Mutagenetix > Incidental Mutation

Incidental Mutation 'R6454:Nphs2'

519449

Institutional Source

Beutler Lab

Gene Symbol

Nphs2

Ensembl Gene

ENSMUSG00000026602

Gene Name

nephrosis 2, podocin

Synonyms

podocin

MMRRC Submission

044590-MU

Accession Numbers

Essential gene?

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

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156138297-156155605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 156146337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 179 (H179Q)

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: H179Q

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

SMART Domains

Protein: ENSMUSP00000027896
Gene: ENSMUSG00000026602
AA Change: H179Q

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 damaging
Transcript: ENSMUST00000193020
AA Change: H104Q

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

SMART Domains

Protein: ENSMUSP00000141328
Gene: ENSMUSG00000026602
AA Change: H104Q

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	G	T	8: 44,079,845 (GRCm39)	N126K	probably damaging	Het
Arid2	C	T	15: 96,270,294 (GRCm39)	T1469I	probably benign	Het
Atp12a	A	G	14: 56,608,290 (GRCm39)	T93A	probably benign	Het
Atp8a2	A	T	14: 60,245,948 (GRCm39)		probably null	Het
Casz1	A	T	4: 149,035,952 (GRCm39)	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,883,403 (GRCm39)	S100P	probably damaging	Het
Creld2	T	A	15: 88,707,274 (GRCm39)	C197*	probably null	Het
Csmd1	A	T	8: 15,971,150 (GRCm39)	F3055Y	probably damaging	Het
Dnah11	T	A	12: 117,880,590 (GRCm39)	E3843D	probably benign	Het
Dnah14	T	C	1: 181,611,270 (GRCm39)	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,513,808 (GRCm39)	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,914,761 (GRCm39)	I305S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faf1	G	T	4: 109,699,531 (GRCm39)	A359S	probably benign	Het
Fam13b	A	G	18: 34,590,715 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,638,015 (GRCm39)	N363I	probably damaging	Het
Grm8	T	G	6: 27,363,775 (GRCm39)	H580P	possibly damaging	Het
Itih5	T	C	2: 10,245,479 (GRCm39)	F523L	probably benign	Het
Klhl1	A	T	14: 96,517,527 (GRCm39)	M383K	possibly damaging	Het
Lgi4	A	T	7: 30,759,557 (GRCm39)	T38S	probably benign	Het
Myh13	T	A	11: 67,241,191 (GRCm39)	M856K	probably benign	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,085,199 (GRCm39)	R127C	possibly damaging	Het
Notch2	T	C	3: 98,044,722 (GRCm39)	I1548T	possibly damaging	Het
Nup153	T	C	13: 46,863,136 (GRCm39)		probably null	Het
Nup50l	T	G	6: 96,142,609 (GRCm39)	H145P	possibly damaging	Het
Odf2l	C	A	3: 144,859,181 (GRCm39)	Q517K	possibly damaging	Het
Omd	A	T	13: 49,743,345 (GRCm39)	I132F	probably damaging	Het
Or10d1b	A	G	9: 39,613,130 (GRCm39)	*312Q	probably null	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or5b12	T	A	19: 12,897,395 (GRCm39)	N93Y	probably benign	Het
Or9g19	A	G	2: 85,600,717 (GRCm39)	K191E	probably benign	Het
Otog	A	G	7: 45,955,241 (GRCm39)	N544D	probably damaging	Het
Ovol3	A	G	7: 29,934,800 (GRCm39)	Y29H	probably damaging	Het
Papolb	T	C	5: 142,515,353 (GRCm39)	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,632,322 (GRCm39)	V706L	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plekhm1	G	A	11: 103,268,208 (GRCm39)	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,587,986 (GRCm39)	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827 (GRCm39)	F127L	probably damaging	Het
Rigi	T	A	4: 40,220,456 (GRCm39)	I476F	probably damaging	Het
Rnf5	A	C	17: 34,821,283 (GRCm39)	C47W	probably damaging	Het
Sbno1	A	T	5: 124,538,910 (GRCm39)	M517K	probably damaging	Het
Slc44a5	C	T	3: 153,948,796 (GRCm39)	T188M	probably benign	Het
Smco1	A	G	16: 32,092,041 (GRCm39)	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,579,431 (GRCm39)	I77F	probably damaging	Het
Spem2	A	G	11: 69,708,254 (GRCm39)	L237P	probably damaging	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Tent5b	A	G	4: 133,207,720 (GRCm39)	D37G	probably damaging	Het
Tiam2	A	T	17: 3,488,938 (GRCm39)	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866 (GRCm39)	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,525,801 (GRCm39)	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,022,811 (GRCm39)	*138R	probably null	Het
Tpst1	A	G	5: 130,130,892 (GRCm39)	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,261 (GRCm39)	V51D	possibly damaging	Het
Tshr	C	A	12: 91,505,323 (GRCm39)	Q754K	probably benign	Het
Ttc38	T	A	15: 85,723,023 (GRCm39)	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,470,580 (GRCm39)		probably benign	Het
Ugt2b37	T	G	5: 87,388,836 (GRCm39)	D459A	probably damaging	Het
Usp35	A	T	7: 96,960,851 (GRCm39)	Y858*	probably null	Het
Usp35	A	T	7: 96,960,767 (GRCm39)	N886K	probably damaging	Het
Wdr33	T	C	18: 31,963,028 (GRCm39)	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,986,310 (GRCm39)	T506I	possibly damaging	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
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'- CTCTGGGTAACACAGGCTAAGC -3'
(R):5'- GCTGACTGTGAGCATATTAAACTC -3'

Sequencing Primer
(F):5'- TAAGCCAGCAATGCAGCCTG -3'
(R):5'- AATATGTTTTCCCATTGAATAGGCCG -3'

Posted On

2018-05-24