Mutagenetix > Incidental Mutation

Incidental Mutation 'R4842:Nr1h3'

371886

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

042455-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4842 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91014406-91033179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91020563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 257 (F257L)

Ref Sequence

ENSEMBL: ENSMUSP00000106987 (fasta)

Gene Model

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

AlphaFold

Q9Z0Y9

Predicted Effect

probably benign
Transcript: ENSMUST00000002177
AA Change: F317L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000002177
Gene: ENSMUSG00000002108
AA Change: F317L

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 benign
Transcript: ENSMUST00000111354
AA Change: F317L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000106986
Gene: ENSMUSG00000002108
AA Change: F317L

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 benign
Transcript: ENSMUST00000111355
AA Change: F257L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106987
Gene: ENSMUSG00000002108
AA Change: F257L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111356
AA Change: F317L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000106988
Gene: ENSMUSG00000002108
AA Change: F317L

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: ENSMUST00000133261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150654

Meta Mutation Damage Score

0.0675

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

95% (107/113)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 15,164,001 (GRCm39)	I43L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,749,153 (GRCm39)		noncoding transcript	Het
Abcc8	T	C	7: 45,800,252 (GRCm39)	K510R	probably damaging	Het
Adamtsl3	C	T	7: 82,178,069 (GRCm39)	R511C	probably damaging	Het
Arhgap11a	T	C	2: 113,670,107 (GRCm39)	S339G	probably damaging	Het
C2cd3	A	G	7: 100,065,397 (GRCm39)	T728A	probably benign	Het
Cand1	C	A	10: 119,049,451 (GRCm39)		probably null	Het
Catspere1	A	T	1: 177,699,624 (GRCm39)		noncoding transcript	Het
Ccdc121rt2	A	T	5: 112,598,106 (GRCm39)	K218*	probably null	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cdc16	A	G	8: 13,831,644 (GRCm39)		probably benign	Het
Ces1g	C	T	8: 94,060,323 (GRCm39)	E99K	probably benign	Het
Chrna7	A	C	7: 62,862,196 (GRCm39)	L10R	probably benign	Het
Clnk	C	T	5: 38,870,412 (GRCm39)		probably null	Het
Cntrob	C	G	11: 69,206,220 (GRCm39)	L315F	possibly damaging	Het
Ctdp1	A	G	18: 80,451,941 (GRCm39)	S145P	unknown	Het
Dennd2a	T	C	6: 39,474,044 (GRCm39)	D430G	probably damaging	Het
Dnajc16	A	G	4: 141,501,936 (GRCm39)	F298S	probably damaging	Het
Dock5	T	C	14: 68,055,012 (GRCm39)	D618G	probably damaging	Het
Drc3	G	A	11: 60,261,361 (GRCm39)	A171T	probably benign	Het
Ecel1	A	T	1: 87,081,023 (GRCm39)	N322K	probably damaging	Het
Eftud2	A	G	11: 102,745,640 (GRCm39)	F362L	probably damaging	Het
Egfr	C	T	11: 16,861,607 (GRCm39)	H1129Y	probably benign	Het
Eif2b1	A	G	5: 124,714,971 (GRCm39)	S102P	probably damaging	Het
Erich3	T	A	3: 154,410,480 (GRCm39)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,779,580 (GRCm39)	L261S	probably damaging	Het
Fat3	A	C	9: 15,908,883 (GRCm39)	V2373G	probably damaging	Het
Fcgbpl1	T	A	7: 27,850,147 (GRCm39)	C1198S	probably damaging	Het
Gadd45a	A	T	6: 67,013,873 (GRCm39)	L58Q	probably damaging	Het
Gask1b	G	A	3: 79,843,912 (GRCm39)	R377H	probably damaging	Het
Gipr	C	T	7: 18,896,601 (GRCm39)	R165H	probably damaging	Het
Gje1	C	T	10: 14,593,082 (GRCm39)	G45R	probably null	Het
Gldc	T	A	19: 30,111,132 (GRCm39)	N548I	possibly damaging	Het
Gm13035	A	G	4: 146,009,993 (GRCm39)		noncoding transcript	Het
Gm27013	T	A	6: 130,497,700 (GRCm39)		noncoding transcript	Het
Gm5436	A	T	12: 84,305,584 (GRCm39)		noncoding transcript	Het
Grik3	C	A	4: 125,584,969 (GRCm39)	N612K	probably damaging	Het
H2bc13	C	T	13: 21,900,234 (GRCm39)		probably benign	Het
Hfm1	C	A	5: 107,040,617 (GRCm39)	W716L	probably damaging	Het
Il5ra	T	C	6: 106,715,336 (GRCm39)	Y166C	probably damaging	Het
Iqcb1	A	G	16: 36,655,952 (GRCm39)	E113G	probably benign	Het
Kcnk10	A	T	12: 98,401,175 (GRCm39)	M486K	probably benign	Het
Kcnv2	A	G	19: 27,301,190 (GRCm39)	D347G	probably damaging	Het
Kif21b	C	A	1: 136,072,958 (GRCm39)	H119N	probably damaging	Het
Lamb1	C	T	12: 31,337,432 (GRCm39)	H388Y	probably damaging	Het
Leng9	T	C	7: 4,152,385 (GRCm39)	D97G	probably damaging	Het
Lmbr1	G	A	5: 29,492,424 (GRCm39)	T55I	probably damaging	Het
Lrp1	G	T	10: 127,419,805 (GRCm39)	R935S	probably damaging	Het
Lrp2	A	T	2: 69,299,755 (GRCm39)	V3099E	probably benign	Het
Lrrcc1	C	A	3: 14,627,571 (GRCm39)	D503E	probably benign	Het
Map1a	T	A	2: 121,132,567 (GRCm39)	S890T	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mybph	A	T	1: 134,126,233 (GRCm39)	E349V	probably damaging	Het
Myh7b	C	A	2: 155,475,909 (GRCm39)	L1935M	probably benign	Het
Myh9	T	C	15: 77,653,453 (GRCm39)	E1348G	probably damaging	Het
Myzap	A	G	9: 71,456,037 (GRCm39)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,292,534 (GRCm39)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,555,160 (GRCm39)	S412N	probably null	Het
Nudt5	T	C	2: 5,869,239 (GRCm39)	V155A	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or13a25	A	T	7: 140,247,502 (GRCm39)	I94F	probably damaging	Het
Or52d3	A	T	7: 104,229,422 (GRCm39)	I190L	probably benign	Het
Or6ae1	A	G	7: 139,742,602 (GRCm39)	L87P	possibly damaging	Het
Pde1a	T	A	2: 79,959,181 (GRCm39)		probably benign	Het
Pde4dip	T	A	3: 97,700,844 (GRCm39)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,662,135 (GRCm39)		probably null	Het
Pnkp	C	A	7: 44,511,070 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,870,064 (GRCm39)	T15A	probably benign	Het
Polq	G	T	16: 36,869,145 (GRCm39)		probably null	Het
Ppfia2	C	T	10: 106,690,818 (GRCm39)	T553I	probably benign	Het
Ptk6	T	G	2: 180,838,784 (GRCm39)	N323T	possibly damaging	Het
Rhox3c	G	A	X: 36,652,077 (GRCm39)	A60T	probably damaging	Het
Rnf4	T	A	5: 34,506,053 (GRCm39)	V61E	probably damaging	Het
Rnf5	A	G	17: 34,820,977 (GRCm39)		probably benign	Het
Sardh	A	G	2: 27,081,967 (GRCm39)	V853A	probably benign	Het
Scfd1	T	C	12: 51,436,109 (GRCm39)	V86A	probably damaging	Het
Scube3	G	A	17: 28,383,097 (GRCm39)	C425Y	probably damaging	Het
Sema5a	C	T	15: 32,609,563 (GRCm39)	H490Y	probably benign	Het
Sfta2	T	C	17: 35,960,773 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,031,049 (GRCm39)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,458,295 (GRCm39)	R463G	probably damaging	Het
Socs7	T	A	11: 97,267,829 (GRCm39)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,654,988 (GRCm39)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,078,478 (GRCm39)	H426P	probably benign	Het
Stag3	T	G	5: 138,307,627 (GRCm39)		probably null	Het
Stxbp5	C	A	10: 9,638,635 (GRCm39)	V1055L	probably benign	Het
Synpo	A	T	18: 60,736,684 (GRCm39)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,759,770 (GRCm39)	V135A	possibly damaging	Het
Tas2r116	G	A	6: 132,832,660 (GRCm39)	S87N	probably benign	Het
Tomm6	T	C	17: 47,998,994 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,966,915 (GRCm39)	M113T	probably benign	Het
Trim58	G	A	11: 58,542,150 (GRCm39)	G370E	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Vit	T	C	17: 78,909,308 (GRCm39)	S252P	probably benign	Het
Vma21-ps	T	A	4: 52,496,943 (GRCm39)	D101V	probably damaging	Het
Vmn1r173	A	T	7: 23,402,361 (GRCm39)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,529,336 (GRCm39)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,582,246 (GRCm39)	N545S	probably damaging	Het
Zfp865	A	G	7: 5,034,640 (GRCm39)	Y875C	probably 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
R3431:Nr1h3	UTSW	2	91,022,205 (GRCm39)	missense	probably damaging	1.00
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'- AGACGCTTGTTGCATCAACTCC -3'
(R):5'- CCTCCAGATATCCAGCTTGG -3'

Sequencing Primer
(F):5'- AGATGCTTCCATGGCTGATCAAC -3'
(R):5'- GGAGAGTCCAAGCCACAGG -3'

Posted On

2016-03-01