Incidental Mutation 'R7577:Nr1h2'
ID 586503
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 045662-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # R7577 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44199040-44203375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44200216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 313 (T313M)
Ref Sequence ENSEMBL: ENSMUSP00000073188 (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

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 damaging
Transcript: ENSMUST00000073488
AA Change: T313M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073188
Gene: ENSMUSG00000060601
AA Change: T313M

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 damaging
Transcript: ENSMUST00000107910
AA Change: T310M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103543
Gene: ENSMUSG00000060601
AA Change: T310M

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 damaging
Transcript: ENSMUST00000107911
AA Change: T310M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103544
Gene: ENSMUSG00000060601
AA Change: T310M

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 damaging
Transcript: ENSMUST00000107912
AA Change: T313M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103545
Gene: ENSMUSG00000060601
AA Change: T313M

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 probably benign
Transcript: ENSMUST00000142298
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 damaging
Transcript: ENSMUST00000167197
AA Change: T313M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126788
Gene: ENSMUSG00000060601
AA Change: T313M

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: ENSMUST00000207737
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000208366
Predicted Effect probably benign
Transcript: ENSMUST00000209017
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik C T 10: 78,902,325 (GRCm39) V664M possibly damaging Het
Abca4 A G 3: 121,967,663 (GRCm39) T2238A probably damaging Het
Adss2 G A 1: 177,595,263 (GRCm39) Q426* probably null Het
Afap1l2 T C 19: 56,933,199 (GRCm39) E71G probably damaging Het
Afg1l T C 10: 42,194,607 (GRCm39) D395G probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Alms1 A G 6: 85,592,302 (GRCm39) T385A probably benign Het
Ank3 C T 10: 69,828,402 (GRCm39) T2357I Het
Ankfn1 T A 11: 89,394,797 (GRCm39) S263C probably benign Het
Atpsckmt C T 15: 31,606,186 (GRCm39) A48V probably damaging Het
Azin1 C T 15: 38,501,665 (GRCm39) V29I probably benign Het
B3galt2 T C 1: 143,523,042 (GRCm39) Y393H probably damaging Het
Cnbd2 G T 2: 156,170,296 (GRCm39) R127L possibly damaging Het
Col6a5 A T 9: 105,741,887 (GRCm39) L2344* probably null Het
Csn3 T C 5: 88,077,821 (GRCm39) V109A not run Het
Cxcr2 C G 1: 74,198,074 (GRCm39) N189K probably benign Het
Dclre1a A G 19: 56,517,965 (GRCm39) F1038S probably damaging Het
Ddx21 T C 10: 62,426,449 (GRCm39) Q468R probably benign Het
Dlx6 A G 6: 6,863,423 (GRCm39) D15G probably damaging Het
Dnajb14 T C 3: 137,610,558 (GRCm39) V262A possibly damaging Het
Dpp7 A G 2: 25,245,603 (GRCm39) V161A probably benign Het
Enkur C T 2: 21,209,913 (GRCm39) S16N probably benign Het
Ensa C A 3: 95,535,956 (GRCm39) H96Q probably damaging Het
Ero1b T G 13: 12,617,254 (GRCm39) C393G probably damaging Het
Fbxo3 T C 2: 103,881,543 (GRCm39) F292L possibly damaging Het
Fcgbpl1 A G 7: 27,853,848 (GRCm39) D1604G possibly damaging Het
Fos T C 12: 85,521,871 (GRCm39) S102P probably benign Het
Foxs1 C T 2: 152,774,361 (GRCm39) G231S probably benign Het
Furin T C 7: 80,046,734 (GRCm39) D174G probably damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Gm32687 T A 10: 81,716,023 (GRCm39) C472S probably damaging Het
Gmip A G 8: 70,267,085 (GRCm39) E327G probably benign Het
Gpld1 A G 13: 25,146,388 (GRCm39) T211A probably benign Het
Grin2d T C 7: 45,511,803 (GRCm39) H214R probably benign Het
Hfm1 T C 5: 107,043,909 (GRCm39) T576A probably benign Het
Hnrnpd A T 5: 100,115,113 (GRCm39) F142I probably damaging Het
Krt32 T A 11: 99,972,047 (GRCm39) T434S probably benign Het
Lct T G 1: 128,228,469 (GRCm39) D1008A probably damaging Het
Man1c1 A G 4: 134,291,814 (GRCm39) probably null Het
Marchf7 T A 2: 60,060,048 (GRCm39) C58* probably null Het
Mccc1 C T 3: 36,029,943 (GRCm39) probably null Het
Mybpc1 T A 10: 88,385,187 (GRCm39) D484V probably damaging Het
Myh10 T A 11: 68,636,806 (GRCm39) C227S unknown Het
Niban1 T A 1: 151,594,063 (GRCm39) V916E probably benign Het
Nin T C 12: 70,109,480 (GRCm39) E153G Het
Or4g7 T A 2: 111,309,477 (GRCm39) I116K probably damaging Het
Or5k15 G T 16: 58,709,629 (GRCm39) A318D probably benign Het
Otog C A 7: 45,937,279 (GRCm39) H1663N possibly damaging Het
Piezo2 G T 18: 63,186,081 (GRCm39) T1696K probably benign Het
Plcd1 A T 9: 118,901,322 (GRCm39) N703K possibly damaging Het
Plekhg4 T A 8: 106,102,031 (GRCm39) C7S probably benign Het
Pnma2 A G 14: 67,153,428 (GRCm39) probably benign Het
Potegl A G 2: 23,097,837 (GRCm39) Y5C probably benign Het
Prag1 A G 8: 36,614,096 (GRCm39) Y1216C probably damaging Het
Prima1 T C 12: 103,163,566 (GRCm39) Y135C probably damaging Het
Prkce C A 17: 86,800,721 (GRCm39) S379* probably null Het
Prmt7 A G 8: 106,968,835 (GRCm39) N383S probably damaging Het
Ptafr A G 4: 132,307,063 (GRCm39) Y151C probably damaging Het
Ptprn2 T C 12: 116,449,486 (GRCm39) M1T probably null Het
Rad23a A T 8: 85,565,108 (GRCm39) S136T probably benign Het
Rnf123 A T 9: 107,947,818 (GRCm39) Y137N probably damaging Het
Sfxn4 A C 19: 60,842,324 (GRCm39) I126S probably benign Het
Slc4a4 A G 5: 89,373,726 (GRCm39) H935R probably damaging Het
Slitrk3 T G 3: 72,958,448 (GRCm39) N108T probably damaging Het
Spred1 T A 2: 117,007,806 (GRCm39) H237Q probably benign Het
Syne1 T A 10: 5,074,820 (GRCm39) K1168N probably damaging Het
Syt14 T C 1: 192,665,885 (GRCm39) K340E unknown Het
Tespa1 T C 10: 130,190,624 (GRCm39) S84P probably damaging Het
Tmem268 G T 4: 63,480,681 (GRCm39) probably benign Het
Tmem52b T A 6: 129,493,040 (GRCm39) Y48* probably null Het
Tox2 C A 2: 163,157,822 (GRCm39) Y295* probably null Het
Trp53bp1 T G 2: 121,067,119 (GRCm39) T536P possibly damaging Het
Tysnd1 T C 10: 61,531,665 (GRCm39) C106R probably benign Het
Unc5d T C 8: 29,381,449 (GRCm39) I63V probably damaging Het
Vmn1r235 A G 17: 21,481,881 (GRCm39) N69D possibly damaging Het
Vps11 A T 9: 44,260,258 (GRCm39) M868K probably benign Het
Wipf3 A G 6: 54,462,509 (GRCm39) T240A possibly damaging Het
Xirp2 G A 2: 67,345,309 (GRCm39) E2517K possibly damaging Het
Ylpm1 T A 12: 85,043,994 (GRCm39) L244Q unknown Het
Zdhhc18 G T 4: 133,342,520 (GRCm39) S198* probably null Het
Zfp760 T A 17: 21,941,242 (GRCm39) L139* probably null Het
Other mutations in Nr1h2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GAGTGCCTCTTACACGATGC -3'
(R):5'- TTAAACCTCTAGCCTGGGCCTC -3'

Sequencing Primer
(F):5'- GATGCATCTGGCCTCGCTAAAC -3'
(R):5'- CTGGGCCTCACGGTAATGTG -3'
Posted On 2019-10-24