|Institutional Source||Beutler Lab|
|Gene Name||nuclear receptor subfamily 1, group I, member 2|
|Synonyms||PXR.1, mPXR, SXR, Pregnane X receptor, PXR.2, PXR|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3623 (G1)|
|Chromosomal Location||38248323-38294824 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 38265907 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000023504 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023504]|
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but exhibit specific loss of xenoregulation of CYP3A11. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nr1i2||
(F):5'- AATGATCCTTTCCTGGGCAG -3'
(R):5'- CGAGTTGGCCTTGTACAGTG -3'
(F):5'- ATCCTTTCCTGGGCAGCAGAAG -3'
(R):5'- CTTGTACAGTGTGAAGAAGCAGACTC -3'