Incidental Mutation 'R6114:Cacnb2'
ID |
484991 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacnb2
|
Ensembl Gene |
ENSMUSG00000057914 |
Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
Synonyms |
Cchb2, Cavbeta2 |
MMRRC Submission |
044263-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6114 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 14980012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 285
(H285L)
|
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 |
possibly damaging
Transcript: ENSMUST00000114719
AA Change: H291L
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110367 Gene: ENSMUSG00000057914 AA Change: H291L
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: H335L
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110371 Gene: ENSMUSG00000057914 AA Change: H335L
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: ENSMUST00000191903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193262
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193452
|
Predicted Effect |
unknown
Transcript: ENSMUST00000193522
AA Change: H108L
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193800
AA Change: H285L
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141221 Gene: ENSMUSG00000057914 AA Change: H285L
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: ENSMUST00000194921
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
94% (60/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
C |
A |
14: 68,809,252 (GRCm39) |
V237L |
probably benign |
Het |
Aff1 |
T |
C |
5: 103,990,163 (GRCm39) |
S878P |
probably damaging |
Het |
Ahcy |
A |
C |
2: 154,904,079 (GRCm39) |
L386R |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,804,700 (GRCm39) |
N607D |
probably damaging |
Het |
Arid5b |
T |
C |
10: 67,933,574 (GRCm39) |
D776G |
possibly damaging |
Het |
Art4 |
T |
A |
6: 136,834,211 (GRCm39) |
T11S |
unknown |
Het |
Blm |
T |
C |
7: 80,163,235 (GRCm39) |
T39A |
probably damaging |
Het |
Cabin1 |
T |
A |
10: 75,583,805 (GRCm39) |
M221L |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,573,101 (GRCm39) |
T1675A |
probably benign |
Het |
Cchcr1 |
A |
G |
17: 35,836,227 (GRCm39) |
E339G |
probably damaging |
Het |
Cd14 |
A |
G |
18: 36,859,006 (GRCm39) |
W150R |
probably damaging |
Het |
Cep162 |
A |
G |
9: 87,085,763 (GRCm39) |
I1187T |
probably benign |
Het |
Cntnap4 |
A |
G |
8: 113,568,385 (GRCm39) |
H807R |
probably damaging |
Het |
Copb1 |
T |
A |
7: 113,846,036 (GRCm39) |
H178L |
probably benign |
Het |
Cpxm2 |
A |
G |
7: 131,756,035 (GRCm39) |
V103A |
probably benign |
Het |
Egfr |
A |
G |
11: 16,854,374 (GRCm39) |
T849A |
possibly damaging |
Het |
Endou |
T |
A |
15: 97,611,757 (GRCm39) |
K294* |
probably null |
Het |
Hoxd9 |
A |
G |
2: 74,529,709 (GRCm39) |
N322D |
probably damaging |
Het |
Hsph1 |
C |
A |
5: 149,550,852 (GRCm39) |
V416L |
possibly damaging |
Het |
Igkv4-78 |
T |
A |
6: 69,036,743 (GRCm39) |
T97S |
possibly damaging |
Het |
Itga10 |
G |
T |
3: 96,556,351 (GRCm39) |
C162F |
probably damaging |
Het |
Lmod2 |
A |
G |
6: 24,603,691 (GRCm39) |
E222G |
probably damaging |
Het |
Lpar5 |
A |
G |
6: 125,058,639 (GRCm39) |
N120S |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,508,617 (GRCm39) |
|
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,029 (GRCm39) |
I1318V |
probably benign |
Het |
Lst1 |
T |
C |
17: 35,407,336 (GRCm39) |
T11A |
possibly damaging |
Het |
Mfn1 |
C |
A |
3: 32,617,985 (GRCm39) |
A106D |
probably damaging |
Het |
Ms4a12 |
G |
T |
19: 11,192,654 (GRCm39) |
N227K |
probably benign |
Het |
Nr1h4 |
T |
A |
10: 89,314,678 (GRCm39) |
N273Y |
possibly damaging |
Het |
Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
Or10a3b |
A |
T |
7: 108,444,593 (GRCm39) |
M208K |
possibly damaging |
Het |
Or1l8 |
A |
T |
2: 36,817,701 (GRCm39) |
C142S |
possibly damaging |
Het |
Or6c202 |
T |
A |
10: 128,996,202 (GRCm39) |
H217L |
probably benign |
Het |
Pcdhgc3 |
C |
G |
18: 37,940,925 (GRCm39) |
T442R |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,500,686 (GRCm39) |
N1468S |
probably damaging |
Het |
Pde2a |
A |
T |
7: 101,160,319 (GRCm39) |
|
probably null |
Het |
Pitx2 |
C |
G |
3: 128,998,062 (GRCm39) |
|
probably null |
Het |
Reck |
T |
A |
4: 43,922,895 (GRCm39) |
I390N |
probably damaging |
Het |
Rora |
A |
G |
9: 69,278,605 (GRCm39) |
N254S |
probably benign |
Het |
Samd4b |
A |
G |
7: 28,222,217 (GRCm39) |
|
probably null |
Het |
Scn8a |
A |
G |
15: 100,938,477 (GRCm39) |
T1949A |
probably damaging |
Het |
Slc22a15 |
A |
T |
3: 101,768,168 (GRCm39) |
Y346* |
probably null |
Het |
Slc24a5 |
A |
G |
2: 124,925,012 (GRCm39) |
T218A |
probably benign |
Het |
Slc38a10 |
G |
A |
11: 120,020,138 (GRCm39) |
Q305* |
probably null |
Het |
Slc45a4 |
G |
A |
15: 73,477,453 (GRCm39) |
P28S |
probably damaging |
Het |
Smyd5 |
A |
T |
6: 85,417,244 (GRCm39) |
|
probably benign |
Het |
Sox8 |
T |
C |
17: 25,786,494 (GRCm39) |
D403G |
probably damaging |
Het |
Stx7 |
A |
G |
10: 24,060,883 (GRCm39) |
|
probably null |
Het |
Svil |
T |
C |
18: 5,108,639 (GRCm39) |
S1522P |
probably damaging |
Het |
Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,640,081 (GRCm39) |
T352M |
probably damaging |
Het |
Tcf25 |
A |
T |
8: 124,111,114 (GRCm39) |
K192M |
probably damaging |
Het |
Tecpr1 |
C |
T |
5: 144,141,458 (GRCm39) |
G804S |
possibly damaging |
Het |
Teddm1a |
C |
G |
1: 153,767,614 (GRCm39) |
S26C |
probably damaging |
Het |
Usp13 |
C |
T |
3: 32,908,818 (GRCm39) |
P155S |
probably damaging |
Het |
Usp17lb |
T |
A |
7: 104,489,571 (GRCm39) |
D451V |
possibly damaging |
Het |
Vmn1r173 |
A |
G |
7: 23,402,254 (GRCm39) |
N163S |
possibly damaging |
Het |
Vmn2r103 |
G |
T |
17: 20,032,587 (GRCm39) |
C787F |
probably damaging |
Het |
Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
Zbtb40 |
T |
A |
4: 136,716,002 (GRCm39) |
I988F |
probably damaging |
Het |
Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
Zfp536 |
A |
T |
7: 37,179,161 (GRCm39) |
I84N |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCTAGGCAAGACAGGTGC -3'
(R):5'- ATCCCAGTAACTACACTAGCTGTTG -3'
Sequencing Primer
(F):5'- GGATCCCCTGCAACTGGAATTATAG -3'
(R):5'- ACTACACTAGCTGTTGACATGG -3'
|
Posted On |
2017-08-16 |