Mutagenetix > Incidental Mutation

Incidental Mutation 'R1289:Nphs1'

150732

Institutional Source

Beutler Lab

Gene Symbol

Nphs1

Ensembl Gene

ENSMUSG00000006649

Gene Name

nephrosis 1, nephrin

Synonyms

nephrin

MMRRC Submission

039355-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30458315-30487223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30471178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 931 (L931P)

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: L931P

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

SMART Domains

Protein: ENSMUSP00000006825
Gene: ENSMUSG00000006649
AA Change: L931P

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

noncoding transcript
Transcript: ENSMUST00000123880

Predicted Effect

probably damaging
Transcript: ENSMUST00000126297
AA Change: L917P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649
AA Change: L917P

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.1%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,890	Y367*	probably null	Het
9930021J03Rik	T	C	19: 29,723,452	I745M	probably benign	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arap3	T	C	18: 37,981,973	R997G	possibly damaging	Het
Col22a1	T	G	15: 71,837,377	K655T	unknown	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Glcci1	G	A	6: 8,593,088	V298I	possibly damaging	Het
Gm14401	T	C	2: 177,086,996	Y292H	possibly damaging	Het
Gm9956	T	A	10: 56,745,580	S113T	probably damaging	Het
Gpr75	T	C	11: 30,892,706	I537T	probably benign	Het
Hars2	T	G	18: 36,783,412		probably null	Het
Helq	A	G	5: 100,796,464	V260A	probably damaging	Het
Ift172	A	C	5: 31,280,976	F46V	probably damaging	Het
Klk1b9	A	T	7: 43,978,424	I49L	probably benign	Het
Lrrk2	T	G	15: 91,812,360	N2450K	probably benign	Het
Mtor	T	C	4: 148,470,307	V867A	probably benign	Het
Nlgn1	G	T	3: 25,434,236	T645K	possibly damaging	Het
Phf19	T	C	2: 34,896,030	T476A	probably benign	Het
Rnf169	T	C	7: 99,925,736	I551V	probably benign	Het
Ryr3	T	A	2: 112,645,285	E4472V	probably damaging	Het
Tek	T	G	4: 94,804,830	F209V	probably damaging	Het
Vmn1r234	CTT	CTTT	17: 21,229,251		probably null	Het

Other mutations in Nphs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Nphs1	APN	7	30,482,551 (GRCm38)	missense	possibly damaging	0.77
IGL00927:Nphs1	APN	7	30,460,739 (GRCm38)	unclassified	probably benign
IGL00976:Nphs1	APN	7	30,460,685 (GRCm38)	missense	possibly damaging	0.78
IGL01397:Nphs1	APN	7	30,486,664 (GRCm38)	missense	probably benign	0.01
IGL01465:Nphs1	APN	7	30,486,714 (GRCm38)	makesense	probably null
IGL01889:Nphs1	APN	7	30,460,511 (GRCm38)	missense	probably damaging	1.00
IGL02383:Nphs1	APN	7	30,481,635 (GRCm38)	splice site	probably benign
R0020:Nphs1	UTSW	7	30,463,208 (GRCm38)	missense	probably benign	0.01
R0485:Nphs1	UTSW	7	30,467,515 (GRCm38)	missense	probably benign
R1024:Nphs1	UTSW	7	30,474,277 (GRCm38)	missense	probably damaging	1.00
R1115:Nphs1	UTSW	7	30,481,378 (GRCm38)	splice site	probably benign
R1144:Nphs1	UTSW	7	30,481,678 (GRCm38)	splice site	probably benign
R1317:Nphs1	UTSW	7	30,481,831 (GRCm38)	splice site	probably benign
R1617:Nphs1	UTSW	7	30,482,531 (GRCm38)	missense	probably benign
R1756:Nphs1	UTSW	7	30,461,534 (GRCm38)	missense	probably benign	0.00
R1937:Nphs1	UTSW	7	30,474,373 (GRCm38)	missense	probably damaging	1.00
R2144:Nphs1	UTSW	7	30,460,970 (GRCm38)	missense	probably benign	0.13
R2256:Nphs1	UTSW	7	30,467,992 (GRCm38)	missense	possibly damaging	0.94
R2257:Nphs1	UTSW	7	30,467,992 (GRCm38)	missense	possibly damaging	0.94
R2277:Nphs1	UTSW	7	30,467,564 (GRCm38)	nonsense	probably null
R3104:Nphs1	UTSW	7	30,467,540 (GRCm38)	nonsense	probably null
R3106:Nphs1	UTSW	7	30,467,540 (GRCm38)	nonsense	probably null
R3151:Nphs1	UTSW	7	30,460,240 (GRCm38)	missense	probably benign
R3765:Nphs1	UTSW	7	30,471,210 (GRCm38)	missense	probably damaging	0.98
R4078:Nphs1	UTSW	7	30,467,520 (GRCm38)	nonsense	probably null
R4397:Nphs1	UTSW	7	30,481,965 (GRCm38)	splice site	probably null
R4635:Nphs1	UTSW	7	30,468,007 (GRCm38)	missense	probably benign	0.39
R4650:Nphs1	UTSW	7	30,482,470 (GRCm38)	missense	probably benign	0.21
R4811:Nphs1	UTSW	7	30,460,429 (GRCm38)	missense	probably damaging	1.00
R4850:Nphs1	UTSW	7	30,463,232 (GRCm38)	missense	possibly damaging	0.78
R5272:Nphs1	UTSW	7	30,481,642 (GRCm38)	missense	possibly damaging	0.86
R5327:Nphs1	UTSW	7	30,463,825 (GRCm38)	missense	probably benign	0.00
R5681:Nphs1	UTSW	7	30,486,625 (GRCm38)	missense	probably benign	0.00
R5865:Nphs1	UTSW	7	30,474,385 (GRCm38)	missense	probably damaging	1.00
R5975:Nphs1	UTSW	7	30,466,115 (GRCm38)	missense	possibly damaging	0.82
R6186:Nphs1	UTSW	7	30,465,634 (GRCm38)	missense	probably damaging	0.98
R6198:Nphs1	UTSW	7	30,467,915 (GRCm38)	missense	probably damaging	0.97
R6353:Nphs1	UTSW	7	30,474,544 (GRCm38)	missense	probably damaging	0.99
R7405:Nphs1	UTSW	7	30,462,828 (GRCm38)	missense	possibly damaging	0.46
R7647:Nphs1	UTSW	7	30,481,965 (GRCm38)	splice site	probably null
R7767:Nphs1	UTSW	7	30,463,308 (GRCm38)	missense	probably damaging	1.00
R8132:Nphs1	UTSW	7	30,482,053 (GRCm38)	missense	probably benign	0.02
R8485:Nphs1	UTSW	7	30,466,173 (GRCm38)	missense	probably damaging	0.98
R8678:Nphs1	UTSW	7	30,463,859 (GRCm38)	missense	probably damaging	1.00
R8890:Nphs1	UTSW	7	30,462,655 (GRCm38)	missense	probably damaging	1.00
R8946:Nphs1	UTSW	7	30,463,200 (GRCm38)	missense	probably damaging	1.00
R9133:Nphs1	UTSW	7	30,460,667 (GRCm38)	nonsense	probably null
R9159:Nphs1	UTSW	7	30,465,601 (GRCm38)	missense	possibly damaging	0.93
R9347:Nphs1	UTSW	7	30,471,169 (GRCm38)	missense	probably damaging	1.00
R9547:Nphs1	UTSW	7	30,481,450 (GRCm38)	missense	probably benign	0.00
R9548:Nphs1	UTSW	7	30,481,450 (GRCm38)	missense	probably benign	0.00
R9607:Nphs1	UTSW	7	30,463,587 (GRCm38)	missense	probably damaging	1.00
R9626:Nphs1	UTSW	7	30,467,566 (GRCm38)	missense	probably benign	0.16
R9720:Nphs1	UTSW	7	30,466,074 (GRCm38)	missense	possibly damaging	0.83
R9733:Nphs1	UTSW	7	30,467,530 (GRCm38)	missense	probably damaging	1.00
X0028:Nphs1	UTSW	7	30,467,504 (GRCm38)	missense	probably null	0.01
Z1177:Nphs1	UTSW	7	30,470,903 (GRCm38)	missense	probably damaging	1.00
Z1186:Nphs1	UTSW	7	30,460,350 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTTTACTCAGTTCTCACTCCGGC -3'
(R):5'- ACACTTCCTGGCTTTGGGCAAC -3'

Sequencing Primer
(F):5'- CGGCCCACTTATCCAGC -3'
(R):5'- GGTGACCCAAGTACCTGAC -3'

Posted On

2014-01-29