Incidental Mutation 'IGL01527:Cacnb2'
| ID |
89611 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cacnb2
|
| Ensembl Gene |
ENSMUSG00000057914 |
| Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
| Synonyms |
Cchb2, Cavbeta2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01527
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14989081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 393
(I393T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000193800]
|
| AlphaFold |
Q8CC27 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114719
AA Change: I393T
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: I393T
| 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 |
possibly damaging
Transcript: ENSMUST00000114723
AA Change: I437T
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: I437T
| 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: ENSMUST00000144423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193452
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193522
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193800
AA Change: I387T
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: I387T
| 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 |
|
| 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 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
G |
T |
17: 35,878,730 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,240,788 (GRCm39) |
W884R |
possibly damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,984 (GRCm39) |
|
probably benign |
Het |
| Ankfn1 |
G |
T |
11: 89,282,465 (GRCm39) |
P394Q |
probably benign |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,778,880 (GRCm39) |
E269G |
probably damaging |
Het |
| Cyp24a1 |
A |
G |
2: 170,338,486 (GRCm39) |
L70P |
probably damaging |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,061 (GRCm39) |
K424E |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,657,869 (GRCm39) |
Q1902* |
probably null |
Het |
| Dst |
T |
A |
1: 34,286,734 (GRCm39) |
L544Q |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,858,865 (GRCm39) |
T591A |
probably benign |
Het |
| Gap43 |
C |
T |
16: 42,112,516 (GRCm39) |
E82K |
probably benign |
Het |
| Ift70a1 |
T |
C |
2: 75,810,860 (GRCm39) |
I408V |
probably benign |
Het |
| Kif17 |
G |
A |
4: 137,996,397 (GRCm39) |
V125I |
probably benign |
Het |
| Lancl2 |
T |
C |
6: 57,709,307 (GRCm39) |
S370P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,386,953 (GRCm39) |
I203V |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,421,687 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,829,726 (GRCm39) |
I143V |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,690 (GRCm39) |
V199A |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,955,243 (GRCm39) |
N3890I |
possibly damaging |
Het |
| Or2g7 |
A |
G |
17: 38,378,986 (GRCm39) |
N308S |
probably benign |
Het |
| Or2h2c |
A |
T |
17: 37,422,701 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or52n5 |
T |
A |
7: 104,588,198 (GRCm39) |
V155E |
possibly damaging |
Het |
| Or8g32 |
A |
G |
9: 39,305,114 (GRCm39) |
H6R |
probably benign |
Het |
| Palmd |
C |
A |
3: 116,720,837 (GRCm39) |
E166* |
probably null |
Het |
| Pdzd2 |
T |
C |
15: 12,445,750 (GRCm39) |
E327G |
probably damaging |
Het |
| Pex13 |
T |
C |
11: 23,606,111 (GRCm39) |
T40A |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,646,750 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,474,467 (GRCm39) |
T643A |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,329,257 (GRCm39) |
D577E |
probably benign |
Het |
| Rimoc1 |
T |
C |
15: 4,018,165 (GRCm39) |
Y170C |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,320,777 (GRCm39) |
C75R |
probably damaging |
Het |
| Susd6 |
A |
T |
12: 80,921,093 (GRCm39) |
N230I |
possibly damaging |
Het |
| Tbx10 |
A |
G |
19: 4,048,227 (GRCm39) |
R251G |
probably damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,816 (GRCm39) |
|
probably null |
Het |
| Ugt2b5 |
A |
G |
5: 87,284,068 (GRCm39) |
V308A |
possibly damaging |
Het |
| Usp28 |
C |
A |
9: 48,937,173 (GRCm39) |
H147Q |
probably benign |
Het |
| Vmn1r203 |
T |
C |
13: 22,708,447 (GRCm39) |
I76T |
possibly damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,263,158 (GRCm39) |
I101T |
possibly damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,601,006 (GRCm39) |
L768H |
probably damaging |
Het |
|
| Other mutations in Cacnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0095:Cacnb2
|
UTSW |
2 |
14,963,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-03 |
Incidental Mutation