|Institutional Source||Beutler Lab|
|Gene Name||nuclear receptor subfamily 0, group B, member 2|
|Synonyms||SHP-1, SHP, small heterodimer partner|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0759 (G1)|
|Chromosomal Location||133553376-133556536 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 133553738 bp|
|Amino Acid Change||Glutamine to Leucine at position 105 (Q105L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039175 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042706]|
|Predicted Effect||probably damaging
AA Change: Q105L
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: Q105L
|Coding Region Coverage||
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||
|Other mutations in Nr0b2||
(F):5'- GCAGGTCGTCCGACTATTCTGTATG -3'
(R):5'- ACAATGGGTGTCAAGCCCCAAG -3'
(F):5'- GTATGCACTTCTGAGCCCCAG -3'
(R):5'- CCAAGAAAGCACTTTCCTTGGATG -3'