Incidental Mutation 'R0049:Nr1i3'
ID 16203
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
MMRRC Submission 038343-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0049 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 171041503-171046414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 171041982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 22 (V22E)
Ref Sequence ENSEMBL: ENSMUSP00000137852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005817] [ENSMUST00000005820] [ENSMUST00000075469] [ENSMUST00000111326] [ENSMUST00000111327] [ENSMUST00000111328] [ENSMUST00000133075] [ENSMUST00000155126] [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: V22E

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000005820
Gene: ENSMUSG00000005677
AA Change: V22E

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: V22E

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074915
Gene: ENSMUSG00000005677
AA Change: V22E

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 damaging
Transcript: ENSMUST00000111328
AA Change: V22E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106960
Gene: ENSMUSG00000005677
AA Change: V22E

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 probably damaging
Transcript: ENSMUST00000133075
AA Change: V22E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137852
Gene: ENSMUSG00000005677
AA Change: V22E

DomainStartEndE-ValueType
ZnF_C4 18 58 1.68e-3 SMART
low complexity region 80 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137298
Predicted Effect probably benign
Transcript: ENSMUST00000155126
SMART Domains Protein: ENSMUSP00000137683
Gene: ENSMUSG00000005677

DomainStartEndE-ValueType
HOLI 36 196 5.55e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143405
Meta Mutation Damage Score 0.2100 question?
Coding Region Coverage
  • 1x: 90.0%
  • 3x: 87.7%
  • 10x: 82.4%
  • 20x: 74.6%
Validation Efficiency 89% (108/122)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,267 (GRCm39) H9L possibly damaging Het
Aars1 T A 8: 111,779,083 (GRCm39) I739K possibly damaging Het
Acod1 T A 14: 103,292,643 (GRCm39) I389K possibly damaging Het
Akap1 C A 11: 88,730,450 (GRCm39) probably null Het
Anxa7 T C 14: 20,512,678 (GRCm39) D285G probably damaging Het
Arhgap1 T C 2: 91,500,514 (GRCm39) Y308H probably damaging Het
Arhgef11 T A 3: 87,636,500 (GRCm39) probably null Het
Atosb A T 4: 43,036,441 (GRCm39) S97T probably benign Het
Atp6v0a4 G A 6: 38,059,016 (GRCm39) R256C probably damaging Het
Camsap3 C A 8: 3,648,772 (GRCm39) S163R probably benign Het
Ccdc110 A T 8: 46,395,663 (GRCm39) E518V probably damaging Het
Ccdc180 G A 4: 45,930,119 (GRCm39) probably null Het
Ccnt1 T C 15: 98,462,960 (GRCm39) M71V probably benign Het
Celsr2 T A 3: 108,304,570 (GRCm39) Y2263F probably benign Het
Cfap69 T C 5: 5,663,734 (GRCm39) T498A probably benign Het
Clstn3 T A 6: 124,436,812 (GRCm39) I132F possibly damaging Het
Cnot4 A G 6: 35,028,212 (GRCm39) V468A probably benign Het
Crmp1 T G 5: 37,422,617 (GRCm39) D141E possibly damaging Het
Cryz C A 3: 154,317,189 (GRCm39) A136D probably damaging Het
Dcst2 T C 3: 89,278,913 (GRCm39) V550A probably benign Het
Dph6 A G 2: 114,353,525 (GRCm39) V221A probably benign Het
Ecm2 A T 13: 49,677,922 (GRCm39) K403* probably null Het
Eif3d T C 15: 77,843,924 (GRCm39) N474S probably benign Het
F12 T C 13: 55,574,130 (GRCm39) D34G probably benign Het
Fam228b A T 12: 4,798,117 (GRCm39) F200Y probably damaging Het
Fgl2 T A 5: 21,580,661 (GRCm39) D334E possibly damaging Het
Fras1 T A 5: 96,924,481 (GRCm39) F3641I probably benign Het
Gabrb2 T G 11: 42,484,674 (GRCm39) Y244D probably damaging Het
Gcc1 A T 6: 28,421,268 (GRCm39) D16E probably benign Het
Gm10648 T C 7: 28,561,202 (GRCm39) probably benign Het
Gorasp2 T C 2: 70,521,067 (GRCm39) S346P possibly damaging Het
Htt A C 5: 35,066,006 (GRCm39) K3060N probably damaging Het
Ibsp C T 5: 104,450,024 (GRCm39) L8F probably damaging Het
Kif27 A T 13: 58,451,378 (GRCm39) D983E probably damaging Het
Kif3a T A 11: 53,481,560 (GRCm39) probably benign Het
Kif3c A C 12: 3,417,090 (GRCm39) K370N possibly damaging Het
Loxhd1 T C 18: 77,468,256 (GRCm39) probably benign Het
Maz A T 7: 126,623,758 (GRCm39) D74E probably damaging Het
Med21 T C 6: 146,551,732 (GRCm39) S128P probably damaging Het
Mms19 A C 19: 41,943,607 (GRCm39) M374R probably damaging Het
Mrpl3 T C 9: 104,932,872 (GRCm39) V111A probably benign Het
Mtfr2 T A 10: 20,224,158 (GRCm39) Y31N probably damaging Het
Neb A C 2: 52,060,479 (GRCm39) M2286R possibly damaging Het
Ngf A T 3: 102,427,661 (GRCm39) R137* probably null Het
Nxpe5 T C 5: 138,249,566 (GRCm39) V452A probably damaging Het
Or11g27 A T 14: 50,771,151 (GRCm39) K94M probably damaging Het
Pax3 A G 1: 78,080,141 (GRCm39) L415P probably damaging Het
Pcnt G T 10: 76,205,655 (GRCm39) probably benign Het
Peg3 G T 7: 6,714,672 (GRCm39) D183E possibly damaging Het
Pglyrp1 G T 7: 18,623,313 (GRCm39) G120V probably damaging Het
Pomt1 T A 2: 32,142,023 (GRCm39) H584Q possibly damaging Het
Prkcq G A 2: 11,288,643 (GRCm39) G532E probably benign Het
Pwp1 A G 10: 85,721,480 (GRCm39) T361A possibly damaging Het
Rab4a A T 8: 124,554,081 (GRCm39) H5L probably damaging Het
Ramp1 T C 1: 91,124,592 (GRCm39) I51T possibly damaging Het
Raph1 G T 1: 60,565,058 (GRCm39) T143K probably benign Het
Rhpn1 A G 15: 75,581,088 (GRCm39) E110G possibly damaging Het
Rnf168 A T 16: 32,117,287 (GRCm39) T283S possibly damaging Het
Ros1 T A 10: 51,977,857 (GRCm39) Y1463F possibly damaging Het
Rtn4ip1 A G 10: 43,797,430 (GRCm39) Q223R probably null Het
Rtp4 G T 16: 23,431,679 (GRCm39) M70I probably benign Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Sgo1 C T 17: 53,986,691 (GRCm39) D167N probably damaging Het
Slco1a8 T C 6: 141,936,147 (GRCm39) T313A probably benign Het
St6gal1 G T 16: 23,139,891 (GRCm39) A21S probably damaging Het
Stard9 C A 2: 120,530,300 (GRCm39) L2186I probably damaging Het
Sun2 T A 15: 79,611,810 (GRCm39) probably benign Het
Taf4 G A 2: 179,565,884 (GRCm39) T849M probably damaging Het
Taok2 G A 7: 126,465,583 (GRCm39) H404Y possibly damaging Het
Tdrd7 A G 4: 45,987,582 (GRCm39) I72V probably damaging Het
Trav1 T A 14: 52,666,155 (GRCm39) S52T probably damaging Het
Trim30a C T 7: 104,078,559 (GRCm39) probably null Het
Tro T C X: 149,437,565 (GRCm39) N364S possibly damaging Het
Tshz3 A G 7: 36,469,534 (GRCm39) T508A probably damaging Het
Ttc21b A G 2: 66,053,908 (GRCm39) L757P probably damaging Het
Vmn1r218 C T 13: 23,321,225 (GRCm39) Q111* probably null Het
Vmn2r75 G A 7: 85,797,309 (GRCm39) Q835* probably null Het
Xcr1 T A 9: 123,684,940 (GRCm39) D274V possibly damaging Het
Ypel5 C T 17: 73,153,332 (GRCm39) T12I 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
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
R5072:Nr1i3 UTSW 1 171,044,382 (GRCm39) missense probably benign 0.11
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
Posted On 2013-01-08