Mutagenetix > Incidental Mutation

Incidental Mutation 'R8200:Nr1i3'

635614

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

067623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8200 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171041503-171046414 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 171045266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 305 (H305N)

Ref Sequence

ENSEMBL: ENSMUSP00000005820 (fasta)

Gene Model

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

AlphaFold

O35627

PDB Structure

Crystal structure of the mouse CAR/RXR LBD heterodimer bound to TCPOBOP and 9cRA and a TIF2 peptide containg the third LXXLL motifs [X-RAY DIFFRACTION]
Crystal structure of constitutive androstane receptor [X-RAY DIFFRACTION]

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: H305N

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005820
Gene: ENSMUSG00000005677
AA Change: H305N

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

SMART Domains

Protein: ENSMUSP00000074915
Gene: ENSMUSG00000005677

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: H304N

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106960
Gene: ENSMUSG00000005677
AA Change: H304N

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

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

probably benign
Transcript: ENSMUST00000155126
AA Change: H168N

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137683
Gene: ENSMUSG00000005677
AA Change: H168N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.3%

Validation Efficiency

100% (38/38)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555G01Rik	T	A	14: 5,052,797 (GRCm38)	M132K	probably benign	Het
Abtb2	A	G	2: 103,531,162 (GRCm39)	I431V	probably benign	Het
Ache	A	G	5: 137,292,457 (GRCm39)	Q601R	probably damaging	Het
Ap3d1	A	T	10: 80,558,766 (GRCm39)	C279*	probably null	Het
Brms1l	T	C	12: 55,891,183 (GRCm39)	L79P	probably damaging	Het
Brpf3	C	T	17: 29,025,248 (GRCm39)	A107V	probably benign	Het
Catsperd	T	C	17: 56,939,368 (GRCm39)		probably null	Het
Ccnb1ip1	C	T	14: 51,029,750 (GRCm39)	R104H	probably benign	Het
Ces1g	T	A	8: 94,055,085 (GRCm39)	N204I	probably damaging	Het
Cmbl	T	C	15: 31,585,539 (GRCm39)	V141A	probably benign	Het
Dmxl2	A	T	9: 54,387,630 (GRCm39)	H69Q	probably benign	Het
Dnah10	T	C	5: 124,905,524 (GRCm39)	L4113P	probably damaging	Het
Fam120a	T	C	13: 49,102,595 (GRCm39)	H220R	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Gm43218	C	T	6: 70,217,528 (GRCm39)	G76E	probably damaging	Het
Gypa	A	T	8: 81,220,695 (GRCm39)	T5S	unknown	Het
Hyal6	A	G	6: 24,734,565 (GRCm39)	D166G	probably benign	Het
Immt	T	A	6: 71,848,421 (GRCm39)	V470D	probably damaging	Het
Itpr1	A	G	6: 108,371,826 (GRCm39)	S1167G	probably benign	Het
Ndufs1	A	T	1: 63,209,331 (GRCm39)		probably null	Het
Nucb2	T	C	7: 116,132,398 (GRCm39)		probably null	Het
Plau	A	C	14: 20,889,181 (GRCm39)	K130T	possibly damaging	Het
Ppef2	A	T	5: 92,393,251 (GRCm39)	V246E	probably benign	Het
Prune2	G	A	19: 17,102,337 (GRCm39)	V2499I	probably benign	Het
Rnf207	C	T	4: 152,398,492 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,123,542 (GRCm39)	T7A	probably benign	Het
Sh3bp5l	T	C	11: 58,222,685 (GRCm39)	I60T	probably damaging	Het
Taar9	A	G	10: 23,985,317 (GRCm39)	L39P	probably damaging	Het
Tcl1b5	A	T	12: 105,145,212 (GRCm39)	M59L	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Thap2	A	T	10: 115,212,392 (GRCm39)	F44L		Het
Trp53bp1	A	G	2: 121,066,657 (GRCm39)	S690P	probably benign	Het
Ttc9	T	C	12: 81,707,435 (GRCm39)	Y165H	probably damaging	Het
Ttll11	A	G	2: 35,834,940 (GRCm39)	I162T	probably damaging	Het
Ttll5	T	A	12: 85,926,184 (GRCm39)	I326N	probably damaging	Het
Tuft1	A	T	3: 94,523,977 (GRCm39)	D292E	probably damaging	Het
Ubap2l	T	C	3: 89,930,933 (GRCm39)	S365G	probably benign	Het
Ugt2b37	G	A	5: 87,388,750 (GRCm39)	Q488*	probably null	Het
Vmo1	A	G	11: 70,405,325 (GRCm39)	V35A	possibly damaging	Het
Wdr36	A	G	18: 32,998,979 (GRCm39)	K875R	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
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
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'- GCTTTCAAGCCTAAGCAAGGG -3'
(R):5'- GCAGTCTGAGCAATCTGGATAC -3'

Sequencing Primer
(F):5'- GCCTAAGCAAGGGTCTATCTATAC -3'
(R):5'- AGCAATCTGGATACTGTGTGC -3'

Posted On

2020-07-13