Mutagenetix > Incidental Mutation

Incidental Mutation 'R9733:Nphs1'

731547

Institutional Source

Beutler Lab

Gene Symbol

Nphs1

Ensembl Gene

ENSMUSG00000006649

Gene Name

nephrosis 1, nephrin

Synonyms

nephrin

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9733 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30458315-30487223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30467530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 735 (C735R)

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: C735R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649
AA Change: C735R

Domain	Start	End	E-Value	Type
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: C721R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649
AA Change: C721R

Domain	Start	End	E-Value	Type
IG	38	132	1.38e-6	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,334,795		probably benign	Het
4930595D18Rik	T	A	12: 111,161,820		probably benign	Het
4932438A13Rik	T	A	3: 37,048,583	M1437K		Het
Alpi	C	T	1: 87,100,794	A125T	probably benign	Het
Alppl2	T	A	1: 87,087,235	H468L	probably damaging	Het
Arhgef12	A	T	9: 42,989,998	L836*	probably null	Het
Arv1	T	C	8: 124,731,919	Y261H	probably damaging	Het
Atf6	C	T	1: 170,834,833	S286N	probably benign	Het
Atl3	G	A	19: 7,532,340	G478R	probably damaging	Het
Avil	C	T	10: 127,007,842	R184C	probably damaging	Het
B020004J07Rik	A	G	4: 101,835,768	V345A	possibly damaging	Het
Bcl6b	A	G	11: 70,228,497	I131T	probably damaging	Het
Catsper3	T	C	13: 55,798,939	S150P	probably damaging	Het
Cd7	A	G	11: 121,037,811	S132P	probably benign	Het
Cfh	T	C	1: 140,088,795	D1142G	probably damaging	Het
Clca4b	T	G	3: 144,915,511	K601Q	probably benign	Het
Cp	A	G	3: 19,978,962	H651R	probably damaging	Het
Cyp2s1	T	A	7: 25,808,104	T307S	probably damaging	Het
Dcaf11	A	G	14: 55,565,713	D328G	probably damaging	Het
Eapp	A	T	12: 54,692,956	S25R	probably damaging	Het
Ebag9	T	A	15: 44,627,637		probably null	Het
Exog	G	A	9: 119,462,520	E288K	possibly damaging	Het
Fads2	A	T	19: 10,070,576	Y265N	probably damaging	Het
Fam234b	T	A	6: 135,217,010	S220R	possibly damaging	Het
Fcgbp	T	A	7: 28,103,587	C1539S	probably damaging	Het
Fuk	T	C	8: 110,888,931	T589A	probably benign	Het
Fv1	C	T	4: 147,870,164	R396W	probably damaging	Het
Fv1	T	C	4: 147,870,197	F407L	probably benign	Het
Glp2r	T	C	11: 67,757,541	T112A	probably benign	Het
Gm5346	T	C	8: 43,626,149	N346S	possibly damaging	Het
Hydin	T	C	8: 110,535,379	I2704T	probably benign	Het
Ighm	T	A	12: 113,422,477	E84D	probably benign	Het
Ikzf5	A	G	7: 131,392,283	V205A	probably benign	Het
Kcnt1	G	T	2: 25,907,339	V844L	probably benign	Het
Kif2a	A	C	13: 106,969,796	S528R	probably damaging	Het
Klhl29	G	A	12: 5,140,641	T118M	probably damaging	Het
Krt4	C	A	15: 101,919,129	G492C	unknown	Het
Lama1	T	A	17: 67,809,945	I2441N		Het
Lin7a	T	C	10: 107,412,044	V192A	possibly damaging	Het
March8	T	A	6: 116,402,029	V308D	probably damaging	Het
Mgat5b	T	C	11: 116,947,248	S238P	possibly damaging	Het
Mrps25	A	G	6: 92,178,734	S73P	probably damaging	Het
Muc6	G	T	7: 141,636,397	P2788T	unknown	Het
Ncf1	T	C	5: 134,222,045	T347A	probably benign	Het
Ndufaf4	T	C	4: 24,903,177	M122T	probably benign	Het
Nfil3	C	T	13: 52,967,555	A438T	probably damaging	Het
Noc2l	T	G	4: 156,243,565	I504S	probably damaging	Het
Olfr1166	C	A	2: 88,124,656	V110L	probably damaging	Het
Olfr1380	T	C	11: 49,564,134	L71P	probably damaging	Het
Olfr6	A	C	7: 106,956,639	L99R	possibly damaging	Het
Olfr981	A	T	9: 40,022,875	S161C	probably benign	Het
Pcdhac1	A	G	18: 37,092,453	H773R	probably benign	Het
Pcnt	A	G	10: 76,401,480	V1324A	probably benign	Het
Pcsk4	T	C	10: 80,322,200	Y568C	probably damaging	Het
Pdlim1	A	T	19: 40,230,596	M197K	probably damaging	Het
Plekho1	C	T	3: 95,995,779	G7S	probably benign	Het
Prl7d1	A	C	13: 27,714,356	S57A	probably benign	Het
Prpf3	A	G	3: 95,834,200	V548A	possibly damaging	Het
Prss56	C	T	1: 87,183,497	P2L	possibly damaging	Het
Ric1	A	G	19: 29,602,630	D1277G	possibly damaging	Het
Rnf19b	T	A	4: 129,084,019	D676E	probably damaging	Het
Rph3a	T	A	5: 120,962,458	T126S	probably benign	Het
Sh3gl3	T	C	7: 82,268,354		probably null	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc35f2	T	C	9: 53,801,101	V126A	probably benign	Het
Snrnp200	A	T	2: 127,226,320	Q860L	probably damaging	Het
Srbd1	T	C	17: 86,115,283	N435S	probably damaging	Het
Tab2	A	G	10: 7,919,450	S349P	possibly damaging	Het
Tie1	A	T	4: 118,472,986	W1040R	probably null	Het
Tnni3k	A	T	3: 154,856,607	Y678N	probably damaging	Het
Trav12-3	T	C	14: 53,622,017	V40A	possibly damaging	Het
Ttn	G	A	2: 76,746,035	S24838L	probably damaging	Het
Ttn	A	G	2: 76,895,316	W6158R	unknown	Het
Vegfa	T	C	17: 46,024,475	S298G	probably damaging	Het
Zer1	T	C	2: 30,107,631	K421R	probably benign	Het
Zfp959	C	A	17: 55,897,866	T301N	probably benign	Het

Other mutations in Nphs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Nphs1	APN	7	30482551	missense	possibly damaging	0.77
IGL00927:Nphs1	APN	7	30460739	unclassified	probably benign
IGL00976:Nphs1	APN	7	30460685	missense	possibly damaging	0.78
IGL01397:Nphs1	APN	7	30486664	missense	probably benign	0.01
IGL01465:Nphs1	APN	7	30486714	makesense	probably null
IGL01889:Nphs1	APN	7	30460511	missense	probably damaging	1.00
IGL02383:Nphs1	APN	7	30481635	splice site	probably benign
R0020:Nphs1	UTSW	7	30463208	missense	probably benign	0.01
R0485:Nphs1	UTSW	7	30467515	missense	probably benign
R1024:Nphs1	UTSW	7	30474277	missense	probably damaging	1.00
R1115:Nphs1	UTSW	7	30481378	splice site	probably benign
R1144:Nphs1	UTSW	7	30481678	splice site	probably benign
R1289:Nphs1	UTSW	7	30471178	missense	probably damaging	1.00
R1317:Nphs1	UTSW	7	30481831	splice site	probably benign
R1617:Nphs1	UTSW	7	30482531	missense	probably benign
R1756:Nphs1	UTSW	7	30461534	missense	probably benign	0.00
R1937:Nphs1	UTSW	7	30474373	missense	probably damaging	1.00
R2144:Nphs1	UTSW	7	30460970	missense	probably benign	0.13
R2256:Nphs1	UTSW	7	30467992	missense	possibly damaging	0.94
R2257:Nphs1	UTSW	7	30467992	missense	possibly damaging	0.94
R2277:Nphs1	UTSW	7	30467564	nonsense	probably null
R3104:Nphs1	UTSW	7	30467540	nonsense	probably null
R3106:Nphs1	UTSW	7	30467540	nonsense	probably null
R3151:Nphs1	UTSW	7	30460240	missense	probably benign
R3765:Nphs1	UTSW	7	30471210	missense	probably damaging	0.98
R4078:Nphs1	UTSW	7	30467520	nonsense	probably null
R4397:Nphs1	UTSW	7	30481965	splice site	probably null
R4635:Nphs1	UTSW	7	30468007	missense	probably benign	0.39
R4650:Nphs1	UTSW	7	30482470	missense	probably benign	0.21
R4811:Nphs1	UTSW	7	30460429	missense	probably damaging	1.00
R4850:Nphs1	UTSW	7	30463232	missense	possibly damaging	0.78
R5272:Nphs1	UTSW	7	30481642	missense	possibly damaging	0.86
R5327:Nphs1	UTSW	7	30463825	missense	probably benign	0.00
R5681:Nphs1	UTSW	7	30486625	missense	probably benign	0.00
R5865:Nphs1	UTSW	7	30474385	missense	probably damaging	1.00
R5975:Nphs1	UTSW	7	30466115	missense	possibly damaging	0.82
R6186:Nphs1	UTSW	7	30465634	missense	probably damaging	0.98
R6198:Nphs1	UTSW	7	30467915	missense	probably damaging	0.97
R6353:Nphs1	UTSW	7	30474544	missense	probably damaging	0.99
R7405:Nphs1	UTSW	7	30462828	missense	possibly damaging	0.46
R7647:Nphs1	UTSW	7	30481965	splice site	probably null
R7767:Nphs1	UTSW	7	30463308	missense	probably damaging	1.00
R8132:Nphs1	UTSW	7	30482053	missense	probably benign	0.02
R8485:Nphs1	UTSW	7	30466173	missense	probably damaging	0.98
R8678:Nphs1	UTSW	7	30463859	missense	probably damaging	1.00
R8890:Nphs1	UTSW	7	30462655	missense	probably damaging	1.00
R8946:Nphs1	UTSW	7	30463200	missense	probably damaging	1.00
R9133:Nphs1	UTSW	7	30460667	nonsense	probably null
R9159:Nphs1	UTSW	7	30465601	missense	possibly damaging	0.93
R9347:Nphs1	UTSW	7	30471169	missense	probably damaging	1.00
R9547:Nphs1	UTSW	7	30481450	missense	probably benign	0.00
R9548:Nphs1	UTSW	7	30481450	missense	probably benign	0.00
R9607:Nphs1	UTSW	7	30463587	missense	probably damaging	1.00
R9626:Nphs1	UTSW	7	30467566	missense	probably benign	0.16
R9720:Nphs1	UTSW	7	30466074	missense	possibly damaging	0.83
X0028:Nphs1	UTSW	7	30467504	missense	probably null	0.01
Z1177:Nphs1	UTSW	7	30470903	missense	probably damaging	1.00
Z1186:Nphs1	UTSW	7	30460350	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCAACTGGACCTTCCGAG -3'
(R):5'- AGCCTGTCTTCATCGTTGTG -3'

Sequencing Primer
(F):5'- GCCTCAGCCCAGGTAGGATG -3'
(R):5'- CATCGTTGTGCCTCTGTGATTATTAG -3'

Posted On

2022-11-14