Incidental Mutation 'R4815:Cacnb2'
| ID |
369695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb2
|
| Ensembl Gene |
ENSMUSG00000057914 |
| Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
| Synonyms |
Cchb2, Cavbeta2 |
| MMRRC Submission |
042433-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4815 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14879591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 21
(D21G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000195841]
[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 damaging
Transcript: ENSMUST00000114719
AA Change: D27G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: D27G
| 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: D71G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: D71G
| 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: ENSMUST00000123719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191903
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195841
AA Change: T32A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194921
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193800
AA Change: D21G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: D21G
| 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 |
0.1659 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
96% (76/79) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
T |
18: 65,483,026 (GRCm39) |
N327K |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,730,410 (GRCm39) |
T675A |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,106,296 (GRCm39) |
T1516A |
probably benign |
Het |
| Asb18 |
A |
T |
1: 89,942,147 (GRCm39) |
N51K |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,088,887 (GRCm39) |
V18A |
probably benign |
Het |
| Caap1 |
A |
G |
4: 94,389,497 (GRCm39) |
V279A |
probably benign |
Het |
| Ccdc171 |
T |
C |
4: 83,713,458 (GRCm39) |
S1166P |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,635,219 (GRCm39) |
H387L |
probably benign |
Het |
| Chp2 |
G |
A |
7: 121,820,123 (GRCm39) |
R91Q |
probably damaging |
Het |
| Chuk |
C |
A |
19: 44,065,686 (GRCm39) |
G703* |
probably null |
Het |
| Clmn |
T |
C |
12: 104,751,825 (GRCm39) |
D210G |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,749,839 (GRCm39) |
V270A |
possibly damaging |
Het |
| Dgcr2 |
A |
G |
16: 17,676,483 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
A |
T |
18: 38,028,256 (GRCm39) |
V411D |
unknown |
Het |
| Dkk2 |
C |
T |
3: 131,879,546 (GRCm39) |
A75V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dnase2a |
T |
C |
8: 85,636,506 (GRCm39) |
V187A |
probably benign |
Het |
| Dusp19 |
A |
G |
2: 80,461,289 (GRCm39) |
M193V |
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,733,477 (GRCm39) |
Q908L |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,660 (GRCm39) |
M119V |
possibly damaging |
Het |
| Ice2 |
C |
T |
9: 69,314,400 (GRCm39) |
R50C |
probably damaging |
Het |
| Ifi208 |
A |
T |
1: 173,510,403 (GRCm39) |
E186V |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,858,517 (GRCm39) |
K166E |
possibly damaging |
Het |
| Jcad |
T |
A |
18: 4,675,223 (GRCm39) |
L995Q |
possibly damaging |
Het |
| Kcnc4 |
A |
T |
3: 107,365,582 (GRCm39) |
C209S |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,732,553 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,980,739 (GRCm39) |
L1465F |
probably benign |
Het |
| Map3k7 |
C |
A |
4: 31,988,592 (GRCm39) |
T247N |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,909,097 (GRCm39) |
Q72P |
possibly damaging |
Het |
| Miga1 |
T |
C |
3: 151,996,443 (GRCm39) |
Y335C |
probably benign |
Het |
| Ms4a14 |
A |
T |
19: 11,291,641 (GRCm39) |
N19K |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,715,295 (GRCm39) |
R541Q |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,659,413 (GRCm39) |
T735A |
probably benign |
Het |
| Nlgn1 |
T |
A |
3: 25,490,194 (GRCm39) |
H511L |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,150,233 (GRCm39) |
E613D |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,338,037 (GRCm39) |
S247P |
probably damaging |
Het |
| Ocstamp |
A |
G |
2: 165,240,102 (GRCm39) |
V28A |
probably benign |
Het |
| Odf2 |
A |
C |
2: 29,792,252 (GRCm39) |
E155D |
possibly damaging |
Het |
| Odr4 |
A |
G |
1: 150,250,597 (GRCm39) |
C294R |
probably damaging |
Het |
| Or2ag13 |
G |
A |
7: 106,473,444 (GRCm39) |
P3S |
probably benign |
Het |
| Or8s16 |
T |
C |
15: 98,210,561 (GRCm39) |
N290S |
probably damaging |
Het |
| Otud7a |
T |
C |
7: 63,379,658 (GRCm39) |
|
probably null |
Het |
| Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
| Pcdhga5 |
G |
A |
18: 37,828,247 (GRCm39) |
V232I |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,940,352 (GRCm39) |
I439T |
possibly damaging |
Het |
| Rag1 |
A |
G |
2: 101,473,861 (GRCm39) |
V427A |
probably damaging |
Het |
| Ranbp10 |
A |
T |
8: 106,552,757 (GRCm39) |
C128* |
probably null |
Het |
| Rbm8a2 |
A |
G |
1: 175,806,024 (GRCm39) |
V151A |
probably damaging |
Het |
| S100pbp |
A |
G |
4: 129,044,726 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,384,448 (GRCm39) |
I183V |
probably benign |
Het |
| Slc25a25 |
A |
T |
2: 32,310,422 (GRCm39) |
D112E |
probably damaging |
Het |
| Slc30a5 |
C |
T |
13: 100,950,218 (GRCm39) |
V103I |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,758,009 (GRCm39) |
I183F |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,613,249 (GRCm39) |
K141N |
unknown |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,909 (GRCm39) |
|
probably benign |
Het |
| Tdpoz6 |
C |
T |
3: 93,599,593 (GRCm39) |
V259M |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,078,759 (GRCm39) |
L1498P |
probably damaging |
Het |
| Tgfbi |
T |
C |
13: 56,779,933 (GRCm39) |
M494T |
probably benign |
Het |
| Tox |
A |
G |
4: 6,823,033 (GRCm39) |
S95P |
probably benign |
Het |
| Tpr |
G |
A |
1: 150,274,359 (GRCm39) |
V163I |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,700,412 (GRCm39) |
S2P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,546,429 (GRCm39) |
M32328T |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,169,040 (GRCm39) |
N289K |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,213,210 (GRCm39) |
A847T |
probably damaging |
Het |
| Xndc1 |
G |
A |
7: 101,722,523 (GRCm39) |
G63R |
probably null |
Het |
| Ythdc2 |
A |
G |
18: 45,018,307 (GRCm39) |
S1330G |
probably benign |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,677,864 (GRCm39) |
K949N |
probably damaging |
Het |
| Zp3r |
A |
T |
1: 130,526,649 (GRCm39) |
Y185N |
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 |
|
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'- CTTGGTCCACACAGCTTACC -3'
(R):5'- AGGAGATTCAGGGGATCCATCC -3'
Sequencing Primer
(F):5'- GGTCCACACAGCTTACCTTAATG -3'
(R):5'- GGATCCATCCACAGGCAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation