Incidental Mutation 'R5072:Nr1i3'
ID 388833
Institutional Source Beutler Lab
Gene Symbol Nr1i3
Ensembl Gene ENSMUSG00000005677
Gene Name nuclear receptor subfamily 1, group I, member 3
Synonyms mCAR, ESTM32, CAR, CAR1, MB67, Care2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5072 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171041503-171046414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 171044382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 169 (T169I)
Ref Sequence ENSEMBL: ENSMUSP00000106960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005817] [ENSMUST00000005820] [ENSMUST00000075469] [ENSMUST00000111326] [ENSMUST00000111327] [ENSMUST00000111328] [ENSMUST00000155126] [ENSMUST00000133075] [ENSMUST00000147246] [ENSMUST00000138184] [ENSMUST00000143405]
AlphaFold O35627
Predicted Effect probably benign
Transcript: ENSMUST00000005817
SMART Domains Protein: ENSMUSP00000005817
Gene: ENSMUSG00000005674

DomainStartEndE-ValueType
Pfam:Porin_3 26 302 7.2e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000005820
AA Change: T169I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000005820
Gene: ENSMUSG00000005677
AA Change: T169I

DomainStartEndE-ValueType
ZnF_C4 18 89 6.98e-35 SMART
low complexity region 94 110 N/A INTRINSIC
HOLI 173 333 5.55e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075469
AA Change: T169I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074915
Gene: ENSMUSG00000005677
AA Change: T169I

DomainStartEndE-ValueType
ZnF_C4 18 89 6.98e-35 SMART
low complexity region 94 110 N/A INTRINSIC
HOLI 173 285 8.9e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111326
SMART Domains Protein: ENSMUSP00000106958
Gene: ENSMUSG00000005674

DomainStartEndE-ValueType
Pfam:Porin_3 26 95 9e-16 PFAM
Pfam:Porin_3 85 268 1.4e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111327
SMART Domains Protein: ENSMUSP00000106959
Gene: ENSMUSG00000005674

DomainStartEndE-ValueType
Pfam:Porin_3 26 302 3.4e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111328
AA Change: T169I

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106960
Gene: ENSMUSG00000005677
AA Change: T169I

DomainStartEndE-ValueType
ZnF_C4 18 89 6.98e-35 SMART
low complexity region 94 110 N/A INTRINSIC
HOLI 173 332 5.55e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152865
Predicted Effect probably benign
Transcript: ENSMUST00000155126
AA Change: T32I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137683
Gene: ENSMUSG00000005677
AA Change: T32I

DomainStartEndE-ValueType
HOLI 36 196 5.55e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154106
Predicted Effect probably benign
Transcript: ENSMUST00000133075
SMART Domains Protein: ENSMUSP00000137852
Gene: ENSMUSG00000005677

DomainStartEndE-ValueType
ZnF_C4 18 58 1.68e-3 SMART
low complexity region 80 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147246
SMART Domains Protein: ENSMUSP00000119006
Gene: ENSMUSG00000005674

DomainStartEndE-ValueType
Pfam:Porin_3 26 91 5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138184
SMART Domains Protein: ENSMUSP00000115877
Gene: ENSMUSG00000005674

DomainStartEndE-ValueType
Pfam:Porin_3 26 119 1.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143405
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to TCPOBOP. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,414 (GRCm39) H104Q probably benign Het
4933405L10Rik A G 8: 106,436,201 (GRCm39) T158A possibly damaging Het
A1cf T C 19: 31,895,385 (GRCm39) M156T probably benign Het
Abca15 A G 7: 120,006,198 (GRCm39) Y1620C probably damaging Het
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Ablim1 A G 19: 57,062,285 (GRCm39) probably null Het
Acox2 A T 14: 8,241,374 (GRCm38) Y579* probably null Het
Adnp A T 2: 168,024,921 (GRCm39) S791R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Alx3 G T 3: 107,512,109 (GRCm39) S249I possibly damaging Het
Apob A G 12: 8,058,714 (GRCm39) T2366A probably benign Het
Apool C T X: 111,259,540 (GRCm39) Q60* probably null Het
Arid4a T C 12: 71,091,853 (GRCm39) V213A probably benign Het
Atp7a A G X: 105,153,374 (GRCm39) D1092G probably benign Het
Bpifa5 A T 2: 154,007,892 (GRCm39) E178V probably damaging Het
Car4 G A 11: 84,854,193 (GRCm39) E47K probably benign Het
Catsper1 T C 19: 5,390,074 (GRCm39) probably null Het
Ccdc63 T A 5: 122,259,118 (GRCm39) Q260L probably benign Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Ces5a C T 8: 94,261,296 (GRCm39) V44M probably damaging Het
Cltc A G 11: 86,608,794 (GRCm39) I741T possibly damaging Het
Cnst C A 1: 179,450,451 (GRCm39) D638E possibly damaging Het
Col13a1 A G 10: 61,709,797 (GRCm39) silent Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Ddx20 A G 3: 105,590,191 (GRCm39) probably null Het
Dnaja3 A T 16: 4,514,289 (GRCm39) T274S probably damaging Het
Dot1l A G 10: 80,620,480 (GRCm39) D514G possibly damaging Het
Dysf A T 6: 84,114,254 (GRCm39) K1226M probably damaging Het
Epha4 T C 1: 77,421,639 (GRCm39) Y281C probably damaging Het
Fbxo42 T C 4: 140,926,256 (GRCm39) W313R probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gprasp2 C T X: 134,743,346 (GRCm39) T235I possibly damaging Het
Gtf2ird1 G T 5: 134,419,787 (GRCm39) probably null Het
H2ab3 T C X: 119,222,543 (GRCm39) T84A probably damaging Het
H2ac20 C T 3: 96,128,099 (GRCm39) probably benign Het
Hal A T 10: 93,349,904 (GRCm39) I555F probably damaging Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Homo
Hspg2 T C 4: 137,267,541 (GRCm39) S2050P probably damaging Het
Irgc T C 7: 24,132,196 (GRCm39) D207G probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Kiss1r C A 10: 79,754,596 (GRCm39) S30* probably null Het
Krtap1-4 C G 11: 99,474,442 (GRCm39) probably benign Het
Lrrfip2 A G 9: 111,028,872 (GRCm39) E365G probably damaging Het
Ly75 A G 2: 60,206,307 (GRCm39) Y121H probably damaging Het
Man2a1 G A 17: 64,966,074 (GRCm39) probably null Het
Mllt10 C A 2: 18,114,685 (GRCm39) H52N possibly damaging Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Myo1a T C 10: 127,543,288 (GRCm39) probably null Het
Myo3b C A 2: 69,925,593 (GRCm39) T20K possibly damaging Het
Nipsnap2 A T 5: 129,816,644 (GRCm39) K62N probably damaging Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Oprm1 A G 10: 6,782,550 (GRCm39) S398G probably benign Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or51k1 T A 7: 103,661,325 (GRCm39) R195W probably damaging Het
Or6k2 A T 1: 173,986,527 (GRCm39) I63F probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Pebp1 G T 5: 117,421,475 (GRCm39) D156E probably benign Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Pilra A G 5: 137,833,674 (GRCm39) F131L probably damaging Het
Pitrm1 T C 13: 6,603,226 (GRCm39) F91S probably damaging Het
Ppl A T 16: 4,906,742 (GRCm39) S1184R probably benign Het
Prmt2 C T 10: 76,058,390 (GRCm39) V140I probably damaging Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Pygb C T 2: 150,643,498 (GRCm39) T95M probably damaging Het
Rassf9 A G 10: 102,381,766 (GRCm39) K383E probably damaging Het
Rfk T A 19: 17,375,963 (GRCm39) F86I possibly damaging Het
Rims2 T C 15: 39,325,986 (GRCm39) F773L probably benign Het
Sdcbp A G 4: 6,393,019 (GRCm39) I218V probably benign Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Snrpd3 G T 10: 75,355,227 (GRCm39) C20F possibly damaging Het
Spen A T 4: 141,249,613 (GRCm39) S58R unknown Het
St3gal2 T C 8: 111,684,350 (GRCm39) C3R possibly damaging Het
Stab2 A T 10: 86,699,422 (GRCm39) I481N probably benign Het
Stat5b T C 11: 100,699,361 (GRCm39) probably null Het
Tmco3 G T 8: 13,342,860 (GRCm39) E199* probably null Het
Tmem26 A G 10: 68,611,178 (GRCm39) T216A probably damaging Het
Ttn A G 2: 76,550,822 (GRCm39) probably null Het
Ttn A T 2: 76,602,709 (GRCm39) probably null Het
Ttn C T 2: 76,576,746 (GRCm39) V24716I probably damaging Het
Uba5 T C 9: 103,931,626 (GRCm39) E202G probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Utrn A T 10: 12,259,948 (GRCm39) probably null Het
Vmn2r111 C A 17: 22,767,022 (GRCm39) C825F probably damaging Het
Vmn2r113 T A 17: 23,177,329 (GRCm39) C704* probably null Het
Vmn2r56 A G 7: 12,427,983 (GRCm39) I761T probably benign Het
Vmn2r98 C T 17: 19,286,306 (GRCm39) T268I probably benign Het
Zfp263 A G 16: 3,564,704 (GRCm39) R240G possibly damaging Het
Zfp473 T A 7: 44,381,943 (GRCm39) I797F probably damaging Het
Zfp68 A T 5: 138,604,579 (GRCm39) D543E probably benign Het
Other mutations in Nr1i3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01582:Nr1i3 APN 1 171,042,541 (GRCm39) missense possibly damaging 0.79
IGL02401:Nr1i3 APN 1 171,043,942 (GRCm39) splice site probably benign
IGL02964:Nr1i3 APN 1 171,041,964 (GRCm39) missense probably benign 0.00
election UTSW 1 171,043,951 (GRCm39) missense probably damaging 0.99
R0023:Nr1i3 UTSW 1 171,044,900 (GRCm39) missense probably damaging 0.99
R0049:Nr1i3 UTSW 1 171,041,982 (GRCm39) missense probably damaging 1.00
R0049:Nr1i3 UTSW 1 171,041,982 (GRCm39) missense probably damaging 1.00
R0504:Nr1i3 UTSW 1 171,044,805 (GRCm39) splice site probably benign
R1437:Nr1i3 UTSW 1 171,044,710 (GRCm39) frame shift probably null
R1754:Nr1i3 UTSW 1 171,044,963 (GRCm39) missense probably damaging 1.00
R1893:Nr1i3 UTSW 1 171,044,792 (GRCm39) critical splice donor site probably null
R2116:Nr1i3 UTSW 1 171,046,163 (GRCm39) missense probably damaging 1.00
R3613:Nr1i3 UTSW 1 171,042,564 (GRCm39) nonsense probably null
R3787:Nr1i3 UTSW 1 171,041,994 (GRCm39) missense probably damaging 1.00
R4627:Nr1i3 UTSW 1 171,044,014 (GRCm39) missense probably benign 0.00
R4772:Nr1i3 UTSW 1 171,044,719 (GRCm39) missense probably damaging 1.00
R4792:Nr1i3 UTSW 1 171,046,164 (GRCm39) missense probably damaging 0.99
R4880:Nr1i3 UTSW 1 171,043,951 (GRCm39) missense probably damaging 0.99
R5349:Nr1i3 UTSW 1 171,042,641 (GRCm39) missense possibly damaging 0.94
R5527:Nr1i3 UTSW 1 171,041,921 (GRCm39) missense possibly damaging 0.91
R6768:Nr1i3 UTSW 1 171,044,966 (GRCm39) missense probably damaging 1.00
R6824:Nr1i3 UTSW 1 171,042,542 (GRCm39) missense probably benign 0.00
R7011:Nr1i3 UTSW 1 171,041,927 (GRCm39) missense probably benign 0.02
R7092:Nr1i3 UTSW 1 171,041,747 (GRCm39) splice site probably null
R7740:Nr1i3 UTSW 1 171,044,396 (GRCm39) missense probably benign 0.00
R8200:Nr1i3 UTSW 1 171,045,266 (GRCm39) missense probably benign 0.44
R9013:Nr1i3 UTSW 1 171,042,026 (GRCm39) missense probably damaging 1.00
R9185:Nr1i3 UTSW 1 171,043,955 (GRCm39) missense possibly damaging 0.72
R9801:Nr1i3 UTSW 1 171,045,252 (GRCm39) missense probably damaging 1.00
X0027:Nr1i3 UTSW 1 171,041,946 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCCACAGAAGAAGGCTATGC -3'
(R):5'- GTAAGACCCTAGCACTCAGAAG -3'

Sequencing Primer
(F):5'- CTATGCCCTGATGGAGAACAGATC -3'
(R):5'- GGCTAAAGGATGTCATACCAGTC -3'
Posted On 2016-06-06