Incidental Mutation 'R1402:Nr1i2'
ID 500221
Institutional Source Beutler Lab
Gene Symbol Nr1i2
Ensembl Gene ENSMUSG00000022809
Gene Name nuclear receptor subfamily 1, group I, member 2
Synonyms PXR, Pregnane X receptor, SXR, PXR.1, PXR.2, mPXR
MMRRC Submission 039464-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1402 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 38068711-38115211 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38073245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 244 (S244P)
Ref Sequence ENSEMBL: ENSMUSP00000023504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023504]
AlphaFold O54915
Predicted Effect probably damaging
Transcript: ENSMUST00000023504
AA Change: S244P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023504
Gene: ENSMUSG00000022809
AA Change: S244P

DomainStartEndE-ValueType
ZnF_C4 35 107 6.32e-33 SMART
HOLI 242 401 4.61e-35 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 96.3%
  • 10x: 80.0%
  • 20x: 46.3%
Validation Efficiency
MGI Phenotype 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
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp8 T A 7: 123,065,862 (GRCm39) V219E probably damaging Het
Bves C T 10: 45,223,961 (GRCm39) T207M probably damaging Het
Dlg5 T C 14: 24,226,676 (GRCm39) S409G probably benign Het
Ehmt2 C T 17: 35,125,757 (GRCm39) T607I probably benign Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
H2-T22 A T 17: 36,351,161 (GRCm39) I307N possibly damaging Het
Itih3 T C 14: 30,630,665 (GRCm39) D882G probably damaging Het
Kmt5c G T 7: 4,745,252 (GRCm39) R81L possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Pcx A G 19: 4,652,058 (GRCm39) D101G possibly damaging Het
Prkch T C 12: 73,632,163 (GRCm39) V76A probably damaging Het
Skic3 A G 13: 76,279,533 (GRCm39) Y655C probably damaging Het
Thsd1 A G 8: 22,749,384 (GRCm39) K691E possibly damaging Het
Tmprss11e G A 5: 86,863,477 (GRCm39) T196I probably damaging Het
Trappc13 A G 13: 104,286,624 (GRCm39) V211A probably damaging Het
Vav1 C A 17: 57,610,849 (GRCm39) L472I probably benign Het
Wdr25 G A 12: 108,992,465 (GRCm39) E459K probably damaging Het
Zdbf2 A T 1: 63,342,786 (GRCm39) E388D possibly damaging Het
Zfp663 T C 2: 165,195,890 (GRCm39) K110E probably benign Het
Zfp78 C A 7: 6,381,618 (GRCm39) H223N probably damaging Het
Other mutations in Nr1i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Nr1i2 APN 16 38,086,333 (GRCm39) missense probably benign 0.34
IGL02451:Nr1i2 APN 16 38,069,654 (GRCm39) missense probably benign 0.18
IGL02614:Nr1i2 APN 16 38,074,118 (GRCm39) missense probably damaging 0.97
R0142:Nr1i2 UTSW 16 38,073,368 (GRCm39) missense probably benign
R1402:Nr1i2 UTSW 16 38,073,245 (GRCm39) missense probably damaging 1.00
R1836:Nr1i2 UTSW 16 38,069,644 (GRCm39) missense probably damaging 1.00
R2035:Nr1i2 UTSW 16 38,071,488 (GRCm39) critical splice donor site probably null
R3623:Nr1i2 UTSW 16 38,086,269 (GRCm39) splice site probably benign
R3834:Nr1i2 UTSW 16 38,074,291 (GRCm39) critical splice acceptor site probably null
R6236:Nr1i2 UTSW 16 38,086,300 (GRCm39) missense probably damaging 1.00
R7387:Nr1i2 UTSW 16 38,086,442 (GRCm39) missense probably benign 0.34
R7837:Nr1i2 UTSW 16 38,074,146 (GRCm39) missense probably benign 0.00
R8152:Nr1i2 UTSW 16 38,073,326 (GRCm39) missense probably damaging 1.00
R8939:Nr1i2 UTSW 16 38,086,382 (GRCm39) missense probably benign 0.00
R9668:Nr1i2 UTSW 16 38,071,573 (GRCm39) missense possibly damaging 0.73
Z1177:Nr1i2 UTSW 16 38,074,277 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGATCCTCCAGTAGCAATGGTCCC -3'
(R):5'- TTCCACAGTGGCTGTGAGCTTC -3'

Sequencing Primer
(F):5'- TAGCAATGGTCCCCCAGG -3'
(R):5'- TGAGCTTCCAGAGTTTCTGC -3'
Posted On 2017-12-01