Mutagenetix > Incidental Mutation

Incidental Mutation 'R9029:Nphs2'

686916

Institutional Source

Beutler Lab

Gene Symbol

Nphs2

Ensembl Gene

ENSMUSG00000026602

Gene Name

nephrosis 2, podocin

Synonyms

podocin

MMRRC Submission

068858-MU

Accession Numbers

Essential gene?

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

Stock #

R9029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156138297-156155605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156140592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 110 (A110T)

Ref Sequence

ENSEMBL: ENSMUSP00000027896 (fasta)

Gene Model

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

AlphaFold

Q91X05

Predicted Effect

probably benign
Transcript: ENSMUST00000027896
AA Change: A110T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027896
Gene: ENSMUSG00000026602
AA Change: A110T

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: ENSMUST00000193020
AA Change: A35T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141328
Gene: ENSMUSG00000026602
AA Change: A35T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,591,460 (GRCm39)	K582M	probably benign	Het
Catsper3	T	G	13: 55,954,147 (GRCm39)	V305G	probably damaging	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cpne3	A	G	4: 19,535,292 (GRCm39)	Y247H	possibly damaging	Het
Cramp1	C	G	17: 25,232,884 (GRCm39)	A39P	probably damaging	Het
Cyp26b1	A	T	6: 84,554,035 (GRCm39)	V194E	probably benign	Het
Dchs1	A	G	7: 105,402,919 (GRCm39)	S3208P	probably benign	Het
Dhrs3	A	G	4: 144,653,755 (GRCm39)	Y292C	probably damaging	Het
Eif3l	T	C	15: 78,968,412 (GRCm39)	V227A	probably damaging	Het
Eif4enif1	T	C	11: 3,174,716 (GRCm39)	V290A	probably damaging	Het
Epb41l4a	A	C	18: 34,012,042 (GRCm39)	Y159*	probably null	Het
Gm5460	T	A	14: 33,739,326 (GRCm39)	S103T		Het
Gsto1	A	T	19: 47,852,837 (GRCm39)	Y224F	probably benign	Het
Hpd	G	A	5: 123,313,973 (GRCm39)	T271M	probably damaging	Het
Ift74	T	C	4: 94,506,271 (GRCm39)	I18T	probably benign	Het
Kif12	A	G	4: 63,087,704 (GRCm39)	C260R	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Luc7l3	A	G	11: 94,188,676 (GRCm39)	V201A	unknown	Het
Mcrip2	T	C	17: 26,082,989 (GRCm39)	E146G	probably damaging	Het
Mctp1	T	A	13: 76,836,741 (GRCm39)	Y323N	probably benign	Het
Micu2	T	A	14: 58,156,363 (GRCm39)	I370F	probably damaging	Het
Mug2	T	A	6: 122,061,328 (GRCm39)	V1416E	probably damaging	Het
Mup3	T	C	4: 62,003,540 (GRCm39)	N110D	probably damaging	Het
Nav3	C	T	10: 109,699,613 (GRCm39)	D294N	possibly damaging	Het
Or1a1	T	C	11: 74,086,563 (GRCm39)	I78T	possibly damaging	Het
Or5t7	A	G	2: 86,506,831 (GRCm39)	M282T	probably damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
Otof	C	T	5: 30,527,419 (GRCm39)		probably null	Het
Pgrmc2	G	T	3: 41,037,105 (GRCm39)	R109S	probably benign	Het
Plb1	G	A	5: 32,439,079 (GRCm39)	V214I	probably damaging	Het
Ppp2r5d	C	T	17: 46,998,906 (GRCm39)	S52N	probably benign	Het
Rrp12	C	A	19: 41,859,718 (GRCm39)	E1082*	probably null	Het
Skint3	A	G	4: 112,111,151 (GRCm39)	E92G	probably damaging	Het
Slc12a1	C	G	2: 124,996,004 (GRCm39)	N52K	probably benign	Het
Smu1	A	G	4: 40,738,361 (GRCm39)	Y458H	probably damaging	Het
Spsb3	C	T	17: 25,110,506 (GRCm39)	P317S	unknown	Het
Ssc5d	A	T	7: 4,930,919 (GRCm39)	Q167L	probably damaging	Het
Ssh2	T	C	11: 77,328,454 (GRCm39)	V340A	probably damaging	Het
Stag3	G	A	5: 138,296,296 (GRCm39)	R453H	probably damaging	Het
Svil	T	A	18: 5,056,239 (GRCm39)	F371I	probably benign	Het
Tas2r140	A	C	6: 133,032,181 (GRCm39)	S192R	possibly damaging	Het
Tdrp	T	C	8: 14,003,840 (GRCm39)	I166V	possibly damaging	Het
Tgm3	C	A	2: 129,871,680 (GRCm39)	Q269K	probably benign	Het
Thsd7b	G	A	1: 130,087,426 (GRCm39)	C1181Y	probably damaging	Het
Tinag	A	T	9: 76,934,296 (GRCm39)		probably benign	Het
Tnrc6b	T	C	15: 80,763,179 (GRCm39)	V227A	possibly damaging	Het
Tox3	A	C	8: 90,996,864 (GRCm39)	L133R	possibly damaging	Het
Tshz1	A	T	18: 84,031,639 (GRCm39)	I923N	probably damaging	Het
Vps13c	T	A	9: 67,855,429 (GRCm39)	V2498D	probably damaging	Het
Vps41	T	A	13: 18,994,723 (GRCm39)		probably null	Het
Xylt2	T	C	11: 94,555,462 (GRCm39)	D850G	probably damaging	Het
Zfp229	T	A	17: 21,964,321 (GRCm39)	S184T	possibly damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp595	C	A	13: 67,468,989 (GRCm39)	M12I	probably benign	Het
Zfp750	T	C	11: 121,403,149 (GRCm39)	Q533R	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
R2033:Nphs2	UTSW	1	156,151,308 (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
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'- ATTGGCCCACACAGTCCTTC -3'
(R):5'- AGGAAGAAGCGCTCTCTTG -3'

Sequencing Primer
(F):5'- CAGACCTGGGAACTCTGATCATTTG -3'
(R):5'- AGAAGCGCTCTCTTGGAAGTC -3'

Posted On

2021-11-19