Mutagenetix > Incidental Mutation

Incidental Mutation 'R2033:Nphs2'

221440

Institutional Source

Beutler Lab

Gene Symbol

Nphs2

Ensembl Gene

ENSMUSG00000026602

Gene Name

nephrosis 2, podocin

Synonyms

podocin

MMRRC Submission

040040-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R2033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156138297-156155605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156151308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 249 (V249A)

Ref Sequence

ENSEMBL: ENSMUSP00000027896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027896] [ENSMUST00000177824] [ENSMUST00000178036] [ENSMUST00000193020]

AlphaFold

Q91X05

Predicted Effect

probably damaging
Transcript: ENSMUST00000027896
AA Change: V249A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027896
Gene: ENSMUSG00000026602
AA Change: V249A

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
low complexity region	56	73	N/A	INTRINSIC
PHB	125	284	7.31e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177824

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	131	314	2.4e-12	PFAM
low complexity region	405	414	N/A	INTRINSIC
low complexity region	452	464	N/A	INTRINSIC
low complexity region	666	677	N/A	INTRINSIC
coiled coil region	787	837	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178036

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	196	380	3.3e-14	PFAM
low complexity region	470	479	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
coiled coil region	889	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193020

SMART Domains

Protein: ENSMUSP00000141328
Gene: ENSMUSG00000026602

Domain	Start	End	E-Value	Type
PHB	50	201	7.6e-19	SMART

Meta Mutation Damage Score

0.1694

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (53/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display kidney glomerular defects leading to blood and urine chemistry abnormalities. Death usually occurs before 5 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,953 (GRCm39)	T172A	probably benign	Het
Atp6v1c1	T	C	15: 38,674,210 (GRCm39)		probably null	Het
Bpifc	G	A	10: 85,836,496 (GRCm39)	T3I	possibly damaging	Het
Car12	A	G	9: 66,624,840 (GRCm39)		probably null	Het
Ccrl2	A	G	9: 110,884,938 (GRCm39)	F187L	possibly damaging	Het
Cep250	G	A	2: 155,812,812 (GRCm39)	R544H	probably damaging	Het
Col4a3	T	G	1: 82,695,732 (GRCm39)		probably benign	Het
Cyb5r2	T	C	7: 107,356,114 (GRCm39)		probably null	Het
Elfn2	A	G	15: 78,556,096 (GRCm39)	V817A	probably damaging	Het
Eln	C	T	5: 134,738,960 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,757,645 (GRCm39)	E1896G	possibly damaging	Het
G530012D18Rik	CACAGA	CA	1: 85,504,875 (GRCm39)		probably null	Het
Galnt11	C	T	5: 25,452,536 (GRCm39)	T16I	probably damaging	Het
Gars1	C	T	6: 55,054,708 (GRCm39)	H672Y	probably benign	Het
Gpr155	T	A	2: 73,178,526 (GRCm39)	H726L	probably benign	Het
Inpp1	T	A	1: 52,829,332 (GRCm39)	N229I	possibly damaging	Het
Isg20	A	C	7: 78,566,281 (GRCm39)	I77L	probably damaging	Het
Kit	G	C	5: 75,797,977 (GRCm39)	D422H	possibly damaging	Het
Lonp2	A	G	8: 87,435,570 (GRCm39)	E602G	possibly damaging	Het
Mink1	T	C	11: 70,503,334 (GRCm39)	V1143A	probably damaging	Het
Myh6	A	C	14: 55,201,102 (GRCm39)	L120R	probably benign	Het
Myo18a	T	A	11: 77,733,925 (GRCm39)		probably null	Het
Npsr1	A	G	9: 24,224,648 (GRCm39)	K342E	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nudt18	G	T	14: 70,817,056 (GRCm39)	G162V	possibly damaging	Het
Odam	A	G	5: 88,040,278 (GRCm39)	D248G	probably benign	Het
Or1e30	T	C	11: 73,678,264 (GRCm39)	S167P	probably benign	Het
Or4c119	A	G	2: 88,987,498 (GRCm39)	V7A	probably damaging	Het
Or51d1	A	G	7: 102,348,369 (GRCm39)	E308G	probably benign	Het
Or51h5	T	C	7: 102,577,615 (GRCm39)	V260A	probably benign	Het
Or8b3	G	T	9: 38,314,669 (GRCm39)	M166I	probably damaging	Het
Pde4b	G	T	4: 102,462,492 (GRCm39)	D723Y	probably benign	Het
Pdzrn3	T	C	6: 101,127,915 (GRCm39)	E917G	probably damaging	Het
Ppip5k1	C	T	2: 121,168,108 (GRCm39)	R715H	probably damaging	Het
Prkdc	T	A	16: 15,505,216 (GRCm39)		probably benign	Het
Ptp4a3	A	G	15: 73,625,618 (GRCm39)	Y21C	probably damaging	Het
Ptprk	C	A	10: 28,468,763 (GRCm39)		probably benign	Het
Rfesd	C	A	13: 76,150,991 (GRCm39)		probably null	Het
Rtel1	A	T	2: 180,993,656 (GRCm39)	K592*	probably null	Het
Siah1a	T	A	8: 87,451,898 (GRCm39)	K195N	probably damaging	Het
Slc5a5	G	T	8: 71,341,231 (GRCm39)	D369E	probably damaging	Het
Slc6a6	A	T	6: 91,701,891 (GRCm39)	I100F	probably benign	Het
Smtn	T	C	11: 3,467,781 (GRCm39)	I913V	probably benign	Het
Stk17b	A	G	1: 53,800,235 (GRCm39)	S248P	probably damaging	Het
Sun1	C	T	5: 139,211,193 (GRCm39)	H149Y	probably damaging	Het
Taar5	T	C	10: 23,846,992 (GRCm39)	I130T	possibly damaging	Het
Tmem132b	G	T	5: 125,826,353 (GRCm39)	V448F	probably damaging	Het
Tmem94	C	A	11: 115,685,154 (GRCm39)	N888K	possibly damaging	Het
Trpc1	T	C	9: 95,588,896 (GRCm39)	N742S	probably damaging	Het
Ttbk2	T	C	2: 120,637,330 (GRCm39)	T112A	probably damaging	Het
Tubb2a	A	T	13: 34,259,439 (GRCm39)	L117Q	probably damaging	Het
Vmn1r60	T	A	7: 5,547,819 (GRCm39)	M94L	probably benign	Het
Vmn2r83	A	G	10: 79,327,653 (GRCm39)	T754A	probably benign	Het

Other mutations in Nphs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Nphs2	APN	1	156,138,605 (GRCm39)	missense	probably benign	0.39
IGL03206:Nphs2	APN	1	156,153,701 (GRCm39)	missense	probably damaging	0.99
R0654:Nphs2	UTSW	1	156,146,317 (GRCm39)	missense	probably damaging	1.00
R1265:Nphs2	UTSW	1	156,146,317 (GRCm39)	missense	probably damaging	1.00
R1681:Nphs2	UTSW	1	156,148,468 (GRCm39)	missense	probably damaging	1.00
R3767:Nphs2	UTSW	1	156,140,608 (GRCm39)	missense	probably damaging	0.96
R4610:Nphs2	UTSW	1	156,153,701 (GRCm39)	missense	probably damaging	0.99
R4930:Nphs2	UTSW	1	156,148,499 (GRCm39)	missense	probably damaging	1.00
R5694:Nphs2	UTSW	1	156,153,607 (GRCm39)	missense	probably benign	0.01
R6131:Nphs2	UTSW	1	156,153,521 (GRCm39)	missense	probably damaging	1.00
R6147:Nphs2	UTSW	1	156,146,296 (GRCm39)	nonsense	probably null
R6454:Nphs2	UTSW	1	156,146,337 (GRCm39)	missense	probably damaging	1.00
R6716:Nphs2	UTSW	1	156,148,637 (GRCm39)	missense	probably benign	0.02
R8037:Nphs2	UTSW	1	156,138,400 (GRCm39)	missense	possibly damaging	0.53
R9029:Nphs2	UTSW	1	156,140,592 (GRCm39)	missense	probably benign	0.00
R9192:Nphs2	UTSW	1	156,138,386 (GRCm39)	missense	probably benign	0.00
R9249:Nphs2	UTSW	1	156,144,416 (GRCm39)	missense	probably damaging	1.00
R9274:Nphs2	UTSW	1	156,144,416 (GRCm39)	missense	probably damaging	1.00
RF048:Nphs2	UTSW	1	156,138,541 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGTGCAAGTTCAGCGTC -3'
(R):5'- GAAACCATGGGATAGTTTGCTTAAG -3'

Sequencing Primer
(F):5'- AAGTTCAGCGTCTCTGGC -3'
(R):5'- CCATGGGATAGTTTGCTTAAGTGTTG -3'

Posted On

2014-08-25