Mutagenetix > Incidental Mutation

Incidental Mutation 'R3613:Nr1i3'

269278

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 #

R3613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171041503-171046414 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 171042564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 63 (C63*)

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 null
Transcript: ENSMUST00000005820
AA Change: C63*

SMART Domains

Protein: ENSMUSP00000005820
Gene: ENSMUSG00000005677
AA Change: C63*

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 null
Transcript: ENSMUST00000075469
AA Change: C63*

SMART Domains

Protein: ENSMUSP00000074915
Gene: ENSMUSG00000005677
AA Change: C63*

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

probably null
Transcript: ENSMUST00000111328
AA Change: C63*

SMART Domains

Protein: ENSMUSP00000106960
Gene: ENSMUSG00000005677
AA Change: C63*

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: ENSMUST00000149404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137298

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	C	T	14: 118,864,863 (GRCm39)		probably null	Het
Ccdc110	T	A	8: 46,395,843 (GRCm39)	M578K	possibly damaging	Het
Ctsh	A	C	9: 89,957,763 (GRCm39)	M281L	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Hinfp	T	C	9: 44,209,041 (GRCm39)	H359R	probably damaging	Het
Hps5	A	G	7: 46,426,298 (GRCm39)		probably null	Het
Lsamp	T	C	16: 41,775,686 (GRCm39)	V179A	probably benign	Het
Or6c5c	A	T	10: 129,298,937 (GRCm39)	T131S	probably benign	Het
Pdk2	T	C	11: 94,918,072 (GRCm39)	E387G	probably benign	Het
Pelp1	T	C	11: 70,286,261 (GRCm39)	N572S	probably benign	Het
Rdh16f2	A	T	10: 127,710,808 (GRCm39)	I142F	probably benign	Het
Sdk1	A	T	5: 142,105,441 (GRCm39)	H1515L	probably damaging	Het
Sema5b	C	T	16: 35,480,520 (GRCm39)	T729I	probably benign	Het
Tgfbi	G	A	13: 56,773,539 (GRCm39)	R179Q	probably damaging	Het
Vmn1r27	A	T	6: 58,192,787 (GRCm39)	N72K	probably damaging	Het
Vps13a	G	A	19: 16,662,766 (GRCm39)	T1573M	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het

Other mutations in Nr1i3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CGCACAGCTCAGATGAGTCT -3'
(R):5'- GAGGTGACAGGTTGTATGTACTTA -3'

Sequencing Primer
(F):5'- AGTCTGTTGTTAAATCGATCCGTC -3'
(R):5'- CACTTGATCTTGCAGAGAACCTGG -3'

Posted On

2015-02-19