Incidental Mutation 'R9347:Nphs1'
ID 707847
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 # R9347 (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 30170594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 928 (D928G)
Ref Sequence ENSEMBL: ENSMUSP00000006825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006825] [ENSMUST00000126297]
AlphaFold Q9QZS7
Predicted Effect probably damaging
Transcript: ENSMUST00000006825
AA Change: D928G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649
AA Change: D928G

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 damaging
Transcript: ENSMUST00000126297
AA Change: D914G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649
AA Change: D914G

DomainStartEndE-ValueType
IG 38 132 1.38e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,483,479 (GRCm39) M1659K probably benign Het
Ace C A 11: 105,864,958 (GRCm39) Q544K probably damaging Het
Agpat4 A G 17: 12,429,168 (GRCm39) E140G possibly damaging Het
Akap12 A G 10: 4,303,640 (GRCm39) D150G probably benign Het
Akap6 A G 12: 53,115,894 (GRCm39) Y999C probably damaging Het
Ank1 A G 8: 23,607,076 (GRCm39) I1326V possibly damaging Het
Apold1 T A 6: 134,960,999 (GRCm39) L151Q probably damaging Het
Bmal1 A G 7: 112,898,487 (GRCm39) D305G possibly damaging Het
Brsk2 A G 7: 141,552,133 (GRCm39) S564G probably damaging Het
Ceacam18 T C 7: 43,294,915 (GRCm39) V325A possibly damaging Het
Clstn2 T C 9: 97,464,654 (GRCm39) Y167C probably damaging Het
Cyp11a1 G T 9: 57,928,141 (GRCm39) V324L possibly damaging Het
Ddx27 A G 2: 166,861,950 (GRCm39) T151A possibly damaging Het
Dhrs4 A G 14: 55,727,306 (GRCm39) I252M possibly damaging Het
Dlg2 A G 7: 91,360,900 (GRCm39) D6G probably benign Het
Dnah8 G A 17: 30,927,333 (GRCm39) E1330K probably benign Het
Ehd3 A G 17: 74,137,391 (GRCm39) E520G probably benign Het
Epha5 A G 5: 84,479,731 (GRCm39) V91A possibly damaging Het
Fam20c C A 5: 138,743,676 (GRCm39) H237Q probably benign Het
Fam217a C T 13: 35,094,662 (GRCm39) G366S probably damaging Het
Fancf T C 7: 51,511,359 (GRCm39) E215G probably benign Het
Fermt3 A T 19: 6,980,664 (GRCm39) I301N probably damaging Het
Fyco1 A T 9: 123,660,350 (GRCm39) probably null Het
Gen1 T C 12: 11,311,068 (GRCm39) N55D probably damaging Het
Gm20604 A T 12: 102,709,636 (GRCm39) C75S unknown Het
Gm3045 T A 13: 56,578,160 (GRCm39) V199D unknown Het
Gm49368 A G 7: 127,712,178 (GRCm39) T805A possibly damaging Het
Hgf T C 5: 16,809,921 (GRCm39) probably null Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Ift140 A G 17: 25,313,753 (GRCm39) M1395V probably benign Het
Il17rc T G 6: 113,457,780 (GRCm39) probably null Het
Kansl1l T A 1: 66,840,347 (GRCm39) T318S probably benign Het
Kcnc1 A T 7: 46,077,034 (GRCm39) N279Y probably damaging Het
Khdrbs2 T A 1: 32,511,828 (GRCm39) H264Q probably benign Het
Klf12 A G 14: 100,260,144 (GRCm39) V195A possibly damaging Het
Lhfpl2 A G 13: 94,328,539 (GRCm39) E200G probably damaging Het
Lmna T C 3: 88,393,548 (GRCm39) D300G probably damaging Het
Lrif1 A G 3: 106,641,674 (GRCm39) T17A possibly damaging Het
Mdm1 A G 10: 117,982,523 (GRCm39) I53V probably damaging Het
Mga T A 2: 119,733,518 (GRCm39) I122N probably damaging Het
Mos A G 4: 3,871,763 (GRCm39) S18P probably benign Het
Mterf3 C T 13: 67,062,852 (GRCm39) V295I possibly damaging Het
Muc16 G A 9: 18,571,511 (GRCm39) T336I unknown Het
Myo15a T C 11: 60,374,555 (GRCm39) S136P Het
Nav3 T A 10: 109,738,955 (GRCm39) I128F probably damaging Het
Or52z15 A G 7: 103,332,464 (GRCm39) I180V probably damaging Het
Or5b114-ps1 A T 19: 13,352,553 (GRCm39) T76S possibly damaging Het
Or5m13b T A 2: 85,753,819 (GRCm39) V69E probably damaging Het
Or5p70 A G 7: 107,995,259 (GRCm39) K311E probably benign Het
Or8u10 T C 2: 85,915,911 (GRCm39) D70G possibly damaging Het
Parvb T C 15: 84,155,523 (GRCm39) probably null Het
Patj A C 4: 98,576,484 (GRCm39) E574A probably benign Het
Ppp2r1a A G 17: 21,181,877 (GRCm39) N465S probably benign Het
Pramel34 T A 5: 93,786,697 (GRCm39) E24V probably damaging Het
Senp6 A G 9: 80,046,379 (GRCm39) K950E possibly damaging Het
Septin12 T C 16: 4,805,481 (GRCm39) H304R probably damaging Het
Septin3 T C 15: 82,167,914 (GRCm39) V110A probably damaging Het
Slc25a35 G T 11: 68,862,076 (GRCm39) V170L probably benign Het
Slco3a1 A T 7: 73,934,153 (GRCm39) L673Q possibly damaging Het
Smim35 A G 9: 45,154,271 (GRCm39) N44S possibly damaging Het
Tcp1 A G 17: 13,136,687 (GRCm39) M23V probably benign Het
Thg1l T C 11: 45,845,288 (GRCm39) probably benign Het
Tiam2 G A 17: 3,471,923 (GRCm39) E522K probably benign Het
Tie1 G A 4: 118,341,867 (GRCm39) T194I possibly damaging Het
Vmn2r49 T A 7: 9,718,674 (GRCm39) E463D probably benign Het
Wdr1 C A 5: 38,697,355 (GRCm39) probably null Het
Zbtb38 A T 9: 96,567,649 (GRCm39) M1145K probably damaging 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
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 PCR Primer
(F):5'- AAAATGGGGTCCCTCTGGATC -3'
(R):5'- ATCTTGGCAGGTGACCCAAG -3'

Sequencing Primer
(F):5'- GGTCCCTCTGGATCTCCAAGAC -3'
(R):5'- GGTGACCCAAGTACCTGAC -3'
Posted On 2022-04-18