Incidental Mutation 'IGL02451:Nr1i2'
ID293663
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 #IGL02451
Quality Score
Status
Chromosome16
Chromosomal Location38248323-38294824 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38249292 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 417 (F417L)
Ref Sequence ENSEMBL: ENSMUSP00000023504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023504] [ENSMUST00000023507]
Predicted Effect probably benign
Transcript: ENSMUST00000023504
AA Change: F417L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023504
Gene: ENSMUSG00000022809
AA Change: F417L

DomainStartEndE-ValueType
ZnF_C4 35 107 6.32e-33 SMART
HOLI 242 401 4.61e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000023507
SMART Domains Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812

DomainStartEndE-ValueType
S_TKc 56 340 1.72e-86 SMART
low complexity region 386 402 N/A INTRINSIC
low complexity region 409 419 N/A INTRINSIC
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,563,547 T126P probably damaging Het
Asic2 T C 11: 80,891,737 probably benign Het
B430305J03Rik A G 3: 61,364,141 probably benign Het
Bbs7 A G 3: 36,610,592 F47L possibly damaging Het
BC017158 A G 7: 128,276,410 L257P probably damaging Het
Bcl2l14 G T 6: 134,423,841 G75V probably benign Het
Btnl4 T C 17: 34,475,927 H4R probably benign Het
Champ1 C A 8: 13,878,739 P299Q probably damaging Het
Cldnd2 A G 7: 43,441,658 K5E probably benign Het
Ctr9 T A 7: 111,043,424 L401* probably null Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Enpp4 A T 17: 44,101,424 L298H probably damaging Het
Git1 T C 11: 77,500,687 C222R possibly damaging Het
Gpam T C 19: 55,088,203 T189A probably damaging Het
Hgfac T G 5: 35,043,814 probably null Het
Hivep3 T A 4: 120,133,965 S2221T probably damaging Het
Ifi47 T C 11: 49,095,777 Y124H probably damaging Het
Il1a T C 2: 129,306,655 E45G probably damaging Het
Itga11 T A 9: 62,735,353 I186N probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Mapk13 A G 17: 28,776,413 T203A probably damaging Het
Mrpl37 T A 4: 107,066,642 I52F probably damaging Het
Olfr1129 T A 2: 87,575,232 S49R probably benign Het
Olfr811 G A 10: 129,801,833 Q231* probably null Het
Osbpl1a T C 18: 12,914,493 probably benign Het
Parg C T 14: 32,242,229 T112M probably damaging Het
Pifo T A 3: 106,014,504 E34D probably benign Het
Pou6f1 T C 15: 100,579,940 T166A possibly damaging Het
Prtg A G 9: 72,856,999 I585V possibly damaging Het
Ptpru T G 4: 131,776,775 probably benign Het
Rab6a T C 7: 100,636,763 probably null Het
Rnf207 C T 4: 152,312,412 R425H probably benign Het
Skiv2l2 C T 13: 112,891,347 V660M probably damaging Het
Slc27a2 A G 2: 126,578,992 M468V probably benign Het
Slc30a1 A G 1: 191,907,329 H108R possibly damaging Het
Sned1 A G 1: 93,236,208 probably benign Het
Sptbn4 A T 7: 27,365,589 F2095Y probably null Het
Sspo A T 6: 48,460,303 probably benign Het
Tbx19 A G 1: 165,140,171 S336P probably benign Het
Tmem101 T A 11: 102,153,293 D256V probably damaging Het
Trbv20 T G 6: 41,188,276 L2V unknown Het
Trpc7 A G 13: 56,822,461 S382P probably damaging Het
Uhmk1 T C 1: 170,212,526 T91A possibly damaging Het
Vmn2r10 T A 5: 108,995,922 R721* probably null Het
Vmn2r94 T A 17: 18,258,191 Y98F possibly damaging Het
Zcchc11 C A 4: 108,529,276 Y1114* probably null Het
Zfp532 A G 18: 65,623,601 R202G probably damaging Het
Zfp827 T C 8: 79,060,972 S256P probably damaging Het
Zzef1 T C 11: 72,901,388 I2266T probably damaging Het
Other mutations in Nr1i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Nr1i2 APN 16 38265971 missense probably benign 0.34
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
Posted On2015-04-16