Incidental Mutation 'R6889:Cacnb2'
| ID |
537083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb2
|
| Ensembl Gene |
ENSMUSG00000057914 |
| Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
| Synonyms |
Cchb2, Cavbeta2 |
| MMRRC Submission |
044983-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6889 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14990826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 636
(V636E)
|
| 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: V592E
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: V592E
| 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: V636E
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: V636E
| 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: V586E
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: V586E
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,861,290 (GRCm39) |
D103E |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,266,381 (GRCm39) |
S70T |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,920,009 (GRCm39) |
Y214C |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,963 (GRCm39) |
|
probably null |
Het |
| Cd8a |
A |
C |
6: 71,351,546 (GRCm39) |
T169P |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,224,495 (GRCm39) |
V68I |
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,454,912 (GRCm39) |
S319R |
probably damaging |
Het |
| Dnaaf10 |
G |
A |
11: 17,172,309 (GRCm39) |
V133M |
probably damaging |
Het |
| Eea1 |
G |
T |
10: 95,873,340 (GRCm39) |
C1134F |
probably benign |
Het |
| Ehmt2 |
T |
G |
17: 35,131,748 (GRCm39) |
F1192V |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,092,661 (GRCm39) |
F531L |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,303 (GRCm39) |
T173I |
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,772,146 (GRCm39) |
C520S |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,428,004 (GRCm39) |
K186E |
probably benign |
Het |
| Gpr108 |
A |
T |
17: 57,543,990 (GRCm39) |
N405K |
probably damaging |
Het |
| Hmgcl |
C |
A |
4: 135,682,953 (GRCm39) |
T135N |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,259,488 (GRCm39) |
D2487N |
possibly damaging |
Het |
| Igfl3 |
G |
T |
7: 17,913,725 (GRCm39) |
R25L |
probably benign |
Het |
| Igsf10 |
A |
C |
3: 59,239,354 (GRCm39) |
S276A |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,107,045 (GRCm39) |
S211P |
probably damaging |
Het |
| Kctd7 |
A |
T |
5: 130,181,342 (GRCm39) |
Q255L |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,602,044 (GRCm39) |
Y270H |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,973,474 (GRCm39) |
N1248S |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,094 (GRCm39) |
F408S |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,219,538 (GRCm39) |
F652S |
probably damaging |
Het |
| Opa1 |
G |
T |
16: 29,439,686 (GRCm39) |
R792L |
probably benign |
Het |
| Or10ak14 |
G |
A |
4: 118,611,504 (GRCm39) |
T79I |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,975 (GRCm39) |
H91L |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,125 (GRCm39) |
F204I |
probably benign |
Het |
| Or6c74 |
T |
C |
10: 129,870,401 (GRCm39) |
M302T |
probably benign |
Het |
| Pcdha6 |
G |
T |
18: 37,101,396 (GRCm39) |
L196F |
probably damaging |
Het |
| Pdia2 |
A |
T |
17: 26,415,944 (GRCm39) |
Y347* |
probably null |
Het |
| Pdpr |
G |
T |
8: 111,851,245 (GRCm39) |
|
probably null |
Het |
| Pigt |
T |
A |
2: 164,349,251 (GRCm39) |
L518Q |
probably damaging |
Het |
| Ppfibp2 |
A |
C |
7: 107,337,188 (GRCm39) |
D591A |
possibly damaging |
Het |
| Prrg2 |
G |
A |
7: 44,709,413 (GRCm39) |
T97M |
possibly damaging |
Het |
| Qars1 |
A |
G |
9: 108,390,382 (GRCm39) |
T428A |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,076,541 (GRCm39) |
F202L |
probably damaging |
Het |
| Rars1 |
A |
T |
11: 35,699,313 (GRCm39) |
M660K |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Slc16a6 |
A |
C |
11: 109,345,866 (GRCm39) |
F382V |
probably damaging |
Het |
| Slc30a7 |
T |
C |
3: 115,747,802 (GRCm39) |
T330A |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,951,960 (GRCm39) |
L1157Q |
probably damaging |
Het |
| Snx4 |
G |
T |
16: 33,071,840 (GRCm39) |
A4S |
possibly damaging |
Het |
| Sv2b |
A |
C |
7: 74,775,515 (GRCm39) |
|
probably null |
Het |
| Syt9 |
A |
T |
7: 107,024,493 (GRCm39) |
I129L |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,603,834 (GRCm39) |
E198G |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,774,644 (GRCm39) |
D488V |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,530,068 (GRCm39) |
C3286S |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,894,950 (GRCm39) |
D56G |
possibly damaging |
Het |
| Vmn1r41 |
A |
T |
6: 89,724,352 (GRCm39) |
I298F |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,688 (GRCm39) |
V631D |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,475,573 (GRCm39) |
S437P |
possibly damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,069 (GRCm39) |
V197A |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,796,365 (GRCm39) |
I32F |
probably damaging |
Het |
| Wasf2 |
G |
T |
4: 132,922,041 (GRCm39) |
A387S |
unknown |
Het |
| Zbtb14 |
G |
A |
17: 69,694,674 (GRCm39) |
C124Y |
probably damaging |
Het |
| Zfp462 |
G |
T |
4: 55,007,671 (GRCm39) |
A37S |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,820,061 (GRCm39) |
E882G |
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 |
|
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 |
|
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'- CGTGGAGCCAAAGGAAGATTATTC -3'
(R):5'- TGCATGCCATTGCTATTGGAG -3'
Sequencing Primer
(F):5'- CATGAACATGTGGACCGGTATGTC -3'
(R):5'- TTGGAGCAACAGCAATACAAAATAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation