Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:Nr1h3'

597345

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

045809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91014406-91033179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91015370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 338 (F338S)

Ref Sequence

ENSEMBL: ENSMUSP00000002177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002177] [ENSMUST00000066420] [ENSMUST00000066473] [ENSMUST00000075269] [ENSMUST00000077941] [ENSMUST00000099723] [ENSMUST00000111354] [ENSMUST00000111355] [ENSMUST00000111356] [ENSMUST00000111370] [ENSMUST00000111371] [ENSMUST00000111372] [ENSMUST00000111376] [ENSMUST00000111381]

AlphaFold

Q9Z0Y9

PDB Structure

Liver X-Receptor alpha Ligand Binding Domain with SB313987 [X-RAY DIFFRACTION]
humanRXR alpha & mouse LXR alpha complexed with Retenoic acid and GSK2186 [X-RAY DIFFRACTION]
hRXRalpha & mLXRalpha with an indole Pharmacophore, SB786875 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000002177
AA Change: F338S

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

SMART Domains

Protein: ENSMUSP00000002177
Gene: ENSMUSG00000002108
AA Change: F338S

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: ENSMUST00000066420

SMART Domains

Protein: ENSMUSP00000067210
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066473

SMART Domains

Protein: ENSMUSP00000069350
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075269

SMART Domains

Protein: ENSMUSP00000074746
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	719	N/A	INTRINSIC
low complexity region	762	770	N/A	INTRINSIC
low complexity region	797	820	N/A	INTRINSIC
low complexity region	889	899	N/A	INTRINSIC
low complexity region	1276	1290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077941

SMART Domains

Protein: ENSMUSP00000077094
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1354	1368	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099723

SMART Domains

Protein: ENSMUSP00000097311
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1189	1203	N/A	INTRINSIC
low complexity region	1353	1367	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111354
AA Change: F338S

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

SMART Domains

Protein: ENSMUSP00000106986
Gene: ENSMUSG00000002108
AA Change: F338S

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: F278S

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

SMART Domains

Protein: ENSMUSP00000106987
Gene: ENSMUSG00000002108
AA Change: F278S

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: F338S

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

SMART Domains

Protein: ENSMUSP00000106988
Gene: ENSMUSG00000002108
AA Change: F338S

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: ENSMUST00000111370

SMART Domains

Protein: ENSMUSP00000107001
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111371

SMART Domains

Protein: ENSMUSP00000107002
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	719	N/A	INTRINSIC
low complexity region	762	770	N/A	INTRINSIC
low complexity region	797	820	N/A	INTRINSIC
low complexity region	909	919	N/A	INTRINSIC
low complexity region	1296	1310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111372

SMART Domains

Protein: ENSMUSP00000107003
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1295	1309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111376

SMART Domains

Protein: ENSMUSP00000107007
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1151	1162	N/A	INTRINSIC
low complexity region	1312	1326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111381

SMART Domains

Protein: ENSMUSP00000107012
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1315	1329	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,074,933 (GRCm39)	T1377A	probably damaging	Het
AI661453	G	T	17: 47,778,439 (GRCm39)	E722*	probably null	Het
Ap2b1	A	T	11: 83,258,733 (GRCm39)	K735*	probably null	Het
Aqp4	T	C	18: 15,533,033 (GRCm39)	E20G	probably benign	Het
Atp6v1b1	G	T	6: 83,729,440 (GRCm39)	V117L	probably benign	Het
C1rb	A	G	6: 124,557,390 (GRCm39)	N509S	probably benign	Het
Cep44	A	G	8: 56,985,842 (GRCm39)	V350A	probably benign	Het
Cmya5	T	C	13: 93,234,680 (GRCm39)	Q136R	probably benign	Het
Cntrl	T	C	2: 35,001,691 (GRCm39)	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,441,164 (GRCm39)	E201V	possibly damaging	Het
Cyp4a14	G	T	4: 115,350,861 (GRCm39)	Q138K	probably damaging	Het
Dapk1	T	C	13: 60,899,007 (GRCm39)	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,061,448 (GRCm39)	D294G	probably benign	Het
Ddx10	A	T	9: 53,136,904 (GRCm39)	L336Q	probably damaging	Het
Dop1a	A	G	9: 86,371,755 (GRCm39)	T149A	possibly damaging	Het
Epg5	A	G	18: 77,991,560 (GRCm39)	T86A	possibly damaging	Het
Fam171a1	A	T	2: 3,179,354 (GRCm39)	Q60L	probably damaging	Het
Farsb	T	A	1: 78,456,740 (GRCm39)	E41D	probably benign	Het
Frem1	T	C	4: 82,832,217 (GRCm39)	D1956G	probably benign	Het
Fzd4	T	A	7: 89,056,992 (GRCm39)	Y346*	probably null	Het
Fzd7	A	T	1: 59,522,641 (GRCm39)	S175C	probably benign	Het
Gdi2	A	G	13: 3,598,956 (GRCm39)	T47A	probably benign	Het
Gpr155	A	T	2: 73,212,550 (GRCm39)	H24Q	probably benign	Het
Hdac7	A	T	15: 97,698,642 (GRCm39)	N638K	possibly damaging	Het
Hdac7	G	T	15: 97,704,369 (GRCm39)	N515K	probably benign	Het
Hnrnpul2	T	C	19: 8,802,336 (GRCm39)	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,417,519 (GRCm39)	R223*	probably null	Het
Igkv4-91	T	G	6: 68,745,761 (GRCm39)	S46R	probably benign	Het
Itk	T	A	11: 46,222,722 (GRCm39)	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,481,218 (GRCm39)	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 141,729,136 (GRCm39)		probably benign	Het
Lce1m	C	A	3: 92,925,815 (GRCm39)	G41W	unknown	Het
Mapk10	T	A	5: 103,186,419 (GRCm39)	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,345,856 (GRCm39)	E812G	probably damaging	Het
Mlh1	C	A	9: 111,081,931 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,317,475 (GRCm39)	D784G	possibly damaging	Het
Neo1	A	T	9: 58,863,288 (GRCm39)	D426E	probably benign	Het
Nol4	T	A	18: 23,171,659 (GRCm39)	M1L	probably benign	Het
Oasl2	A	G	5: 115,043,118 (GRCm39)	K297E	probably benign	Het
Or10ag59	A	G	2: 87,406,141 (GRCm39)	T238A	probably benign	Het
Or10z1	C	T	1: 174,078,236 (GRCm39)	V86I	probably benign	Het
Or4f14	A	G	2: 111,742,927 (GRCm39)	I116T	probably benign	Het
Or56a5	T	C	7: 104,793,007 (GRCm39)	I164M	probably benign	Het
Or5m5	A	G	2: 85,815,060 (GRCm39)	N292S	possibly damaging	Het
Osbpl9	T	C	4: 108,990,970 (GRCm39)	T97A	possibly damaging	Het
P3h2	A	T	16: 25,789,687 (GRCm39)	Y527N	probably damaging	Het
Papss2	A	T	19: 32,597,579 (GRCm39)	H9L	probably benign	Het
Pcdha4	C	A	18: 37,086,354 (GRCm39)	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,730,131 (GRCm39)	D28V	possibly damaging	Het
Prkcz	T	A	4: 155,357,425 (GRCm39)	Q345L	possibly damaging	Het
Prr14l	G	T	5: 32,984,597 (GRCm39)	L1633I	probably damaging	Het
Prss51	T	A	14: 64,333,376 (GRCm39)	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,347,868 (GRCm39)		probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Slc2a7	T	C	4: 150,239,141 (GRCm39)	I122T	possibly damaging	Het
Spata31e4	A	T	13: 50,855,817 (GRCm39)	D485V	probably damaging	Het
Sprr3	G	A	3: 92,364,415 (GRCm39)	P143L	probably benign	Het
Sugct	A	T	13: 17,752,104 (GRCm39)	S181T	possibly damaging	Het
Syne2	G	A	12: 76,085,697 (GRCm39)	R141Q	probably benign	Het
Taok1	T	C	11: 77,428,725 (GRCm39)	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,269,306 (GRCm39)		probably null	Het
Thada	T	C	17: 84,559,818 (GRCm39)	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,852,156 (GRCm39)	L104S	probably damaging	Het
Tln2	T	G	9: 67,302,755 (GRCm39)	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,705,137 (GRCm39)	E75G	probably damaging	Het
Tox3	A	G	8: 90,975,560 (GRCm39)	L357P	probably damaging	Het
Ubr4	T	C	4: 139,197,603 (GRCm39)	V4492A	unknown	Het
Ulk4	A	G	9: 121,095,578 (GRCm39)		probably null	Het
Ush2a	A	G	1: 188,175,603 (GRCm39)	T1234A	probably benign	Het
Usp53	G	A	3: 122,742,887 (GRCm39)	T683I	probably damaging	Het
Vcan	T	A	13: 89,837,442 (GRCm39)	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,399,834 (GRCm39)	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,806,663 (GRCm39)	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,213,040 (GRCm39)	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,374,895 (GRCm39)	D785G	probably benign	Het
Zfp397	A	T	18: 24,090,129 (GRCm39)	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,904,249 (GRCm39)	T1393S	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
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
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'- AGGGACTATAGCCATCCTGG -3'
(R):5'- GAGGCTTAGAGAAGTTTAGAACCTTG -3'

Sequencing Primer
(F):5'- CCATCCTGGGCGAAACC -3'
(R):5'- CTGGGAATTGAACTCAGGACCTCTG -3'

Posted On

2019-11-26