/88) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
A |
5: 77,024,203 (GRCm39) |
I991L |
probably benign |
Het |
Abtb3 |
C |
A |
10: 85,223,520 (GRCm39) |
R110S |
unknown |
Het |
Actg2 |
C |
A |
6: 83,497,745 (GRCm39) |
G96V |
probably damaging |
Het |
Adh5 |
T |
A |
3: 138,156,812 (GRCm39) |
L166* |
probably null |
Het |
Akap13 |
A |
G |
7: 75,260,010 (GRCm39) |
D75G |
probably benign |
Het |
Ank2 |
T |
C |
3: 126,739,947 (GRCm39) |
|
probably benign |
Het |
Arfgap1 |
T |
A |
2: 180,615,913 (GRCm39) |
D197E |
probably benign |
Het |
Aste1 |
T |
C |
9: 105,273,906 (GRCm39) |
|
probably null |
Het |
Atp8b2 |
T |
A |
3: 89,861,878 (GRCm39) |
N78I |
probably damaging |
Het |
Chrd |
T |
A |
16: 20,558,183 (GRCm39) |
W809R |
probably damaging |
Het |
Col2a1 |
C |
T |
15: 97,896,469 (GRCm39) |
G60D |
unknown |
Het |
Coro7 |
T |
A |
16: 4,497,475 (GRCm39) |
M1L |
probably damaging |
Het |
Cracdl |
A |
T |
1: 37,670,982 (GRCm39) |
F97Y |
probably damaging |
Het |
Dhx40 |
T |
C |
11: 86,688,569 (GRCm39) |
I285V |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,432,222 (GRCm39) |
|
probably null |
Het |
Enox1 |
A |
T |
14: 77,848,764 (GRCm39) |
R358S |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,815,990 (GRCm39) |
V2724A |
probably damaging |
Het |
Fam221a |
A |
C |
6: 49,355,432 (GRCm39) |
Q178P |
probably damaging |
Het |
Fcho1 |
A |
C |
8: 72,163,141 (GRCm39) |
|
probably null |
Het |
Fndc1 |
A |
T |
17: 7,988,567 (GRCm39) |
V1165D |
unknown |
Het |
Gal3st2b |
A |
T |
1: 93,868,341 (GRCm39) |
N189Y |
possibly damaging |
Het |
Ghr |
T |
A |
15: 3,349,966 (GRCm39) |
D404V |
probably damaging |
Het |
Glis3 |
A |
T |
19: 28,508,919 (GRCm39) |
V355D |
probably damaging |
Het |
Gpr12 |
A |
C |
5: 146,520,349 (GRCm39) |
V32G |
possibly damaging |
Het |
Gspt1 |
T |
A |
16: 11,040,525 (GRCm39) |
L593F |
probably damaging |
Het |
H2-Q7 |
A |
T |
17: 35,659,007 (GRCm39) |
T153S |
probably damaging |
Het |
Hars2 |
A |
G |
18: 36,921,009 (GRCm39) |
I194V |
probably damaging |
Het |
Hdac9 |
T |
A |
12: 34,479,548 (GRCm39) |
T202S |
possibly damaging |
Het |
Hoxd13 |
T |
C |
2: 74,499,368 (GRCm39) |
Y239H |
probably damaging |
Het |
Insm2 |
C |
T |
12: 55,646,621 (GRCm39) |
Q122* |
probably null |
Het |
Insyn2b |
T |
A |
11: 34,352,677 (GRCm39) |
C240S |
possibly damaging |
Het |
Ip6k1 |
T |
A |
9: 107,922,651 (GRCm39) |
|
probably null |
Het |
Ippk |
T |
C |
13: 49,615,219 (GRCm39) |
V534A |
probably damaging |
Het |
Itch |
T |
G |
2: 155,051,914 (GRCm39) |
F611C |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,104,776 (GRCm39) |
N1083K |
probably damaging |
Het |
Itgae |
A |
C |
11: 73,006,969 (GRCm39) |
D405A |
probably damaging |
Het |
Kif18a |
T |
C |
2: 109,125,347 (GRCm39) |
S255P |
probably damaging |
Het |
Klhl24 |
C |
G |
16: 19,926,231 (GRCm39) |
T253R |
probably benign |
Het |
Krt81 |
T |
A |
15: 101,358,609 (GRCm39) |
T307S |
possibly damaging |
Het |
Lbr |
A |
T |
1: 181,656,354 (GRCm39) |
W265R |
probably damaging |
Het |
Lgals3bp |
T |
C |
11: 118,283,999 (GRCm39) |
T527A |
probably benign |
Het |
Lzts1 |
A |
C |
8: 69,593,397 (GRCm39) |
V70G |
probably damaging |
Het |
Map3k6 |
C |
T |
4: 132,979,023 (GRCm39) |
P1154S |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,271,205 (GRCm39) |
D681G |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,533,526 (GRCm39) |
N948D |
probably benign |
Het |
Mettl4 |
A |
T |
17: 95,041,061 (GRCm39) |
F364L |
probably damaging |
Het |
Mosmo |
T |
C |
7: 120,277,055 (GRCm39) |
I23T |
probably benign |
Het |
Mtg1 |
G |
A |
7: 139,723,657 (GRCm39) |
V96I |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,036,803 (GRCm39) |
R966S |
possibly damaging |
Het |
Ncapg2 |
A |
G |
12: 116,388,337 (GRCm39) |
|
probably null |
Het |
Nid1 |
G |
A |
13: 13,683,353 (GRCm39) |
V1144I |
probably benign |
Het |
Or4a77 |
T |
C |
2: 89,486,910 (GRCm39) |
I292V |
probably benign |
Het |
Or52a33 |
A |
T |
7: 103,289,167 (GRCm39) |
M60K |
probably damaging |
Het |
Or55b4 |
C |
A |
7: 102,133,979 (GRCm39) |
C116F |
possibly damaging |
Het |
Oscar |
T |
G |
7: 3,614,238 (GRCm39) |
Y167S |
probably damaging |
Het |
Pa2g4 |
T |
C |
10: 128,396,559 (GRCm39) |
T200A |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,877,126 (GRCm39) |
D227G |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Plce1 |
G |
A |
19: 38,747,384 (GRCm39) |
G1702R |
probably damaging |
Het |
Plxna2 |
C |
A |
1: 194,476,212 (GRCm39) |
T1144K |
possibly damaging |
Het |
Prl8a8 |
G |
A |
13: 27,695,450 (GRCm39) |
T99I |
probably benign |
Het |
Prr29 |
C |
A |
11: 106,267,085 (GRCm39) |
H83Q |
probably damaging |
Het |
Raly |
T |
A |
2: 154,701,664 (GRCm39) |
I108N |
possibly damaging |
Het |
Ranbp9 |
A |
T |
13: 43,573,098 (GRCm39) |
S475R |
probably benign |
Het |
Rogdi |
C |
A |
16: 4,831,362 (GRCm39) |
|
probably benign |
Het |
Rorc |
C |
T |
3: 94,280,214 (GRCm39) |
Q6* |
probably null |
Het |
Sacs |
T |
C |
14: 61,449,945 (GRCm39) |
L3997S |
probably damaging |
Het |
Scn2a |
A |
T |
2: 65,594,950 (GRCm39) |
Y1933F |
probably benign |
Het |
Sik3 |
T |
C |
9: 46,122,041 (GRCm39) |
L898P |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,388,180 (GRCm39) |
I135M |
probably damaging |
Het |
Slc26a3 |
C |
A |
12: 31,500,934 (GRCm39) |
Q224K |
probably damaging |
Het |
Sobp |
G |
T |
10: 42,897,436 (GRCm39) |
N716K |
probably benign |
Het |
Spata16 |
A |
G |
3: 26,981,483 (GRCm39) |
D513G |
probably damaging |
Het |
Spata31h1 |
G |
A |
10: 82,125,777 (GRCm39) |
T2411I |
probably damaging |
Het |
Speer4a3 |
A |
T |
5: 26,154,842 (GRCm39) |
S253T |
possibly damaging |
Het |
Stac |
T |
C |
9: 111,401,394 (GRCm39) |
R351G |
possibly damaging |
Het |
Tecta |
T |
A |
9: 42,306,237 (GRCm39) |
T64S |
probably benign |
Het |
Tert |
G |
A |
13: 73,776,529 (GRCm39) |
V427M |
probably damaging |
Het |
Tex15 |
G |
A |
8: 34,060,748 (GRCm39) |
M333I |
probably benign |
Het |
Tmbim4 |
A |
T |
10: 120,056,664 (GRCm39) |
Q72L |
probably benign |
Het |
Trav9n-4 |
T |
C |
14: 53,532,256 (GRCm39) |
S37P |
probably benign |
Het |
Trpv5 |
A |
T |
6: 41,652,894 (GRCm39) |
M93K |
possibly damaging |
Het |
Ulk4 |
T |
C |
9: 121,087,876 (GRCm39) |
E272G |
probably benign |
Het |
Ulk4 |
T |
C |
9: 121,095,583 (GRCm39) |
T79A |
probably benign |
Het |
Upb1 |
A |
G |
10: 75,248,602 (GRCm39) |
N41D |
probably benign |
Het |
Wls |
A |
T |
3: 159,639,965 (GRCm39) |
Y532F |
probably damaging |
Het |
Zdhhc5 |
G |
A |
2: 84,545,355 (GRCm39) |
|
probably benign |
Het |
Zfp109 |
T |
C |
7: 23,928,785 (GRCm39) |
D216G |
probably benign |
Het |
Zfp473 |
G |
A |
7: 44,381,798 (GRCm39) |
A845V |
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 |
R1501:Cacna2d3
|
UTSW |
14 |
28,703,137 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- GATTGGCTCCTGGTCAGTTCAG -3'
(R):5'- GGTTTTGTAACCCCACAGCTG -3'
Sequencing Primer
(F):5'- CTTACTTAGGTAAACTGAGAGCACC -3'
(R):5'- ACAGCTGCTGTGACTGTTTCAG -3'
|
Posted On |
2019-05-13 |