Incidental Mutation 'IGL03379:Scn2b'
ID 420619
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) question?
Stock # IGL03379
Quality Score
Status
Chromosome 9
Chromosomal Location 45029174-45041368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45037498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 182 (C182S)
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: C182S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091377
Gene: ENSMUSG00000070304
AA Change: C182S

DomainStartEndE-ValueType
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: C182S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126826
Gene: ENSMUSG00000070304
AA Change: C182S

DomainStartEndE-ValueType
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A G 10: 69,809,602 (GRCm39) T260A probably damaging Het
Arhgap21 A G 2: 20,885,500 (GRCm39) V559A probably benign Het
Arrdc5 G A 17: 56,601,589 (GRCm39) Q179* probably null Het
Atrnl1 T C 19: 57,630,973 (GRCm39) Y247H probably benign Het
Bend5 T A 4: 111,311,468 (GRCm39) S361T probably benign Het
Cdc20b A G 13: 113,217,736 (GRCm39) D385G probably damaging Het
Cep120 C T 18: 53,842,208 (GRCm39) S709N probably benign Het
Eif2b4 A G 5: 31,347,355 (GRCm39) probably benign Het
Eif2s1 T A 12: 78,913,354 (GRCm39) D18E probably benign Het
Etl4 G A 2: 20,666,827 (GRCm39) S209N possibly damaging Het
Farp2 T A 1: 93,535,160 (GRCm39) F636L probably benign Het
Fcgbp A T 7: 27,789,342 (GRCm39) D636V possibly damaging Het
Gm5082 T C 13: 41,809,902 (GRCm39) noncoding transcript Het
Gtf2ird1 C T 5: 134,411,392 (GRCm39) G672D possibly damaging Het
Heatr3 A G 8: 88,876,738 (GRCm39) K143R probably benign Het
Hrc A G 7: 44,986,679 (GRCm39) E610G probably benign Het
Ica1l G A 1: 60,036,780 (GRCm39) S337F probably benign Het
Ighv1-43 T C 12: 114,909,625 (GRCm39) Y99C probably benign Het
Kcna3 T A 3: 106,944,521 (GRCm39) F261L probably benign Het
Kdm4d T C 9: 14,375,139 (GRCm39) R240G probably damaging Het
Kidins220 T A 12: 25,058,447 (GRCm39) I620N probably damaging Het
Kif5c A G 2: 49,591,104 (GRCm39) M55V probably damaging Het
Oas1a A T 5: 121,035,062 (GRCm39) L366Q possibly damaging Het
Or5p68 T C 7: 107,946,196 (GRCm39) probably benign Het
Pds5b T C 5: 150,711,796 (GRCm39) V918A probably damaging Het
Plcz1 G A 6: 139,936,490 (GRCm39) L580F possibly damaging Het
Prlr C A 15: 10,319,403 (GRCm39) P147T possibly damaging Het
Ptpn18 A T 1: 34,509,338 (GRCm39) probably null Het
Ptprt A T 2: 161,397,379 (GRCm39) C1109* probably null Het
Ralgapa2 A T 2: 146,199,907 (GRCm39) S1212R probably benign Het
Slc7a14 A T 3: 31,277,664 (GRCm39) M647K probably damaging Het
Sult2a6 G A 7: 13,956,511 (GRCm39) T250I probably benign Het
Syn3 A T 10: 85,900,736 (GRCm39) M384K possibly damaging Het
Tmem8b A G 4: 43,685,561 (GRCm39) T596A probably benign Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Vat1l A T 8: 115,009,006 (GRCm39) I247F probably damaging Het
Vmn2r110 T C 17: 20,803,906 (GRCm39) D223G probably damaging Het
Wdr11 T A 7: 129,200,847 (GRCm39) D99E probably damaging Het
Zan C T 5: 137,462,477 (GRCm39) V901I unknown Het
Other mutations in Scn2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Scn2b APN 9 45,036,842 (GRCm39) missense probably damaging 1.00
IGL02449:Scn2b APN 9 45,036,812 (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 2016-08-02