Mutagenetix > Incidental Mutation

Incidental Mutation 'R8956:Nrip1'

682058

Institutional Source

Beutler Lab

Gene Symbol

Nrip1

Ensembl Gene

ENSMUSG00000048490

Gene Name

nuclear receptor interacting protein 1

Synonyms

8430438I05Rik, 6030458L20Rik, RIP140

MMRRC Submission

068792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76084288-76170715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 76089193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 788 (A788G)

Ref Sequence

ENSEMBL: ENSMUSP00000112959 (fasta)

Gene Model

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

AlphaFold

Q8CBD1

Predicted Effect

probably benign
Transcript: ENSMUST00000054178
AA Change: A788G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: A788G

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: A788G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: A788G

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: 99.6%
20x: 98.7%

Validation Efficiency

98% (87/89)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	C	T	7: 78,750,713 (GRCm39)	T1828I	probably benign	Het
Acsf2	A	G	11: 94,461,211 (GRCm39)	S322P	probably benign	Het
Acss2	T	A	2: 155,391,438 (GRCm39)	I170N	probably damaging	Het
Adam22	G	A	5: 8,142,343 (GRCm39)	T814I	probably damaging	Het
Agrn	G	T	4: 156,250,995 (GRCm39)	D1914E	probably damaging	Het
Akap6	T	C	12: 53,187,127 (GRCm39)	S1514P	probably benign	Het
Akap9	T	C	5: 3,998,805 (GRCm39)	L58P	possibly damaging	Het
Apof	A	G	10: 128,105,712 (GRCm39)	I289V	probably benign	Het
Arhgap35	G	A	7: 16,348,404 (GRCm39)		probably benign	Het
Atad3a	A	C	4: 155,838,054 (GRCm39)	F239L	probably damaging	Het
Atf6	T	C	1: 170,621,576 (GRCm39)	T482A	probably damaging	Het
Atg9b	T	C	5: 24,591,850 (GRCm39)		probably benign	Het
Atp8b4	T	A	2: 126,167,327 (GRCm39)		probably null	Het
B4galt5	T	C	2: 167,143,260 (GRCm39)	Y388C	probably damaging	Het
Bahd1	T	C	2: 118,749,689 (GRCm39)	L495P	probably damaging	Het
Bcl6	T	C	16: 23,793,716 (GRCm39)	E77G	probably damaging	Het
Bst1	C	A	5: 43,982,716 (GRCm39)	S187*	probably null	Het
Car4	A	G	11: 84,855,377 (GRCm39)	N170S	probably null	Het
Cdk14	A	T	5: 5,277,182 (GRCm39)	V131E	probably damaging	Het
Cdk4	T	A	10: 126,900,546 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,121 (GRCm39)	R99G	probably damaging	Het
Col9a1	G	A	1: 24,276,300 (GRCm39)	G736D	probably damaging	Het
Copa	T	A	1: 171,937,480 (GRCm39)	V477D	possibly damaging	Het
Coq9	G	A	8: 95,576,886 (GRCm39)	G166D	probably benign	Het
Cttnbp2	A	T	6: 18,434,165 (GRCm39)	N564K	possibly damaging	Het
Dgkq	T	C	5: 108,798,095 (GRCm39)	N721S	probably benign	Het
Dnhd1	A	T	7: 105,341,852 (GRCm39)	Y1217F	probably damaging	Het
Eef1akmt4	G	T	16: 20,437,398 (GRCm39)	E247*	probably null	Het
Elovl7	A	T	13: 108,393,320 (GRCm39)	I18F	probably benign	Het
Eml5	T	C	12: 98,818,952 (GRCm39)	K785E	possibly damaging	Het
Faap100	C	A	11: 120,268,185 (GRCm39)	C196F	probably damaging	Het
Fat2	G	A	11: 55,173,729 (GRCm39)	T2328M	probably damaging	Het
Gcnt2	T	A	13: 41,041,204 (GRCm39)	I121N	probably benign	Het
Gm12253	A	G	11: 58,327,605 (GRCm39)	K152E	probably benign	Het
Gm16440	T	A	14: 17,574,527 (GRCm39)	R167*	probably null	Het
Gm43302	T	A	5: 105,425,602 (GRCm39)	I276F	possibly damaging	Het
Gys2	A	G	6: 142,374,267 (GRCm39)	S593P	probably damaging	Het
H2-M10.4	T	A	17: 36,772,245 (GRCm39)	N168Y	probably benign	Het
Hpca	C	A	4: 129,012,287 (GRCm39)	R83L	probably damaging	Het
Igkv8-28	A	G	6: 70,121,109 (GRCm39)	F13L	probably benign	Het
Il17ra	A	T	6: 120,458,465 (GRCm39)	I539F	probably damaging	Het
Kdm4a	A	G	4: 118,019,013 (GRCm39)	V401A	possibly damaging	Het
Krt86	A	T	15: 101,375,157 (GRCm39)	T351S	probably benign	Het
Lig4	A	G	8: 10,021,378 (GRCm39)	C801R	probably benign	Het
Lrrn4	G	A	2: 132,714,011 (GRCm39)	P312S	probably damaging	Het
Macf1	T	A	4: 123,368,641 (GRCm39)	H2040L	probably benign	Het
Madcam1	A	G	10: 79,502,466 (GRCm39)	K317E	possibly damaging	Het
Maip1	T	C	1: 57,450,961 (GRCm39)	I201T	probably damaging	Het
Map4k4	C	A	1: 40,039,840 (GRCm39)	D513E	probably benign	Het
Mideas	T	A	12: 84,209,102 (GRCm39)	I667L	probably benign	Het
Mpped1	G	A	15: 83,740,469 (GRCm39)	G137R	probably damaging	Het
Mrgprd	T	G	7: 144,875,923 (GRCm39)	F265V	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Mylk	A	G	16: 34,791,779 (GRCm39)	T1484A	probably benign	Het
Nbas	C	T	12: 13,482,923 (GRCm39)	S1400L	possibly damaging	Het
Nedd4	T	A	9: 72,633,708 (GRCm39)	S405T	probably benign	Het
Neil2	A	G	14: 63,429,227 (GRCm39)	V22A	probably damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or10ab4	A	G	7: 107,655,160 (GRCm39)	T324A	probably benign	Het
Or10d4c	C	T	9: 39,558,496 (GRCm39)	T158I	probably damaging	Het
Or2b7	T	C	13: 21,740,169 (GRCm39)	I8V	probably benign	Het
Or2bd2	G	A	7: 6,442,020 (GRCm39)		probably benign	Het
Or2r2	T	A	6: 42,463,830 (GRCm39)	Q99L	probably damaging	Het
Or6c215	C	T	10: 129,638,222 (GRCm39)	M57I	possibly damaging	Het
Orc2	T	C	1: 58,505,221 (GRCm39)	N478S	probably damaging	Het
Oxct1	A	G	15: 4,064,806 (GRCm39)	E48G	possibly damaging	Het
Pcca	A	G	14: 122,975,324 (GRCm39)	I28V	probably benign	Het
Pcdha8	T	C	18: 37,126,241 (GRCm39)	V241A	probably benign	Het
Pgap6	T	A	17: 26,339,374 (GRCm39)	S563T	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkd2	T	A	5: 104,631,090 (GRCm39)	W505R	probably damaging	Het
Plxnc1	C	T	10: 94,746,448 (GRCm39)	V430I	probably benign	Het
Prkd3	A	G	17: 79,278,883 (GRCm39)	M401T	probably damaging	Het
Rgmb	A	G	17: 16,027,748 (GRCm39)	C324R	probably benign	Het
Rsph6a	A	T	7: 18,799,364 (GRCm39)		probably benign	Het
Sclt1	A	T	3: 41,636,209 (GRCm39)	M264K	probably benign	Het
Serhl	T	A	15: 82,985,899 (GRCm39)	V30D	possibly damaging	Het
Sfrp1	T	C	8: 23,902,159 (GRCm39)	V120A	probably damaging	Het
Slc22a8	C	T	19: 8,587,030 (GRCm39)	Q408*	probably null	Het
Slc35b2	A	G	17: 45,877,673 (GRCm39)	T218A	probably damaging	Het
Slco4c1	A	T	1: 96,765,242 (GRCm39)	F403I	probably damaging	Het
Sorbs1	T	A	19: 40,351,660 (GRCm39)	H250L	probably damaging	Het
Sorcs3	T	A	19: 48,737,810 (GRCm39)	C742*	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Tor1aip1	T	A	1: 155,909,582 (GRCm39)		probably benign	Het
Trim9	T	C	12: 70,393,665 (GRCm39)	Q93R	probably damaging	Het
Tsnaxip1	A	G	8: 106,570,813 (GRCm39)	Y613C	probably damaging	Het
Ttc6	C	T	12: 57,775,196 (GRCm39)	Q1631*	probably null	Het
Ubr5	A	G	15: 38,015,367 (GRCm39)	L881P	probably damaging	Het
Upp2	C	T	2: 58,457,454 (GRCm39)		probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn2r116	A	T	17: 23,605,736 (GRCm39)	D216V	probably damaging	Het
Vps52	A	G	17: 34,177,049 (GRCm39)	Q96R	probably benign	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
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
R9476:Nrip1	UTSW	16	76,089,820 (GRCm39)	missense	probably benign	0.26
Z1177:Nrip1	UTSW	16	76,090,367 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTTCGACTCCAGGGTTGG -3'
(R):5'- CAGTTGCTCCTGGGAAATTCC -3'

Sequencing Primer
(F):5'- GGCAGCTCACTGTTTCTGTGAC -3'
(R):5'- CTGGGAAATTCCAGCAAAGGG -3'

Posted On

2021-08-31