Incidental Mutation 'IGL01366:Nphs2'
ID75937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nphs2
Ensembl Gene ENSMUSG00000026602
Gene Namenephrosis 2, podocin
Synonymspodocin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #IGL01366
Quality Score
Status
Chromosome1
Chromosomal Location156310727-156328035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 156311035 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 83 (V83A)
Ref Sequence ENSEMBL: ENSMUSP00000027896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027896] [ENSMUST00000193020]
Predicted Effect probably benign
Transcript: ENSMUST00000027896
AA Change: V83A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027896
Gene: ENSMUSG00000026602
AA Change: V83A

DomainStartEndE-ValueType
low complexity region 2 43 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
PHB 125 284 7.31e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193020
AA Change: V8A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141328
Gene: ENSMUSG00000026602
AA Change: V8A

DomainStartEndE-ValueType
PHB 50 201 7.6e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display kidney glomerular defects leading to blood and urine chemistry abnormalities. Death usually occurs before 5 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,950,700 probably benign Het
Adamts2 T C 11: 50,796,468 Y1041H probably damaging Het
Adck5 A C 15: 76,595,616 *568C probably null Het
AK157302 T A 13: 21,495,301 probably benign Het
Bmpr2 G T 1: 59,813,677 G56W probably damaging Het
Capn11 A C 17: 45,653,200 I146S probably damaging Het
Ccdc162 A T 10: 41,580,306 D1613E possibly damaging Het
Ccdc167 T C 17: 29,705,312 E50G probably damaging Het
Col5a2 G T 1: 45,391,888 P864Q possibly damaging Het
Col7a1 C T 9: 108,977,119 probably benign Het
Crebbp T A 16: 4,126,506 H556L probably damaging Het
Dcpp1 T A 17: 23,882,736 I153N possibly damaging Het
Dgke C T 11: 89,055,386 R196H probably benign Het
Efr3a T A 15: 65,851,150 I459K probably benign Het
Espl1 T A 15: 102,319,836 C1682S probably benign Het
Exosc3 C T 4: 45,317,747 R185H probably damaging Het
Fam160b2 G A 14: 70,585,373 R688C probably damaging Het
Fgd6 T C 10: 94,043,476 V64A possibly damaging Het
Gata3 A G 2: 9,877,465 L42P probably damaging Het
Ggta1 C A 2: 35,402,450 E282* probably null Het
Ghr T C 15: 3,320,187 D503G probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Gm2058 A G 7: 39,589,234 noncoding transcript Het
Grb7 T C 11: 98,452,274 probably benign Het
Ifngr1 A T 10: 19,609,600 H449L probably damaging Het
Ighg2b T G 12: 113,307,036 D158A possibly damaging Het
Parp6 T A 9: 59,636,713 M390K possibly damaging Het
Pask T C 1: 93,310,852 K1304E probably benign Het
Scai A G 2: 39,106,961 S274P probably benign Het
Sik2 A G 9: 50,907,463 S404P probably damaging Het
Slc7a8 A T 14: 54,781,188 I47N probably damaging Het
Tas2r113 A T 6: 132,893,797 I263F probably benign Het
Tdrd1 T A 19: 56,855,302 D737E probably benign Het
Trio T C 15: 27,732,868 T2976A possibly damaging Het
Ttc28 T C 5: 111,085,171 probably null Het
Vmn1r21 A G 6: 57,843,814 I215T probably benign Het
Other mutations in Nphs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03206:Nphs2 APN 1 156326131 missense probably damaging 0.99
R0654:Nphs2 UTSW 1 156318747 missense probably damaging 1.00
R1265:Nphs2 UTSW 1 156318747 missense probably damaging 1.00
R1681:Nphs2 UTSW 1 156320898 missense probably damaging 1.00
R2033:Nphs2 UTSW 1 156323738 missense probably damaging 1.00
R3767:Nphs2 UTSW 1 156313038 missense probably damaging 0.96
R4610:Nphs2 UTSW 1 156326131 missense probably damaging 0.99
R4930:Nphs2 UTSW 1 156320929 missense probably damaging 1.00
R5694:Nphs2 UTSW 1 156326037 missense probably benign 0.01
R6131:Nphs2 UTSW 1 156325951 missense probably damaging 1.00
R6147:Nphs2 UTSW 1 156318726 nonsense probably null
R6454:Nphs2 UTSW 1 156318767 missense probably damaging 1.00
R6716:Nphs2 UTSW 1 156321067 missense probably benign 0.02
R8037:Nphs2 UTSW 1 156310830 missense possibly damaging 0.53
RF048:Nphs2 UTSW 1 156310971 unclassified probably benign
Posted On2013-10-07