Mutagenetix > Incidental Mutation

Incidental Mutation 'R0310:Nr0b2'

216051

Institutional Source

Beutler Lab

Gene Symbol

Nr0b2

Ensembl Gene

ENSMUSG00000037583

Gene Name

nuclear receptor subfamily 0, group B, member 2

Synonyms

SHP-1, small heterodimer partner, SHP

MMRRC Submission

038520-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0310 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

133280687-133283847 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 133283303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042706]

AlphaFold

Q62227

PDB Structure

Mouse SF-1 LBD [X-RAY DIFFRACTION]
Crystal Structure of SHP/EID1 [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000042706

SMART Domains

Protein: ENSMUSP00000039175
Gene: ENSMUSG00000037583

Domain	Start	End	E-Value	Type
HOLI	60	231	1.08e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175076

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 93.3%
20x: 82.5%

Validation Efficiency

99% (113/114)

MGI Phenotype

FUNCTION: This gene encodes a member of the nuclear hormone receptor family of proteins. The encoded orphan receptor lacks a DNA binding domain but modulates gene expression by interacting with other hormone receptors to competitively inhibit binding of coactivators while also acting as a transcriptional corepressor. The encoded receptor may regulate bile acid synthesis and sexual maturation in males. Homozygous knockout mice exhibit accumulation of bile acids, reduced levels of low density lipoprotein cholesterol (LDL-C), and in male mice, earlier testicular maturation. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile and exhibit no major defects in cholesterol metabolism under normal conditions. Under high cholesterol and cholic acid or iodine-deficient diets, mice exhibit decreased lipid levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,336,971 (GRCm39)	T92P	probably damaging	Het
Abca13	T	C	11: 9,243,810 (GRCm39)	V1891A	probably benign	Het
Abcc1	T	A	16: 14,228,791 (GRCm39)	I346N	probably damaging	Het
Afdn	G	T	17: 14,105,770 (GRCm39)		probably null	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,264,678 (GRCm39)	D507G	probably damaging	Het
Akap8	A	T	17: 32,535,234 (GRCm39)	M260K	possibly damaging	Het
Akr1b8	T	C	6: 34,342,194 (GRCm39)	V265A	probably benign	Het
Alpk3	C	G	7: 80,728,358 (GRCm39)	P496R	possibly damaging	Het
Ankrd13b	A	G	11: 77,363,571 (GRCm39)	V249A	possibly damaging	Het
Arid4a	T	C	12: 71,122,604 (GRCm39)	V995A	probably benign	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
Atad2	G	A	15: 57,977,653 (GRCm39)	A499V	probably damaging	Het
Barhl2	G	T	5: 106,605,253 (GRCm39)	A152E	possibly damaging	Het
Bbs12	T	A	3: 37,375,194 (GRCm39)	D547E	probably damaging	Het
Btaf1	A	G	19: 36,981,934 (GRCm39)	M1655V	probably damaging	Het
Ccdc50	T	A	16: 27,225,408 (GRCm39)	H40Q	probably damaging	Het
Ccr9	A	T	9: 123,603,617 (GRCm39)		probably benign	Het
Cdh15	A	G	8: 123,592,175 (GRCm39)	D654G	probably damaging	Het
Cebpz	T	C	17: 79,233,553 (GRCm39)	D758G	probably damaging	Het
Cgn	C	T	3: 94,672,960 (GRCm39)	R906K	possibly damaging	Het
Chil3	T	A	3: 106,067,839 (GRCm39)	M109L	possibly damaging	Het
Cntnap4	A	T	8: 113,569,148 (GRCm39)		probably null	Het
Cyp4f18	C	T	8: 72,754,856 (GRCm39)		probably benign	Het
Daam2	A	G	17: 49,770,952 (GRCm39)		probably null	Het
Ddost	T	A	4: 138,037,922 (GRCm39)	H220Q	probably benign	Het
Dennd2a	C	T	6: 39,441,135 (GRCm39)		probably benign	Het
Depdc1b	G	A	13: 108,510,375 (GRCm39)	V296I	possibly damaging	Het
Dnaaf4	A	T	9: 72,879,618 (GRCm39)	D386V	probably damaging	Het
Dnah5	A	T	15: 28,299,256 (GRCm39)	R1539S	probably benign	Het
Dusp22	T	C	13: 30,889,641 (GRCm39)	I74T	probably damaging	Het
Epc1	A	G	18: 6,440,202 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,961,301 (GRCm39)	I845V	probably benign	Het
Fanci	C	T	7: 79,057,165 (GRCm39)		probably benign	Het
Fbn1	T	A	2: 125,205,564 (GRCm39)	E1104V	probably damaging	Het
Fbxo8	T	A	8: 57,043,132 (GRCm39)	F205L	probably damaging	Het
Fcgbpl1	G	T	7: 27,841,699 (GRCm39)	V545L	probably benign	Het
Fetub	T	C	16: 22,748,506 (GRCm39)		probably benign	Het
Frs3	T	C	17: 48,014,747 (GRCm39)	V480A	probably benign	Het
Gne	C	A	4: 44,060,157 (GRCm39)	E79*	probably null	Het
Hrc	T	A	7: 44,985,921 (GRCm39)	H357Q	probably benign	Het
Idh1	T	C	1: 65,201,079 (GRCm39)	M291V	probably damaging	Het
Il22b	T	A	10: 118,129,090 (GRCm39)	H133L	probably benign	Het
Ino80b	T	C	6: 83,101,072 (GRCm39)	E165G	probably damaging	Het
Inppl1	A	T	7: 101,477,706 (GRCm39)		probably benign	Het
Ints15	G	T	5: 143,293,643 (GRCm39)	T278K	probably benign	Het
Ip6k2	T	C	9: 108,676,432 (GRCm39)		probably benign	Het
Itga11	A	T	9: 62,667,628 (GRCm39)	I654F	probably damaging	Het
Jag2	G	T	12: 112,876,997 (GRCm39)		probably benign	Het
Katna1	G	T	10: 7,619,513 (GRCm39)		probably benign	Het
Kcnh4	G	T	11: 100,636,995 (GRCm39)	S707Y	probably benign	Het
Kcnn2	T	G	18: 45,693,585 (GRCm39)	L387R	probably damaging	Het
Khnyn	A	G	14: 56,125,425 (GRCm39)	T503A	probably damaging	Het
Lama5	G	T	2: 179,823,359 (GRCm39)		probably benign	Het
Lmbr1l	A	T	15: 98,806,654 (GRCm39)		probably benign	Het
Mast4	A	T	13: 102,890,669 (GRCm39)	S870T	possibly damaging	Het
Med1	A	G	11: 98,058,400 (GRCm39)	Y266H	probably benign	Het
Med13	A	T	11: 86,236,829 (GRCm39)	N109K	probably benign	Het
Mgam	T	C	6: 40,737,969 (GRCm39)		probably benign	Het
Mmp8	A	G	9: 7,561,455 (GRCm39)	Q153R	probably benign	Het
Mpeg1	C	A	19: 12,439,055 (GRCm39)	T171N	probably benign	Het
Mtus2	T	C	5: 148,043,829 (GRCm39)	S806P	probably benign	Het
Naip2	T	A	13: 100,285,350 (GRCm39)	E1226V	probably damaging	Het
Naip6	A	G	13: 100,444,721 (GRCm39)	F246L	possibly damaging	Het
Nav3	T	C	10: 109,602,989 (GRCm39)	I1187V	possibly damaging	Het
Nbeal1	T	C	1: 60,344,529 (GRCm39)		probably benign	Het
Nbeal2	C	A	9: 110,467,231 (GRCm39)	V653L	probably damaging	Het
Ndufa9	G	T	6: 126,804,495 (GRCm39)		probably benign	Het
Nlrp5	G	T	7: 23,129,582 (GRCm39)	C883F	probably damaging	Het
Or1m1	T	A	9: 18,666,629 (GRCm39)	M101L	possibly damaging	Het
Or6c209	T	A	10: 129,483,600 (GRCm39)	V201E	probably damaging	Het
Or6c69c	G	A	10: 129,910,692 (GRCm39)	V138I	probably benign	Het
Or8b101	T	A	9: 38,020,782 (GRCm39)	S267T	possibly damaging	Het
Pkhd1	A	T	1: 20,620,046 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,386,134 (GRCm39)		probably benign	Het
Ppm1l	A	G	3: 69,456,794 (GRCm39)	K237R	probably benign	Het
Ppp1r18	T	C	17: 36,184,603 (GRCm39)		probably benign	Het
Ptpn3	A	T	4: 57,204,958 (GRCm39)	D734E	probably benign	Het
Pxdn	T	C	12: 30,065,528 (GRCm39)	C1283R	probably damaging	Het
Rbm12	A	G	2: 155,937,644 (GRCm39)		probably benign	Het
Rttn	A	T	18: 89,027,584 (GRCm39)		probably benign	Het
Sgsm1	G	T	5: 113,411,571 (GRCm39)	H431Q	probably benign	Het
Siah3	A	G	14: 75,763,367 (GRCm39)	N206S	possibly damaging	Het
Slc22a15	G	T	3: 101,767,827 (GRCm39)	D521E	probably benign	Het
Sprr2k	A	T	3: 92,340,770 (GRCm39)		probably benign	Het
Stab2	G	A	10: 86,803,477 (GRCm39)		probably benign	Het
Sval3	T	A	6: 41,945,120 (GRCm39)	L16Q	probably damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Tk1	T	C	11: 117,707,921 (GRCm39)		probably benign	Het
Tlk2	C	A	11: 105,145,799 (GRCm39)	A335E	probably benign	Het
Tmtc1	T	C	6: 148,151,079 (GRCm39)	K659E	probably benign	Het
Tnk2	C	T	16: 32,499,408 (GRCm39)	P907L	probably benign	Het
Trim14	C	A	4: 46,522,043 (GRCm39)	K211N	probably damaging	Het
Trim15	A	C	17: 37,177,878 (GRCm39)	L39R	probably damaging	Het
Tspan15	T	A	10: 62,023,872 (GRCm39)	T269S	probably benign	Het
Ttc7	T	A	17: 87,669,292 (GRCm39)	D646E	probably benign	Het
Ttll6	A	T	11: 96,038,382 (GRCm39)	Q410L	probably benign	Het
Unc79	A	G	12: 103,027,666 (GRCm39)	Q419R	probably damaging	Het
Vcam1	A	T	3: 115,908,065 (GRCm39)	Y666N	possibly damaging	Het
Vmn1r10	A	T	6: 57,090,486 (GRCm39)	Y26F	probably damaging	Het
Vmn1r80	A	G	7: 11,927,775 (GRCm39)	N295S	probably benign	Het
Vmn2r114	A	T	17: 23,509,917 (GRCm39)	H854Q	probably benign	Het
Vmn2r2	A	T	3: 64,042,039 (GRCm39)	D225E	probably damaging	Het
Vmn2r4	A	T	3: 64,296,855 (GRCm39)	Y643*	probably null	Het
Vmn2r52	T	A	7: 9,893,393 (GRCm39)	Y582F	probably damaging	Het
Vmn2r60	G	T	7: 41,844,564 (GRCm39)	L642F	possibly damaging	Het
Zbtb20	T	C	16: 43,430,109 (GRCm39)	S207P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het
Zkscan7	G	T	9: 122,717,958 (GRCm39)	E118*	probably null	Het

Other mutations in Nr0b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0166:Nr0b2	UTSW	4	133,281,049 (GRCm39)	missense	probably damaging	1.00
R0403:Nr0b2	UTSW	4	133,281,070 (GRCm39)	missense	probably damaging	1.00
R0759:Nr0b2	UTSW	4	133,281,049 (GRCm39)	missense	probably damaging	1.00
R0987:Nr0b2	UTSW	4	133,283,503 (GRCm39)	missense	probably benign	0.00
R1005:Nr0b2	UTSW	4	133,280,785 (GRCm39)	missense	probably benign	0.23
R4824:Nr0b2	UTSW	4	133,283,334 (GRCm39)	missense	probably damaging	1.00
R5281:Nr0b2	UTSW	4	133,283,335 (GRCm39)	missense	probably benign	0.01
R7942:Nr0b2	UTSW	4	133,280,847 (GRCm39)	missense	probably benign
R8008:Nr0b2	UTSW	4	133,283,339 (GRCm39)	missense	probably benign
R8263:Nr0b2	UTSW	4	133,281,241 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAAGGTGGTAGAGTGAGCCAATG -3'
(R):5'- CTGTATCCAAAGCAAGGAAGTCCGAG -3'

Sequencing Primer
(F):5'- CTCATTAGTGAAGGATCGCCTC -3'
(R):5'- GATGTCAACGTCTCCCATGATAGG -3'

Posted On

2014-07-17