Incidental Mutation 'IGL01739:Nr1i2'
ID 105788
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01739
Quality Score
Status
Chromosome 16
Chromosomal Location 38068711-38115211 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38086333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 44 (K44R)
Ref Sequence ENSEMBL: ENSMUSP00000023504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023504]
AlphaFold O54915
Predicted Effect probably benign
Transcript: ENSMUST00000023504
AA Change: K44R

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000023504
Gene: ENSMUSG00000022809
AA Change: K44R

DomainStartEndE-ValueType
ZnF_C4 35 107 6.32e-33 SMART
HOLI 242 401 4.61e-35 SMART
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 43,906,210 (GRCm39) Y88* probably null Het
Aftph T C 11: 20,676,994 (GRCm39) D205G probably damaging Het
Arhgap31 T C 16: 38,423,793 (GRCm39) I758V probably benign Het
Atg9b A G 5: 24,591,513 (GRCm39) probably null Het
Auts2 T C 5: 131,469,056 (GRCm39) T754A probably benign Het
Birc6 A G 17: 74,966,216 (GRCm39) M4048V probably benign Het
Cacna1s T C 1: 136,024,870 (GRCm39) probably null Het
Cmpk1 C T 4: 114,822,121 (GRCm39) A143T probably benign Het
Cstf2t C A 19: 31,060,536 (GRCm39) P24Q probably damaging Het
Cwc22 A G 2: 77,757,640 (GRCm39) S163P probably damaging Het
Dnaaf11 T A 15: 66,321,326 (GRCm39) M272L probably benign Het
Faf1 T A 4: 109,534,278 (GRCm39) probably benign Het
Focad T A 4: 88,289,043 (GRCm39) I1279N unknown Het
Gp5 T C 16: 30,127,459 (GRCm39) D405G possibly damaging Het
Guf1 C A 5: 69,718,501 (GRCm39) N213K probably damaging Het
Hacd4 T C 4: 88,341,285 (GRCm39) T145A probably damaging Het
Itga11 T C 9: 62,681,399 (GRCm39) M1005T probably benign Het
Mast4 T A 13: 102,910,781 (GRCm39) T621S probably damaging Het
Mme T C 3: 63,247,534 (GRCm39) M273T possibly damaging Het
Mos A G 4: 3,871,816 (GRCm39) probably benign Het
Msln C T 17: 25,969,004 (GRCm39) probably null Het
Mtg1 A T 7: 139,730,149 (GRCm39) Q315L probably benign Het
Myh1 A G 11: 67,105,354 (GRCm39) E1048G probably damaging Het
Ndufa9 C T 6: 126,821,777 (GRCm39) G66D probably damaging Het
Nup155 T A 15: 8,165,272 (GRCm39) M636K probably benign Het
Or12d12 A T 17: 37,610,673 (GRCm39) F213L probably benign Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Plekha6 T C 1: 133,187,869 (GRCm39) V130A probably benign Het
Prag1 A G 8: 36,569,834 (GRCm39) N139S probably benign Het
Rbpj-ps3 T C 6: 46,507,694 (GRCm39) T19A probably benign Het
Scai A G 2: 38,984,803 (GRCm39) probably benign Het
Slc12a7 A G 13: 73,947,733 (GRCm39) T617A probably benign Het
Slc15a2 T C 16: 36,576,592 (GRCm39) M481V probably benign Het
Snx5 A G 2: 144,112,325 (GRCm39) L8P probably benign Het
Spg11 C T 2: 121,945,152 (GRCm39) A123T probably damaging Het
Supt6 T A 11: 78,113,013 (GRCm39) I977F probably damaging Het
Tjp3 T C 10: 81,114,490 (GRCm39) D442G probably benign Het
Ttc21b A T 2: 66,068,200 (GRCm39) N275K probably benign Het
Vmn2r50 A G 7: 9,771,364 (GRCm39) F779S probably damaging Het
Xirp2 A T 2: 67,345,482 (GRCm39) R2574S probably benign Het
Zbp1 T C 2: 173,054,038 (GRCm39) E161G possibly damaging Het
Other mutations in Nr1i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-01-21