Incidental Mutation 'IGL00822:Scn2b'
| ID |
13933 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scn2b
|
| Ensembl Gene |
ENSMUSG00000070304 |
| Gene Name |
sodium channel, voltage-gated, type II, beta |
| Synonyms |
LOC214238, 2810451E09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
45029174-45041368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45036842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 117
(V117M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093855]
[ENSMUST00000170998]
|
| AlphaFold |
Q56A07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093855
AA Change: V117M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091377
Gene: ENSMUSG00000070304
AA Change: V117M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
IG
|
35 |
147 |
5.93e-6 |
SMART |
|
transmembrane domain
|
158 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098827
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170998
AA Change: V117M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126826
Gene: ENSMUSG00000070304
AA Change: V117M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
IG
|
35 |
147 |
5.93e-6 |
SMART |
|
transmembrane domain
|
158 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217151
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display decreased sodium channel density, altered voltage dependence of inactivation, and increased susceptibility to pilocarpine-induced seizures but appear normal in other neurological tests. Impaired glucose tolerance in homozygous mutant males is seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,988,792 (GRCm39) |
S332P |
probably benign |
Het |
| Abcb4 |
T |
C |
5: 9,000,046 (GRCm39) |
F1005L |
probably benign |
Het |
| Actr2 |
G |
A |
11: 20,044,367 (GRCm39) |
R80W |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,422,286 (GRCm39) |
I299T |
probably damaging |
Het |
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Car15 |
A |
T |
16: 17,654,498 (GRCm39) |
M146K |
probably damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,689,806 (GRCm39) |
N84S |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,165,773 (GRCm39) |
E1886* |
probably null |
Het |
| Kansl2 |
T |
C |
15: 98,426,734 (GRCm39) |
|
probably benign |
Het |
| Klc2 |
A |
T |
19: 5,161,541 (GRCm39) |
V323E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,891,111 (GRCm39) |
V352A |
probably damaging |
Het |
| Lrrc8c |
G |
T |
5: 105,756,174 (GRCm39) |
A650S |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,458,316 (GRCm39) |
Y299C |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,252,154 (GRCm39) |
T1421A |
probably damaging |
Het |
| Myl3 |
C |
A |
9: 110,595,557 (GRCm39) |
T56K |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,921,931 (GRCm39) |
Y129C |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,181,817 (GRCm39) |
L836M |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,945,304 (GRCm39) |
S2187N |
probably benign |
Het |
| Pank4 |
G |
A |
4: 155,065,059 (GRCm39) |
R786H |
possibly damaging |
Het |
| Sag |
A |
G |
1: 87,772,748 (GRCm39) |
|
probably null |
Het |
| Sec16b |
G |
T |
1: 157,392,125 (GRCm39) |
A886S |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spns3 |
A |
T |
11: 72,390,179 (GRCm39) |
|
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,625 (GRCm39) |
K350E |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,393,976 (GRCm39) |
T1291I |
probably damaging |
Het |
| Xntrpc |
A |
G |
7: 101,733,575 (GRCm39) |
I175V |
probably damaging |
Het |
| Zfp106 |
G |
A |
2: 120,344,641 (GRCm39) |
R1745C |
probably damaging |
Het |
|
| Other mutations in Scn2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02449:Scn2b
|
APN |
9 |
45,036,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03379:Scn2b
|
APN |
9 |
45,037,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2056:Scn2b
|
UTSW |
9 |
45,036,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3856:Scn2b
|
UTSW |
9 |
45,036,759 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4578:Scn2b
|
UTSW |
9 |
45,037,460 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5342:Scn2b
|
UTSW |
9 |
45,036,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6208:Scn2b
|
UTSW |
9 |
45,029,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7023:Scn2b
|
UTSW |
9 |
45,037,438 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8676:Scn2b
|
UTSW |
9 |
45,036,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9156:Scn2b
|
UTSW |
9 |
45,036,734 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2012-12-06 |
Incidental Mutation