Mutagenetix > Incidental Mutation

Incidental Mutation 'R0433:Nr1h2'

212543

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

038635-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R0433 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44199040-44203375 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 44199411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 365 (*365Q)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049343] [ENSMUST00000073488] [ENSMUST00000107910] [ENSMUST00000107911] [ENSMUST00000107912] [ENSMUST00000167197] [ENSMUST00000142298] [ENSMUST00000207737] [ENSMUST00000208366] [ENSMUST00000128600] [ENSMUST00000151793] [ENSMUST00000145956] [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 null
Transcript: ENSMUST00000073488
AA Change: *447Q

SMART Domains

Protein: ENSMUSP00000073188
Gene: ENSMUSG00000060601
AA Change: *447Q

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 null
Transcript: ENSMUST00000107910
AA Change: *444Q

SMART Domains

Protein: ENSMUSP00000103543
Gene: ENSMUSG00000060601
AA Change: *444Q

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 null
Transcript: ENSMUST00000107911
AA Change: *444Q

SMART Domains

Protein: ENSMUSP00000103544
Gene: ENSMUSG00000060601
AA Change: *444Q

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 null
Transcript: ENSMUST00000107912
AA Change: *447Q

SMART Domains

Protein: ENSMUSP00000103545
Gene: ENSMUSG00000060601
AA Change: *447Q

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

probably null
Transcript: ENSMUST00000167197
AA Change: *447Q

SMART Domains

Protein: ENSMUSP00000126788
Gene: ENSMUSG00000060601
AA Change: *447Q

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 null
Transcript: ENSMUST00000208322
AA Change: *365Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137674

Predicted Effect

probably benign
Transcript: ENSMUST00000142298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141901

Predicted Effect

probably benign
Transcript: ENSMUST00000207737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132769

Predicted Effect

probably benign
Transcript: ENSMUST00000208366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136611

Predicted Effect

probably benign
Transcript: ENSMUST00000128600

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: 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

noncoding transcript
Transcript: ENSMUST00000208368

Predicted Effect

probably benign
Transcript: ENSMUST00000209017

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

99% (108/109)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,636 (GRCm39)	V199A	possibly damaging	Het
Abcb5	T	C	12: 118,841,545 (GRCm39)	M967V	probably benign	Het
Adcy10	T	A	1: 165,379,591 (GRCm39)	L951Q	probably damaging	Het
Amer2	A	T	14: 60,616,032 (GRCm39)	S76C	probably damaging	Het
Atad1	T	C	19: 32,675,877 (GRCm39)	I182M	probably benign	Het
Bpi	A	G	2: 158,100,339 (GRCm39)	D42G	probably damaging	Het
C7	G	T	15: 5,018,398 (GRCm39)	T815K	probably damaging	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Camk1g	A	G	1: 193,036,366 (GRCm39)	F165L	probably damaging	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccser2	A	C	14: 36,640,486 (GRCm39)	F37L	probably damaging	Het
Cfap43	A	G	19: 47,814,210 (GRCm39)	F208S	probably benign	Het
Cfap54	G	A	10: 92,814,942 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,699,853 (GRCm39)	D62E	probably damaging	Het
Cnksr2	A	T	X: 156,671,554 (GRCm39)	M483K	probably benign	Het
Cnksr2	C	A	X: 156,671,553 (GRCm39)	M483I	probably benign	Het
Cog8	T	C	8: 107,783,110 (GRCm39)	S60G	possibly damaging	Het
Col4a3	C	T	1: 82,647,940 (GRCm39)	P484S	unknown	Het
Col6a4	C	T	9: 105,945,193 (GRCm39)	G974R	probably damaging	Het
Cplane1	T	C	15: 8,246,046 (GRCm39)	S1473P	probably benign	Het
Dbnl	T	G	11: 5,746,825 (GRCm39)		probably null	Het
Dhcr7	T	C	7: 143,394,200 (GRCm39)	C114R	possibly damaging	Het
Dnah2	C	A	11: 69,350,114 (GRCm39)	D2340Y	probably damaging	Het
Dnai4	T	C	4: 102,960,450 (GRCm39)	N67D	probably benign	Het
Dusp10	T	A	1: 183,801,393 (GRCm39)	Y387N	probably damaging	Het
Eipr1	C	T	12: 28,909,330 (GRCm39)	T199I	possibly damaging	Het
Emc2	T	G	15: 43,360,520 (GRCm39)		probably null	Het
Enpp3	A	G	10: 24,696,495 (GRCm39)	S147P	probably benign	Het
Fam133b	T	A	5: 3,608,560 (GRCm39)		probably benign	Het
Fat1	C	A	8: 45,477,686 (GRCm39)	T2244K	possibly damaging	Het
Fbn1	A	G	2: 125,190,135 (GRCm39)	S1453P	possibly damaging	Het
Fez2	A	T	17: 78,725,476 (GRCm39)	F13I	probably damaging	Het
Ggnbp2	T	C	11: 84,727,246 (GRCm39)	K530R	probably damaging	Het
Gpa33	T	C	1: 165,991,330 (GRCm39)		probably benign	Het
Gpr142	T	C	11: 114,696,823 (GRCm39)	I123T	probably damaging	Het
Il21	T	G	3: 37,286,684 (GRCm39)	I11L	possibly damaging	Het
Klhl7	A	G	5: 24,332,700 (GRCm39)	E86G	probably damaging	Het
Klk10	G	T	7: 43,430,989 (GRCm39)	A11S	possibly damaging	Het
Knl1	A	T	2: 118,934,542 (GRCm39)	D2115V	probably damaging	Het
Lonp2	A	G	8: 87,360,582 (GRCm39)	D185G	probably damaging	Het
Lrrc47	T	C	4: 154,102,822 (GRCm39)		probably benign	Het
Lrrcc1	A	G	3: 14,624,434 (GRCm39)	I698V	probably damaging	Het
Lzts2	T	C	19: 45,010,115 (GRCm39)	V83A	possibly damaging	Het
Melk	C	A	4: 44,340,614 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,486 (GRCm39)	V150I	probably benign	Het
Morn3	C	A	5: 123,177,396 (GRCm39)	M129I	probably benign	Het
Mroh2b	T	A	15: 4,971,116 (GRCm39)	D1040E	probably benign	Het
Mroh5	T	C	15: 73,661,877 (GRCm39)	N438S	probably benign	Het
Mroh5	T	A	15: 73,662,657 (GRCm39)	Q387L	probably damaging	Het
Myh15	A	G	16: 48,965,599 (GRCm39)	D1168G	probably damaging	Het
Nek10	A	G	14: 14,860,927 (GRCm38)	E493G	probably benign	Het
Nipsnap3a	A	G	4: 53,000,316 (GRCm39)	Y227C	probably damaging	Het
Nlrp9c	T	A	7: 26,085,244 (GRCm39)	T112S	probably benign	Het
Nphp4	T	C	4: 152,602,629 (GRCm39)	V401A	probably benign	Het
Or13p5	T	C	4: 118,592,287 (GRCm39)	V187A	probably benign	Het
Or5p54	T	C	7: 107,554,469 (GRCm39)	I207T	probably damaging	Het
Pacs2	T	A	12: 113,020,464 (GRCm39)	V279D	possibly damaging	Het
Pdcd2	C	T	17: 15,746,646 (GRCm39)	C171Y	probably benign	Het
Pde11a	T	A	2: 76,168,050 (GRCm39)	D301V	possibly damaging	Het
Pfpl	T	G	19: 12,406,839 (GRCm39)	N363K	probably damaging	Het
Phf14	T	A	6: 11,933,742 (GRCm39)	S201R	probably damaging	Het
Pip4k2c	G	A	10: 127,044,815 (GRCm39)	P66S	probably benign	Het
Pou2f3	G	T	9: 43,038,693 (GRCm39)	H392N	probably benign	Het
Pou3f1	G	T	4: 124,552,697 (GRCm39)	G400C	probably damaging	Het
Ptprg	T	C	14: 12,220,620 (GRCm38)	I1219T	probably damaging	Het
Rfx6	A	G	10: 51,596,124 (GRCm39)	D435G	probably damaging	Het
Rhpn2	T	A	7: 35,084,899 (GRCm39)	S598T	probably benign	Het
Sdccag8	C	A	1: 176,672,387 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,362,279 (GRCm39)	Y43*	probably null	Het
Sele	T	C	1: 163,876,813 (GRCm39)	Y30H	possibly damaging	Het
Sgsm2	C	T	11: 74,749,016 (GRCm39)		probably null	Het
Slc45a2	T	C	15: 11,025,831 (GRCm39)	Y394H	probably benign	Het
Slc4a10	T	G	2: 62,120,327 (GRCm39)	I788S	probably benign	Het
Slmap	A	T	14: 26,174,749 (GRCm39)	L161*	probably null	Het
Slx4	A	T	16: 3,803,882 (GRCm39)	D977E	probably benign	Het
Spata31e5	A	T	1: 28,816,423 (GRCm39)	Y536*	probably null	Het
Spata31f3	A	G	4: 42,874,013 (GRCm39)		probably benign	Het
Spen	A	T	4: 141,211,069 (GRCm39)	M608K	unknown	Het
St8sia4	G	C	1: 95,519,429 (GRCm39)	T353R	probably damaging	Het
Stab2	G	T	10: 86,679,355 (GRCm39)		probably benign	Het
Stx12	C	T	4: 132,585,741 (GRCm39)	G213D	probably damaging	Het
Synj2	A	T	17: 6,084,123 (GRCm39)	N270Y	probably damaging	Het
Tdrd9	C	T	12: 111,992,015 (GRCm39)	R438*	probably null	Het
Tert	T	C	13: 73,775,200 (GRCm39)	Y18H	probably damaging	Het
Tph1	A	T	7: 46,303,245 (GRCm39)	F244L	probably damaging	Het
Triobp	T	C	15: 78,852,401 (GRCm39)	F852L	possibly damaging	Het
Trpv1	T	C	11: 73,143,834 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,312,741 (GRCm39)		probably null	Het
Ulk4	A	G	9: 120,873,885 (GRCm39)	I1182T	probably benign	Het
Uqcc1	A	G	2: 155,752,288 (GRCm39)	Y98H	probably damaging	Het
Usp25	A	G	16: 76,906,105 (GRCm39)	I854V	probably benign	Het
Usp50	T	C	2: 126,603,464 (GRCm39)	S361G	probably damaging	Het
Uspl1	C	A	5: 149,151,625 (GRCm39)	Q743K	probably damaging	Het
Vmn2r3	A	G	3: 64,183,054 (GRCm39)	V215A	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,335 (GRCm39)	H94L	probably benign	Het
Vps37c	T	C	19: 10,690,393 (GRCm39)	V285A	probably benign	Het
Vwa8	T	C	14: 79,300,116 (GRCm39)	V983A	probably damaging	Het
Zcchc9	C	T	13: 91,954,081 (GRCm39)	R58H	probably benign	Het
Zdbf2	T	C	1: 63,345,302 (GRCm39)	V1227A	possibly damaging	Het
Zfp292	T	C	4: 34,839,959 (GRCm39)	K64E	probably damaging	Het
Zfp948	A	G	17: 21,807,764 (GRCm39)	T319A	probably benign	Het
Zp3r	T	G	1: 130,504,870 (GRCm39)		probably benign	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
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
R5064:Nr1h2	UTSW	7	44,201,073 (GRCm39)	missense	possibly damaging	0.82
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'- TGACCCTCACCACTCTTGGAAGAC -3'
(R):5'- TCCTCTCCTACACGAGGATCAAGC -3'

Sequencing Primer
(F):5'- CCACTCTTGGAAGACTCAATGG -3'
(R):5'- GGCTTTCCAGACAAAGCTG -3'

Posted On

2014-07-09