Incidental Mutation 'R7804:Cacnb2'
ID |
600652 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacnb2
|
Ensembl Gene |
ENSMUSG00000057914 |
Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
Synonyms |
Cchb2, Cavbeta2 |
MMRRC Submission |
045859-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7804 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 14972848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 252
(P252T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000193800]
|
AlphaFold |
Q8CC27 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114719
AA Change: P208T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000110367 Gene: ENSMUSG00000057914 AA Change: P208T
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: P252T
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110371 Gene: ENSMUSG00000057914 AA Change: P252T
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 |
probably benign
Transcript: ENSMUST00000193522
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193800
AA Change: P202T
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000141221 Gene: ENSMUSG00000057914 AA Change: P202T
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
95% (55/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
GTGTGTATGTGT |
GTGTGT |
11: 43,478,241 (GRCm39) |
|
probably benign |
Het |
Ago4 |
A |
T |
4: 126,406,423 (GRCm39) |
C296S |
probably benign |
Het |
Apbb1 |
A |
G |
7: 105,215,807 (GRCm39) |
L401P |
probably damaging |
Het |
Ctnna2 |
C |
T |
6: 77,618,357 (GRCm39) |
V202I |
probably benign |
Het |
Dapk1 |
A |
T |
13: 60,873,153 (GRCm39) |
I352F |
probably benign |
Het |
Dexi |
T |
C |
16: 10,360,349 (GRCm39) |
D69G |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,215,388 (GRCm39) |
E645G |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,551,841 (GRCm39) |
I2826T |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,610,235 (GRCm39) |
W1734R |
probably damaging |
Het |
Dtna |
A |
G |
18: 23,728,666 (GRCm39) |
K287R |
probably damaging |
Het |
Elovl5 |
A |
G |
9: 77,887,105 (GRCm39) |
|
probably null |
Het |
Ess2 |
T |
A |
16: 17,729,031 (GRCm39) |
I47F |
probably damaging |
Het |
Fam222b |
C |
A |
11: 78,044,979 (GRCm39) |
P180Q |
probably benign |
Het |
Fat3 |
C |
T |
9: 15,901,888 (GRCm39) |
V3046I |
probably benign |
Het |
Fem1a |
A |
G |
17: 56,565,068 (GRCm39) |
D387G |
probably damaging |
Het |
Frmd5 |
A |
G |
2: 121,422,225 (GRCm39) |
Y33H |
probably damaging |
Het |
Gucy2g |
A |
T |
19: 55,216,584 (GRCm39) |
L464H |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,103,489 (GRCm39) |
E1189G |
possibly damaging |
Het |
Itgb4 |
T |
C |
11: 115,894,510 (GRCm39) |
V1355A |
probably damaging |
Het |
Lepr |
A |
T |
4: 101,639,783 (GRCm39) |
S750C |
probably damaging |
Het |
Lingo1 |
T |
C |
9: 56,526,798 (GRCm39) |
D603G |
probably benign |
Het |
Map4k3 |
A |
C |
17: 80,922,499 (GRCm39) |
V474G |
probably damaging |
Het |
Myl4 |
T |
A |
11: 104,475,787 (GRCm39) |
V167E |
probably damaging |
Het |
Naa25 |
T |
C |
5: 121,562,652 (GRCm39) |
V478A |
probably benign |
Het |
Neurl4 |
T |
A |
11: 69,796,700 (GRCm39) |
L487H |
probably benign |
Het |
Nkx2-9 |
C |
T |
12: 56,658,917 (GRCm39) |
R99H |
probably damaging |
Het |
Or4c110 |
C |
G |
2: 88,831,855 (GRCm39) |
R259P |
unknown |
Het |
Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
Or6c76 |
A |
G |
10: 129,612,091 (GRCm39) |
I103V |
probably benign |
Het |
Pcdhga9 |
A |
G |
18: 37,871,132 (GRCm39) |
I320M |
probably damaging |
Het |
Pi15 |
T |
A |
1: 17,695,137 (GRCm39) |
C251* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,460,534 (GRCm39) |
K4248* |
probably null |
Het |
Prkg1 |
C |
T |
19: 30,556,032 (GRCm39) |
V625I |
probably benign |
Het |
Prkg1 |
G |
A |
19: 30,602,170 (GRCm39) |
A362V |
possibly damaging |
Het |
Prol1 |
C |
T |
5: 88,476,264 (GRCm39) |
T218I |
unknown |
Het |
Ptpro |
G |
A |
6: 137,376,599 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,699,481 (GRCm39) |
I1326K |
probably benign |
Het |
Shank1 |
C |
A |
7: 43,962,308 (GRCm39) |
R60S |
unknown |
Het |
Slc24a2 |
A |
G |
4: 86,909,774 (GRCm39) |
V648A |
probably damaging |
Het |
Slc35d3 |
T |
C |
10: 19,725,116 (GRCm39) |
T247A |
probably damaging |
Het |
Specc1 |
C |
T |
11: 62,096,223 (GRCm39) |
T895I |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,023,471 (GRCm39) |
E626G |
possibly damaging |
Het |
Syngr2 |
C |
A |
11: 117,703,401 (GRCm39) |
S72R |
possibly damaging |
Het |
Synj2 |
T |
A |
17: 6,069,809 (GRCm39) |
L490Q |
unknown |
Het |
Tbc1d9 |
T |
C |
8: 83,963,341 (GRCm39) |
L351P |
possibly damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Themis3 |
G |
A |
17: 66,862,605 (GRCm39) |
T451I |
probably benign |
Het |
Tia1 |
T |
C |
6: 86,401,364 (GRCm39) |
S146P |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,022,441 (GRCm39) |
N946K |
probably benign |
Het |
Tpr |
A |
T |
1: 150,308,310 (GRCm39) |
R1688S |
probably damaging |
Het |
Trav12-1 |
A |
G |
14: 53,775,988 (GRCm39) |
Q47R |
possibly damaging |
Het |
Ttll9 |
G |
A |
2: 152,844,278 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
A |
2: 76,537,585 (GRCm39) |
T34781M |
possibly damaging |
Het |
V1ra8 |
A |
G |
6: 90,180,298 (GRCm39) |
Y167C |
probably damaging |
Het |
Vegfb |
T |
C |
19: 6,963,707 (GRCm39) |
D84G |
probably damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
Wdr26 |
A |
G |
1: 181,010,387 (GRCm39) |
I554T |
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 |
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 |
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'- CTCTGTGTAATAGACTGCACATTC -3'
(R):5'- GCTTCTGCTTTGCTACAGCAG -3'
Sequencing Primer
(F):5'- CTGCACATTCATGATAAATCTTCTGC -3'
(R):5'- CTACAGCAGCATGGAAAAGAAAC -3'
|
Posted On |
2019-11-26 |