Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02217:Nrip2'

284945

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrip2

Ensembl Gene

ENSMUSG00000001520

Gene Name

nuclear receptor interacting protein 2

Synonyms

NIX1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

IGL02217

Quality Score

Status

Chromosome

Chromosomal Location

128374780-128386747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128383502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 70 (N70S)

Ref Sequence

ENSEMBL: ENSMUSP00000144750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001559] [ENSMUST00000001561] [ENSMUST00000120405] [ENSMUST00000123867] [ENSMUST00000142615] [ENSMUST00000204223] [ENSMUST00000204836] [ENSMUST00000203374]

AlphaFold

Q9JHR9

Predicted Effect

probably benign
Transcript: ENSMUST00000001559

SMART Domains

Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	382	1e-158	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000001561
AA Change: N130S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000001561
Gene: ENSMUSG00000001520
AA Change: N130S

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	88	203	1.2e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120405
AA Change: N130S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113317
Gene: ENSMUSG00000001520
AA Change: N130S

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	88	202	1.1e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123867
AA Change: N147S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122558
Gene: ENSMUSG00000001520
AA Change: N147S

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	105	218	4.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136631

Predicted Effect

probably benign
Transcript: ENSMUST00000142615

SMART Domains

Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	358	1e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147155

SMART Domains

Protein: ENSMUSP00000122305
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
low complexity region	96	111	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204223
AA Change: N159S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011
AA Change: N159S

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	190	201	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204836
AA Change: N70S

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

SMART Domains

Protein: ENSMUSP00000144750
Gene: ENSMUSG00000001520
AA Change: N70S

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	28	141	8.9e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203984

Predicted Effect

probably benign
Transcript: ENSMUST00000203374

SMART Domains

Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	21	350	1.3e-147	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204362

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,603,955 (GRCm39)		probably benign	Het
Actn1	G	A	12: 80,220,868 (GRCm39)	Q647*	probably null	Het
Adamts6	T	A	13: 104,598,873 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabin1	G	A	10: 75,535,881 (GRCm39)	T1389I	possibly damaging	Het
Cenpc1	A	G	5: 86,177,059 (GRCm39)		probably benign	Het
Clca4a	T	A	3: 144,667,757 (GRCm39)	T405S	possibly damaging	Het
Cntln	G	A	4: 85,018,495 (GRCm39)	V1168M	probably damaging	Het
Col18a1	A	G	10: 76,889,132 (GRCm39)	S1494P	probably damaging	Het
Cps1	A	T	1: 67,213,541 (GRCm39)	T758S	probably benign	Het
Cul3	A	T	1: 80,261,484 (GRCm39)	M247K	probably damaging	Het
Cyp3a57	A	G	5: 145,305,953 (GRCm39)		probably null	Het
Dennd4c	T	A	4: 86,732,036 (GRCm39)	C917S	probably benign	Het
Dhrs11	A	T	11: 84,713,221 (GRCm39)	Y166*	probably null	Het
Dtl	A	G	1: 191,300,426 (GRCm39)	V146A	probably damaging	Het
Exosc9	A	G	3: 36,606,893 (GRCm39)	E20G	probably damaging	Het
Fer	A	G	17: 64,445,960 (GRCm39)	K437R	probably benign	Het
Fkbp6	A	T	5: 135,366,484 (GRCm39)	V284E	probably benign	Het
Foxq1	A	T	13: 31,743,152 (GRCm39)	S85C	probably damaging	Het
Galnt12	T	A	4: 47,113,832 (GRCm39)	S83R	probably damaging	Het
Gpr156	A	G	16: 37,825,673 (GRCm39)	D630G	probably benign	Het
Hace1	A	T	10: 45,466,471 (GRCm39)		probably null	Het
Hemgn	G	T	4: 46,396,420 (GRCm39)	T272K	probably damaging	Het
Ifi213	T	G	1: 173,422,598 (GRCm39)	E89A	possibly damaging	Het
Jarid2	A	G	13: 45,066,677 (GRCm39)	E954G	probably damaging	Het
Kcnu1	A	G	8: 26,348,212 (GRCm39)	D126G	probably damaging	Het
Lbh	A	T	17: 73,228,247 (GRCm39)	I31F	possibly damaging	Het
Lrrc37	T	C	11: 103,503,697 (GRCm39)		probably benign	Het
Mdfic2	T	A	6: 98,225,033 (GRCm39)	E83D	possibly damaging	Het
Muc6	T	C	7: 141,235,889 (GRCm39)	E490G	probably damaging	Het
Ncoa3	T	C	2: 165,897,266 (GRCm39)	S686P	probably damaging	Het
Nme4	A	G	17: 26,312,834 (GRCm39)	M108T	probably damaging	Het
Nod1	A	C	6: 54,920,404 (GRCm39)	V638G	possibly damaging	Het
Or2bd2	T	A	7: 6,443,244 (GRCm39)	I115N	probably damaging	Het
Or5as1	A	G	2: 86,980,231 (GRCm39)	M258T	probably benign	Het
Pitrm1	G	A	13: 6,617,377 (GRCm39)		probably benign	Het
Proser1	A	G	3: 53,378,912 (GRCm39)	K115E	probably damaging	Het
Ptov1	C	T	7: 44,516,900 (GRCm39)	G70R	probably damaging	Het
Qtrt1	T	G	9: 21,328,685 (GRCm39)		probably null	Het
Rbbp8nl	A	G	2: 179,919,981 (GRCm39)		probably benign	Het
Rplp1rt	A	T	19: 12,824,227 (GRCm39)		noncoding transcript	Het
Rtn3	G	A	19: 7,412,449 (GRCm39)	T794I	probably damaging	Het
Setd4	A	G	16: 93,390,183 (GRCm39)	L82P	probably damaging	Het
Shank2	C	T	7: 143,838,784 (GRCm39)	L27F	possibly damaging	Het
Srpk2	A	C	5: 23,750,568 (GRCm39)	V45G	probably damaging	Het
Utrn	A	G	10: 12,627,303 (GRCm39)	F57S	probably damaging	Het
Vcan	T	G	13: 89,851,196 (GRCm39)	T1255P	probably damaging	Het
Vmn2r16	A	C	5: 109,487,676 (GRCm39)	H183P	probably damaging	Het
Wdr48	T	C	9: 119,738,601 (GRCm39)	I286T	probably benign	Het

Other mutations in Nrip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03179:Nrip2	APN	6	128,381,938 (GRCm39)	missense	possibly damaging	0.51
R1301:Nrip2	UTSW	6	128,384,352 (GRCm39)	missense	probably benign	0.03
R1735:Nrip2	UTSW	6	128,382,037 (GRCm39)	missense	probably damaging	1.00
R1769:Nrip2	UTSW	6	128,385,231 (GRCm39)	missense	probably benign
R4926:Nrip2	UTSW	6	128,385,337 (GRCm39)	missense	probably benign	0.00
R5935:Nrip2	UTSW	6	128,385,361 (GRCm39)	missense	possibly damaging	0.96
R5990:Nrip2	UTSW	6	128,376,979 (GRCm39)	unclassified	probably benign
R6586:Nrip2	UTSW	6	128,381,911 (GRCm39)	nonsense	probably null
R6658:Nrip2	UTSW	6	128,385,199 (GRCm39)	missense	possibly damaging	0.96
R7392:Nrip2	UTSW	6	128,381,913 (GRCm39)	missense	probably benign	0.00
R7573:Nrip2	UTSW	6	128,377,232 (GRCm39)	missense	probably benign	0.00
R8030:Nrip2	UTSW	6	128,383,484 (GRCm39)	missense	possibly damaging	0.93
R8352:Nrip2	UTSW	6	128,384,957 (GRCm39)	missense	probably damaging	1.00
R8452:Nrip2	UTSW	6	128,384,957 (GRCm39)	missense	probably damaging	1.00
R8963:Nrip2	UTSW	6	128,385,288 (GRCm39)	missense	possibly damaging	0.53
R9477:Nrip2	UTSW	6	128,377,145 (GRCm39)	missense	probably benign	0.26

Posted On

2015-04-16