Incidental Mutation 'IGL03379:Scn2b'
ID420619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scn2b
Ensembl Gene ENSMUSG00000070304
Gene Namesodium channel, voltage-gated, type II, beta
Synonyms2810451E09Rik, LOC214238
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03379
Quality Score
Status
Chromosome9
Chromosomal Location45117782-45130070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45126200 bp
ZygosityHeterozygous
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]
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: 69,973,772 T260A probably damaging Het
Arhgap21 A G 2: 20,880,689 V559A probably benign Het
Arrdc5 G A 17: 56,294,589 Q179* probably null Het
Atrnl1 T C 19: 57,642,541 Y247H probably benign Het
Bend5 T A 4: 111,454,271 S361T probably benign Het
Cdc20b A G 13: 113,081,202 D385G probably damaging Het
Cep120 C T 18: 53,709,136 S709N probably benign Het
Eif2b4 A G 5: 31,190,011 probably benign Het
Eif2s1 T A 12: 78,866,580 D18E probably benign Het
Etl4 G A 2: 20,662,016 S209N possibly damaging Het
Farp2 T A 1: 93,607,438 F636L probably benign Het
Fcgbp A T 7: 28,089,917 D636V possibly damaging Het
Gm5082 T C 13: 41,656,426 noncoding transcript Het
Gtf2ird1 C T 5: 134,382,538 G672D possibly damaging Het
Heatr3 A G 8: 88,150,110 K143R probably benign Het
Hrc A G 7: 45,337,255 E610G probably benign Het
Ica1l G A 1: 59,997,621 S337F probably benign Het
Ighv1-43 T C 12: 114,946,005 Y99C probably benign Het
Kcna3 T A 3: 107,037,205 F261L probably benign Het
Kdm4d T C 9: 14,463,843 R240G probably damaging Het
Kidins220 T A 12: 25,008,448 I620N probably damaging Het
Kif5c A G 2: 49,701,092 M55V probably damaging Het
Oas1a A T 5: 120,896,999 L366Q possibly damaging Het
Olfr493 T C 7: 108,346,989 probably benign Het
Pds5b T C 5: 150,788,331 V918A probably damaging Het
Plcz1 G A 6: 139,990,764 L580F possibly damaging Het
Prlr C A 15: 10,319,317 P147T possibly damaging Het
Ptpn18 A T 1: 34,470,257 probably null Het
Ptprt A T 2: 161,555,459 C1109* probably null Het
Ralgapa2 A T 2: 146,357,987 S1212R probably benign Het
Slc7a14 A T 3: 31,223,515 M647K probably damaging Het
Sult2a6 G A 7: 14,222,586 T250I probably benign Het
Syn3 A T 10: 86,064,872 M384K possibly damaging Het
Tmem8b A G 4: 43,685,561 T596A probably benign Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vat1l A T 8: 114,282,266 I247F probably damaging Het
Vmn2r110 T C 17: 20,583,644 D223G probably damaging Het
Wdr11 T A 7: 129,599,123 D99E probably damaging Het
Zan C T 5: 137,464,215 V901I unknown Het
Other mutations in Scn2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Scn2b APN 9 45125544 missense probably damaging 1.00
IGL02449:Scn2b APN 9 45125514 missense probably damaging 1.00
R2056:Scn2b UTSW 9 45125517 missense probably damaging 0.98
R3856:Scn2b UTSW 9 45125461 missense possibly damaging 0.89
R4578:Scn2b UTSW 9 45126162 missense possibly damaging 0.87
R5342:Scn2b UTSW 9 45125518 missense probably damaging 1.00
R6208:Scn2b UTSW 9 45118030 missense probably benign 0.01
R7023:Scn2b UTSW 9 45126140 missense probably damaging 0.97
Posted On2016-08-02