Incidental Mutation 'IGL01366:Nphs2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nphs2
Ensembl Gene ENSMUSG00000026602
Gene Namenephrosis 2, podocin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #IGL01366
Quality Score
Chromosomal Location156310727-156328035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 156311035 bp
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

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

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