Incidental Mutation 'R8868:Cacnb2'
| ID |
676057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb2
|
| Ensembl Gene |
ENSMUSG00000057914 |
| Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
| Synonyms |
Cchb2, Cavbeta2 |
| MMRRC Submission |
068683-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8868 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14989080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 437
(I437V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000193800]
|
| AlphaFold |
Q8CC27 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114719
AA Change: I393V
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: I393V
| 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: I437V
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: I437V
| 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: I387V
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: I387V
| 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 |
|
| Meta Mutation Damage Score |
0.2177 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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 |
|---|
| Acad8 |
T |
A |
9: 26,890,544 (GRCm39) |
N255Y |
probably damaging |
Het |
| Accsl |
A |
C |
2: 93,696,490 (GRCm39) |
L36R |
probably benign |
Het |
| Acvr2a |
T |
A |
2: 48,763,469 (GRCm39) |
V171E |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,794,451 (GRCm39) |
I491V |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,193,842 (GRCm39) |
|
probably null |
Het |
| Ak9 |
G |
T |
10: 41,258,869 (GRCm39) |
E789* |
probably null |
Het |
| Akr1c19 |
T |
A |
13: 4,293,070 (GRCm39) |
N275K |
probably benign |
Het |
| Alg1 |
A |
G |
16: 5,061,557 (GRCm39) |
H398R |
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,209 (GRCm39) |
I232N |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,954,417 (GRCm39) |
|
probably null |
Het |
| Cdhr17 |
G |
A |
5: 17,028,152 (GRCm39) |
G449D |
probably benign |
Het |
| Crnn |
T |
C |
3: 93,055,609 (GRCm39) |
C132R |
probably benign |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,553 (GRCm39) |
H337L |
probably damaging |
Het |
| Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,710,654 (GRCm39) |
N419S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,625,503 (GRCm39) |
D621G |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,694 (GRCm39) |
L448Q |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,042,987 (GRCm39) |
H1922Y |
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,095,301 (GRCm39) |
I329N |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,927,988 (GRCm39) |
V266M |
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,725 (GRCm39) |
T376A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,908,671 (GRCm38) |
T1350A |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,016,077 (GRCm39) |
E999G |
unknown |
Het |
| Hivep1 |
A |
G |
13: 42,312,407 (GRCm39) |
Q1549R |
possibly damaging |
Het |
| Hps6 |
G |
A |
19: 45,992,446 (GRCm39) |
V128M |
possibly damaging |
Het |
| Ifi27l2a |
T |
C |
12: 103,402,899 (GRCm39) |
S66P |
possibly damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,187 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,230,488 (GRCm39) |
E451G |
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,132,600 (GRCm39) |
S64T |
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,355,452 (GRCm39) |
E332V |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,374,567 (GRCm39) |
|
probably benign |
Het |
| Lrpprc |
C |
A |
17: 85,078,920 (GRCm39) |
G265C |
probably damaging |
Het |
| Nav1 |
G |
T |
1: 135,512,943 (GRCm39) |
A39E |
probably benign |
Het |
| Ogfod1 |
G |
T |
8: 94,773,906 (GRCm39) |
D103Y |
probably damaging |
Het |
| Or7g20 |
T |
G |
9: 18,946,778 (GRCm39) |
Y120D |
probably damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,285 (GRCm39) |
C162Y |
probably damaging |
Het |
| Or8g37 |
A |
G |
9: 39,731,252 (GRCm39) |
T106A |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,755,014 (GRCm39) |
S78T |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,540 (GRCm39) |
V152E |
probably damaging |
Het |
| Sdf2 |
A |
T |
11: 78,136,970 (GRCm39) |
H50L |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,700 (GRCm39) |
M116L |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,496,114 (GRCm39) |
S53P |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,528,132 (GRCm39) |
Y35C |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,686,751 (GRCm39) |
Y189F |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,729,747 (GRCm39) |
T124A |
possibly damaging |
Het |
| Strn4 |
G |
A |
7: 16,560,570 (GRCm39) |
E241K |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,135,578 (GRCm39) |
I510T |
possibly damaging |
Het |
| Svop |
T |
C |
5: 114,170,854 (GRCm39) |
D395G |
probably damaging |
Het |
| Tbc1d14 |
A |
C |
5: 36,728,888 (GRCm39) |
S159R |
probably damaging |
Het |
| Tex50 |
T |
A |
1: 160,984,848 (GRCm39) |
I131F |
possibly damaging |
Het |
| Tssk1 |
A |
G |
16: 17,712,884 (GRCm39) |
K223R |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,252,002 (GRCm39) |
I1565V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,541,938 (GRCm39) |
F33683I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,783,470 (GRCm39) |
M887V |
unknown |
Het |
| Usp45 |
G |
A |
4: 21,815,399 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
C |
T |
3: 108,498,841 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
A |
G |
9: 119,846,871 (GRCm39) |
S671P |
probably benign |
Het |
| Zbtb18 |
A |
G |
1: 177,274,682 (GRCm39) |
D5G |
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp260 |
T |
G |
7: 29,804,914 (GRCm39) |
Y271* |
probably null |
Het |
| Zfp369 |
T |
A |
13: 65,445,082 (GRCm39) |
S742T |
possibly damaging |
Het |
| Zfp786 |
A |
T |
6: 47,802,015 (GRCm39) |
D87E |
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 |
|
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 |
|
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'- CAAGCTAAGAGAGTCAGCCG -3'
(R):5'- TTCTCTGGAGCTGAGTCTCAGG -3'
Sequencing Primer
(F):5'- TCAGCCGATGGAAAAGGAAATACC -3'
(R):5'- GGCAGCCTAGATTCTCTATGAAGAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation