Incidental Mutation 'IGL01366:Nphs2'
ID 75937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nphs2
Ensembl Gene ENSMUSG00000026602
Gene Name nephrosis 2, podocin
Synonyms podocin
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # IGL01366
Quality Score
Status
Chromosome 1
Chromosomal Location 156138297-156155605 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156138605 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91X05
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: 73,868,937 (GRCm39) probably benign Het
Adamts2 T C 11: 50,687,295 (GRCm39) Y1041H probably damaging Het
Adck5 A C 15: 76,479,816 (GRCm39) *568C probably null Het
AK157302 T A 13: 21,679,471 (GRCm39) probably benign Het
Bmpr2 G T 1: 59,852,836 (GRCm39) G56W probably damaging Het
Capn11 A C 17: 45,964,126 (GRCm39) I146S probably damaging Het
Ccdc162 A T 10: 41,456,302 (GRCm39) D1613E possibly damaging Het
Ccdc167 T C 17: 29,924,286 (GRCm39) E50G probably damaging Het
Col5a2 G T 1: 45,431,048 (GRCm39) P864Q possibly damaging Het
Col7a1 C T 9: 108,806,187 (GRCm39) probably benign Het
Crebbp T A 16: 3,944,370 (GRCm39) H556L probably damaging Het
Dcpp1 T A 17: 24,101,710 (GRCm39) I153N possibly damaging Het
Dgke C T 11: 88,946,212 (GRCm39) R196H probably benign Het
Efr3a T A 15: 65,722,999 (GRCm39) I459K probably benign Het
Espl1 T A 15: 102,228,271 (GRCm39) C1682S probably benign Het
Exosc3 C T 4: 45,317,747 (GRCm39) R185H probably damaging Het
Fgd6 T C 10: 93,879,338 (GRCm39) V64A possibly damaging Het
Fhip2b G A 14: 70,822,813 (GRCm39) R688C probably damaging Het
Gata3 A G 2: 9,882,276 (GRCm39) L42P probably damaging Het
Ggta1 C A 2: 35,292,462 (GRCm39) E282* probably null Het
Ghr T C 15: 3,349,669 (GRCm39) D503G probably damaging Het
Gls C T 1: 52,207,558 (GRCm39) G602D probably damaging Het
Gm2058 A G 7: 39,238,658 (GRCm39) noncoding transcript Het
Grb7 T C 11: 98,343,100 (GRCm39) probably benign Het
Ifngr1 A T 10: 19,485,348 (GRCm39) H449L probably damaging Het
Ighg2b T G 12: 113,270,656 (GRCm39) D158A possibly damaging Het
Parp6 T A 9: 59,543,996 (GRCm39) M390K possibly damaging Het
Pask T C 1: 93,238,574 (GRCm39) K1304E probably benign Het
Scai A G 2: 38,996,973 (GRCm39) S274P probably benign Het
Sik2 A G 9: 50,818,763 (GRCm39) S404P probably damaging Het
Slc7a8 A T 14: 55,018,645 (GRCm39) I47N probably damaging Het
Tas2r113 A T 6: 132,870,760 (GRCm39) I263F probably benign Het
Tdrd1 T A 19: 56,843,734 (GRCm39) D737E probably benign Het
Trio T C 15: 27,732,954 (GRCm39) T2976A possibly damaging Het
Ttc28 T C 5: 111,233,037 (GRCm39) probably null Het
Vmn1r21 A G 6: 57,820,799 (GRCm39) I215T probably benign Het
Other mutations in Nphs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03206:Nphs2 APN 1 156,153,701 (GRCm39) missense probably damaging 0.99
R0654:Nphs2 UTSW 1 156,146,317 (GRCm39) missense probably damaging 1.00
R1265:Nphs2 UTSW 1 156,146,317 (GRCm39) missense probably damaging 1.00
R1681:Nphs2 UTSW 1 156,148,468 (GRCm39) missense probably damaging 1.00
R2033:Nphs2 UTSW 1 156,151,308 (GRCm39) missense probably damaging 1.00
R3767:Nphs2 UTSW 1 156,140,608 (GRCm39) missense probably damaging 0.96
R4610:Nphs2 UTSW 1 156,153,701 (GRCm39) missense probably damaging 0.99
R4930:Nphs2 UTSW 1 156,148,499 (GRCm39) missense probably damaging 1.00
R5694:Nphs2 UTSW 1 156,153,607 (GRCm39) missense probably benign 0.01
R6131:Nphs2 UTSW 1 156,153,521 (GRCm39) missense probably damaging 1.00
R6147:Nphs2 UTSW 1 156,146,296 (GRCm39) nonsense probably null
R6454:Nphs2 UTSW 1 156,146,337 (GRCm39) missense probably damaging 1.00
R6716:Nphs2 UTSW 1 156,148,637 (GRCm39) missense probably benign 0.02
R8037:Nphs2 UTSW 1 156,138,400 (GRCm39) missense possibly damaging 0.53
R9029:Nphs2 UTSW 1 156,140,592 (GRCm39) missense probably benign 0.00
R9192:Nphs2 UTSW 1 156,138,386 (GRCm39) missense probably benign 0.00
R9249:Nphs2 UTSW 1 156,144,416 (GRCm39) missense probably damaging 1.00
R9274:Nphs2 UTSW 1 156,144,416 (GRCm39) missense probably damaging 1.00
RF048:Nphs2 UTSW 1 156,138,541 (GRCm39) unclassified probably benign
Posted On 2013-10-07