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 |
alpha 2 delta-3, alpha2delta3 |
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 |
28626900-29443821 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to A
at 28691275 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: 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: 20,218,759 (GRCm39) |
T208S |
probably benign |
Het |
Acaa2 |
A |
G |
18: 74,926,380 (GRCm39) |
E112G |
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,421,873 (GRCm39) |
N881S |
probably damaging |
Het |
Adgre1 |
A |
G |
17: 57,717,844 (GRCm39) |
E314G |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,727,399 (GRCm39) |
E443G |
probably benign |
Het |
Akp3 |
A |
G |
1: 87,053,353 (GRCm39) |
Y102C |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,886,526 (GRCm39) |
N618S |
probably benign |
Het |
Bpifc |
A |
G |
10: 85,815,078 (GRCm39) |
V296A |
probably benign |
Het |
Cacnb4 |
T |
C |
2: 52,364,966 (GRCm39) |
N99S |
probably damaging |
Het |
Cd38 |
A |
G |
5: 44,065,348 (GRCm39) |
Y283C |
probably damaging |
Het |
Celf4 |
T |
A |
18: 25,629,293 (GRCm39) |
Q411L |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,647,755 (GRCm39) |
H108Q |
probably damaging |
Het |
Col23a1 |
A |
G |
11: 51,452,720 (GRCm39) |
E225G |
unknown |
Het |
Dnah11 |
T |
C |
12: 118,024,045 (GRCm39) |
E1902G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,229,571 (GRCm39) |
D2063G |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,823,184 (GRCm39) |
I6306L |
probably benign |
Het |
Furin |
A |
G |
7: 80,040,838 (GRCm39) |
S667P |
possibly damaging |
Het |
Glmp |
T |
A |
3: 88,233,139 (GRCm39) |
S92R |
probably benign |
Het |
Gm11563 |
C |
G |
11: 99,549,298 (GRCm39) |
C152S |
unknown |
Het |
Gm3486 |
A |
G |
14: 41,206,518 (GRCm39) |
V185A |
probably benign |
Het |
Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
Hyal1 |
C |
A |
9: 107,456,369 (GRCm39) |
A102E |
probably damaging |
Het |
Invs |
T |
C |
4: 48,421,785 (GRCm39) |
C806R |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,621,933 (GRCm39) |
V165A |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,120,861 (GRCm39) |
T2666A |
|
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrrc8a |
A |
G |
2: 30,146,239 (GRCm39) |
Y351C |
probably damaging |
Het |
Myh7b |
T |
C |
2: 155,464,152 (GRCm39) |
F551S |
possibly damaging |
Het |
Myo19 |
A |
G |
11: 84,788,386 (GRCm39) |
T333A |
probably benign |
Het |
Nrp2 |
A |
T |
1: 62,799,947 (GRCm39) |
N387I |
probably damaging |
Het |
Oas2 |
T |
C |
5: 120,874,204 (GRCm39) |
D543G |
probably benign |
Het |
Or2g25 |
A |
G |
17: 37,970,405 (GRCm39) |
I273T |
possibly damaging |
Het |
Or5al6 |
A |
G |
2: 85,976,428 (GRCm39) |
S217P |
probably damaging |
Het |
Pak5 |
A |
G |
2: 135,942,859 (GRCm39) |
V427A |
probably benign |
Het |
Pfas |
G |
A |
11: 68,891,356 (GRCm39) |
A247V |
probably benign |
Het |
Pramel52-ps |
C |
T |
5: 94,531,490 (GRCm39) |
H125Y |
possibly damaging |
Het |
Psat1 |
T |
A |
19: 15,894,545 (GRCm39) |
T115S |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,787,437 (GRCm39) |
D1077E |
probably benign |
Het |
Rabgap1l |
A |
G |
1: 160,509,752 (GRCm39) |
S442P |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,822,976 (GRCm39) |
M280T |
possibly damaging |
Het |
Rb1cc1 |
A |
T |
1: 6,331,256 (GRCm39) |
E394D |
probably damaging |
Het |
Seh1l |
T |
C |
18: 67,922,460 (GRCm39) |
V271A |
probably benign |
Het |
Sf3b1 |
A |
T |
1: 55,036,315 (GRCm39) |
N919K |
probably benign |
Het |
Sftpd |
A |
G |
14: 40,896,449 (GRCm39) |
S245P |
possibly damaging |
Het |
Slc22a15 |
T |
C |
3: 101,831,430 (GRCm39) |
E2G |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,036,891 (GRCm39) |
D1134G |
possibly damaging |
Het |
Syna |
A |
G |
5: 134,587,815 (GRCm39) |
V378A |
probably damaging |
Het |
Tchp |
A |
G |
5: 114,847,411 (GRCm39) |
K77E |
possibly damaging |
Het |
Tescl |
T |
C |
7: 24,032,956 (GRCm39) |
N123S |
probably benign |
Het |
Trio |
C |
T |
15: 27,824,176 (GRCm39) |
R1443Q |
probably damaging |
Het |
Trrap |
A |
T |
5: 144,727,665 (GRCm39) |
Y462F |
possibly damaging |
Het |
Vmn1r78 |
A |
G |
7: 11,886,832 (GRCm39) |
T148A |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Zfp1007 |
A |
C |
5: 109,824,711 (GRCm39) |
N246K |
probably benign |
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 |
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'- CCTGGTCAGTTCAGGCTTGTATC -3'
(R):5'- TTGTGGAGACATCCCCATCTG -3'
Sequencing Primer
(F):5'- CTTACTTAGGTAAACTGAGAGCACC -3'
(R):5'- GAGACATCCCCATCTGCTCACTG -3'
|
Posted On |
2018-11-28 |