Incidental Mutation 'R2471:Cacnb2'
| ID |
253063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb2
|
| Ensembl Gene |
ENSMUSG00000057914 |
| Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
| Synonyms |
Cchb2, Cavbeta2 |
| MMRRC Submission |
040403-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2471 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 14989125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 402
(D402N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000193800]
|
| AlphaFold |
Q8CC27 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114719
AA Change: D408N
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: D408N
| 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 damaging
Transcript: ENSMUST00000114723
AA Change: D452N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: D452N
| 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: ENSMUST00000144423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193452
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193522
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193800
AA Change: D402N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: D402N
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
T |
9: 55,888,147 (GRCm39) |
M390K |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,257 (GRCm39) |
S1395P |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,261,776 (GRCm39) |
D907V |
probably damaging |
Het |
| Cstl1 |
T |
A |
2: 148,593,041 (GRCm39) |
Y65* |
probably null |
Het |
| Dnajc1 |
T |
C |
2: 18,224,627 (GRCm39) |
I213V |
possibly damaging |
Het |
| Emcn |
C |
T |
3: 137,109,772 (GRCm39) |
T138M |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,518,689 (GRCm39) |
W51L |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,040,192 (GRCm39) |
Y41C |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,856 (GRCm39) |
D230E |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,986 (GRCm39) |
V191M |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,531 (GRCm39) |
E230G |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,247,307 (GRCm39) |
E340G |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,903,620 (GRCm39) |
I62V |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,067,244 (GRCm39) |
K588R |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,810,909 (GRCm39) |
K52* |
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,309,756 (GRCm39) |
F310L |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,250,501 (GRCm39) |
S605F |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,300,599 (GRCm39) |
T246S |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,181,944 (GRCm39) |
S212R |
possibly damaging |
Het |
| Or5b97 |
G |
A |
19: 12,878,679 (GRCm39) |
T155I |
probably benign |
Het |
| Pcdh20 |
T |
G |
14: 88,704,672 (GRCm39) |
E876A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,768,370 (GRCm39) |
A2215V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,210,327 (GRCm38) |
Y128H |
probably damaging |
Het |
| Sigirr |
A |
G |
7: 140,672,510 (GRCm39) |
L204S |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,540,706 (GRCm39) |
Y187F |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,312 (GRCm39) |
R86W |
probably null |
Het |
| Smc1b |
T |
C |
15: 84,976,218 (GRCm39) |
K830E |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,872,642 (GRCm39) |
N427D |
possibly damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,289 (GRCm39) |
F48L |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,474,272 (GRCm39) |
E319G |
probably damaging |
Het |
| Try10 |
T |
C |
6: 41,333,680 (GRCm39) |
S142P |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,644 (GRCm39) |
T626A |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,950 (GRCm39) |
E602G |
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 |
|
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 |
|
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'- CTAAGAGAGTCAGCCGATGG -3'
(R):5'- TTCTCTGGAGCTGAGTCTCAGG -3'
Sequencing Primer
(F):5'- TCAGCCGATGGAAAAGGAAATACC -3'
(R):5'- AGCTGAGTCTCAGGGGCATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation