Mutagenetix > Incidental Mutation

Incidental Mutation 'R3431:Nr1h3'

268103

Institutional Source

Beutler Lab

Gene Symbol

Nr1h3

Ensembl Gene

ENSMUSG00000002108

Gene Name

nuclear receptor subfamily 1, group H, member 3

Synonyms

Unr1, LXR alpha

MMRRC Submission

040649-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3431 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

91014406-91033179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91022205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 141 (D141G)

Ref Sequence

ENSEMBL: ENSMUSP00000106988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002177] [ENSMUST00000111354] [ENSMUST00000111355] [ENSMUST00000111356]

AlphaFold

Q9Z0Y9

Predicted Effect

probably damaging
Transcript: ENSMUST00000002177
AA Change: D141G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002177
Gene: ENSMUSG00000002108
AA Change: D141G

Domain	Start	End	E-Value	Type
ZnF_C4	93	164	1e-35	SMART
low complexity region	189	209	N/A	INTRINSIC
HOLI	257	416	1.84e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111354
AA Change: D141G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106986
Gene: ENSMUSG00000002108
AA Change: D141G

Domain	Start	End	E-Value	Type
ZnF_C4	93	164	1e-35	SMART
low complexity region	189	209	N/A	INTRINSIC
HOLI	257	416	1.84e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111355
AA Change: D141G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106987
Gene: ENSMUSG00000002108
AA Change: D141G

Domain	Start	End	E-Value	Type
ZnF_C4	93	164	1e-35	SMART
HOLI	202	356	3.76e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111356
AA Change: D141G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106988
Gene: ENSMUSG00000002108
AA Change: D141G

Domain	Start	End	E-Value	Type
ZnF_C4	93	164	1e-35	SMART
low complexity region	189	209	N/A	INTRINSIC
HOLI	257	416	1.84e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136234

Meta Mutation Damage Score

0.9367

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased male fertility, increased suseceptibility to bacterial infection, and diet-sensitive increase in liver size, steatosis, and cholesterol level. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,746,560 (GRCm39)	H140R	possibly damaging	Het
Adamts3	A	G	5: 89,855,312 (GRCm39)		probably benign	Het
Apob	T	G	12: 8,060,778 (GRCm39)	F3054V	probably damaging	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Calcb	A	T	7: 114,319,064 (GRCm39)	R30W	probably damaging	Het
Cbl	T	C	9: 44,062,743 (GRCm39)	*914W	probably null	Het
Chd4	A	G	6: 125,097,523 (GRCm39)		probably benign	Het
Clec4a2	A	T	6: 123,116,370 (GRCm39)		probably null	Het
Crb2	T	A	2: 37,682,229 (GRCm39)	V870E	probably benign	Het
Cyp2c39	A	G	19: 39,525,306 (GRCm39)	E203G	probably damaging	Het
Dhrs7	A	T	12: 72,711,501 (GRCm39)	L12Q	probably damaging	Het
Dnah5	A	G	15: 28,295,413 (GRCm39)	Y1382C	probably benign	Het
Efs	C	T	14: 55,157,681 (GRCm39)	R117Q	probably damaging	Het
Evl	T	C	12: 108,614,567 (GRCm39)		probably benign	Het
Fbxo16	T	C	14: 65,531,233 (GRCm39)	F46L	probably damaging	Het
Fsip2	A	G	2: 82,822,354 (GRCm39)	E6029G	possibly damaging	Het
Gm20775	A	T	Y: 10,641,956 (GRCm39)		noncoding transcript	Het
Gm4924	T	A	10: 82,214,864 (GRCm39)	Y887*	probably null	Het
H60c	G	T	10: 3,210,382 (GRCm39)	R56S	possibly damaging	Het
Hbq1a	T	G	11: 32,250,715 (GRCm39)	S133A	probably benign	Het
Hhipl1	A	G	12: 108,277,948 (GRCm39)	E92G	probably damaging	Het
Knl1	A	T	2: 118,892,843 (GRCm39)	E46D	probably damaging	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mmp21	T	C	7: 133,280,479 (GRCm39)	T164A	probably benign	Het
Mthfd2	T	C	6: 83,288,330 (GRCm39)	R142G	probably benign	Het
Mup4	T	G	4: 59,959,192 (GRCm39)		probably null	Het
Npas3	A	T	12: 54,115,832 (GRCm39)	Q900L	probably damaging	Het
Rap2a	G	T	14: 120,741,170 (GRCm39)	A158S	possibly damaging	Het
Rttn	A	G	18: 89,113,695 (GRCm39)	T1705A	probably benign	Het
Ryr3	A	T	2: 112,486,876 (GRCm39)	V3834E	probably damaging	Het
Taf5	A	C	19: 47,064,272 (GRCm39)	K405T	probably damaging	Het
Tbc1d19	T	C	5: 54,005,548 (GRCm39)		probably benign	Het
Tmem232	A	T	17: 65,572,297 (GRCm39)		probably null	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Tulp4	C	A	17: 6,257,239 (GRCm39)	S311R	probably benign	Het
Uggt1	C	A	1: 36,249,140 (GRCm39)	E267*	probably null	Het
Usp34	T	C	11: 23,320,466 (GRCm39)	I917T	possibly damaging	Het

Other mutations in Nr1h3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Nr1h3	APN	2	91,020,544 (GRCm39)	missense	probably damaging	1.00
IGL02198:Nr1h3	APN	2	91,023,070 (GRCm39)	missense	probably damaging	1.00
IGL02992:Nr1h3	APN	2	91,020,911 (GRCm39)	missense	probably damaging	1.00
IGL03103:Nr1h3	APN	2	91,022,360 (GRCm39)	missense	probably damaging	1.00
R0302:Nr1h3	UTSW	2	91,022,358 (GRCm39)	missense	probably damaging	0.98
R0350:Nr1h3	UTSW	2	91,022,170 (GRCm39)	missense	possibly damaging	0.68
R2397:Nr1h3	UTSW	2	91,022,202 (GRCm39)	missense	possibly damaging	0.81
R2439:Nr1h3	UTSW	2	91,020,565 (GRCm39)	missense	probably benign	0.45
R2988:Nr1h3	UTSW	2	91,015,349 (GRCm39)	missense	probably damaging	0.96
R4842:Nr1h3	UTSW	2	91,020,563 (GRCm39)	missense	probably benign	0.09
R5355:Nr1h3	UTSW	2	91,022,253 (GRCm39)	missense	possibly damaging	0.67
R6137:Nr1h3	UTSW	2	91,022,196 (GRCm39)	missense	probably damaging	1.00
R6982:Nr1h3	UTSW	2	91,021,104 (GRCm39)	missense	probably damaging	0.98
R7380:Nr1h3	UTSW	2	91,020,540 (GRCm39)	missense	possibly damaging	0.83
R7531:Nr1h3	UTSW	2	91,014,739 (GRCm39)	missense	probably damaging	1.00
R7753:Nr1h3	UTSW	2	91,015,370 (GRCm39)	missense	probably damaging	1.00
R7980:Nr1h3	UTSW	2	91,021,229 (GRCm39)	missense	probably benign	0.03
R8831:Nr1h3	UTSW	2	91,021,091 (GRCm39)	missense	probably benign	0.27
R8861:Nr1h3	UTSW	2	91,024,026 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACTCAGGAGATCTCTGCAAG -3'
(R):5'- GGAGGGAGAACATTAAATCTTGTGTC -3'

Sequencing Primer
(F):5'- CTGCAAGTGTAAGCATCTGTC -3'
(R):5'- GAGCTTCGTCCACAAAAGCGG -3'

Posted On

2015-02-18