Incidental Mutation 'IGL02327:Nr1h2'
ID 288543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr1h2
Ensembl Gene ENSMUSG00000060601
Gene Name nuclear receptor subfamily 1, group H, member 2
Synonyms Unr2, LXRB, RIP15, LXRbeta
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # IGL02327
Quality Score
Status
Chromosome 7
Chromosomal Location 44199040-44203375 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 44200924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049343] [ENSMUST00000073488] [ENSMUST00000107910] [ENSMUST00000107911] [ENSMUST00000107912] [ENSMUST00000167197] [ENSMUST00000128600] [ENSMUST00000142298] [ENSMUST00000145956] [ENSMUST00000151793] [ENSMUST00000207737] [ENSMUST00000209017] [ENSMUST00000208366]
AlphaFold Q60644
Predicted Effect probably benign
Transcript: ENSMUST00000049343
SMART Domains Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000073188
Gene: ENSMUSG00000060601

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000103543
Gene: ENSMUSG00000060601

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000103544
Gene: ENSMUSG00000060601

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000103545
Gene: ENSMUSG00000060601

DomainStartEndE-ValueType
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: ENSMUST00000137674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128354
Predicted Effect probably benign
Transcript: ENSMUST00000167197
SMART Domains Protein: ENSMUSP00000126788
Gene: ENSMUSG00000060601

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000141901
Predicted Effect probably benign
Transcript: ENSMUST00000142298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138746
Predicted Effect probably benign
Transcript: ENSMUST00000145956
SMART Domains Protein: ENSMUSP00000117844
Gene: ENSMUSG00000038644

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000207737
Predicted Effect probably benign
Transcript: ENSMUST00000208322
Predicted Effect probably benign
Transcript: ENSMUST00000209017
Predicted Effect probably benign
Transcript: ENSMUST00000208366
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,849 (GRCm39) C29S probably damaging Het
Ccdc66 G A 14: 27,215,343 (GRCm39) A399V probably damaging Het
Ccl12 A G 11: 81,993,948 (GRCm39) I68M possibly damaging Het
Cd244a T C 1: 171,386,909 (GRCm39) V6A probably benign Het
Cfap97 T A 8: 46,623,179 (GRCm39) S190T probably damaging Het
Chic2 G T 5: 75,187,741 (GRCm39) C106* probably null Het
Ctdsp2 G A 10: 126,832,251 (GRCm39) D237N probably benign Het
Cyp2a22 A T 7: 26,634,206 (GRCm39) M316K probably damaging Het
Cyp3a25 A G 5: 145,923,731 (GRCm39) F304S possibly damaging Het
Ddc A T 11: 11,813,739 (GRCm39) V209D probably damaging Het
Dhx16 A G 17: 36,194,717 (GRCm39) K446R probably benign Het
Fgd3 T C 13: 49,439,274 (GRCm39) K241E probably damaging Het
Hps1 G T 19: 42,744,784 (GRCm39) probably benign Het
Inpp4b C T 8: 82,768,591 (GRCm39) T700I probably benign Het
Kremen2 T A 17: 23,962,543 (GRCm39) M157L probably benign Het
Lrwd1 T C 5: 136,152,318 (GRCm39) Y582C probably damaging Het
Macf1 T A 4: 123,365,523 (GRCm39) R1514S probably benign Het
Mex3c T A 18: 73,723,781 (GRCm39) C625S probably damaging Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Ncf2 A T 1: 152,692,744 (GRCm39) Y87F possibly damaging Het
Neo1 T C 9: 58,810,371 (GRCm39) T1027A probably benign Het
Nfkbib G T 7: 28,458,568 (GRCm39) P347Q probably benign Het
Or1e25 A T 11: 73,493,981 (GRCm39) T192S probably damaging Het
Or2t43 T A 11: 58,457,761 (GRCm39) R137W probably damaging Het
Or9m2 A T 2: 87,820,601 (GRCm39) I49F probably damaging Het
Oxct1 A G 15: 4,066,571 (GRCm39) probably null Het
Pak1ip1 T G 13: 41,165,893 (GRCm39) N308K probably benign Het
Prpf38a T C 4: 108,425,607 (GRCm39) R224G unknown Het
Scfd1 T C 12: 51,436,100 (GRCm39) V83A possibly damaging Het
Tmem131 C T 1: 36,838,103 (GRCm39) G1545D probably damaging Het
Trav13n-4 A T 14: 53,601,567 (GRCm39) probably benign Het
Ttc3 A G 16: 94,248,967 (GRCm39) D1155G probably damaging Het
Unc80 G A 1: 66,680,832 (GRCm39) V2143I probably benign Het
Vmn2r16 T C 5: 109,487,987 (GRCm39) Y287H probably benign Het
Vmn2r59 A G 7: 41,661,655 (GRCm39) V720A probably benign Het
Wars1 T A 12: 108,832,227 (GRCm39) probably null Het
Wdcp A G 12: 4,901,115 (GRCm39) K324E possibly damaging Het
Wdfy3 A T 5: 102,036,058 (GRCm39) L2105H probably damaging Het
Xirp2 A T 2: 67,340,444 (GRCm39) D895V probably damaging Het
Zscan10 A T 17: 23,826,546 (GRCm39) probably benign Het
Other mutations in Nr1h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02211:Nr1h2 APN 7 44,199,884 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2015-04-16