Mutagenetix > Incidental Mutations

Incidental Mutation 'R4627:Nr1i3'

348826

Institutional Source

Beutler Lab

Gene Symbol

Nr1i3

Ensembl Gene

ENSMUSG00000005677

Gene Name

nuclear receptor subfamily 1, group I, member 3

Synonyms

Care2, CAR1, mCAR, CAR, ESTM32, MB67

MMRRC Submission

041892-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4627 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171213970-171220701 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 171216445 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 112 (A112E)

Ref Sequence

ENSEMBL: ENSMUSP00000074915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005817] [ENSMUST00000005820] [ENSMUST00000075469] [ENSMUST00000111326] [ENSMUST00000111327] [ENSMUST00000111328] [ENSMUST00000133075] [ENSMUST00000138184] [ENSMUST00000143405] [ENSMUST00000147246] [ENSMUST00000155126]

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: A112E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000005820
Gene: ENSMUSG00000005677
AA Change: A112E

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: A112E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000074915
Gene: ENSMUSG00000005677
AA Change: A112E

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 benign
Transcript: ENSMUST00000111328
AA Change: A112E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106960
Gene: ENSMUSG00000005677
AA Change: A112E

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

noncoding transcript
Transcript: ENSMUST00000130529

Predicted Effect

unknown
Transcript: ENSMUST00000133075
AA Change: S68R

SMART Domains

Protein: ENSMUSP00000137852
Gene: ENSMUSG00000005677
AA Change: S68R

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

probably benign
Transcript: ENSMUST00000138184

SMART Domains

Protein: ENSMUSP00000115877
Gene: ENSMUSG00000005674

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	119	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143405

Predicted Effect

probably benign
Transcript: ENSMUST00000147246

SMART Domains

Protein: ENSMUSP00000119006
Gene: ENSMUSG00000005674

Domain	Start	End	E-Value	Type
Pfam:Porin_3	26	91	5e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154106

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
Adam6a	A	T	12: 113,544,949	D314V	probably benign	Het
Adamts18	C	T	8: 113,773,168	W371*	probably null	Het
Adamtsl2	T	A	2: 27,093,585	L331Q	probably damaging	Het
Akr1c13	G	T	13: 4,197,870	V214F	probably damaging	Het
Aldoart1	T	C	4: 72,852,443	T43A	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ano7	T	C	1: 93,375,185	I15T	probably benign	Het
Aox3	A	T	1: 58,125,035	T155S	probably damaging	Het
Ap2a1	C	T	7: 44,904,419	V535M	probably damaging	Het
Apbb2	C	T	5: 66,400,076		probably null	Het
Astn1	C	A	1: 158,502,251	H225Q	possibly damaging	Het
Atm	A	G	9: 53,456,506	I2439T	possibly damaging	Het
Atp1b2	T	A	11: 69,601,334	I263F	probably damaging	Het
Ccdc184	A	T	15: 98,168,757	N148Y	probably benign	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,481,861		probably benign	Het
Cep192	C	G	18: 67,812,369	P180R	probably benign	Het
Cfap46	T	C	7: 139,657,281	Y571C	probably damaging	Het
Cfap46	A	T	7: 139,680,927	L85Q	probably damaging	Het
Chchd6	G	A	6: 89,384,660	L226F	probably damaging	Het
Cnot6l	A	G	5: 96,077,211	V541A	probably benign	Het
Cobl	T	C	11: 12,251,093	E1214G	probably damaging	Het
Cpsf2	G	A	12: 101,989,895	R319Q	probably benign	Het
Csdc2	T	C	15: 81,949,123	V107A	probably benign	Het
Csmd1	A	G	8: 16,697,917	W273R	probably benign	Het
Diexf	T	C	1: 193,107,695	T719A	probably benign	Het
Dnah2	T	A	11: 69,465,376	N2156I	probably damaging	Het
Dsp	A	G	13: 38,168,641	Y165C	probably benign	Het
Exoc1	T	C	5: 76,542,228	V205A	probably benign	Het
Fam98c	T	C	7: 29,155,268	T49A	possibly damaging	Het
Fbln2	G	T	6: 91,259,767	V755L	probably damaging	Het
Fhad1	A	T	4: 141,896,468	V1371D	possibly damaging	Het
Folh1	A	T	7: 86,773,252	M59K	probably benign	Het
Foxf2	A	T	13: 31,626,888	H270L	probably benign	Het
Gm14401	G	A	2: 177,086,316	R65H	probably benign	Het
Gpn1	C	A	5: 31,498,393	Y592*	probably null	Het
Hmcn1	T	G	1: 150,595,894	D4903A	probably benign	Het
Hnf1a	T	C	5: 114,955,871	R220G	probably damaging	Het
Hoxd10	G	A	2: 74,692,292	A105T	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kidins220	C	T	12: 25,057,042	T1498I	possibly damaging	Het
Klhl2	G	T	8: 64,758,191	Y274*	probably null	Het
Lmbrd1	A	G	1: 24,705,999	Y140C	probably damaging	Het
Mapk8ip3	G	A	17: 24,903,293	T706I	probably benign	Het
Mast4	A	C	13: 103,334,021	S58A	possibly damaging	Het
Mcm6	T	C	1: 128,351,548	D167G	probably benign	Het
Mmachc	A	T	4: 116,703,471	S276T	probably damaging	Het
Nfat5	A	T	8: 107,369,276	Q1289L	probably damaging	Het
Nlrc4	G	T	17: 74,446,628	F253L	probably damaging	Het
Olfr1367	T	C	13: 21,347,464	F179L	probably damaging	Het
Olfr45	T	A	7: 140,691,378	S158T	probably benign	Het
Olfr455	T	A	6: 42,538,441	T194S	possibly damaging	Het
Olfr853	G	T	9: 19,537,673	Q86K	possibly damaging	Het
Orc5	G	T	5: 22,548,005	F10L	probably benign	Het
Pde10a	A	C	17: 8,981,652	D779A	probably damaging	Het
Pde4b	T	C	4: 102,601,605	L486S	probably damaging	Het
Pex2	A	T	3: 5,561,281	I156N	probably damaging	Het
Phtf2	C	T	5: 20,773,740	R63Q	probably damaging	Het
Prag1	A	G	8: 36,103,292	Y343C	probably damaging	Het
Prdm16	A	T	4: 154,367,240	Y170N	probably damaging	Het
Prpf6	A	C	2: 181,601,474	K5T	probably damaging	Het
Ptpn1	A	G	2: 167,967,781	K103R	probably benign	Het
Ralgapa2	A	G	2: 146,361,453	S1159P	possibly damaging	Het
Rapgef3	G	T	15: 97,758,929	D318E	probably damaging	Het
Ripk4	A	T	16: 97,744,026	S474T	probably damaging	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Sec16a	A	G	2: 26,429,393	V1491A	probably damaging	Het
Sec16a	C	T	2: 26,431,068		probably null	Het
Setd7	G	T	3: 51,542,665	N113K	probably damaging	Het
Shank2	C	T	7: 144,411,424	T1502M	probably damaging	Het
Skor1	A	T	9: 63,145,476	C376S	probably damaging	Het
Slc12a3	A	T	8: 94,329,384	L49F	probably benign	Het
Slc35d3	C	T	10: 19,849,331	V260M	probably damaging	Het
Slc46a1	T	A	11: 78,466,889	V256E	probably benign	Het
Slc6a1	T	C	6: 114,308,106	S127P	probably benign	Het
Syngr4	A	G	7: 45,887,028	L190P	probably damaging	Het
Tagap	G	A	17: 7,926,941		probably null	Het
Tamm41	A	T	6: 115,035,002	N89K	probably benign	Het
Tbc1d31	T	A	15: 57,967,912	M922K	probably benign	Het
Tbk1	T	C	10: 121,568,080	N254S	possibly damaging	Het
Tfec	A	G	6: 16,840,479	S140P	probably damaging	Het
Tnrc18	T	C	5: 142,740,128	E1802G	unknown	Het
Tom1l2	C	T	11: 60,242,707		probably null	Het
Tonsl	T	G	15: 76,637,224	K323Q	probably damaging	Het
Tsnaxip1	A	T	8: 105,841,407	E268D	probably damaging	Het
Ttf1	C	A	2: 29,065,160	H179N	possibly damaging	Het
Ttn	T	C	2: 76,726,173	S30163G	probably damaging	Het
Ube2c	A	G	2: 164,772,173	N143S	possibly damaging	Het
Ugt1a10	G	A	1: 88,218,390	R519Q	probably damaging	Het
Vmn2r9	T	C	5: 108,847,597	Y395C	probably damaging	Het
Vwa8	G	A	14: 79,103,697		probably null	Het
Zfp9	A	G	6: 118,464,976	Y242H	probably damaging	Het

Other mutations in Nr1i3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Nr1i3	APN	1	171214972	missense	possibly damaging	0.79
IGL02401:Nr1i3	APN	1	171216373	splice site	probably benign
IGL02964:Nr1i3	APN	1	171214395	missense	probably benign	0.00
election	UTSW	1	171216382	missense	probably damaging	0.99
R0023:Nr1i3	UTSW	1	171217331	missense	probably damaging	0.99
R0049:Nr1i3	UTSW	1	171214413	missense	probably damaging	1.00
R0049:Nr1i3	UTSW	1	171214413	missense	probably damaging	1.00
R0504:Nr1i3	UTSW	1	171217236	splice site	probably benign
R1437:Nr1i3	UTSW	1	171217141	frame shift	probably null
R1754:Nr1i3	UTSW	1	171217394	missense	probably damaging	1.00
R1893:Nr1i3	UTSW	1	171217223	critical splice donor site	probably null
R2116:Nr1i3	UTSW	1	171218594	missense	probably damaging	1.00
R3613:Nr1i3	UTSW	1	171214995	nonsense	probably null
R3787:Nr1i3	UTSW	1	171214425	missense	probably damaging	1.00
R4772:Nr1i3	UTSW	1	171217150	missense	probably damaging	1.00
R4792:Nr1i3	UTSW	1	171218595	missense	probably damaging	0.99
R4880:Nr1i3	UTSW	1	171216382	missense	probably damaging	0.99
R5072:Nr1i3	UTSW	1	171216813	missense	probably benign	0.11
R5349:Nr1i3	UTSW	1	171215072	missense	possibly damaging	0.94
R5527:Nr1i3	UTSW	1	171214352	missense	possibly damaging	0.91
R6768:Nr1i3	UTSW	1	171217397	missense	probably damaging	1.00
R6824:Nr1i3	UTSW	1	171214973	missense	probably benign	0.00
R7011:Nr1i3	UTSW	1	171214358	missense	probably benign	0.02
R7092:Nr1i3	UTSW	1	171214178	splice site	probably null
R7740:Nr1i3	UTSW	1	171216827	missense	probably benign	0.00
R8200:Nr1i3	UTSW	1	171217697	missense	probably benign	0.44
X0027:Nr1i3	UTSW	1	171214377	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCAATGAAGTCCCAAGGAAGCC -3'
(R):5'- AGATCTGTTCTCCATCAGGGC -3'

Sequencing Primer
(F):5'- AAGGAAGCCTCAGAAACTCTTTCTTC -3'
(R):5'- GTTCTCCATCAGGGCATAGC -3'

Posted On

2015-10-08