Incidental Mutation 'IGL02941:Cacnb2'
ID |
364516 |
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 # |
IGL02941
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 14963640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 85
(V85I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110367
(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 benign
Transcript: ENSMUST00000114719
AA Change: V85I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110367 Gene: ENSMUSG00000057914 AA Change: V85I
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 benign
Transcript: ENSMUST00000114723
AA Change: V129I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110371 Gene: ENSMUSG00000057914 AA Change: V129I
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 |
probably benign
Transcript: ENSMUST00000193800
AA Change: V79I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141221 Gene: ENSMUSG00000057914 AA Change: V79I
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: ENSMUST00000193452
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156027
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194921
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193262
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193522
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405O20Rik |
G |
A |
7: 50,249,284 (GRCm39) |
R106Q |
probably damaging |
Het |
Amhr2 |
T |
C |
15: 102,355,724 (GRCm39) |
V223A |
probably damaging |
Het |
Aqr |
T |
A |
2: 113,943,835 (GRCm39) |
H1101L |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,367,681 (GRCm39) |
|
probably benign |
Het |
Cast |
A |
T |
13: 74,848,806 (GRCm39) |
D727E |
probably damaging |
Het |
Ccdc134 |
C |
T |
15: 82,025,151 (GRCm39) |
R217W |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
Col5a3 |
A |
G |
9: 20,715,962 (GRCm39) |
S360P |
unknown |
Het |
Cyp4f16 |
T |
C |
17: 32,756,061 (GRCm39) |
I30T |
possibly damaging |
Het |
Dop1b |
T |
C |
16: 93,552,361 (GRCm39) |
F267L |
probably benign |
Het |
Fbxo3 |
A |
G |
2: 103,880,639 (GRCm39) |
T250A |
probably damaging |
Het |
Gm4953 |
C |
T |
1: 158,995,963 (GRCm39) |
|
noncoding transcript |
Het |
Gm9242 |
T |
C |
16: 97,292,279 (GRCm39) |
|
probably benign |
Het |
Gsr |
G |
A |
8: 34,179,453 (GRCm39) |
V354I |
probably damaging |
Het |
H2bc21 |
A |
G |
3: 96,128,732 (GRCm39) |
Y84C |
possibly damaging |
Het |
Hecw1 |
T |
A |
13: 14,552,311 (GRCm39) |
D96V |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,537,711 (GRCm39) |
Y492C |
probably damaging |
Het |
Itgb5 |
T |
G |
16: 33,764,465 (GRCm39) |
|
probably benign |
Het |
Lars2 |
T |
G |
9: 123,288,650 (GRCm39) |
L832R |
probably damaging |
Het |
Ms4a6c |
A |
G |
19: 11,448,466 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,515,811 (GRCm39) |
S1227G |
probably damaging |
Het |
Or1j11 |
T |
C |
2: 36,312,132 (GRCm39) |
C241R |
probably damaging |
Het |
Or2c1 |
T |
C |
16: 3,657,680 (GRCm39) |
V281A |
possibly damaging |
Het |
Or52r1c |
A |
G |
7: 102,735,528 (GRCm39) |
T263A |
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,685,747 (GRCm39) |
Y738C |
probably damaging |
Het |
Pcsk5 |
C |
A |
19: 17,424,865 (GRCm39) |
C1646F |
probably damaging |
Het |
Pirb |
A |
G |
7: 3,720,377 (GRCm39) |
V332A |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polrmt |
A |
T |
10: 79,573,092 (GRCm39) |
|
probably benign |
Het |
Saxo1 |
G |
T |
4: 86,363,821 (GRCm39) |
R221S |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,077,022 (GRCm39) |
I93V |
probably benign |
Het |
St8sia2 |
T |
A |
7: 73,626,397 (GRCm39) |
|
probably benign |
Het |
Tep1 |
A |
T |
14: 51,103,494 (GRCm39) |
N265K |
probably damaging |
Het |
Thbd |
A |
T |
2: 148,248,954 (GRCm39) |
Y305N |
probably damaging |
Het |
Tmem120a |
T |
C |
5: 135,764,605 (GRCm39) |
T325A |
probably damaging |
Het |
Vill |
G |
A |
9: 118,895,955 (GRCm39) |
|
probably benign |
Het |
Wdr35 |
A |
G |
12: 9,077,507 (GRCm39) |
D1060G |
probably damaging |
Het |
Xrn2 |
T |
A |
2: 146,868,444 (GRCm39) |
F166I |
probably damaging |
Het |
Zc3h7a |
T |
G |
16: 10,976,458 (GRCm39) |
|
probably null |
Het |
Zdhhc13 |
G |
A |
7: 48,466,886 (GRCm39) |
|
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,320,944 (GRCm39) |
N724K |
possibly 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 |
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 |
2015-12-18 |