Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01582:Nr1i3'

91380

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01582

Quality Score

Status

Chromosome

Chromosomal Location

171041503-171046414 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 171042541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 56 (I56F)

Ref Sequence

ENSEMBL: ENSMUSP00000106960 (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

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	302	7.2e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000005820
AA Change: I56F

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000005820
Gene: ENSMUSG00000005677
AA Change: I56F

Domain	Start	End	E-Value	Type
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: I56F

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074915
Gene: ENSMUSG00000005677
AA Change: I56F

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	302	3.4e-68	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111328
AA Change: I56F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106960
Gene: ENSMUSG00000005677
AA Change: I56F

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000133075

SMART Domains

Protein: ENSMUSP00000137852
Gene: ENSMUSG00000005677

Domain	Start	End	E-Value	Type
ZnF_C4	18	58	1.68e-3	SMART
low complexity region	80	93	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152865

Predicted Effect

probably benign
Transcript: ENSMUST00000155126

SMART Domains

Protein: ENSMUSP00000137683
Gene: ENSMUSG00000005677

Domain	Start	End	E-Value	Type
HOLI	36	196	5.55e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143405

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 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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurkb	G	A	11: 68,939,605 (GRCm39)	V201I	probably damaging	Het
Csmd2	G	T	4: 128,457,098 (GRCm39)	E212*	probably null	Het
Dsg1a	G	T	18: 20,461,905 (GRCm39)	K335N	probably null	Het
Epn2	A	G	11: 61,412,695 (GRCm39)	S430P	probably benign	Het
Ezh2	A	T	6: 47,532,989 (GRCm39)	Y144*	probably null	Het
Fcgbp	G	T	7: 27,793,067 (GRCm39)	D1024Y	probably benign	Het
Gramd2b	A	G	18: 56,618,488 (GRCm39)	E232G	probably damaging	Het
Inf2	A	G	12: 112,576,993 (GRCm39)	K989R	unknown	Het
Lrpprc	G	A	17: 85,061,971 (GRCm39)	A577V	probably null	Het
Mansc1	T	A	6: 134,598,836 (GRCm39)	N27I	possibly damaging	Het
Ntpcr	T	C	8: 126,471,981 (GRCm39)	S64P	probably benign	Het
Or52e19b	A	T	7: 103,032,806 (GRCm39)	Y134*	probably null	Het
Ppwd1	A	G	13: 104,350,212 (GRCm39)	I391T	probably benign	Het
Serpinb3d	A	G	1: 107,007,396 (GRCm39)	F197L	probably damaging	Het
Siglecf	A	G	7: 43,008,145 (GRCm39)	N553D	possibly damaging	Het
Slc2a2	A	G	3: 28,762,637 (GRCm39)	D60G	probably benign	Het
Speer1j	A	G	5: 11,555,240 (GRCm39)	T70A	probably benign	Het
Spsb4	T	G	9: 96,878,143 (GRCm39)	D60A	probably damaging	Het
Tnnt1	T	C	7: 4,512,982 (GRCm39)	E100G	probably damaging	Het
Zmiz1	T	C	14: 25,658,654 (GRCm39)	M938T	probably benign	Het

Other mutations in Nr1i3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-09