Mutagenetix > Incidental Mutation

Incidental Mutation 'R6137:Nr1h3'

488388

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

044284-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91014406-91033179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91022196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 144 (M144K)

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: M144K

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

SMART Domains

Protein: ENSMUSP00000002177
Gene: ENSMUSG00000002108
AA Change: M144K

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: M144K

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

SMART Domains

Protein: ENSMUSP00000106986
Gene: ENSMUSG00000002108
AA Change: M144K

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: M144K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106987
Gene: ENSMUSG00000002108
AA Change: M144K

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: M144K

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

SMART Domains

Protein: ENSMUSP00000106988
Gene: ENSMUSG00000002108
AA Change: M144K

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	G	T	7: 130,959,342 (GRCm39)	H165Q	probably damaging	Het
Akap13	T	A	7: 75,327,164 (GRCm39)	F721Y	probably damaging	Het
Akap6	A	T	12: 53,187,137 (GRCm39)	D1517V	probably damaging	Het
Amigo3	T	A	9: 107,930,927 (GRCm39)	S117T	probably damaging	Het
Atf7ip2	T	A	16: 10,019,275 (GRCm39)	N34K	probably damaging	Het
Cacnb1	A	C	11: 97,896,608 (GRCm39)	V351G	probably damaging	Het
Casp9	T	A	4: 141,532,660 (GRCm39)		probably null	Het
Ccdc51	C	T	9: 108,918,483 (GRCm39)	T24I	probably benign	Het
Cdh23	T	A	10: 60,270,291 (GRCm39)	Y618F	probably damaging	Het
Chd1	T	A	17: 15,978,950 (GRCm39)	W1271R	probably damaging	Het
Dars1	T	C	1: 128,296,176 (GRCm39)	T386A	probably benign	Het
Dchs1	T	A	7: 105,414,313 (GRCm39)	D834V	probably damaging	Het
Dgkd	T	A	1: 87,864,103 (GRCm39)	V933E	possibly damaging	Het
Dnah17	A	G	11: 117,916,480 (GRCm39)	F4203S	probably damaging	Het
Fancm	T	C	12: 65,177,156 (GRCm39)	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,316,097 (GRCm39)	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,105,290 (GRCm39)	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,431,055 (GRCm39)	S237P	probably damaging	Het
Frem3	T	C	8: 81,341,676 (GRCm39)	I1323T	probably benign	Het
Grin2a	A	G	16: 9,471,313 (GRCm39)	F652L	probably benign	Het
Grin2b	T	A	6: 135,900,456 (GRCm39)	M142L	possibly damaging	Het
Helz	A	G	11: 107,509,886 (GRCm39)	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,822,915 (GRCm39)	Y69H	probably benign	Het
Il17ra	A	G	6: 120,452,543 (GRCm39)	N242S	probably benign	Het
Immp1l	G	C	2: 105,794,553 (GRCm39)	G117A	probably damaging	Het
Itm2c	T	C	1: 85,822,413 (GRCm39)	V10A	probably benign	Het
Kif1b	T	C	4: 149,322,883 (GRCm39)	K679E	possibly damaging	Het
Kng1	T	C	16: 22,893,395 (GRCm39)	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,041,899 (GRCm39)	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,587,232 (GRCm39)	F621S	probably damaging	Het
Lpl	T	A	8: 69,345,399 (GRCm39)	D134E	probably damaging	Het
Lypd3	T	C	7: 24,339,919 (GRCm39)	Y329H	probably benign	Het
Mettl13	T	C	1: 162,363,455 (GRCm39)	D225G	probably benign	Het
Myo7b	A	G	18: 32,133,027 (GRCm39)	F441L	probably damaging	Het
Nnt	T	A	13: 119,472,864 (GRCm39)	M699L	possibly damaging	Het
Or2t46	A	T	11: 58,471,894 (GRCm39)	M75L	probably benign	Het
Or5al6	A	G	2: 85,976,313 (GRCm39)	V255A	probably benign	Het
Or6z6	T	C	7: 6,491,844 (GRCm39)	T3A	probably benign	Het
Pappa2	A	T	1: 158,699,113 (GRCm39)	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,285,674 (GRCm39)	I155V	probably benign	Het
Ptgs2	T	A	1: 149,976,744 (GRCm39)	N24K	probably benign	Het
Ralgds	A	T	2: 28,437,600 (GRCm39)	M514L	probably damaging	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,398,070 (GRCm39)	V254D	probably damaging	Het
Selenot	A	T	3: 58,492,705 (GRCm39)	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,741,677 (GRCm39)	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,592,754 (GRCm39)	V10A	probably benign	Het
Spem2	G	T	11: 69,707,522 (GRCm39)	S481*	probably null	Het
Styk1	C	T	6: 131,287,979 (GRCm39)	G128D	probably damaging	Het
Tex54	A	T	19: 8,718,148 (GRCm39)	D6V	probably damaging	Het
Tmc6	A	T	11: 117,667,154 (GRCm39)	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,552,199 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,555,267 (GRCm39)	V772A	probably benign	Het
Topaz1	T	C	9: 122,626,821 (GRCm39)	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,192,699 (GRCm39)	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262 (GRCm39)	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,996,882 (GRCm39)	I129T	probably benign	Het
Wwc2	A	T	8: 48,309,298 (GRCm39)	M828K	unknown	Het
Zfp236	A	T	18: 82,689,919 (GRCm39)	S187T	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
R3431:Nr1h3	UTSW	2	91,022,205 (GRCm39)	missense	probably damaging	1.00
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
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'- AGGAAGTTTTAATCCACACTCAGGAG -3'
(R):5'- GTGTCTCTATCCAGAGCTTCG -3'

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

Posted On

2017-10-10