Incidental Mutation 'R5432:Cacna2d3'
ID |
428115 |
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 |
042997-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5432 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to C
at 28665512 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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdhppt |
G |
A |
9: 4,309,349 (GRCm39) |
R30* |
probably null |
Het |
Abca9 |
G |
A |
11: 110,032,380 (GRCm39) |
R746W |
possibly damaging |
Het |
Akap13 |
A |
G |
7: 75,252,578 (GRCm39) |
E236G |
probably damaging |
Het |
Asb4 |
A |
C |
6: 5,430,912 (GRCm39) |
R382S |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,178,814 (GRCm39) |
S2458P |
probably benign |
Het |
Bspry |
T |
C |
4: 62,400,952 (GRCm39) |
V148A |
probably benign |
Het |
Cblb |
T |
A |
16: 51,963,228 (GRCm39) |
H390Q |
probably damaging |
Het |
Cct8l1 |
T |
C |
5: 25,721,305 (GRCm39) |
S7P |
possibly damaging |
Het |
Cep295 |
T |
C |
9: 15,262,991 (GRCm39) |
T191A |
possibly damaging |
Het |
Cts8 |
A |
C |
13: 61,398,826 (GRCm39) |
F227V |
probably benign |
Het |
Elac1 |
T |
C |
18: 73,875,864 (GRCm39) |
T56A |
possibly damaging |
Het |
Fjx1 |
T |
C |
2: 102,280,864 (GRCm39) |
N357S |
possibly damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,069 (GRCm39) |
T453A |
probably damaging |
Het |
Hcls1 |
G |
A |
16: 36,781,910 (GRCm39) |
E340K |
probably benign |
Het |
Hrc |
C |
A |
7: 44,986,285 (GRCm39) |
H479N |
possibly damaging |
Het |
Ikzf4 |
A |
G |
10: 128,470,047 (GRCm39) |
V491A |
probably damaging |
Het |
Kalrn |
A |
G |
16: 33,873,992 (GRCm39) |
S138P |
probably damaging |
Het |
Lama3 |
G |
T |
18: 12,705,123 (GRCm39) |
D3062Y |
probably damaging |
Het |
Lcor |
A |
G |
19: 41,573,042 (GRCm39) |
E599G |
probably damaging |
Het |
Llgl1 |
T |
C |
11: 60,598,449 (GRCm39) |
S442P |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,353,129 (GRCm39) |
K1517* |
probably null |
Het |
Myo9a |
A |
T |
9: 59,772,953 (GRCm39) |
Y995F |
possibly damaging |
Het |
Nek3 |
A |
C |
8: 22,638,748 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
G |
14: 56,101,923 (GRCm39) |
T531A |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2m12 |
A |
T |
16: 19,104,839 (GRCm39) |
I218N |
probably benign |
Het |
Pdia4 |
A |
G |
6: 47,775,400 (GRCm39) |
V470A |
possibly damaging |
Het |
Pinlyp |
T |
C |
7: 24,241,892 (GRCm39) |
D105G |
probably damaging |
Het |
Pla2g6 |
A |
G |
15: 79,186,817 (GRCm39) |
|
probably null |
Het |
Plpp7 |
A |
G |
2: 31,985,932 (GRCm39) |
S37G |
probably benign |
Het |
Prdm11 |
G |
T |
2: 92,806,158 (GRCm39) |
P264Q |
probably benign |
Het |
Rbl2 |
G |
T |
8: 91,828,911 (GRCm39) |
R604L |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,500,584 (GRCm39) |
T115A |
probably benign |
Het |
Samd4 |
A |
G |
14: 47,311,519 (GRCm39) |
Q279R |
probably benign |
Het |
Sdha |
G |
T |
13: 74,475,068 (GRCm39) |
A591D |
probably damaging |
Het |
Secisbp2 |
AAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCA |
13: 51,828,002 (GRCm39) |
|
probably benign |
Het |
Sephs2 |
G |
A |
7: 126,872,977 (GRCm39) |
R39W |
probably damaging |
Het |
Serpina3f |
T |
C |
12: 104,186,577 (GRCm39) |
I381T |
possibly damaging |
Het |
Shd |
A |
T |
17: 56,283,214 (GRCm39) |
Q281L |
probably damaging |
Het |
Sik3 |
A |
G |
9: 46,034,539 (GRCm39) |
S98G |
probably benign |
Het |
Srgap1 |
T |
A |
10: 121,705,728 (GRCm39) |
N232I |
probably damaging |
Het |
Thbs1 |
A |
T |
2: 117,945,164 (GRCm39) |
N246Y |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,368,022 (GRCm39) |
|
probably null |
Het |
Vwde |
A |
G |
6: 13,190,591 (GRCm39) |
M500T |
probably damaging |
Het |
Wdr72 |
T |
G |
9: 74,183,228 (GRCm39) |
S1053R |
probably damaging |
Het |
Yif1b |
T |
C |
7: 28,945,393 (GRCm39) |
C192R |
probably damaging |
Het |
Zc3h13 |
A |
G |
14: 75,568,687 (GRCm39) |
S1327G |
probably damaging |
Het |
Zfp1004 |
A |
G |
2: 150,033,901 (GRCm39) |
N74S |
possibly 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 |
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'- ACTAAACTCTTCTATACTCCAGGCTG -3'
(R):5'- AACTGCATCTGAGATGGGTGG -3'
Sequencing Primer
(F):5'- ACTCTTCTATACTCCAGGCTGTATAG -3'
(R):5'- CATCTGAGATGGGTGGTTTGCC -3'
|
Posted On |
2016-09-01 |