Incidental Mutation 'IGL01535:Cacnb3'
| ID |
89931 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cacnb3
|
| Ensembl Gene |
ENSMUSG00000003352 |
| Gene Name |
calcium channel, voltage-dependent, beta 3 subunit |
| Synonyms |
Cchb3, Beta3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.500)
|
| Stock # |
IGL01535
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98528721-98542410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98537469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 49
(Q49L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003442]
[ENSMUST00000109150]
[ENSMUST00000230490]
|
| AlphaFold |
P54285 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003442
AA Change: Q49L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352
AA Change: Q49L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VGCC_beta4Aa_N
|
16 |
58 |
8.7e-22 |
PFAM |
|
SH3
|
62 |
125 |
1.04e0 |
SMART |
|
GuKc
|
176 |
357 |
1.3e-32 |
SMART |
|
low complexity region
|
363 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109150
AA Change: Q48L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352
AA Change: Q48L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VGCC_beta4Aa_N
|
15 |
57 |
2.2e-21 |
PFAM |
|
SH3
|
61 |
124 |
1.04e0 |
SMART |
|
GuKc
|
175 |
356 |
1.3e-32 |
SMART |
|
low complexity region
|
362 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230490
AA Change: Q49L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230769
|
| 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 regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a null allele show altered Ca2+ channel activity, hyporesponsiveness to DHP, high blood pressure on a high salt diet, and impaired calcium responses and cytokine production in CD4 T cells. Homozygotes for another null allele show enhancedNMDA activity and long term potentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,101,891 (GRCm39) |
S654T |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,731,212 (GRCm39) |
H600R |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,878,845 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,566,846 (GRCm39) |
L1091* |
probably null |
Het |
| Epb42 |
A |
G |
2: 120,858,169 (GRCm39) |
V263A |
probably damaging |
Het |
| Fig4 |
T |
G |
10: 41,132,490 (GRCm39) |
S439R |
probably benign |
Het |
| Gatc |
A |
T |
5: 115,479,048 (GRCm39) |
V54E |
possibly damaging |
Het |
| Hook2 |
T |
C |
8: 85,729,618 (GRCm39) |
L686P |
probably benign |
Het |
| Med12l |
A |
T |
3: 59,169,680 (GRCm39) |
T1615S |
probably damaging |
Het |
| Msr1 |
C |
T |
8: 40,064,714 (GRCm39) |
G320D |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,256,414 (GRCm39) |
F220I |
probably damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,679 (GRCm39) |
I212F |
possibly damaging |
Het |
| Or2l5 |
G |
A |
16: 19,334,228 (GRCm39) |
H53Y |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,334,078 (GRCm39) |
I131F |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,660,697 (GRCm39) |
E784G |
possibly damaging |
Het |
| Prr36 |
A |
T |
8: 4,264,043 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,535,457 (GRCm39) |
S436L |
probably benign |
Het |
| Rock1 |
T |
A |
18: 10,132,119 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
T |
G |
10: 8,617,341 (GRCm39) |
T522P |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,447,503 (GRCm39) |
|
probably null |
Het |
| Supt16 |
T |
C |
14: 52,414,647 (GRCm39) |
K422E |
probably damaging |
Het |
| Syt14 |
T |
G |
1: 192,669,073 (GRCm39) |
D60A |
probably damaging |
Het |
| Tbc1d2b |
A |
C |
9: 90,097,526 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,605,954 (GRCm39) |
I565T |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,564,536 (GRCm39) |
Y28534H |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,765 (GRCm39) |
H37L |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,455,103 (GRCm39) |
N671Y |
possibly damaging |
Het |
|
| Other mutations in Cacnb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01142:Cacnb3
|
APN |
15 |
98,539,883 (GRCm39) |
nonsense |
probably null |
|
|
IGL01298:Cacnb3
|
APN |
15 |
98,537,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01537:Cacnb3
|
APN |
15 |
98,541,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02304:Cacnb3
|
APN |
15 |
98,540,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Cacnb3
|
APN |
15 |
98,538,842 (GRCm39) |
nonsense |
probably null |
|
|
R0270:Cacnb3
|
UTSW |
15 |
98,540,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1677:Cacnb3
|
UTSW |
15 |
98,540,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3407:Cacnb3
|
UTSW |
15 |
98,539,068 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3408:Cacnb3
|
UTSW |
15 |
98,539,068 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4160:Cacnb3
|
UTSW |
15 |
98,538,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Cacnb3
|
UTSW |
15 |
98,537,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Cacnb3
|
UTSW |
15 |
98,539,498 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7773:Cacnb3
|
UTSW |
15 |
98,537,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8459:Cacnb3
|
UTSW |
15 |
98,537,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Cacnb3
|
UTSW |
15 |
98,539,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8714:Cacnb3
|
UTSW |
15 |
98,530,262 (GRCm39) |
unclassified |
probably benign |
|
|
R9240:Cacnb3
|
UTSW |
15 |
98,540,486 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9260:Cacnb3
|
UTSW |
15 |
98,537,438 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation