Incidental Mutation 'R4868:Cacna2d3'
| ID |
376356 |
| 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 |
042478-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 28678743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
[ENSMUST00000225668]
[ENSMUST00000225985]
|
| AlphaFold |
Q9Z1L5 |
| Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000225668
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225985
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
99% (91/92) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,729 (GRCm39) |
*299W |
probably null |
Het |
| 4933412E24Rik |
G |
A |
15: 59,887,817 (GRCm39) |
L208F |
possibly damaging |
Het |
| Abca8b |
G |
A |
11: 109,865,338 (GRCm39) |
A373V |
probably benign |
Het |
| Actn3 |
A |
T |
19: 4,914,482 (GRCm39) |
W549R |
probably benign |
Het |
| Adamts4 |
C |
T |
1: 171,080,000 (GRCm39) |
|
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,011,179 (GRCm39) |
I615V |
probably benign |
Het |
| Akap1 |
A |
G |
11: 88,735,379 (GRCm39) |
S428P |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,393,252 (GRCm39) |
R2476W |
probably damaging |
Het |
| Alx3 |
A |
G |
3: 107,507,943 (GRCm39) |
S151G |
possibly damaging |
Het |
| Aoah |
T |
A |
13: 21,099,151 (GRCm39) |
Y243* |
probably null |
Het |
| Asap1 |
A |
G |
15: 63,966,030 (GRCm39) |
V1025A |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,684,937 (GRCm39) |
I728N |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,755,226 (GRCm39) |
V1001L |
possibly damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,909,615 (GRCm39) |
S1030T |
probably benign |
Het |
| Casp3 |
A |
T |
8: 47,087,314 (GRCm39) |
N87I |
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,612,569 (GRCm39) |
L995Q |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,924,776 (GRCm39) |
Y637N |
probably damaging |
Het |
| Ccr4 |
A |
G |
9: 114,321,901 (GRCm39) |
F55L |
probably benign |
Het |
| Cmah |
T |
A |
13: 24,648,247 (GRCm39) |
V494E |
probably damaging |
Het |
| Cnot6l |
A |
G |
5: 96,230,882 (GRCm39) |
Y362H |
probably damaging |
Het |
| Coq6 |
T |
C |
12: 84,417,726 (GRCm39) |
V222A |
probably damaging |
Het |
| Ctdspl2 |
C |
A |
2: 121,823,879 (GRCm39) |
T240N |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,754 (GRCm39) |
T248A |
possibly damaging |
Het |
| Dctn6 |
A |
T |
8: 34,559,230 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
T |
C |
7: 15,933,727 (GRCm39) |
D955G |
probably benign |
Het |
| Dnaaf5 |
A |
G |
5: 139,155,941 (GRCm39) |
M541V |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,999,038 (GRCm39) |
S912T |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,354,474 (GRCm39) |
V2248E |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,156,675 (GRCm39) |
W1502R |
probably damaging |
Het |
| Dzip1 |
A |
T |
14: 119,114,626 (GRCm39) |
V843E |
probably damaging |
Het |
| Esp23 |
G |
T |
17: 39,384,915 (GRCm39) |
T27K |
probably benign |
Het |
| Esp3 |
A |
T |
17: 40,944,420 (GRCm39) |
M21L |
possibly damaging |
Het |
| Fam43b |
T |
A |
4: 138,123,108 (GRCm39) |
T71S |
probably benign |
Het |
| Fpgs |
G |
A |
2: 32,582,673 (GRCm39) |
R63C |
probably damaging |
Het |
| H2-M11 |
G |
T |
17: 36,859,811 (GRCm39) |
W268L |
probably damaging |
Het |
| Inpp5b |
T |
C |
4: 124,645,203 (GRCm39) |
S210P |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,582,205 (GRCm39) |
S51T |
probably damaging |
Het |
| Kctd2 |
G |
A |
11: 115,320,205 (GRCm39) |
V246I |
probably damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,556 (GRCm39) |
G403E |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,520,040 (GRCm39) |
T48S |
probably benign |
Het |
| Lyzl4 |
C |
A |
9: 121,412,075 (GRCm39) |
V114L |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 52,011,345 (GRCm39) |
E74* |
probably null |
Het |
| Map2k7 |
G |
A |
8: 4,297,751 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip3 |
A |
G |
17: 25,120,389 (GRCm39) |
V883A |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 120,235,667 (GRCm39) |
V1004I |
probably benign |
Het |
| Metap1 |
G |
T |
3: 138,188,850 (GRCm39) |
H48Q |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,917,831 (GRCm39) |
V396E |
probably damaging |
Het |
| Mks1 |
T |
A |
11: 87,744,549 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,828,548 (GRCm39) |
T669A |
probably benign |
Het |
| Obox3 |
T |
C |
7: 15,361,235 (GRCm39) |
K10R |
probably damaging |
Het |
| Opn3 |
T |
C |
1: 175,491,127 (GRCm39) |
Y302C |
probably damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,916 (GRCm39) |
S207T |
probably damaging |
Het |
| Or6b6 |
C |
T |
7: 106,570,974 (GRCm39) |
M192I |
probably benign |
Het |
| Or9g8 |
T |
G |
2: 85,606,970 (GRCm39) |
V14G |
possibly damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,751 (GRCm39) |
V177D |
probably benign |
Het |
| Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
| Pmpcb |
T |
A |
5: 21,953,851 (GRCm39) |
Y366* |
probably null |
Het |
| Prr14l |
A |
T |
5: 32,987,281 (GRCm39) |
M738K |
probably benign |
Het |
| Prx |
T |
C |
7: 27,217,004 (GRCm39) |
S641P |
probably benign |
Het |
| Ptchd3 |
A |
G |
11: 121,721,883 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Reg3a |
A |
G |
6: 78,358,883 (GRCm39) |
E27G |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,878,124 (GRCm39) |
T300A |
possibly damaging |
Het |
| Sdf4 |
T |
A |
4: 156,093,642 (GRCm39) |
S259T |
probably damaging |
Het |
| Sike1 |
A |
G |
3: 102,904,730 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
G |
3: 72,850,881 (GRCm39) |
I606L |
probably benign |
Het |
| Slc30a9 |
T |
C |
5: 67,482,026 (GRCm39) |
I94T |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,014,065 (GRCm39) |
I424T |
probably damaging |
Het |
| Spx |
C |
T |
6: 142,362,116 (GRCm39) |
R72* |
probably null |
Het |
| St7 |
C |
A |
6: 17,819,265 (GRCm39) |
N56K |
probably damaging |
Het |
| Tcte2 |
C |
A |
17: 13,948,270 (GRCm39) |
G3V |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,213,393 (GRCm39) |
|
probably null |
Het |
| Tgfb3 |
T |
C |
12: 86,108,955 (GRCm39) |
D258G |
probably benign |
Het |
| Timeless |
G |
T |
10: 128,083,230 (GRCm39) |
G659V |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,958,443 (GRCm39) |
R467G |
possibly damaging |
Het |
| Tor1b |
T |
C |
2: 30,846,589 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,194,709 (GRCm39) |
L911Q |
probably damaging |
Het |
| Ttll2 |
C |
T |
17: 7,618,998 (GRCm39) |
V310I |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,615,221 (GRCm39) |
I389N |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,406,417 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,536,488 (GRCm39) |
V216A |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,965,520 (GRCm39) |
V254E |
probably damaging |
Het |
| Vmn1r122 |
T |
C |
7: 20,867,227 (GRCm39) |
E276G |
probably benign |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,161 (GRCm39) |
N285I |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,484,480 (GRCm39) |
I442F |
probably benign |
Het |
| Vwa8 |
C |
A |
14: 79,420,522 (GRCm39) |
A1741E |
probably damaging |
Het |
| Wdr20 |
T |
A |
12: 110,704,668 (GRCm39) |
V69E |
probably damaging |
Het |
| Xkr4 |
T |
G |
1: 3,287,074 (GRCm39) |
Q372P |
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 |
|
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'- ATCCATCTAAGAGCCTGACCTG -3'
(R):5'- AGCCTCGTTCTGTTGTGACTATAG -3'
Sequencing Primer
(F):5'- GAGCCTGACCTGATTTTTAACTTAC -3'
(R):5'- GACTATAGCTCATGTTGCTAGTGAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation