Incidental Mutation 'R9133:Nphs1'
ID 693779
Institutional Source Beutler Lab
Gene Symbol Nphs1
Ensembl Gene ENSMUSG00000006649
Gene Name nephrosis 1, nephrin
Synonyms nephrin
MMRRC Submission 068930-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9133 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30157740-30186648 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 30160092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 124 (E124*)
Ref Sequence ENSEMBL: ENSMUSP00000006825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006825] [ENSMUST00000045817] [ENSMUST00000126297]
AlphaFold Q9QZS7
Predicted Effect probably null
Transcript: ENSMUST00000006825
AA Change: E124*
SMART Domains Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649
AA Change: E124*

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: ENSMUST00000045817
SMART Domains Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915

DomainStartEndE-ValueType
IG 27 117 9.18e-12 SMART
IG 128 219 5.13e-1 SMART
IG_like 230 306 8.06e0 SMART
IGc2 321 379 3.06e-8 SMART
IG_like 401 500 4.65e1 SMART
transmembrane domain 509 531 N/A INTRINSIC
low complexity region 547 565 N/A INTRINSIC
low complexity region 607 629 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000126297
AA Change: E110*
SMART Domains Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649
AA Change: E110*

DomainStartEndE-ValueType
IG 38 132 1.38e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169893
SMART Domains Protein: ENSMUSP00000131161
Gene: ENSMUSG00000036915

DomainStartEndE-ValueType
IG 27 117 9.18e-12 SMART
IG_like 118 189 5.91e-1 SMART
IG_like 211 287 8.06e0 SMART
IGc2 302 360 3.06e-8 SMART
IG_like 382 481 4.65e1 SMART
transmembrane domain 490 512 N/A INTRINSIC
low complexity region 528 546 N/A INTRINSIC
low complexity region 588 610 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 T A 17: 13,159,176 (GRCm39) R4S probably benign Het
Adamdec1 A T 14: 68,814,547 (GRCm39) C143* probably null Het
Adck5 A G 15: 76,460,612 (GRCm39) probably benign Het
Aebp2 A G 6: 140,579,441 (GRCm39) D226G probably damaging Het
Ascc3 A G 10: 50,630,175 (GRCm39) I1755V possibly damaging Het
Aspm C T 1: 139,419,266 (GRCm39) T2977M probably damaging Het
Cacna1a A G 8: 85,276,152 (GRCm39) S582G probably damaging Het
Card14 T C 11: 119,231,835 (GRCm39) F801S probably damaging Het
Casp16 T A 17: 23,771,003 (GRCm39) D134V probably damaging Het
Cmya5 A G 13: 93,234,108 (GRCm39) S327P possibly damaging Het
Cutc A T 19: 43,755,727 (GRCm39) D229V possibly damaging Het
Cyp21a1 C A 17: 35,023,419 (GRCm39) probably benign Het
Dnah10 A G 5: 124,859,423 (GRCm39) K2130R probably damaging Het
Dsc1 C T 18: 20,234,904 (GRCm39) S250N probably benign Het
Edc4 T C 8: 106,611,778 (GRCm39) probably null Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Ehmt1 A T 2: 24,729,635 (GRCm39) I642K possibly damaging Het
Gjd2 T C 2: 113,842,039 (GRCm39) Q146R probably benign Het
Gm26661 A G 14: 7,791,936 (GRCm38) H117R unknown Het
H2-Oa T A 17: 34,313,505 (GRCm39) D185E probably damaging Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Hyal6 A G 6: 24,734,585 (GRCm39) R173G possibly damaging Het
Ica1 A T 6: 8,659,921 (GRCm39) V125D probably benign Het
Ift172 T C 5: 31,442,867 (GRCm39) T140A probably benign Het
Ighv9-4 T A 12: 114,263,883 (GRCm39) I17F probably benign Het
Igkv4-92 G T 6: 68,732,248 (GRCm39) T42N probably damaging Het
Kctd16 C A 18: 40,392,069 (GRCm39) P219Q probably damaging Het
Kdm5b A T 1: 134,530,323 (GRCm39) I445F probably benign Het
Ksr2 A G 5: 117,841,319 (GRCm39) T598A probably benign Het
Lrrn1 C T 6: 107,544,568 (GRCm39) T122I probably damaging Het
Mars2 A G 1: 55,276,721 (GRCm39) D108G possibly damaging Het
Ms4a14 A G 19: 11,281,038 (GRCm39) W507R Het
Ncoa3 A G 2: 165,910,381 (GRCm39) T1266A possibly damaging Het
Neb T C 2: 52,083,256 (GRCm39) K5650E possibly damaging Het
Nlrp4f T A 13: 65,332,883 (GRCm39) K92* probably null Het
Nme4 G T 17: 26,314,389 (GRCm39) A13E probably benign Het
Nova1 G T 12: 46,865,524 (GRCm39) A4E unknown Het
Or10d4 T A 9: 39,580,974 (GRCm39) I207N possibly damaging Het
Or10d4b T A 9: 39,534,809 (GRCm39) L128* probably null Het
Or5d14 T C 2: 87,880,782 (GRCm39) Y62C probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Ranbp2 T C 10: 58,313,050 (GRCm39) S1257P probably damaging Het
Ranbp3 T C 17: 57,003,791 (GRCm39) probably null Het
Rasgrf1 A G 9: 89,793,600 (GRCm39) T126A probably benign Het
Rexo5 T G 7: 119,444,667 (GRCm39) L714R probably damaging Het
Rhobtb3 A G 13: 76,020,512 (GRCm39) Y597H probably damaging Het
Riox1 C G 12: 83,998,221 (GRCm39) Y252* probably null Het
Sh2d3c T C 2: 32,634,778 (GRCm39) Y186H possibly damaging Het
Slc16a7 T A 10: 125,066,536 (GRCm39) T368S probably benign Het
Slc25a26 G A 6: 94,511,143 (GRCm39) V107I Het
Slc4a5 A T 6: 83,203,217 (GRCm39) Y39F possibly damaging Het
Smarcad1 A G 6: 65,049,035 (GRCm39) K254E probably damaging Het
Sspo G T 6: 48,434,747 (GRCm39) V1080L possibly damaging Het
Thsd7b A T 1: 129,843,382 (GRCm39) T865S probably benign Het
Top1 C T 2: 160,545,591 (GRCm39) Q320* probably null Het
Trank1 T A 9: 111,220,770 (GRCm39) N2502K possibly damaging Het
Urad T C 5: 147,252,251 (GRCm39) H67R probably damaging Het
Vamp5 A C 6: 72,357,362 (GRCm39) probably null Het
Vmn1r62 A G 7: 5,679,062 (GRCm39) I248V probably benign Het
Wwc2 G T 8: 48,305,007 (GRCm39) Q873K unknown Het
Zcchc2 C A 1: 105,958,535 (GRCm39) S1002Y probably damaging Het
Zdhhc14 G A 17: 5,803,283 (GRCm39) R462H probably benign Het
Zfp788 A G 7: 41,299,484 (GRCm39) N707D Het
Zfp964 A G 8: 70,115,783 (GRCm39) T128A probably benign Het
Zkscan16 T C 4: 58,957,722 (GRCm39) L668S possibly 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
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 PCR Primer
(F):5'- CCCTAAGATTCCAGGCTTCC -3'
(R):5'- GGGGTAAGACACACTGTTGG -3'

Sequencing Primer
(F):5'- GATTCCAGGCTTCCCAAGGTACAG -3'
(R):5'- CACACTGTTGGGAGGTACATG -3'
Posted On 2022-01-20