Incidental Mutation 'IGL02304:Cacnb3'
| ID |
287496 |
| 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 # |
IGL02304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98528721-98542410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98540263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 323
(D323V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003442]
[ENSMUST00000003450]
[ENSMUST00000109150]
[ENSMUST00000230490]
|
| AlphaFold |
P54285 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003442
AA Change: D296V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352
AA Change: D296V
| 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: D322V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352
AA Change: D322V
| 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: D323V
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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
G |
T |
18: 69,083,122 (GRCm39) |
H31N |
unknown |
Het |
| Adamts8 |
A |
G |
9: 30,867,952 (GRCm39) |
N592S |
possibly damaging |
Het |
| Atp1a2 |
C |
A |
1: 172,116,920 (GRCm39) |
E232D |
probably benign |
Het |
| Cdh9 |
A |
T |
15: 16,848,687 (GRCm39) |
T456S |
probably benign |
Het |
| Cep162 |
A |
T |
9: 87,109,200 (GRCm39) |
|
probably benign |
Het |
| Clvs2 |
T |
C |
10: 33,404,443 (GRCm39) |
M258V |
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,805,613 (GRCm39) |
T1098A |
unknown |
Het |
| Foxs1 |
T |
C |
2: 152,774,270 (GRCm39) |
D261G |
probably benign |
Het |
| Gas2l2 |
T |
C |
11: 83,315,064 (GRCm39) |
|
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,722,625 (GRCm39) |
M98K |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,545 (GRCm38) |
|
noncoding transcript |
Het |
| Herc1 |
A |
G |
9: 66,383,696 (GRCm39) |
D3720G |
probably benign |
Het |
| Kcnh5 |
C |
T |
12: 75,023,471 (GRCm39) |
M532I |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,295 (GRCm39) |
Y147H |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,849,738 (GRCm39) |
F55Y |
probably damaging |
Het |
| Krt15 |
T |
A |
11: 100,024,503 (GRCm39) |
I278F |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,894,180 (GRCm39) |
Y395* |
probably null |
Het |
| Mcm3ap |
T |
A |
10: 76,320,572 (GRCm39) |
N843K |
possibly damaging |
Het |
| Mpdz |
T |
C |
4: 81,228,394 (GRCm39) |
K1337E |
possibly damaging |
Het |
| Mpdz |
G |
A |
4: 81,215,796 (GRCm39) |
|
probably benign |
Het |
| Ms4a6d |
T |
C |
19: 11,580,505 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,726,943 (GRCm39) |
R922S |
possibly damaging |
Het |
| Nek1 |
G |
T |
8: 61,465,201 (GRCm39) |
G97C |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,967,448 (GRCm39) |
Y2963H |
probably damaging |
Het |
| Or4k44 |
T |
C |
2: 111,367,746 (GRCm39) |
N296S |
probably benign |
Het |
| Or4k6 |
T |
C |
14: 50,476,217 (GRCm39) |
N42D |
probably damaging |
Het |
| Or5w15 |
C |
T |
2: 87,568,330 (GRCm39) |
V113M |
probably benign |
Het |
| Prmt3 |
G |
A |
7: 49,476,485 (GRCm39) |
V365I |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,511,705 (GRCm39) |
T958A |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,167,164 (GRCm39) |
Y947H |
probably damaging |
Het |
| Pus10 |
C |
T |
11: 23,662,275 (GRCm39) |
S315L |
probably damaging |
Het |
| Rmi1 |
C |
A |
13: 58,557,290 (GRCm39) |
S513* |
probably null |
Het |
| Sec14l3 |
C |
T |
11: 4,024,768 (GRCm39) |
P239L |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,320,723 (GRCm39) |
T93A |
possibly damaging |
Het |
| Srsf3-ps |
C |
T |
11: 98,516,364 (GRCm39) |
R3H |
probably benign |
Het |
| Stat1 |
G |
A |
1: 52,171,703 (GRCm39) |
A125T |
probably benign |
Het |
| Tigd2 |
C |
T |
6: 59,188,683 (GRCm39) |
Q517* |
probably null |
Het |
| Trav13d-3 |
C |
T |
14: 53,270,837 (GRCm39) |
Q100* |
probably null |
Het |
| Trim67 |
G |
A |
8: 125,552,691 (GRCm39) |
D598N |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,735,522 (GRCm39) |
L2856P |
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 |
|
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 |
2015-04-16 |
Incidental Mutation