Mutagenetix > Incidental Mutation

Incidental Mutation 'R9476:Nrip1'

715816

Institutional Source

Beutler Lab

Gene Symbol

Nrip1

Ensembl Gene

ENSMUSG00000048490

Gene Name

nuclear receptor interacting protein 1

Synonyms

8430438I05Rik, 6030458L20Rik, RIP140

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76084288-76170715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76089820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 579 (N579S)

Ref Sequence

ENSEMBL: ENSMUSP00000051726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054178] [ENSMUST00000121927] [ENSMUST00000140483] [ENSMUST00000231585]

AlphaFold

Q8CBD1

Predicted Effect

probably benign
Transcript: ENSMUST00000054178
AA Change: N579S

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: N579S

Domain	Start	End	E-Value	Type
low complexity region	182	195	N/A	INTRINSIC
low complexity region	252	261	N/A	INTRINSIC
PDB:2GPP\|D	368	392	2e-7	PDB
low complexity region	707	718	N/A	INTRINSIC
low complexity region	719	731	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121927
AA Change: N579S

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: N579S

Domain	Start	End	E-Value	Type
Pfam:NRIP1_repr_1	27	331	5.4e-141	PFAM
PDB:2GPP\|D	368	392	2e-7	PDB
Pfam:NRIP1_repr_2	412	739	7.5e-122	PFAM
Pfam:NRIP1_repr_3	754	841	8.4e-45	PFAM
Pfam:NRIP1_repr_4	849	1161	1.7e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140483

Predicted Effect

probably benign
Transcript: ENSMUST00000231585

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygosity for targeted disruption of this gene results in female infertility due to ovulation failure. Heterozygous females are partially affected. Male and female mice are smaller than wild-type littermates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	G	4: 42,760,998 (GRCm39)	W6G	unknown	Het
Aatk	A	T	11: 119,901,094 (GRCm39)	C1101S	probably benign	Het
Abcb4	A	T	5: 8,977,790 (GRCm39)	D456V	probably damaging	Het
Abcc8	T	C	7: 45,819,270 (GRCm39)	E186G	possibly damaging	Het
Adam18	T	C	8: 25,115,807 (GRCm39)	N629S	probably benign	Het
Angpt2	T	G	8: 18,764,143 (GRCm39)	N133T	probably benign	Het
Ankrd13c	T	A	3: 157,697,396 (GRCm39)	S334T	probably benign	Het
Ankrd13d	A	T	19: 4,320,289 (GRCm39)	S151T	unknown	Het
Ap3d1	G	A	10: 80,545,655 (GRCm39)	P1025S	probably benign	Het
Bhlhe41	G	A	6: 145,808,948 (GRCm39)	A288V	possibly damaging	Het
Cacna1b	T	C	2: 24,540,058 (GRCm39)	E1467G	probably damaging	Het
Cacna1h	T	A	17: 25,611,524 (GRCm39)	T425S	probably damaging	Het
Cdk13	A	C	13: 17,902,747 (GRCm39)	C934W	probably damaging	Het
Ces1b	T	A	8: 93,799,890 (GRCm39)	N162I	probably damaging	Het
Clec9a	T	A	6: 129,398,023 (GRCm39)	I187K	possibly damaging	Het
Cpsf3	A	G	12: 21,350,080 (GRCm39)	I266M	probably damaging	Het
Cr2	G	T	1: 194,840,416 (GRCm39)	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,311,446 (GRCm39)	G448W	probably damaging	Het
Csmd1	T	A	8: 15,981,215 (GRCm39)		probably null	Het
Cul9	G	A	17: 46,821,833 (GRCm39)	R1881W	probably damaging	Het
Cyth1	C	T	11: 118,076,206 (GRCm39)		probably null	Het
Dnhd1	A	T	7: 105,352,889 (GRCm39)	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,213,739 (GRCm39)	M476V	probably benign	Het
Dnmt3a	A	G	12: 3,957,707 (GRCm39)	H896R	probably damaging	Het
Dock1	T	G	7: 134,592,279 (GRCm39)	I938S	probably benign	Het
Dock6	G	A	9: 21,724,821 (GRCm39)	L1515F	probably damaging	Het
Dusp16	T	C	6: 134,695,226 (GRCm39)	H535R	probably benign	Het
Fancd2os	T	A	6: 113,574,994 (GRCm39)	Y4F	probably damaging	Het
Fat4	A	T	3: 39,037,886 (GRCm39)	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,743,814 (GRCm39)	H240P	probably benign	Het
Frmd4a	A	G	2: 4,608,324 (GRCm39)	T731A	probably benign	Het
Gm44501	T	A	17: 40,889,820 (GRCm39)	H111Q	possibly damaging	Het
Gsdmc	T	C	15: 63,650,551 (GRCm39)	M277V	probably benign	Het
Hira	A	G	16: 18,772,789 (GRCm39)	D867G	probably damaging	Het
Hmcn1	A	G	1: 150,462,127 (GRCm39)	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,752,407 (GRCm39)	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,967,796 (GRCm39)	E102K	possibly damaging	Het
Inmt	G	T	6: 55,147,990 (GRCm39)	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,135,335 (GRCm39)	M360L	probably benign	Het
Itih3	A	G	14: 30,631,416 (GRCm39)	S827P	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnk12	C	A	17: 88,054,122 (GRCm39)	R180L	probably benign	Het
Kndc1	G	A	7: 139,510,031 (GRCm39)	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,647,285 (GRCm39)	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,120,407 (GRCm39)	I426V	possibly damaging	Het
Mrpl21	T	G	19: 3,337,704 (GRCm39)	V137G	probably damaging	Het
Nrbp2	T	C	15: 75,961,626 (GRCm39)	N218S	probably damaging	Het
Nsf	T	C	11: 103,763,988 (GRCm39)	N365S	probably damaging	Het
Or6c5	A	G	10: 129,074,656 (GRCm39)	I213V	probably damaging	Het
Or7g28	A	T	9: 19,272,383 (GRCm39)	D89E	probably benign	Het
Osbpl3	C	T	6: 50,313,194 (GRCm39)		probably null	Het
Oscar	T	A	7: 3,614,843 (GRCm39)	H43L	probably benign	Het
Pam	C	T	1: 97,826,065 (GRCm39)		probably null	Het
Parn	A	T	16: 13,358,942 (GRCm39)	M600K	probably benign	Het
Pcdha11	C	A	18: 37,139,532 (GRCm39)	T387N	probably benign	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Prune2	T	A	19: 17,096,706 (GRCm39)	Y737N	possibly damaging	Het
Ptch1	G	A	13: 63,681,448 (GRCm39)	P613L	probably benign	Het
Ptprt	A	C	2: 161,397,381 (GRCm39)	C1129G	probably damaging	Het
Rara	C	T	11: 98,860,983 (GRCm39)	S157L	probably benign	Het
Rest	T	A	5: 77,416,098 (GRCm39)	M104K	probably damaging	Het
Rfc1	A	G	5: 65,437,142 (GRCm39)	S513P	probably damaging	Het
Rnf40	T	A	7: 127,201,808 (GRCm39)	I1000N	probably damaging	Het
Scube2	C	T	7: 109,430,969 (GRCm39)	G410E	probably damaging	Het
Sh3gl2	A	G	4: 85,304,089 (GRCm39)	E264G	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Smc4	T	G	3: 68,914,662 (GRCm39)	S92A	probably damaging	Het
Spata31d1b	A	G	13: 59,863,467 (GRCm39)	D205G	probably benign	Het
Spata31e4	A	G	13: 50,856,149 (GRCm39)	T596A	possibly damaging	Het
Spef2	T	C	15: 9,713,203 (GRCm39)	R390G	probably damaging	Het
Speg	T	C	1: 75,377,768 (GRCm39)	F842S	probably damaging	Het
Stk17b	G	T	1: 53,796,898 (GRCm39)	H290N	probably damaging	Het
Stpg3	A	T	2: 25,103,516 (GRCm39)	V191D	probably benign	Het
Supt6	C	T	11: 78,120,290 (GRCm39)	R350H	probably damaging	Het
Tet3	T	C	6: 83,380,935 (GRCm39)	E411G	possibly damaging	Het
Tet3	T	A	6: 83,381,808 (GRCm39)		probably null	Het
Tns3	A	G	11: 8,395,702 (GRCm39)	I1234T	probably damaging	Het
Trim34b	A	G	7: 103,980,503 (GRCm39)	E197G	probably damaging	Het
Vcan	G	T	13: 89,851,531 (GRCm39)	T1143K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,593 (GRCm39)	V671E	probably damaging	Het
Wdtc1	A	G	4: 133,049,529 (GRCm39)	V29A	probably damaging	Het
Zfp462	G	A	4: 55,080,735 (GRCm39)	M2450I	probably benign	Het
Zfp869	A	T	8: 70,159,849 (GRCm39)	C241*	probably null	Het

Other mutations in Nrip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Nrip1	APN	16	76,090,591 (GRCm39)	missense	possibly damaging	0.48
IGL00732:Nrip1	APN	16	76,089,949 (GRCm39)	missense	probably benign	0.31
IGL02024:Nrip1	APN	16	76,088,563 (GRCm39)	missense	probably benign	0.05
IGL02172:Nrip1	APN	16	76,088,380 (GRCm39)	missense	probably damaging	0.99
IGL02432:Nrip1	APN	16	76,088,668 (GRCm39)	missense	probably benign	0.04
IGL03025:Nrip1	APN	16	76,091,353 (GRCm39)	missense	probably benign	0.06
IGL03410:Nrip1	APN	16	76,089,379 (GRCm39)	missense	probably benign
PIT4802001:Nrip1	UTSW	16	76,090,157 (GRCm39)	missense	probably damaging	0.97
R0064:Nrip1	UTSW	16	76,091,558 (GRCm39)	utr 5 prime	probably benign
R0304:Nrip1	UTSW	16	76,089,595 (GRCm39)	missense	possibly damaging	0.67
R0320:Nrip1	UTSW	16	76,089,251 (GRCm39)	missense	probably benign	0.00
R0368:Nrip1	UTSW	16	76,090,904 (GRCm39)	missense	probably damaging	0.99
R1730:Nrip1	UTSW	16	76,089,778 (GRCm39)	missense	probably benign	0.42
R1783:Nrip1	UTSW	16	76,089,778 (GRCm39)	missense	probably benign	0.42
R1850:Nrip1	UTSW	16	76,090,232 (GRCm39)	missense	probably damaging	1.00
R1900:Nrip1	UTSW	16	76,088,927 (GRCm39)	missense	probably benign
R2252:Nrip1	UTSW	16	76,088,173 (GRCm39)	missense	probably damaging	1.00
R3935:Nrip1	UTSW	16	76,091,323 (GRCm39)	missense	possibly damaging	0.67
R4290:Nrip1	UTSW	16	76,088,876 (GRCm39)	missense	probably benign	0.00
R4426:Nrip1	UTSW	16	76,088,293 (GRCm39)	missense	possibly damaging	0.87
R4598:Nrip1	UTSW	16	76,089,968 (GRCm39)	missense	probably damaging	1.00
R4607:Nrip1	UTSW	16	76,089,920 (GRCm39)	missense	probably benign	0.00
R4608:Nrip1	UTSW	16	76,089,920 (GRCm39)	missense	probably benign	0.00
R5893:Nrip1	UTSW	16	76,090,841 (GRCm39)	missense	probably damaging	1.00
R5939:Nrip1	UTSW	16	76,089,010 (GRCm39)	missense	probably damaging	0.99
R5966:Nrip1	UTSW	16	76,090,471 (GRCm39)	missense	possibly damaging	0.47
R6093:Nrip1	UTSW	16	76,091,652 (GRCm39)	start gained	probably benign
R6154:Nrip1	UTSW	16	76,090,718 (GRCm39)	missense	probably damaging	1.00
R6639:Nrip1	UTSW	16	76,090,883 (GRCm39)	nonsense	probably null
R6910:Nrip1	UTSW	16	76,091,305 (GRCm39)	missense	probably damaging	1.00
R6921:Nrip1	UTSW	16	76,089,476 (GRCm39)	missense	possibly damaging	0.88
R7314:Nrip1	UTSW	16	76,088,078 (GRCm39)	missense	probably benign	0.00
R7346:Nrip1	UTSW	16	76,090,244 (GRCm39)	missense	possibly damaging	0.81
R7386:Nrip1	UTSW	16	76,090,775 (GRCm39)	missense	probably damaging	1.00
R7485:Nrip1	UTSW	16	76,088,338 (GRCm39)	missense	probably damaging	1.00
R7506:Nrip1	UTSW	16	76,091,347 (GRCm39)	missense	probably damaging	1.00
R7517:Nrip1	UTSW	16	76,088,072 (GRCm39)	makesense	probably null
R7657:Nrip1	UTSW	16	76,091,587 (GRCm39)	splice site	probably null
R7878:Nrip1	UTSW	16	76,091,554 (GRCm39)	start codon destroyed	probably null	0.99
R8068:Nrip1	UTSW	16	76,089,841 (GRCm39)	missense	possibly damaging	0.62
R8254:Nrip1	UTSW	16	76,088,287 (GRCm39)	missense	probably benign	0.02
R8261:Nrip1	UTSW	16	76,088,949 (GRCm39)	missense	possibly damaging	0.69
R8294:Nrip1	UTSW	16	76,089,418 (GRCm39)	missense	probably damaging	1.00
R8723:Nrip1	UTSW	16	76,089,553 (GRCm39)	missense	probably damaging	0.98
R8739:Nrip1	UTSW	16	76,088,236 (GRCm39)	missense	possibly damaging	0.51
R8956:Nrip1	UTSW	16	76,089,193 (GRCm39)	missense	probably benign	0.07
R8988:Nrip1	UTSW	16	76,088,902 (GRCm39)	missense	probably damaging	1.00
R9024:Nrip1	UTSW	16	76,088,388 (GRCm39)	nonsense	probably null
R9206:Nrip1	UTSW	16	76,089,616 (GRCm39)	missense	possibly damaging	0.93
R9208:Nrip1	UTSW	16	76,089,616 (GRCm39)	missense	possibly damaging	0.93
R9393:Nrip1	UTSW	16	76,091,353 (GRCm39)	missense	probably benign	0.06
Z1177:Nrip1	UTSW	16	76,090,367 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTGAGCCAAATTTTGTAAC -3'
(R):5'- TTGCTGCTCGGCCATAAAAG -3'

Sequencing Primer
(F):5'- CAGTTTACTGGCACTGAACG -3'
(R):5'- CTGTTGAAAGGAACGCCAGCC -3'

Posted On

2022-06-15