Incidental Mutation 'R7837:Nr1i2'
ID 606074
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 045891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7837 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 38068711-38115211 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38074146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 156 (M156V)
Ref Sequence ENSEMBL: ENSMUSP00000023504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023504]
AlphaFold O54915
Predicted Effect probably benign
Transcript: ENSMUST00000023504
AA Change: M156V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023504
Gene: ENSMUSG00000022809
AA Change: M156V

DomainStartEndE-ValueType
ZnF_C4 35 107 6.32e-33 SMART
HOLI 242 401 4.61e-35 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,344,547 (GRCm39) S108P probably damaging Het
Acox3 A G 5: 35,768,830 (GRCm39) probably null Het
Adam22 T A 5: 8,199,284 (GRCm39) probably null Het
Adgrb3 T C 1: 25,167,915 (GRCm39) Y1007C probably damaging Het
Anapc4 T A 5: 53,016,550 (GRCm39) probably null Het
Aoc1 T A 6: 48,882,584 (GRCm39) Y153* probably null Het
Armc1 A T 3: 19,198,633 (GRCm39) I109N probably benign Het
Bcl2 A C 1: 106,471,086 (GRCm39) F207V possibly damaging Het
Btd C A 14: 31,388,784 (GRCm39) S168R possibly damaging Het
Cage1 A T 13: 38,206,381 (GRCm39) M488K not run Het
Cemip2 T A 19: 21,775,385 (GRCm39) D209E probably benign Het
Cenpj T C 14: 56,796,185 (GRCm39) N224S probably benign Het
Cln6 T C 9: 62,756,330 (GRCm39) V81A Het
Crispld1 T A 1: 17,798,954 (GRCm39) V25E probably benign Het
Dnah12 A G 14: 26,518,176 (GRCm39) T1808A probably benign Het
Dnm3 C T 1: 161,819,619 (GRCm39) R851H possibly damaging Het
Dtx3l T A 16: 35,751,896 (GRCm39) N675I probably damaging Het
Dusp28 A G 1: 92,835,405 (GRCm39) E163G probably benign Het
Ecd A T 14: 20,383,400 (GRCm39) F346L probably damaging Het
F5 G A 1: 164,014,363 (GRCm39) V545M probably damaging Het
Gm19410 A T 8: 36,276,134 (GRCm39) Y1597F possibly damaging Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gria2 A T 3: 80,618,095 (GRCm39) N313K probably benign Het
Igkv13-84 C T 6: 68,916,793 (GRCm39) S30F possibly damaging Het
Kcnh6 C A 11: 105,924,636 (GRCm39) H867N probably benign Het
Krt82 T C 15: 101,456,792 (GRCm39) Q196R possibly damaging Het
Mbd4 T C 6: 115,826,500 (GRCm39) N164D probably benign Het
Mrgpra1 A T 7: 46,985,076 (GRCm39) M201K possibly damaging Het
Msh6 G A 17: 88,292,094 (GRCm39) G283E probably damaging Het
Msr1 C T 8: 40,034,873 (GRCm39) C426Y probably damaging Het
Muc5ac A G 7: 141,369,700 (GRCm39) H3149R possibly damaging Het
Ogdhl T C 14: 32,068,415 (GRCm39) V884A possibly damaging Het
Or13a21 T C 7: 139,999,234 (GRCm39) I151V probably benign Het
Or4c102 A T 2: 88,422,723 (GRCm39) I192F possibly damaging Het
Or4k15b T A 14: 50,272,033 (GRCm39) T276S probably damaging Het
Or51ag1 A T 7: 103,156,052 (GRCm39) C34S possibly damaging Het
Pakap A G 4: 57,855,262 (GRCm39) D197G probably damaging Het
Pcnx4 C A 12: 72,602,892 (GRCm39) L385M probably damaging Het
Pgap4 A T 4: 49,586,262 (GRCm39) M302K probably damaging Het
Plscr4 T A 9: 92,366,976 (GRCm39) C197S probably damaging Het
Rin3 A G 12: 102,335,024 (GRCm39) T312A unknown Het
Septin7 T A 9: 25,199,531 (GRCm39) N143K possibly damaging Het
Sgk2 A G 2: 162,845,216 (GRCm39) K208E probably damaging Het
Slc4a5 A T 6: 83,238,539 (GRCm39) T236S probably benign Het
Sptbn1 A G 11: 30,088,832 (GRCm39) L810P probably damaging Het
Stard9 A G 2: 120,534,146 (GRCm39) S3468G probably benign Het
Tarbp1 T C 8: 127,201,300 (GRCm39) S169G probably benign Het
Tex56 A T 13: 35,128,359 (GRCm39) Q192L possibly damaging Het
Tssk2 T C 16: 17,716,615 (GRCm39) V6A possibly damaging Het
Ttll4 A T 1: 74,720,916 (GRCm39) probably null Het
Ubr4 C T 4: 139,120,462 (GRCm39) R296* probably null Het
Wscd2 G T 5: 113,710,394 (GRCm39) C306F probably damaging Het
Zbtb43 C T 2: 33,343,981 (GRCm39) G378R probably damaging Het
Zdhhc12 A T 2: 29,981,709 (GRCm39) V165E probably damaging Het
Zfp59 GAAA GAAAAA 7: 27,554,342 (GRCm39) probably null Het
Zfp943 A T 17: 22,211,346 (GRCm39) Y144F probably benign Het
Zkscan8 T A 13: 21,704,598 (GRCm39) N447I possibly 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
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
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'- TCAGCTGGGCAATCATCAAAAG -3'
(R):5'- ACATATGCCGAGTCCTCTTTG -3'

Sequencing Primer
(F):5'- AGATTTCCCATCCCAGAGTTTGAGG -3'
(R):5'- GAGTCCTCTTTGTTAACACGCAG -3'
Posted On 2019-12-20