Incidental Mutation 'IGL01739:Nr1i2'
ID105788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr1i2
Ensembl Gene ENSMUSG00000022809
Gene Namenuclear receptor subfamily 1, group I, member 2
SynonymsPXR.1, mPXR, SXR, Pregnane X receptor, PXR.2, PXR
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01739
Quality Score
Status
Chromosome16
Chromosomal Location38248323-38294824 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38265971 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 44 (K44R)
Ref Sequence ENSEMBL: ENSMUSP00000023504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023504]
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: 44,256,786 Y88* probably null Het
Aftph T C 11: 20,726,994 D205G probably damaging Het
Arhgap31 T C 16: 38,603,431 I758V probably benign Het
Atg9b A G 5: 24,386,515 probably null Het
Auts2 T C 5: 131,440,218 T754A probably benign Het
Birc6 A G 17: 74,659,221 M4048V probably benign Het
Cacna1s T C 1: 136,097,132 probably null Het
Cmpk1 C T 4: 114,964,924 A143T probably benign Het
Cstf2t C A 19: 31,083,136 P24Q probably damaging Het
Cwc22 A G 2: 77,927,296 S163P probably damaging Het
Faf1 T A 4: 109,677,081 probably benign Het
Focad T A 4: 88,370,806 I1279N unknown Het
Gp5 T C 16: 30,308,641 D405G possibly damaging Het
Guf1 C A 5: 69,561,158 N213K probably damaging Het
Hacd4 T C 4: 88,423,048 T145A probably damaging Het
Itga11 T C 9: 62,774,117 M1005T probably benign Het
Lrrc6 T A 15: 66,449,477 M272L probably benign Het
Mast4 T A 13: 102,774,273 T621S probably damaging Het
Mme T C 3: 63,340,113 M273T possibly damaging Het
Mos A G 4: 3,871,816 probably benign Het
Msln C T 17: 25,750,030 probably null Het
Mtg1 A T 7: 140,150,236 Q315L probably benign Het
Myh1 A G 11: 67,214,528 E1048G probably damaging Het
Ndufa9 C T 6: 126,844,814 G66D probably damaging Het
Nup155 T A 15: 8,135,788 M636K probably benign Het
Olfr101 A T 17: 37,299,782 F213L probably benign Het
Olfr1446 T A 19: 12,890,149 T143S probably benign Het
Pde4b A T 4: 102,601,635 Q496L probably damaging Het
Plekha6 T C 1: 133,260,131 V130A probably benign Het
Prag1 A G 8: 36,102,680 N139S probably benign Het
Rbpj-ps3 T C 6: 46,530,760 T19A probably benign Het
Scai A G 2: 39,094,791 probably benign Het
Slc12a7 A G 13: 73,799,614 T617A probably benign Het
Slc15a2 T C 16: 36,756,230 M481V probably benign Het
Snx5 A G 2: 144,270,405 L8P probably benign Het
Spg11 C T 2: 122,114,671 A123T probably damaging Het
Supt6 T A 11: 78,222,187 I977F probably damaging Het
Tjp3 T C 10: 81,278,656 D442G probably benign Het
Ttc21b A T 2: 66,237,856 N275K probably benign Het
Vmn2r50 A G 7: 10,037,437 F779S probably damaging Het
Xirp2 A T 2: 67,515,138 R2574S probably benign Het
Zbp1 T C 2: 173,212,245 E161G possibly damaging Het
Other mutations in Nr1i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02451:Nr1i2 APN 16 38249292 missense probably benign 0.18
IGL02614:Nr1i2 APN 16 38253756 missense probably damaging 0.97
R0142:Nr1i2 UTSW 16 38253006 missense probably benign
R1402:Nr1i2 UTSW 16 38252883 missense probably damaging 1.00
R1402:Nr1i2 UTSW 16 38252883 missense probably damaging 1.00
R1836:Nr1i2 UTSW 16 38249282 missense probably damaging 1.00
R2035:Nr1i2 UTSW 16 38251126 critical splice donor site probably null
R3623:Nr1i2 UTSW 16 38265907 splice site probably benign
R3834:Nr1i2 UTSW 16 38253929 critical splice acceptor site probably null
R6236:Nr1i2 UTSW 16 38265938 missense probably damaging 1.00
R7387:Nr1i2 UTSW 16 38266080 missense probably benign 0.34
Posted On2014-01-21