Incidental Mutation 'R1144:Nphs1'
ID 102270
Institutional Source Beutler Lab
Gene Symbol Nphs1
Ensembl Gene ENSMUSG00000006649
Gene Name nephrosis 1, nephrin
Synonyms nephrin
MMRRC Submission 039217-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1144 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30157740-30186648 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 30181103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000006825] [ENSMUST00000126297]
AlphaFold Q9QZS7
Predicted Effect probably benign
Transcript: ENSMUST00000006825
SMART Domains Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
IG 52 146 1.38e-6 SMART
Pfam:C2-set_2 152 242 4.1e-20 PFAM
IG 264 351 9.86e-3 SMART
IG_like 360 452 2.73e1 SMART
IG 464 556 2.99e-2 SMART
IG_like 572 644 8.9e-1 SMART
IG 667 751 1.32e-3 SMART
IG 760 849 7.3e-6 SMART
IGc2 868 941 5.4e-9 SMART
FN3 955 1036 1.01e-11 SMART
transmembrane domain 1078 1100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123880
Predicted Effect probably benign
Transcript: ENSMUST00000126297
SMART Domains Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649

DomainStartEndE-ValueType
IG 38 132 1.38e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131004
Predicted Effect probably benign
Transcript: ENSMUST00000149086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208689
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,960,083 (GRCm39) probably benign Het
Abcc5 A T 16: 20,241,188 (GRCm39) probably benign Het
Acsl5 A C 19: 55,280,275 (GRCm39) D516A probably damaging Het
Adcy1 G A 11: 7,087,400 (GRCm39) A425T probably damaging Het
Aebp1 A G 11: 5,818,475 (GRCm39) T107A probably benign Het
Arhgef33 T C 17: 80,662,473 (GRCm39) S219P probably benign Het
Atm T G 9: 53,422,998 (GRCm39) probably benign Het
C1ql2 A C 1: 120,270,266 (GRCm39) Y276S probably damaging Het
Cacna2d1 T C 5: 16,527,595 (GRCm39) probably null Het
Cmbl A G 15: 31,582,020 (GRCm39) N6D probably benign Het
Cntn3 A G 6: 102,219,087 (GRCm39) V511A possibly damaging Het
Coq9 C A 8: 95,569,251 (GRCm39) R28S probably benign Het
Creld1 T C 6: 113,460,922 (GRCm39) F20S probably benign Het
Dcstamp A G 15: 39,623,764 (GRCm39) K404E possibly damaging Het
Dip2b T A 15: 100,052,131 (GRCm39) I244K probably benign Het
Dnhd1 G A 7: 105,362,238 (GRCm39) E3700K probably damaging Het
Dnmt3l T A 10: 77,887,739 (GRCm39) C110S probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr1 T G 8: 26,048,159 (GRCm39) V172G probably damaging Het
Frem3 C A 8: 81,338,513 (GRCm39) Q269K probably benign Het
Frmd6 C A 12: 70,923,942 (GRCm39) H67N probably damaging Het
Fry A G 5: 150,341,929 (GRCm39) T1532A possibly damaging Het
Git2 G T 5: 114,891,375 (GRCm39) S243R probably benign Het
Grid1 A G 14: 35,284,633 (GRCm39) probably benign Het
Grp A G 18: 66,013,041 (GRCm39) D69G probably damaging Het
Hmbox1 A T 14: 65,063,132 (GRCm39) L347Q probably damaging Het
Hsh2d C T 8: 72,947,436 (GRCm39) probably benign Het
Itpr3 G A 17: 27,333,897 (GRCm39) S2018N probably benign Het
Kif13b T A 14: 64,951,566 (GRCm39) V69D probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lmcd1 T A 6: 112,287,712 (GRCm39) probably benign Het
Megf9 C A 4: 70,452,861 (GRCm39) A67S probably benign Het
Myo5b G A 18: 74,758,658 (GRCm39) R213H probably damaging Het
Myo5c T A 9: 75,193,730 (GRCm39) Y1162N probably damaging Het
Ntrk1 G A 3: 87,688,849 (GRCm39) T568I probably damaging Het
Pcmtd1 A G 1: 7,190,705 (GRCm39) H58R probably damaging Het
Plaat5 A G 19: 7,590,695 (GRCm39) D74G probably benign Het
Plxna4 A T 6: 32,174,091 (GRCm39) I1168N possibly damaging Het
Ppm1h A G 10: 122,777,183 (GRCm39) D483G probably benign Het
Prdm15 G A 16: 97,609,908 (GRCm39) R579C probably damaging Het
Prickle1 T A 15: 93,410,342 (GRCm39) R41W probably damaging Het
Rbm19 A G 5: 120,261,081 (GRCm39) D235G possibly damaging Het
Smco2 A G 6: 146,772,638 (GRCm39) probably benign Het
Sned1 G C 1: 93,208,298 (GRCm39) G785R probably damaging Het
Stat4 A G 1: 52,123,288 (GRCm39) probably benign Het
Syne2 T A 12: 76,013,298 (GRCm39) F2830I probably benign Het
Tbc1d9 A G 8: 83,963,200 (GRCm39) D304G possibly damaging Het
Thsd7a G A 6: 12,471,026 (GRCm39) probably benign Het
Tmem63b T A 17: 45,977,353 (GRCm39) K383N probably benign Het
Trp53rka C A 2: 165,334,961 (GRCm39) probably benign Het
Trub1 G A 19: 57,473,563 (GRCm39) V207M probably benign Het
Ulk2 A T 11: 61,690,886 (GRCm39) C551S possibly damaging Het
Urb1 A T 16: 90,573,206 (GRCm39) probably null Het
Vmn1r219 C A 13: 23,347,383 (GRCm39) Q191K probably damaging Het
Vmn2r1 A T 3: 63,997,541 (GRCm39) D399V probably damaging Het
Vmn2r87 A G 10: 130,312,098 (GRCm39) probably benign Het
Wars1 A T 12: 108,854,291 (GRCm39) L41* probably null Het
Washc2 G A 6: 116,201,495 (GRCm39) E64K probably damaging Het
Washc4 G A 10: 83,416,194 (GRCm39) R828Q probably damaging Het
Wdr59 A T 8: 112,213,576 (GRCm39) M313K probably benign Het
Wscd2 G A 5: 113,699,151 (GRCm39) probably null Het
Zdhhc20 A C 14: 58,094,135 (GRCm39) L176V probably benign Het
Other mutations in Nphs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Nphs1 APN 7 30,181,976 (GRCm39) missense possibly damaging 0.77
IGL00927:Nphs1 APN 7 30,160,164 (GRCm39) unclassified probably benign
IGL00976:Nphs1 APN 7 30,160,110 (GRCm39) missense possibly damaging 0.78
IGL01397:Nphs1 APN 7 30,186,089 (GRCm39) missense probably benign 0.01
IGL01465:Nphs1 APN 7 30,186,139 (GRCm39) makesense probably null
IGL01889:Nphs1 APN 7 30,159,936 (GRCm39) missense probably damaging 1.00
IGL02383:Nphs1 APN 7 30,181,060 (GRCm39) splice site probably benign
R0020:Nphs1 UTSW 7 30,162,633 (GRCm39) missense probably benign 0.01
R0485:Nphs1 UTSW 7 30,166,940 (GRCm39) missense probably benign
R1024:Nphs1 UTSW 7 30,173,702 (GRCm39) missense probably damaging 1.00
R1115:Nphs1 UTSW 7 30,180,803 (GRCm39) splice site probably benign
R1289:Nphs1 UTSW 7 30,170,603 (GRCm39) missense probably damaging 1.00
R1317:Nphs1 UTSW 7 30,181,256 (GRCm39) splice site probably benign
R1617:Nphs1 UTSW 7 30,181,956 (GRCm39) missense probably benign
R1756:Nphs1 UTSW 7 30,160,959 (GRCm39) missense probably benign 0.00
R1937:Nphs1 UTSW 7 30,173,798 (GRCm39) missense probably damaging 1.00
R2144:Nphs1 UTSW 7 30,160,395 (GRCm39) missense probably benign 0.13
R2256:Nphs1 UTSW 7 30,167,417 (GRCm39) missense possibly damaging 0.94
R2257:Nphs1 UTSW 7 30,167,417 (GRCm39) missense possibly damaging 0.94
R2277:Nphs1 UTSW 7 30,166,989 (GRCm39) nonsense probably null
R3104:Nphs1 UTSW 7 30,166,965 (GRCm39) nonsense probably null
R3106:Nphs1 UTSW 7 30,166,965 (GRCm39) nonsense probably null
R3151:Nphs1 UTSW 7 30,159,665 (GRCm39) missense probably benign
R3765:Nphs1 UTSW 7 30,170,635 (GRCm39) missense probably damaging 0.98
R4078:Nphs1 UTSW 7 30,166,945 (GRCm39) nonsense probably null
R4397:Nphs1 UTSW 7 30,181,390 (GRCm39) splice site probably null
R4635:Nphs1 UTSW 7 30,167,432 (GRCm39) missense probably benign 0.39
R4650:Nphs1 UTSW 7 30,181,895 (GRCm39) missense probably benign 0.21
R4811:Nphs1 UTSW 7 30,159,854 (GRCm39) missense probably damaging 1.00
R4850:Nphs1 UTSW 7 30,162,657 (GRCm39) missense possibly damaging 0.78
R5272:Nphs1 UTSW 7 30,181,067 (GRCm39) missense possibly damaging 0.86
R5327:Nphs1 UTSW 7 30,163,250 (GRCm39) missense probably benign 0.00
R5681:Nphs1 UTSW 7 30,186,050 (GRCm39) missense probably benign 0.00
R5865:Nphs1 UTSW 7 30,173,810 (GRCm39) missense probably damaging 1.00
R5975:Nphs1 UTSW 7 30,165,540 (GRCm39) missense possibly damaging 0.82
R6186:Nphs1 UTSW 7 30,165,059 (GRCm39) missense probably damaging 0.98
R6198:Nphs1 UTSW 7 30,167,340 (GRCm39) missense probably damaging 0.97
R6353:Nphs1 UTSW 7 30,173,969 (GRCm39) missense probably damaging 0.99
R7405:Nphs1 UTSW 7 30,162,253 (GRCm39) missense possibly damaging 0.46
R7647:Nphs1 UTSW 7 30,181,390 (GRCm39) splice site probably null
R7767:Nphs1 UTSW 7 30,162,733 (GRCm39) missense probably damaging 1.00
R8132:Nphs1 UTSW 7 30,181,478 (GRCm39) missense probably benign 0.02
R8485:Nphs1 UTSW 7 30,165,598 (GRCm39) missense probably damaging 0.98
R8678:Nphs1 UTSW 7 30,163,284 (GRCm39) missense probably damaging 1.00
R8890:Nphs1 UTSW 7 30,162,080 (GRCm39) missense probably damaging 1.00
R8946:Nphs1 UTSW 7 30,162,625 (GRCm39) missense probably damaging 1.00
R9133:Nphs1 UTSW 7 30,160,092 (GRCm39) nonsense probably null
R9159:Nphs1 UTSW 7 30,165,026 (GRCm39) missense possibly damaging 0.93
R9347:Nphs1 UTSW 7 30,170,594 (GRCm39) missense probably damaging 1.00
R9547:Nphs1 UTSW 7 30,180,875 (GRCm39) missense probably benign 0.00
R9548:Nphs1 UTSW 7 30,180,875 (GRCm39) missense probably benign 0.00
R9607:Nphs1 UTSW 7 30,163,012 (GRCm39) missense probably damaging 1.00
R9626:Nphs1 UTSW 7 30,166,991 (GRCm39) missense probably benign 0.16
R9720:Nphs1 UTSW 7 30,165,499 (GRCm39) missense possibly damaging 0.83
R9733:Nphs1 UTSW 7 30,166,955 (GRCm39) missense probably damaging 1.00
X0028:Nphs1 UTSW 7 30,166,929 (GRCm39) missense probably null 0.01
Z1177:Nphs1 UTSW 7 30,170,328 (GRCm39) missense probably damaging 1.00
Z1186:Nphs1 UTSW 7 30,159,775 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15