Mutagenetix > Incidental Mutation

Incidental Mutation 'R4926:Nrip2'

379028

Institutional Source

Beutler Lab

Gene Symbol

Nrip2

Ensembl Gene

ENSMUSG00000001520

Gene Name

nuclear receptor interacting protein 2

Synonyms

NIX1

MMRRC Submission

042527-MU

Accession Numbers

Essential gene?

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

Stock #

R4926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128374780-128386747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 128385337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 256 (H256P)

Ref Sequence

ENSEMBL: ENSMUSP00000113317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001559] [ENSMUST00000001561] [ENSMUST00000120405] [ENSMUST00000123867] [ENSMUST00000142615] [ENSMUST00000203374] [ENSMUST00000203853] [ENSMUST00000204836] [ENSMUST00000204223]

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 benign
Transcript: ENSMUST00000001561

SMART Domains

Protein: ENSMUSP00000001561
Gene: ENSMUSG00000001520

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120405
AA Change: H256P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113317
Gene: ENSMUSG00000001520
AA Change: H256P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123867

SMART Domains

Protein: ENSMUSP00000122558
Gene: ENSMUSG00000001520

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 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

probably benign
Transcript: ENSMUST00000203853

SMART Domains

Protein: ENSMUSP00000145282
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	85	3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204836

SMART Domains

Protein: ENSMUSP00000144750
Gene: ENSMUSG00000001520

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204362

Predicted Effect

probably benign
Transcript: ENSMUST00000204223

SMART Domains

Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203195

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,272,498 (GRCm39)	D136V	probably damaging	Het
Ankrd17	G	A	5: 90,447,891 (GRCm39)	R217W	probably damaging	Het
Ankrd23	A	T	1: 36,571,068 (GRCm39)	H102Q	probably damaging	Het
Arfip2	G	T	7: 105,287,151 (GRCm39)	R138S	probably damaging	Het
Arhgap27	A	T	11: 103,229,949 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,563 (GRCm39)	L1499P	probably damaging	Het
Bnc2	A	G	4: 84,194,416 (GRCm39)	S110P	probably damaging	Het
Ccdc171	T	C	4: 83,476,829 (GRCm39)		probably benign	Het
Ccdc7a	A	G	8: 129,706,535 (GRCm39)		probably benign	Het
Chd5	T	C	4: 152,467,768 (GRCm39)	S1689P	probably benign	Het
Corin	A	G	5: 72,529,525 (GRCm39)	C212R	probably damaging	Het
Cyp2c65	A	G	19: 39,049,597 (GRCm39)	I42V	probably benign	Het
Cyp3a25	G	A	5: 145,928,266 (GRCm39)	R260C	probably damaging	Het
Dock6	T	C	9: 21,757,087 (GRCm39)	Y116C	probably damaging	Het
Eif3a	A	G	19: 60,751,656 (GRCm39)		probably benign	Het
Epop	T	C	11: 97,519,143 (GRCm39)	D322G	probably damaging	Het
Eps8l3	T	A	3: 107,798,004 (GRCm39)		probably benign	Het
Exph5	T	C	9: 53,287,925 (GRCm39)	S1669P	possibly damaging	Het
Faah	A	T	4: 115,856,823 (GRCm39)		probably benign	Het
Fanca	A	G	8: 124,030,724 (GRCm39)	C453R	probably benign	Het
Fcgbp	T	A	7: 27,785,660 (GRCm39)	C366S	probably damaging	Het
Fmn2	A	G	1: 174,329,981 (GRCm39)	T124A	unknown	Het
Foxi3	C	T	6: 70,933,996 (GRCm39)	S161L	probably damaging	Het
Foxo3	A	T	10: 42,073,020 (GRCm39)	V499E	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gbgt1	T	C	2: 28,393,182 (GRCm39)	V90A	probably damaging	Het
Gm839	A	C	6: 89,189,581 (GRCm39)		noncoding transcript	Het
Gtf3c2	T	C	5: 31,326,467 (GRCm39)	E348G	possibly damaging	Het
Hnrnpm	G	T	17: 33,868,775 (GRCm39)	R551S	probably damaging	Het
Hspa1l	A	G	17: 35,197,199 (GRCm39)	T413A	possibly damaging	Het
Hspg2	T	C	4: 137,269,841 (GRCm39)	Y2297H	probably damaging	Het
Ighv1-81	T	A	12: 115,884,093 (GRCm39)	I53L	probably benign	Het
Kcnj11	C	T	7: 45,748,544 (GRCm39)	V260I	probably benign	Het
Krt84	A	G	15: 101,438,689 (GRCm39)	V266A	probably benign	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrrc41	T	C	4: 115,946,521 (GRCm39)	V412A	possibly damaging	Het
Map4k4	A	T	1: 40,056,385 (GRCm39)	E1023D	probably damaging	Het
Mark3	T	A	12: 111,584,758 (GRCm39)	L118*	probably null	Het
Mrgpra9	T	A	7: 46,884,759 (GRCm39)	T303S	possibly damaging	Het
Mterf4	T	C	1: 93,232,647 (GRCm39)	E68G	probably benign	Het
Nckap5	A	C	1: 126,456,378 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,169 (GRCm39)	T339S	probably damaging	Het
Oas1d	T	C	5: 121,053,831 (GRCm39)	V97A	probably benign	Het
Obox2	T	A	7: 15,131,102 (GRCm39)		probably null	Het
Opa1	T	C	16: 29,467,791 (GRCm39)	F989S	possibly damaging	Het
Or10g9	T	C	9: 39,912,319 (GRCm39)		probably null	Het
Padi1	T	A	4: 140,552,158 (GRCm39)	I429F	probably damaging	Het
Paics	A	G	5: 77,109,051 (GRCm39)	D163G	probably damaging	Het
Pik3c2b	G	T	1: 133,027,364 (GRCm39)	E1288*	probably null	Het
Prdm16	A	T	4: 154,426,009 (GRCm39)	V593D	possibly damaging	Het
Prpf39	A	G	12: 65,090,830 (GRCm39)	I165M	possibly damaging	Het
Pth2r	A	G	1: 65,361,143 (GRCm39)	T26A	probably benign	Het
Ptpn21	T	C	12: 98,681,454 (GRCm39)		probably null	Het
Rab44	C	T	17: 29,358,529 (GRCm39)	A239V	probably benign	Het
Rtcb	T	C	10: 85,791,600 (GRCm39)	N52S	probably benign	Het
Sapcd2	T	A	2: 25,263,578 (GRCm39)		probably null	Het
Scaf11	T	C	15: 96,316,123 (GRCm39)	E1147G	possibly damaging	Het
Selenoo	T	C	15: 88,983,881 (GRCm39)	Y595H	probably damaging	Het
Slc2a5	G	T	4: 150,205,199 (GRCm39)	E3*	probably null	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sorbs2	A	G	8: 46,249,254 (GRCm39)	K755R	probably benign	Het
Sorbs3	G	T	14: 70,424,394 (GRCm39)	P513T	probably damaging	Het
Sowaha	T	A	11: 53,370,337 (GRCm39)	E133V	possibly damaging	Het
Srsf5	T	C	12: 80,994,075 (GRCm39)		probably benign	Het
St8sia5	T	A	18: 77,342,478 (GRCm39)	M396K	possibly damaging	Het
Tcp11l1	T	C	2: 104,512,130 (GRCm39)	I501V	probably benign	Het
Tert	A	G	13: 73,796,508 (GRCm39)	K1080E	possibly damaging	Het
Tescl	T	A	7: 24,033,323 (GRCm39)	M1L	possibly damaging	Het
Thop1	T	A	10: 80,909,201 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,210,618 (GRCm39)	H80R	probably damaging	Het
Toe1	C	T	4: 116,661,729 (GRCm39)	S480N	probably damaging	Het
Trap1	C	A	16: 3,863,352 (GRCm39)	V557F	probably benign	Het
Trim30d	T	C	7: 104,132,564 (GRCm39)	E91G	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttll8	C	A	15: 88,798,368 (GRCm39)	G789V	probably damaging	Het
Ulk4	A	G	9: 121,087,798 (GRCm39)	F298S	probably benign	Het
Wwc1	C	T	11: 35,780,227 (GRCm39)	A243T	probably benign	Het
Zfp248	A	C	6: 118,406,787 (GRCm39)	H267Q	possibly damaging	Het
Zfyve26	T	A	12: 79,321,785 (GRCm39)	M945L	probably benign	Het
Zup1	T	C	10: 33,825,434 (GRCm39)	D16G	probably damaging	Het

Other mutations in Nrip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02217:Nrip2	APN	6	128,383,502 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGTGGGTATTACCTGAGCAG -3'
(R):5'- CGATTTGAGAGGCTGACCAG -3'

Sequencing Primer
(F):5'- CTGGAGACCACTGCATTAATTTC -3'
(R):5'- TGCCACCCAGAAAGGCTACTG -3'

Posted On

2016-04-15