Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Nr1h2'

682391

Institutional Source

Beutler Lab

Gene Symbol

Nr1h2

Ensembl Gene

ENSMUSG00000060601

Gene Name

nuclear receptor subfamily 1, group H, member 2

Synonyms

RIP15, LXRB, Unr2, LXRbeta

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.636) question?

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44549616-44553951 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44552039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 50 (T50A)

Ref Sequence

ENSEMBL: ENSMUSP00000146826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049343] [ENSMUST00000073488] [ENSMUST00000107910] [ENSMUST00000107911] [ENSMUST00000107912] [ENSMUST00000128600] [ENSMUST00000142298] [ENSMUST00000145956] [ENSMUST00000151793] [ENSMUST00000167197] [ENSMUST00000207737] [ENSMUST00000208366] [ENSMUST00000209017]

AlphaFold

Q60644

Predicted Effect

probably benign
Transcript: ENSMUST00000049343

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	65	108	1e-7	BLAST
low complexity region	212	225	N/A	INTRINSIC
Blast:POLBc	227	279	1e-19	BLAST
POLBc	306	763	2.53e-161	SMART
Blast:POLBc	790	837	1e-18	BLAST
Pfam:zf-C4pol	1010	1080	5.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073488
AA Change: T121A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000073188
Gene: ENSMUSG00000060601
AA Change: T121A

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
ZnF_C4	75	148	5.81e-32	SMART
low complexity region	153	188	N/A	INTRINSIC
low complexity region	190	202	N/A	INTRINSIC
HOLI	258	417	2.08e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107910
AA Change: T118A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103543
Gene: ENSMUSG00000060601
AA Change: T118A

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
ZnF_C4	72	145	5.81e-32	SMART
low complexity region	150	185	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
HOLI	255	414	2.08e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107911
AA Change: T118A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103544
Gene: ENSMUSG00000060601
AA Change: T118A

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
ZnF_C4	72	145	5.81e-32	SMART
low complexity region	150	185	N/A	INTRINSIC
low complexity region	187	199	N/A	INTRINSIC
HOLI	255	414	2.08e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107912
AA Change: T121A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103545
Gene: ENSMUSG00000060601
AA Change: T121A

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
ZnF_C4	75	148	5.81e-32	SMART
low complexity region	153	188	N/A	INTRINSIC
low complexity region	190	202	N/A	INTRINSIC
HOLI	258	417	2.08e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128600

Predicted Effect

probably benign
Transcript: ENSMUST00000142298

Predicted Effect

probably benign
Transcript: ENSMUST00000145956

SMART Domains

Protein: ENSMUSP00000117844
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	65	108	2e-8	BLAST
PDB:3IAY\|A	76	151	7e-8	PDB
SCOP:d1tgoa1	117	153	3e-10	SMART
Blast:POLBc	130	153	7e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000151793

SMART Domains

Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	66	108	1e-7	BLAST
low complexity region	212	225	N/A	INTRINSIC
Blast:POLBc	227	279	1e-19	BLAST
POLBc	306	763	7.8e-164	SMART
Blast:POLBc	790	837	1e-18	BLAST
low complexity region	914	938	N/A	INTRINSIC
low complexity region	959	980	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167197
AA Change: T121A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126788
Gene: ENSMUSG00000060601
AA Change: T121A

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
ZnF_C4	75	148	5.81e-32	SMART
low complexity region	153	188	N/A	INTRINSIC
low complexity region	190	202	N/A	INTRINSIC
HOLI	258	417	2.08e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207737

Predicted Effect

probably benign
Transcript: ENSMUST00000208366
AA Change: T121A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000209017
AA Change: T50A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Homozygous null mutations cause altered lipid, cholesterol and glucose metabolism and may lead to elevated cartilage matrix catabolism and PGE2 production, lipid-laden uterus myocytes and Sertoli cells, impaired uterus contractility and parturition, and higher susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,308,875	M120L	probably benign	Het
6430573F11Rik	A	G	8: 36,505,575	K60E	probably damaging	Het
Abat	A	G	16: 8,578,302	T48A	probably damaging	Het
Abca8a	A	T	11: 110,078,808	I314N	probably damaging	Het
Abr	A	T	11: 76,461,329	V108D	probably damaging	Het
Adamts17	T	G	7: 67,075,309	L162V	probably damaging	Het
Adamts6	A	T	13: 104,297,391	K109N	probably damaging	Het
Ago3	A	G	4: 126,347,802	F68S	probably damaging	Het
Aifm3	T	C	16: 17,506,336		probably null	Het
Ankrd26	T	C	6: 118,535,143	E506G	probably benign	Het
Apaf1	A	G	10: 91,067,204	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,520,062	T1272K	probably benign	Het
Cars2	A	G	8: 11,537,304	V193A	probably benign	Het
Ccr8	A	T	9: 120,094,547	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,631,619	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,259,272	N127S	probably benign	Het
Ddx10	A	G	9: 53,238,077	S117P	probably damaging	Het
Dgkb	T	C	12: 38,139,495		probably null	Het
Dnah11	T	A	12: 117,952,538	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,954,895	D1530N	probably damaging	Het
Dock5	T	C	14: 67,757,191	T1807A	probably benign	Het
Drd3	C	T	16: 43,821,479	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,409,259	N941S	probably damaging	Het
Enpp3	T	C	10: 24,820,615	T141A	probably benign	Het
Esyt1	A	T	10: 128,520,697	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,606,257	V143D	probably damaging	Het
Fam170b	A	G	14: 32,835,379	D57G	probably benign	Het
Fam53c	T	C	18: 34,768,176	S49P	probably damaging	Het
Fbp1	G	A	13: 62,875,253	L77F	probably benign	Het
Gm10471	T	G	5: 26,085,747	E142A	probably benign	Het
Gm17093	A	G	14: 44,520,692	E110G		Het
Gm21976	G	T	13: 98,287,313		silent	Het
Golgb1	T	C	16: 36,913,616	I1075T	probably damaging	Het
Grip2	T	C	6: 91,777,410	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,717,728	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,366,584	F97Y	probably benign	Het
Itga8	T	C	2: 12,191,234	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,218,602	L466S	probably damaging	Het
Klc2	T	C	19: 5,111,836	D277G	probably benign	Het
Ktn1	A	G	14: 47,663,791	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,401,446	Y68N	probably damaging	Het
March10	G	T	11: 105,389,989	S490*	probably null	Het
Mterf1b	A	T	5: 4,196,437	Y26F	probably benign	Het
Myo18b	T	A	5: 112,858,480	I855F	probably benign	Het
Nek4	G	A	14: 30,953,958	M83I	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	T	C	5: 117,879,340	V256A	probably benign	Het
Olfr296-ps1	T	A	7: 86,562,109	*126K	probably null	Het
Olfr732	A	C	14: 50,281,359	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,305,914	R172G	probably damaging	Het
Parp14	A	G	16: 35,856,817	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,715,826	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,536,895	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,473,248	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,012,033	D746V	probably damaging	Het
Rnf214	A	C	9: 45,898,430		probably null	Het
Rtn4ip1	A	T	10: 43,946,419		probably null	Het
S1pr1	T	C	3: 115,711,920	R342G		Het
Serpina1f	T	C	12: 103,689,872	S366G	probably benign	Het
Sestd1	A	T	2: 77,212,364	M282K	probably benign	Het
Siglecf	T	G	7: 43,351,716	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,909,469	V410A	probably damaging	Het
Slc38a4	C	A	15: 97,019,803	D14Y	probably benign	Het
Slk	C	T	19: 47,622,309	T806M	probably damaging	Het
Slurp2	C	A	15: 74,743,400	V48F	possibly damaging	Het
Socs1	A	G	16: 10,784,778	S32P	possibly damaging	Het
Son	T	C	16: 91,658,169	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,366,445		probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tet2	T	C	3: 133,488,043	N210S	probably benign	Het
Tkfc	T	C	19: 10,593,336	D492G	probably damaging	Het
Tmc7	G	A	7: 118,561,005	P203L	probably benign	Het
Tshz2	C	A	2: 169,884,604	F373L	probably damaging	Het
Ttc29	T	A	8: 78,315,707	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,548,833	M1I	probably null	Het
Vmn1r62	T	A	7: 5,675,602	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,350,891	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,491,143	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,556,155	D419E	probably damaging	Het
Vps39	A	T	2: 120,344,206	Y98*	probably null	Het
Wisp2	C	T	2: 163,825,240	R54*	probably null	Het
Zdbf2	G	A	1: 63,308,003	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,298,807	E407G	probably benign	Het
Zfp407	A	G	18: 84,558,932	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,879,361	K619E	possibly damaging	Het
Zfp811	A	T	17: 32,798,648	N139K	probably benign	Het

Other mutations in Nr1h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02211:Nr1h2	APN	7	44550460	missense	probably damaging	1.00
IGL02327:Nr1h2	APN	7	44551500	unclassified	probably benign
bisogno	UTSW	7	44550013	missense	probably damaging	1.00
pickens	UTSW	7	44550322	missense	possibly damaging	0.65
quiero	UTSW	7	44552537	missense	probably benign	0.27
R0179:Nr1h2	UTSW	7	44552265	splice site	probably null
R0433:Nr1h2	UTSW	7	44549987	makesense	probably null
R0597:Nr1h2	UTSW	7	44552260	intron	probably benign
R2432:Nr1h2	UTSW	7	44551367	missense	possibly damaging	0.46
R4635:Nr1h2	UTSW	7	44552537	missense	probably benign	0.27
R4662:Nr1h2	UTSW	7	44550431	missense	probably damaging	1.00
R4675:Nr1h2	UTSW	7	44552555	missense	possibly damaging	0.66
R4782:Nr1h2	UTSW	7	44550499	missense	possibly damaging	0.93
R5064:Nr1h2	UTSW	7	44551649	missense	possibly damaging	0.82
R5191:Nr1h2	UTSW	7	44550416	missense	probably damaging	1.00
R6266:Nr1h2	UTSW	7	44552052	nonsense	probably null
R6933:Nr1h2	UTSW	7	44550013	missense	probably damaging	1.00
R7323:Nr1h2	UTSW	7	44550322	missense	possibly damaging	0.65
R7577:Nr1h2	UTSW	7	44550792	missense	probably damaging	1.00
R8099:Nr1h2	UTSW	7	44550322	missense	possibly damaging	0.65
R8431:Nr1h2	UTSW	7	44550343	missense	probably damaging	1.00
R8754:Nr1h2	UTSW	7	44551344	missense	probably damaging	0.98
R9079:Nr1h2	UTSW	7	44550006	missense	possibly damaging	0.94
Z1177:Nr1h2	UTSW	7	44551453	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAACTAACTGCTGGATCATC -3'
(R):5'- TTAGAGCCAGAGGATGAGCC -3'

Sequencing Primer
(F):5'- CTGGATCATCAGCTCCTGAG -3'
(R):5'- TTCCACTACAACGTGCTC -3'

Posted On

2021-08-31