Incidental Mutation 'R0095:Cacnb2'
| ID |
17306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb2
|
| Ensembl Gene |
ENSMUSG00000057914 |
| Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
| Synonyms |
Cchb2, Cavbeta2 |
| MMRRC Submission |
038381-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0095 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 14963586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 61
(V61F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000193800]
|
| AlphaFold |
Q8CC27 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114718
|
| SMART Domains |
Protein: ENSMUSP00000110366
Gene: ENSMUSG00000057914
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VGCC_beta4Aa_N
|
24 |
65 |
5.9e-28 |
PFAM |
|
SH3
|
69 |
133 |
2.42e-2 |
SMART |
|
low complexity region
|
149 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114719
AA Change: V67F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: V67F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VGCC_beta4Aa_N
|
24 |
65 |
1.7e-26 |
PFAM |
|
SH3
|
69 |
133 |
2.42e-2 |
SMART |
|
low complexity region
|
149 |
161 |
N/A |
INTRINSIC |
|
GuKc
|
232 |
414 |
6.11e-38 |
SMART |
|
low complexity region
|
419 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114723
AA Change: V111F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: V111F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
61 |
N/A |
INTRINSIC |
|
Pfam:VGCC_beta4Aa_N
|
68 |
109 |
2.7e-25 |
PFAM |
|
SH3
|
113 |
177 |
2.42e-2 |
SMART |
|
low complexity region
|
193 |
205 |
N/A |
INTRINSIC |
|
GuKc
|
276 |
458 |
6.11e-38 |
SMART |
|
low complexity region
|
463 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
605 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156027
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193800
AA Change: V61F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: V61F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VGCC_beta4Aa_N
|
18 |
59 |
3.2e-27 |
PFAM |
|
SH3
|
63 |
127 |
2.42e-2 |
SMART |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
GuKc
|
226 |
408 |
6.11e-38 |
SMART |
|
low complexity region
|
413 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
555 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193522
|
| Meta Mutation Damage Score |
0.6213 |
| Coding Region Coverage |
- 1x: 88.6%
- 3x: 85.1%
- 10x: 74.3%
- 20x: 56.3%
|
| Validation Efficiency |
88% (50/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality at E10.5 with growth retardation, abnormal yolk vasculature and abnormal cardiac development and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
T |
C |
1: 9,630,402 (GRCm39) |
I317T |
possibly damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,141,774 (GRCm39) |
G21D |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,597,235 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Anxa8 |
G |
A |
14: 33,808,028 (GRCm39) |
A6T |
probably benign |
Het |
| Arhgef4 |
C |
T |
1: 34,771,451 (GRCm39) |
Q86* |
probably null |
Het |
| Atp4a |
T |
A |
7: 30,420,160 (GRCm39) |
I769N |
probably damaging |
Het |
| Clcf1 |
T |
G |
19: 4,265,842 (GRCm39) |
|
probably benign |
Het |
| Cmah |
G |
T |
13: 24,620,668 (GRCm39) |
A301S |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,952,555 (GRCm39) |
W448R |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,283,065 (GRCm39) |
D630E |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,788 (GRCm39) |
Y1434N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,748,679 (GRCm39) |
D137G |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
| Foxp2 |
C |
A |
6: 15,196,976 (GRCm39) |
A6E |
probably damaging |
Het |
| Gpr3 |
T |
A |
4: 132,938,597 (GRCm39) |
D25V |
probably benign |
Het |
| Gstm7 |
A |
T |
3: 107,837,879 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,094,073 (GRCm39) |
V332A |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
| Itk |
T |
C |
11: 46,233,279 (GRCm39) |
D266G |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,278,205 (GRCm39) |
R839H |
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,900,550 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
| Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,049,534 (GRCm39) |
S562P |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,724,696 (GRCm39) |
V222M |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,578,417 (GRCm39) |
|
probably benign |
Het |
| Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,613,314 (GRCm39) |
Y464H |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,054,714 (GRCm39) |
N299K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,442,417 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,320,969 (GRCm39) |
T1569A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,382,737 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,979,291 (GRCm39) |
D567G |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,757,855 (GRCm39) |
Y596C |
probably damaging |
Het |
|
| Other mutations in Cacnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01527:Cacnb2
|
APN |
2 |
14,989,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01806:Cacnb2
|
APN |
2 |
14,619,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01939:Cacnb2
|
APN |
2 |
14,976,380 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02941:Cacnb2
|
APN |
2 |
14,963,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT1430001:Cacnb2
|
UTSW |
2 |
14,976,412 (GRCm39) |
nonsense |
probably null |
|
|
PIT4498001:Cacnb2
|
UTSW |
2 |
14,879,630 (GRCm39) |
nonsense |
probably null |
|
|
PIT4508001:Cacnb2
|
UTSW |
2 |
14,989,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0731:Cacnb2
|
UTSW |
2 |
14,990,517 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1521:Cacnb2
|
UTSW |
2 |
14,619,163 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1829:Cacnb2
|
UTSW |
2 |
14,990,775 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2174:Cacnb2
|
UTSW |
2 |
14,963,578 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2471:Cacnb2
|
UTSW |
2 |
14,989,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2473:Cacnb2
|
UTSW |
2 |
14,989,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Cacnb2
|
UTSW |
2 |
14,829,074 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3831:Cacnb2
|
UTSW |
2 |
14,986,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3832:Cacnb2
|
UTSW |
2 |
14,986,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Cacnb2
|
UTSW |
2 |
14,986,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Cacnb2
|
UTSW |
2 |
14,609,314 (GRCm39) |
missense |
probably benign |
|
|
R4231:Cacnb2
|
UTSW |
2 |
14,986,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Cacnb2
|
UTSW |
2 |
14,980,026 (GRCm39) |
nonsense |
probably null |
|
|
R4569:Cacnb2
|
UTSW |
2 |
14,990,811 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4815:Cacnb2
|
UTSW |
2 |
14,879,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Cacnb2
|
UTSW |
2 |
14,986,151 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5189:Cacnb2
|
UTSW |
2 |
14,990,849 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6114:Cacnb2
|
UTSW |
2 |
14,980,012 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6158:Cacnb2
|
UTSW |
2 |
14,990,412 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6530:Cacnb2
|
UTSW |
2 |
14,979,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6612:Cacnb2
|
UTSW |
2 |
14,979,960 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6882:Cacnb2
|
UTSW |
2 |
14,829,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6889:Cacnb2
|
UTSW |
2 |
14,990,826 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7804:Cacnb2
|
UTSW |
2 |
14,972,848 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7820:Cacnb2
|
UTSW |
2 |
14,965,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7971:Cacnb2
|
UTSW |
2 |
14,976,409 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7980:Cacnb2
|
UTSW |
2 |
14,609,326 (GRCm39) |
missense |
probably benign |
|
|
R7993:Cacnb2
|
UTSW |
2 |
14,968,731 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8762:Cacnb2
|
UTSW |
2 |
14,972,759 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8868:Cacnb2
|
UTSW |
2 |
14,989,080 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9147:Cacnb2
|
UTSW |
2 |
14,972,773 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9148:Cacnb2
|
UTSW |
2 |
14,972,773 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9211:Cacnb2
|
UTSW |
2 |
14,879,308 (GRCm39) |
missense |
unknown |
|
|
R9521:Cacnb2
|
UTSW |
2 |
14,609,138 (GRCm39) |
start gained |
probably benign |
|
|
R9773:Cacnb2
|
UTSW |
2 |
14,976,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation