Mutagenetix > Incidental Mutation

Incidental Mutation 'R5064:Nr1h2'

388261

Institutional Source

Beutler Lab

Gene Symbol

Nr1h2

Ensembl Gene

ENSMUSG00000060601

Gene Name

nuclear receptor subfamily 1, group H, member 2

Synonyms

Unr2, LXRB, RIP15, LXRbeta

MMRRC Submission

042654-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R5064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44199040-44203375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44201073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 219 (A219V)

Ref Sequence

ENSEMBL: ENSMUSP00000126788 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000073488
AA Change: A219V

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073188
Gene: ENSMUSG00000060601
AA Change: A219V

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

possibly damaging
Transcript: ENSMUST00000107910
AA Change: A216V

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103543
Gene: ENSMUSG00000060601
AA Change: A216V

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

possibly damaging
Transcript: ENSMUST00000107911
AA Change: A216V

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103544
Gene: ENSMUSG00000060601
AA Change: A216V

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

possibly damaging
Transcript: ENSMUST00000107912
AA Change: A219V

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103545
Gene: ENSMUSG00000060601
AA Change: A219V

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

noncoding transcript
Transcript: ENSMUST00000123358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132769

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167197
AA Change: A219V

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126788
Gene: ENSMUSG00000060601
AA Change: A219V

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: ENSMUST00000208322
AA Change: A167V

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141901

Predicted Effect

probably benign
Transcript: ENSMUST00000142298

Predicted Effect

probably benign
Transcript: ENSMUST00000128600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136611

Predicted Effect

probably benign
Transcript: ENSMUST00000208366

Predicted Effect

probably benign
Transcript: ENSMUST00000207737

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: ENSMUST00000209017

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.1%

Validation Efficiency

100% (44/44)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,340,119 (GRCm39)	V1082A	probably damaging	Het
Adamts7	T	A	9: 90,077,883 (GRCm39)	Y1496N	probably damaging	Het
Ascl2	T	C	7: 142,521,996 (GRCm39)	N151D	possibly damaging	Het
Asxl3	G	T	18: 22,649,076 (GRCm39)	S355I	probably benign	Het
Cttnbp2	T	C	6: 18,448,278 (GRCm39)	Q127R	probably damaging	Het
Efhc1	T	A	1: 21,045,187 (GRCm39)	I401N	possibly damaging	Het
Eml6	C	T	11: 29,699,300 (GRCm39)	V1818I	probably benign	Het
Grin1	G	T	2: 25,193,843 (GRCm39)		probably benign	Het
Ints2	C	T	11: 86,140,100 (GRCm39)	R244H	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mllt6	C	A	11: 97,564,775 (GRCm39)	A527E	probably damaging	Het
Msh5	G	T	17: 35,262,759 (GRCm39)		probably benign	Het
Mypn	T	A	10: 62,959,150 (GRCm39)	D1057V	possibly damaging	Het
Nasp	A	G	4: 116,469,167 (GRCm39)		probably null	Het
Nat8l	T	C	5: 34,154,213 (GRCm39)	V9A	probably damaging	Het
Niban1	A	G	1: 151,565,410 (GRCm39)	I247V	probably benign	Het
Nup155	C	A	15: 8,165,354 (GRCm39)	H663Q	probably damaging	Het
Pikfyve	A	G	1: 65,292,566 (GRCm39)	Y1339C	probably damaging	Het
Plppr1	A	T	4: 49,319,974 (GRCm39)	H200L	probably benign	Het
Por	T	C	5: 135,762,649 (GRCm39)	V421A	probably benign	Het
Pxylp1	T	G	9: 96,736,853 (GRCm39)		probably benign	Het
Serpina3a	G	A	12: 104,082,448 (GRCm39)	V74I	probably benign	Het
Sfxn1	T	C	13: 54,239,588 (GRCm39)	I37T	probably benign	Het
Thsd7a	G	T	6: 12,330,951 (GRCm39)	T1397N	possibly damaging	Het
Tnrc6a	T	C	7: 122,785,946 (GRCm39)		probably null	Het
Vmn1r55	A	T	7: 5,149,928 (GRCm39)	M165K	probably benign	Het
Vmn2r58	A	T	7: 41,486,534 (GRCm39)	M787K	probably damaging	Het
Vta1	G	T	10: 14,581,222 (GRCm39)		probably benign	Het
Wdr87-ps	A	G	7: 29,235,080 (GRCm39)		noncoding transcript	Het
Zfp236	A	G	18: 82,709,701 (GRCm39)		probably null	Het

Other mutations in Nr1h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02211:Nr1h2	APN	7	44,199,884 (GRCm39)	missense	probably damaging	1.00
IGL02327:Nr1h2	APN	7	44,200,924 (GRCm39)	unclassified	probably benign
bisogno	UTSW	7	44,199,437 (GRCm39)	missense	probably damaging	1.00
pickens	UTSW	7	44,199,746 (GRCm39)	missense	possibly damaging	0.65
quiero	UTSW	7	44,201,961 (GRCm39)	missense	probably benign	0.27
R0179:Nr1h2	UTSW	7	44,201,689 (GRCm39)	splice site	probably null
R0433:Nr1h2	UTSW	7	44,199,411 (GRCm39)	makesense	probably null
R0597:Nr1h2	UTSW	7	44,201,684 (GRCm39)	intron	probably benign
R2432:Nr1h2	UTSW	7	44,200,791 (GRCm39)	missense	possibly damaging	0.46
R4635:Nr1h2	UTSW	7	44,201,961 (GRCm39)	missense	probably benign	0.27
R4662:Nr1h2	UTSW	7	44,199,855 (GRCm39)	missense	probably damaging	1.00
R4675:Nr1h2	UTSW	7	44,201,979 (GRCm39)	missense	possibly damaging	0.66
R4782:Nr1h2	UTSW	7	44,199,923 (GRCm39)	missense	possibly damaging	0.93
R5191:Nr1h2	UTSW	7	44,199,840 (GRCm39)	missense	probably damaging	1.00
R6266:Nr1h2	UTSW	7	44,201,476 (GRCm39)	nonsense	probably null
R6933:Nr1h2	UTSW	7	44,199,437 (GRCm39)	missense	probably damaging	1.00
R7323:Nr1h2	UTSW	7	44,199,746 (GRCm39)	missense	possibly damaging	0.65
R7577:Nr1h2	UTSW	7	44,200,216 (GRCm39)	missense	probably damaging	1.00
R8099:Nr1h2	UTSW	7	44,199,746 (GRCm39)	missense	possibly damaging	0.65
R8431:Nr1h2	UTSW	7	44,199,767 (GRCm39)	missense	probably damaging	1.00
R8754:Nr1h2	UTSW	7	44,200,768 (GRCm39)	missense	probably damaging	0.98
R8962:Nr1h2	UTSW	7	44,201,463 (GRCm39)	missense	probably benign	0.01
R9079:Nr1h2	UTSW	7	44,199,430 (GRCm39)	missense	possibly damaging	0.94
Z1177:Nr1h2	UTSW	7	44,200,877 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGGCTAGCTCGGTGAAG -3'
(R):5'- AGATGGATGCCTTCATGCG -3'

Sequencing Primer
(F):5'- TTGCTGACGGGCATCTCG -3'
(R):5'- TTCATGCGGCGCAAGTG -3'

Posted On

2016-06-06