Incidental Mutation 'IGL01298:Cacnb3'
| ID |
73212 |
| 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: 0.423)
|
| Stock # |
IGL01298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98528721-98542410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98537734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 70
(Y70H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003442]
[ENSMUST00000109150]
[ENSMUST00000230490]
|
| AlphaFold |
P54285 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003442
AA Change: Y70H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352
AA Change: Y70H
| 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 damaging
Transcript: ENSMUST00000109150
AA Change: Y69H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352
AA Change: Y69H
| 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 damaging
Transcript: ENSMUST00000230490
AA Change: Y70H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2a |
G |
T |
10: 75,169,326 (GRCm39) |
W263C |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,652,040 (GRCm39) |
H424Y |
possibly damaging |
Het |
| Angpt2 |
T |
G |
8: 18,760,544 (GRCm39) |
N186T |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,753,369 (GRCm39) |
V304A |
possibly damaging |
Het |
| Atg3 |
T |
C |
16: 44,992,036 (GRCm39) |
M88T |
possibly damaging |
Het |
| Baz1a |
G |
T |
12: 55,001,594 (GRCm39) |
P142Q |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,444,055 (GRCm39) |
|
probably null |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cyp7a1 |
A |
T |
4: 6,275,517 (GRCm39) |
W19R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,738,920 (GRCm39) |
D58Y |
unknown |
Het |
| Gm7168 |
A |
T |
17: 14,170,120 (GRCm39) |
T496S |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,636,600 (GRCm39) |
S428G |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,705,757 (GRCm39) |
E309G |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,753,023 (GRCm39) |
L1021P |
possibly damaging |
Het |
| Krtap14 |
A |
T |
16: 88,622,615 (GRCm39) |
H121Q |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,388,959 (GRCm39) |
V170A |
probably benign |
Het |
| Or1j10 |
T |
A |
2: 36,267,460 (GRCm39) |
M224K |
probably benign |
Het |
| Or6c3b |
T |
C |
10: 129,527,898 (GRCm39) |
Y4C |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,990,020 (GRCm39) |
T7I |
possibly damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,037 (GRCm39) |
M96T |
possibly damaging |
Het |
| Pramel5 |
A |
G |
4: 143,997,732 (GRCm39) |
|
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,605 (GRCm39) |
N354S |
probably benign |
Het |
| Prss40 |
T |
G |
1: 34,599,847 (GRCm39) |
I47L |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,484,538 (GRCm39) |
R541G |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,023,508 (GRCm39) |
V788A |
possibly damaging |
Het |
| Trbv19 |
T |
C |
6: 41,155,838 (GRCm39) |
Y70H |
probably damaging |
Het |
| Ttk |
C |
T |
9: 83,747,195 (GRCm39) |
S678L |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
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 |
|
|
IGL01535:Cacnb3
|
APN |
15 |
98,537,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2013-10-07 |
Incidental Mutation