Incidental Mutation 'R4160:Cacnb3'
| ID |
315712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb3
|
| Ensembl Gene |
ENSMUSG00000003352 |
| Gene Name |
calcium channel, voltage-dependent, beta 3 subunit |
| Synonyms |
Cchb3, Beta3 |
| MMRRC Submission |
041003-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.500)
|
| Stock # |
R4160 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
98528721-98542410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 98538601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 148
(G148C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003442]
[ENSMUST00000003450]
[ENSMUST00000109150]
[ENSMUST00000230490]
|
| AlphaFold |
P54285 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003442
AA Change: G148C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352
AA Change: G148C
| 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: ENSMUST00000003450
|
| SMART Domains |
Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
161 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
coiled coil region
|
320 |
352 |
N/A |
INTRINSIC |
|
DEXDc
|
409 |
641 |
2.95e-65 |
SMART |
|
HELICc
|
677 |
758 |
2.43e-34 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109150
AA Change: G147C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352
AA Change: G147C
| 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: G148C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230769
|
| Meta Mutation Damage Score |
0.2543 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
89% (34/38) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
| Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
| Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
| Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
| D130043K22Rik |
A |
C |
13: 25,046,679 (GRCm39) |
E360D |
probably benign |
Het |
| Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
| Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,585,143 (GRCm39) |
E1167G |
probably benign |
Het |
| Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,255,636 (GRCm39) |
|
probably benign |
Het |
| Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
| Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
| Pdia3 |
A |
T |
2: 121,244,596 (GRCm39) |
D26V |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
| Pkn2 |
G |
A |
3: 142,509,325 (GRCm39) |
P740S |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,432,253 (GRCm39) |
L124P |
probably damaging |
Het |
| Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,262,910 (GRCm39) |
Q919K |
probably benign |
Het |
| Ptpn1 |
T |
C |
2: 167,809,731 (GRCm39) |
I113T |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
| Rbl1 |
A |
G |
2: 157,034,039 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
| Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
| Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
| Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
| Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTAGCACTGCGCCCAC -3'
(R):5'- GCTTGGGAGTCCCTTCCC -3'
Sequencing Primer
(F):5'- CCACAGAACACAGCTATACATTTAC -3'
(R):5'- CCTGGGGAGGTAACAGGCTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation