Incidental Mutation 'R6945:Cacna2d3'
| ID |
540854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna2d3
|
| Ensembl Gene |
ENSMUSG00000021991 |
| Gene Name |
calcium channel, voltage-dependent, alpha2/delta subunit 3 |
| Synonyms |
alpha2delta3, alpha 2 delta-3 |
| MMRRC Submission |
045059-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6945 (G1)
|
| Quality Score |
143.008 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
28904943-29721864 bp(-) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 28969318 bp (GRCm38)
|
| 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: H17Y
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000225985
AA Change: H17Y
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
96% (51/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
A |
16: 20,400,009 (GRCm38) |
T208S |
probably benign |
Het |
| Acaa2 |
A |
G |
18: 74,793,309 (GRCm38) |
E112G |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,550,024 (GRCm38) |
N881S |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,420,399 (GRCm38) |
E443G |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,410,844 (GRCm38) |
E314G |
probably benign |
Het |
| Akp3 |
A |
G |
1: 87,125,631 (GRCm38) |
Y102C |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,579,531 (GRCm38) |
N618S |
probably benign |
Het |
| Bpifc |
A |
G |
10: 85,979,214 (GRCm38) |
V296A |
probably benign |
Het |
| Cacnb4 |
T |
C |
2: 52,474,954 (GRCm38) |
N99S |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 43,908,006 (GRCm38) |
Y283C |
probably damaging |
Het |
| Celf4 |
T |
A |
18: 25,496,236 (GRCm38) |
Q411L |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,998,547 (GRCm38) |
H108Q |
probably damaging |
Het |
| Col23a1 |
A |
G |
11: 51,561,893 (GRCm38) |
E225G |
unknown |
Het |
| Dnah11 |
T |
C |
12: 118,060,310 (GRCm38) |
E1902G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,190,490 (GRCm38) |
D2063G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,992,840 (GRCm38) |
I6306L |
probably benign |
Het |
| Furin |
A |
G |
7: 80,391,090 (GRCm38) |
S667P |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,325,832 (GRCm38) |
S92R |
probably benign |
Het |
| Gm11563 |
C |
G |
11: 99,658,472 (GRCm38) |
C152S |
unknown |
Het |
| Gm3486 |
A |
G |
14: 41,484,561 (GRCm38) |
V185A |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,901,980 (GRCm38) |
Q622* |
probably null |
Het |
| Hyal1 |
C |
A |
9: 107,579,170 (GRCm38) |
A102E |
probably damaging |
Het |
| Invs |
T |
C |
4: 48,421,785 (GRCm38) |
C806R |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,733,696 (GRCm38) |
V165A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 67,813,866 (GRCm38) |
T2666A |
|
Het |
| Lrit1 |
G |
C |
14: 37,060,095 (GRCm38) |
V242L |
probably damaging |
Het |
| Lrrc8a |
A |
G |
2: 30,256,227 (GRCm38) |
Y351C |
probably damaging |
Het |
| Myh7b |
T |
C |
2: 155,622,232 (GRCm38) |
F551S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,897,560 (GRCm38) |
T333A |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,760,788 (GRCm38) |
N387I |
probably damaging |
Het |
| Oas2 |
T |
C |
5: 120,736,139 (GRCm38) |
D543G |
probably benign |
Het |
| Or2g25 |
A |
G |
17: 37,659,514 (GRCm38) |
I273T |
possibly damaging |
Het |
| Or5al6 |
A |
G |
2: 86,146,084 (GRCm38) |
S217P |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 136,100,939 (GRCm38) |
V427A |
probably benign |
Het |
| Pfas |
G |
A |
11: 69,000,530 (GRCm38) |
A247V |
probably benign |
Het |
| Pramel52-ps |
C |
T |
5: 94,383,631 (GRCm38) |
H125Y |
possibly damaging |
Het |
| Psat1 |
T |
A |
19: 15,917,181 (GRCm38) |
T115S |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,837,437 (GRCm38) |
D1077E |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,682,182 (GRCm38) |
S442P |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,776,191 (GRCm38) |
M280T |
possibly damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,261,032 (GRCm38) |
E394D |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,789,390 (GRCm38) |
V271A |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 54,997,156 (GRCm38) |
N919K |
probably benign |
Het |
| Sftpd |
A |
G |
14: 41,174,492 (GRCm38) |
S245P |
possibly damaging |
Het |
| Slc22a15 |
T |
C |
3: 101,924,114 (GRCm38) |
E2G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,209,325 (GRCm38) |
D1134G |
possibly damaging |
Het |
| Syna |
A |
G |
5: 134,558,961 (GRCm38) |
V378A |
probably damaging |
Het |
| Tchp |
A |
G |
5: 114,709,350 (GRCm38) |
K77E |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,333,531 (GRCm38) |
N123S |
probably benign |
Het |
| Trio |
C |
T |
15: 27,824,090 (GRCm38) |
R1443Q |
probably damaging |
Het |
| Trrap |
A |
T |
5: 144,790,855 (GRCm38) |
Y462F |
possibly damaging |
Het |
| Vmn1r78 |
A |
G |
7: 12,152,905 (GRCm38) |
T148A |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 (GRCm38) |
N549S |
possibly damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,676,845 (GRCm38) |
N246K |
probably benign |
Het |
|
| Other mutations in Cacna2d3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Cacna2d3
|
APN |
14 |
29,300,731 (GRCm38) |
splice site |
probably benign |
|
|
IGL01150:Cacna2d3
|
APN |
14 |
29,183,641 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01390:Cacna2d3
|
APN |
14 |
28,943,591 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01626:Cacna2d3
|
APN |
14 |
28,943,607 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02127:Cacna2d3
|
APN |
14 |
29,063,875 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02237:Cacna2d3
|
APN |
14 |
29,346,997 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02274:Cacna2d3
|
APN |
14 |
28,956,870 (GRCm38) |
splice site |
probably null |
|
|
IGL02604:Cacna2d3
|
APN |
14 |
29,293,109 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL02806:Cacna2d3
|
APN |
14 |
29,351,950 (GRCm38) |
splice site |
probably null |
|
|
IGL02838:Cacna2d3
|
APN |
14 |
29,300,828 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02894:Cacna2d3
|
APN |
14 |
29,064,319 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL03061:Cacna2d3
|
APN |
14 |
29,058,431 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03117:Cacna2d3
|
APN |
14 |
29,467,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03265:Cacna2d3
|
APN |
14 |
28,952,286 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03266:Cacna2d3
|
APN |
14 |
29,300,748 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03396:Cacna2d3
|
APN |
14 |
29,720,877 (GRCm38) |
nonsense |
probably null |
|
|
R0094:Cacna2d3
|
UTSW |
14 |
29,170,503 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0326:Cacna2d3
|
UTSW |
14 |
29,045,644 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0485:Cacna2d3
|
UTSW |
14 |
29,534,519 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0669:Cacna2d3
|
UTSW |
14 |
29,467,949 (GRCm38) |
missense |
probably benign |
0.40 |
|
R0730:Cacna2d3
|
UTSW |
14 |
28,982,365 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0736:Cacna2d3
|
UTSW |
14 |
29,058,628 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1073:Cacna2d3
|
UTSW |
14 |
29,045,623 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1116:Cacna2d3
|
UTSW |
14 |
29,064,321 (GRCm38) |
splice site |
probably benign |
|
|
R1312:Cacna2d3
|
UTSW |
14 |
29,045,668 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1467:Cacna2d3
|
UTSW |
14 |
29,333,779 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1467:Cacna2d3
|
UTSW |
14 |
29,333,779 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1501:Cacna2d3
|
UTSW |
14 |
28,981,180 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1525:Cacna2d3
|
UTSW |
14 |
28,972,242 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1574:Cacna2d3
|
UTSW |
14 |
29,351,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1574:Cacna2d3
|
UTSW |
14 |
29,351,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1866:Cacna2d3
|
UTSW |
14 |
28,969,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2403:Cacna2d3
|
UTSW |
14 |
28,905,302 (GRCm38) |
missense |
probably benign |
0.38 |
|
R2981:Cacna2d3
|
UTSW |
14 |
29,063,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3715:Cacna2d3
|
UTSW |
14 |
29,346,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3791:Cacna2d3
|
UTSW |
14 |
29,183,581 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3847:Cacna2d3
|
UTSW |
14 |
29,347,120 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3849:Cacna2d3
|
UTSW |
14 |
29,347,120 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3850:Cacna2d3
|
UTSW |
14 |
29,347,120 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4558:Cacna2d3
|
UTSW |
14 |
29,103,713 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4594:Cacna2d3
|
UTSW |
14 |
28,982,346 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4681:Cacna2d3
|
UTSW |
14 |
29,293,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4868:Cacna2d3
|
UTSW |
14 |
28,956,786 (GRCm38) |
splice site |
probably null |
|
|
R4965:Cacna2d3
|
UTSW |
14 |
28,982,332 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5133:Cacna2d3
|
UTSW |
14 |
29,293,178 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5311:Cacna2d3
|
UTSW |
14 |
29,347,030 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5432:Cacna2d3
|
UTSW |
14 |
28,943,555 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5873:Cacna2d3
|
UTSW |
14 |
29,720,934 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6103:Cacna2d3
|
UTSW |
14 |
29,396,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6197:Cacna2d3
|
UTSW |
14 |
28,908,321 (GRCm38) |
missense |
probably benign |
0.38 |
|
R6396:Cacna2d3
|
UTSW |
14 |
29,396,565 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6626:Cacna2d3
|
UTSW |
14 |
29,064,186 (GRCm38) |
unclassified |
probably benign |
|
|
R6632:Cacna2d3
|
UTSW |
14 |
28,905,265 (GRCm38) |
makesense |
probably null |
|
|
R6706:Cacna2d3
|
UTSW |
14 |
29,124,685 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6765:Cacna2d3
|
UTSW |
14 |
29,055,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7009:Cacna2d3
|
UTSW |
14 |
28,969,365 (GRCm38) |
start codon destroyed |
probably null |
|
|
R7069:Cacna2d3
|
UTSW |
14 |
28,969,303 (GRCm38) |
intron |
probably benign |
|
|
R7146:Cacna2d3
|
UTSW |
14 |
29,721,697 (GRCm38) |
missense |
unknown |
|
|
R7427:Cacna2d3
|
UTSW |
14 |
29,064,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7428:Cacna2d3
|
UTSW |
14 |
29,064,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7445:Cacna2d3
|
UTSW |
14 |
29,058,618 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7505:Cacna2d3
|
UTSW |
14 |
29,045,544 (GRCm38) |
splice site |
probably null |
|
|
R7560:Cacna2d3
|
UTSW |
14 |
29,058,421 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7703:Cacna2d3
|
UTSW |
14 |
29,043,546 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8042:Cacna2d3
|
UTSW |
14 |
29,105,038 (GRCm38) |
splice site |
probably benign |
|
|
R8096:Cacna2d3
|
UTSW |
14 |
29,103,700 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8280:Cacna2d3
|
UTSW |
14 |
28,982,371 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8814:Cacna2d3
|
UTSW |
14 |
29,097,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8838:Cacna2d3
|
UTSW |
14 |
28,969,263 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8864:Cacna2d3
|
UTSW |
14 |
29,333,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9103:Cacna2d3
|
UTSW |
14 |
29,347,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9341:Cacna2d3
|
UTSW |
14 |
28,982,358 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9343:Cacna2d3
|
UTSW |
14 |
28,982,358 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9567:Cacna2d3
|
UTSW |
14 |
28,905,311 (GRCm38) |
missense |
probably benign |
0.38 |
|
Z1088:Cacna2d3
|
UTSW |
14 |
29,064,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Cacna2d3
|
UTSW |
14 |
29,347,163 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGTCAGTTCAGGCTTGTATC -3'
(R):5'- TTGTGGAGACATCCCCATCTG -3'
Sequencing Primer
(F):5'- CTTACTTAGGTAAACTGAGAGCACC -3'
(R):5'- GAGACATCCCCATCTGCTCACTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation