Incidental Mutation 'R9626:Nphs1'
ID 725149
Institutional Source Beutler Lab
Gene Symbol Nphs1
Ensembl Gene ENSMUSG00000006649
Gene Name nephrosis 1, nephrin
Synonyms nephrin
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9626 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30157740-30186648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30166991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 747 (K747E)
Ref Sequence ENSEMBL: ENSMUSP00000006825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006825] [ENSMUST00000126297]
AlphaFold Q9QZS7
Predicted Effect probably benign
Transcript: ENSMUST00000006825
AA Change: K747E

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649
AA Change: K747E

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 probably benign
Transcript: ENSMUST00000126297
AA Change: K733E

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649
AA Change: K733E

DomainStartEndE-ValueType
IG 38 132 1.38e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,127,502 (GRCm39) N37I unknown Het
Abca9 T A 11: 110,011,606 (GRCm39) T1146S probably benign Het
Acnat2 G A 4: 49,380,179 (GRCm39) H400Y probably damaging Het
Adgrd1 T C 5: 129,275,721 (GRCm39) S768P probably damaging Het
Arap2 T A 5: 62,906,878 (GRCm39) H47L probably benign Het
Atxn1 T A 13: 45,710,796 (GRCm39) N712I possibly damaging Het
Bri3bp T A 5: 125,531,572 (GRCm39) S173T probably damaging Het
Camta1 A T 4: 151,168,287 (GRCm39) S254R probably damaging Het
Card9 T C 2: 26,247,294 (GRCm39) E285G probably benign Het
Celf2 G A 2: 6,590,835 (GRCm39) A320V probably benign Het
Celsr3 T C 9: 108,726,521 (GRCm39) I3250T probably damaging Het
Cfap46 C T 7: 139,230,805 (GRCm39) R941H Het
Cntrob T C 11: 69,202,167 (GRCm39) H475R possibly damaging Het
Dcaf6 G A 1: 165,227,264 (GRCm39) R288* probably null Het
Ebna1bp2 G A 4: 118,478,371 (GRCm39) probably benign Het
Erich3 A T 3: 154,444,730 (GRCm39) D302V probably benign Het
Fbxo48 T A 11: 16,904,333 (GRCm39) *162K probably null Het
Fyttd1 T C 16: 32,725,915 (GRCm39) L290S probably damaging Het
Gcc1 T C 6: 28,418,917 (GRCm39) D472G probably damaging Het
Gjb4 C T 4: 127,246,081 (GRCm39) probably benign Het
Gm5157 G T 7: 20,919,396 (GRCm39) T49K probably damaging Het
Gpr143 GTTTTTT GTTTTTTT X: 151,578,627 (GRCm39) probably null Het
Hnrnpm G T 17: 33,896,264 (GRCm39) D88E probably damaging Het
Hormad2 G A 11: 4,377,372 (GRCm39) P22L probably damaging Het
Hunk C T 16: 90,272,791 (GRCm39) T365M probably damaging Het
Lamb1 A G 12: 31,354,669 (GRCm39) D972G probably benign Het
Mamdc4 A G 2: 25,458,273 (GRCm39) L379P probably damaging Het
Mcrs1 A G 15: 99,146,353 (GRCm39) L179P probably damaging Het
Mterf2 C T 10: 84,956,295 (GRCm39) A110T probably benign Het
Mucl1 A G 15: 103,783,934 (GRCm39) S91P possibly damaging Het
Myo1d C A 11: 80,448,296 (GRCm39) G943V possibly damaging Het
Ndst4 A C 3: 125,476,829 (GRCm39) D18A probably damaging Het
Ndufv1 A T 19: 4,058,064 (GRCm39) C382* probably null Het
Npc1l1 T C 11: 6,177,854 (GRCm39) K519E probably benign Het
Nubp2 C G 17: 25,103,374 (GRCm39) probably null Het
Odad2 G T 18: 7,211,422 (GRCm39) C817* probably null Het
Or13a19 T C 7: 139,903,236 (GRCm39) V208A probably benign Het
Or5b97 A T 19: 12,878,600 (GRCm39) D181E possibly damaging Het
Or7a36 T G 10: 78,820,213 (GRCm39) D196E probably benign Het
Or7a40 A G 16: 16,491,491 (GRCm39) M118T probably damaging Het
Or8b48 A G 9: 38,492,977 (GRCm39) T135A probably benign Het
Pcdhac2 T G 18: 37,279,555 (GRCm39) L845R probably damaging Het
Pcdhb14 A C 18: 37,581,787 (GRCm39) T298P probably damaging Het
Phldb2 A T 16: 45,592,547 (GRCm39) L957Q possibly damaging Het
Pole A G 5: 110,459,959 (GRCm39) D1121G possibly damaging Het
Ppp1r3g C A 13: 36,153,612 (GRCm39) T344K probably benign Het
Prpf8 A G 11: 75,385,681 (GRCm39) K954R possibly damaging Het
Prr15l C A 11: 96,825,440 (GRCm39) Y23* probably null Het
Sap18b A G 8: 96,552,098 (GRCm39) E36G possibly damaging Het
Slc46a2 A T 4: 59,914,241 (GRCm39) F227L probably benign Het
Spata13 C T 14: 60,944,349 (GRCm39) P581S probably benign Het
Spmip4 T A 6: 50,550,930 (GRCm39) K506N Het
Ssc5d C A 7: 4,946,568 (GRCm39) T974K probably benign Het
Tenm4 C A 7: 96,545,345 (GRCm39) R2491S probably damaging Het
Tex2 T C 11: 106,437,579 (GRCm39) E697G unknown Het
Tmem44 A T 16: 30,366,226 (GRCm39) F67I possibly damaging Het
Trpm6 A T 19: 18,790,846 (GRCm39) Q627L probably damaging Het
Ttc39a A G 4: 109,278,570 (GRCm39) D77G possibly damaging Het
Ttc9 A G 12: 81,710,301 (GRCm39) I198V probably benign Het
Ttn C T 2: 76,661,550 (GRCm39) V11942M unknown Het
Uqcrc2 T A 7: 120,237,118 (GRCm39) Y55* probably null Het
Vmn1r160 A T 7: 22,571,273 (GRCm39) M209L probably benign Het
Vmn2r50 A T 7: 9,771,960 (GRCm39) C580* probably null Het
Vmn2r96 A G 17: 18,793,758 (GRCm39) E34G probably benign Het
Zmynd8 C T 2: 165,654,268 (GRCm39) probably null 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
R1144:Nphs1 UTSW 7 30,181,103 (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
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 PCR Primer
(F):5'- GTTCAGATTCAGGAGGCTGG -3'
(R):5'- GCTTGCCCTTTATGGAAGAGAATTC -3'

Sequencing Primer
(F):5'- CTGGGCGGGACTTCCAG -3'
(R):5'- GCCCTTTATGGAAGAGAATTCTCAAG -3'
Posted On 2022-09-12