Incidental Mutation 'R4426:Cacnb2'
ID |
328143 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacnb2
|
Ensembl Gene |
ENSMUSG00000057914 |
Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
Synonyms |
Cchb2, Cavbeta2 |
MMRRC Submission |
041697-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4426 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 14980026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 290
(R290*)
|
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 null
Transcript: ENSMUST00000114719
AA Change: R296*
|
SMART Domains |
Protein: ENSMUSP00000110367 Gene: ENSMUSG00000057914 AA Change: R296*
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 null
Transcript: ENSMUST00000114723
AA Change: R340*
|
SMART Domains |
Protein: ENSMUSP00000110371 Gene: ENSMUSG00000057914 AA Change: R340*
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 |
probably null
Transcript: ENSMUST00000193522
AA Change: R113*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000193800
AA Change: R290*
|
SMART Domains |
Protein: ENSMUSP00000141221 Gene: ENSMUSG00000057914 AA Change: R290*
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Albfm1 |
G |
T |
5: 90,720,642 (GRCm39) |
C271F |
probably damaging |
Het |
Arhgef39 |
C |
T |
4: 43,497,112 (GRCm39) |
G293E |
possibly damaging |
Het |
Atp8a1 |
A |
C |
5: 67,932,171 (GRCm39) |
I206S |
probably benign |
Het |
Ccdc137 |
T |
C |
11: 120,351,074 (GRCm39) |
S159P |
probably damaging |
Het |
Chil5 |
A |
G |
3: 105,926,943 (GRCm39) |
S231P |
probably damaging |
Het |
Cic |
C |
T |
7: 24,993,433 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,532,581 (GRCm39) |
V2434A |
possibly damaging |
Het |
Csnk1a1 |
A |
G |
18: 61,718,381 (GRCm39) |
|
probably benign |
Het |
Eif4e1b |
T |
C |
13: 54,932,296 (GRCm39) |
S49P |
probably benign |
Het |
Far1 |
C |
A |
7: 113,149,208 (GRCm39) |
P194Q |
probably benign |
Het |
Fut4 |
T |
C |
9: 14,662,677 (GRCm39) |
T206A |
possibly damaging |
Het |
Galnt7 |
G |
T |
8: 58,005,606 (GRCm39) |
S209* |
probably null |
Het |
Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
Hoxa13 |
C |
A |
6: 52,237,714 (GRCm39) |
|
probably benign |
Het |
Ighv1-9 |
T |
A |
12: 114,547,416 (GRCm39) |
K42* |
probably null |
Het |
Kif20a |
C |
T |
18: 34,764,994 (GRCm39) |
R743W |
probably damaging |
Het |
Lama2 |
G |
A |
10: 27,298,554 (GRCm39) |
R181C |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,336,692 (GRCm39) |
T1360K |
probably benign |
Het |
Map4k1 |
G |
A |
7: 28,688,020 (GRCm39) |
V177I |
probably damaging |
Het |
Nbea |
G |
A |
3: 55,989,800 (GRCm39) |
T352I |
probably damaging |
Het |
Nde1 |
A |
G |
16: 14,006,200 (GRCm39) |
T82A |
possibly damaging |
Het |
Nes |
A |
G |
3: 87,883,349 (GRCm39) |
E536G |
probably damaging |
Het |
Nms |
C |
T |
1: 38,978,377 (GRCm39) |
P4L |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,088,293 (GRCm39) |
Q1088R |
possibly damaging |
Het |
Nwd1 |
A |
G |
8: 73,393,423 (GRCm39) |
K229E |
probably damaging |
Het |
Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
Or52ad1 |
A |
G |
7: 102,995,290 (GRCm39) |
Y282H |
probably damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,277,796 (GRCm39) |
S259T |
probably benign |
Het |
Pdcd5 |
T |
C |
7: 35,345,605 (GRCm39) |
D102G |
possibly damaging |
Het |
Pgm1 |
T |
C |
4: 99,819,337 (GRCm39) |
V169A |
probably benign |
Het |
Pitpnm2 |
C |
T |
5: 124,280,186 (GRCm39) |
E121K |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,593,555 (GRCm39) |
Y53C |
probably damaging |
Het |
Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
Polr2c |
A |
T |
8: 95,590,090 (GRCm39) |
N232Y |
probably damaging |
Het |
Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rab3gap2 |
G |
A |
1: 184,967,539 (GRCm39) |
S141N |
probably damaging |
Het |
Radx |
T |
C |
X: 138,381,645 (GRCm39) |
V134A |
possibly damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rnf166 |
A |
G |
8: 123,196,979 (GRCm39) |
L91P |
probably damaging |
Het |
Robo2 |
T |
A |
16: 73,745,154 (GRCm39) |
M200L |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,418,147 (GRCm39) |
H988Q |
probably benign |
Het |
Sbno2 |
T |
C |
10: 79,908,192 (GRCm39) |
K69R |
probably null |
Het |
Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
Shc3 |
C |
G |
13: 51,634,130 (GRCm39) |
|
probably null |
Het |
Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
Sptbn4 |
A |
C |
7: 27,123,223 (GRCm39) |
L233R |
probably damaging |
Het |
Stx5a |
A |
G |
19: 8,727,104 (GRCm39) |
T252A |
probably benign |
Het |
Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
Tmem87b |
C |
T |
2: 128,688,670 (GRCm39) |
A485V |
probably benign |
Het |
Tns1 |
A |
G |
1: 74,024,908 (GRCm39) |
I403T |
probably damaging |
Het |
Ttll10 |
G |
C |
4: 156,133,018 (GRCm39) |
T22R |
possibly damaging |
Het |
Uevld |
A |
T |
7: 46,589,890 (GRCm39) |
S293T |
probably benign |
Het |
Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
Vmn1r39 |
A |
T |
6: 66,782,345 (GRCm39) |
|
probably null |
Het |
Vmn2r106 |
A |
G |
17: 20,505,641 (GRCm39) |
S18P |
probably benign |
Het |
Vmn2r61 |
A |
T |
7: 41,950,157 (GRCm39) |
H859L |
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,950,159 (GRCm39) |
S860P |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,387,036 (GRCm39) |
R843* |
probably null |
Het |
Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,960,516 (GRCm39) |
D25G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCTAGGCAAGACAGGTGC -3'
(R):5'- GGATGACTTAAGCTATCCCAGTAAC -3'
Sequencing Primer
(F):5'- GGATCCCCTGCAACTGGAATTATAG -3'
(R):5'- ACTACACTAGCTGTTGACATGG -3'
|
Posted On |
2015-07-07 |