Incidental Mutation 'IGL02806:Cacna2d3'
ID |
360447 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cacna2d3
|
Ensembl Gene |
ENSMUSG00000021991 |
Gene Name |
calcium channel, voltage-dependent, alpha2/delta subunit 3 |
Synonyms |
alpha 2 delta-3, alpha2delta3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02806
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 29073907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022567
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
[ENSMUST00000022567]
[ENSMUST00000225733]
[ENSMUST00000225863]
|
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 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: ENSMUST00000225733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225863
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225953
|
Coding Region Coverage |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot4 |
A |
G |
12: 84,088,737 (GRCm39) |
D195G |
probably damaging |
Het |
Acsm1 |
G |
A |
7: 119,235,861 (GRCm39) |
D194N |
probably benign |
Het |
Akr1b1 |
T |
C |
6: 34,281,254 (GRCm39) |
Y310C |
probably damaging |
Het |
Aldh6a1 |
T |
C |
12: 84,486,414 (GRCm39) |
D168G |
probably damaging |
Het |
Ankrd29 |
A |
C |
18: 12,408,795 (GRCm39) |
S166A |
probably benign |
Het |
Ap1m2 |
T |
G |
9: 21,216,979 (GRCm39) |
D119A |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,681,297 (GRCm39) |
K776R |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,000,643 (GRCm39) |
D1274G |
possibly damaging |
Het |
Ccdc51 |
T |
C |
9: 108,921,316 (GRCm39) |
M401T |
probably benign |
Het |
Cchcr1 |
A |
G |
17: 35,836,153 (GRCm39) |
|
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
Ddx60 |
T |
A |
8: 62,409,156 (GRCm39) |
D397E |
probably benign |
Het |
Duox2 |
T |
C |
2: 122,115,147 (GRCm39) |
H1110R |
probably damaging |
Het |
Ephb3 |
C |
A |
16: 21,041,031 (GRCm39) |
D696E |
probably benign |
Het |
Ermap |
T |
C |
4: 119,046,113 (GRCm39) |
K6E |
possibly damaging |
Het |
Gm3095 |
A |
G |
14: 15,170,388 (GRCm39) |
D79G |
possibly damaging |
Het |
Hnrnpab |
A |
G |
11: 51,496,305 (GRCm39) |
S126P |
probably benign |
Het |
Hyou1 |
C |
A |
9: 44,300,180 (GRCm39) |
S823* |
probably null |
Het |
Klhl31 |
T |
A |
9: 77,563,056 (GRCm39) |
V607E |
probably damaging |
Het |
Klrc3 |
A |
T |
6: 129,616,065 (GRCm39) |
C209S |
possibly damaging |
Het |
Lhx4 |
G |
A |
1: 155,577,975 (GRCm39) |
P389L |
probably benign |
Het |
Lmntd2 |
T |
C |
7: 140,791,952 (GRCm39) |
T264A |
probably benign |
Het |
Mkx |
T |
C |
18: 6,937,025 (GRCm39) |
D302G |
probably damaging |
Het |
Ms4a4d |
T |
C |
19: 11,533,610 (GRCm39) |
S164P |
possibly damaging |
Het |
Myo1e |
A |
G |
9: 70,269,552 (GRCm39) |
E651G |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,750,151 (GRCm39) |
|
probably null |
Het |
Ncoa3 |
A |
G |
2: 165,894,352 (GRCm39) |
I298V |
probably benign |
Het |
Nek1 |
G |
A |
8: 61,497,120 (GRCm39) |
M389I |
probably benign |
Het |
Nid1 |
T |
A |
13: 13,642,897 (GRCm39) |
D278E |
probably benign |
Het |
Nkx2-9 |
C |
T |
12: 56,658,705 (GRCm39) |
V170M |
probably damaging |
Het |
Or51ag1 |
T |
A |
7: 103,155,210 (GRCm39) |
K314N |
probably benign |
Het |
Oxsr1 |
T |
C |
9: 119,070,260 (GRCm39) |
D511G |
possibly damaging |
Het |
Pramel14 |
T |
A |
4: 143,719,501 (GRCm39) |
|
probably null |
Het |
Rbm44 |
T |
C |
1: 91,080,799 (GRCm39) |
L329S |
possibly damaging |
Het |
Setd7 |
A |
T |
3: 51,457,688 (GRCm39) |
N46K |
probably damaging |
Het |
Snx10 |
T |
A |
6: 51,565,329 (GRCm39) |
F149I |
probably damaging |
Het |
Sult2a3 |
T |
A |
7: 13,856,857 (GRCm39) |
E21V |
probably damaging |
Het |
Tas2r135 |
T |
C |
6: 42,383,382 (GRCm39) |
F307S |
probably benign |
Het |
Tmem131l |
T |
C |
3: 83,836,123 (GRCm39) |
|
probably benign |
Het |
Tnfsf18 |
T |
G |
1: 161,331,348 (GRCm39) |
M166R |
possibly damaging |
Het |
Toe1 |
C |
T |
4: 116,663,527 (GRCm39) |
V88M |
possibly damaging |
Het |
Ttk |
T |
A |
9: 83,744,540 (GRCm39) |
C577* |
probably null |
Het |
Ush2a |
T |
A |
1: 188,542,554 (GRCm39) |
Y3373* |
probably null |
Het |
Vwa8 |
A |
G |
14: 79,394,528 (GRCm39) |
D1543G |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,455,468 (GRCm39) |
H1154L |
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 |
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 |
|
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 |
|
Posted On |
2015-12-18 |