Incidental Mutation 'IGL03103:Nr1h3'
ID 418835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr1h3
Ensembl Gene ENSMUSG00000002108
Gene Name nuclear receptor subfamily 1, group H, member 3
Synonyms Unr1, LXR alpha
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03103
Quality Score
Status
Chromosome 2
Chromosomal Location 91014406-91033179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91022360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 89 (K89N)
Ref Sequence ENSEMBL: ENSMUSP00000106988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002177] [ENSMUST00000111354] [ENSMUST00000111355] [ENSMUST00000111356]
AlphaFold Q9Z0Y9
Predicted Effect probably damaging
Transcript: ENSMUST00000002177
AA Change: K89N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002177
Gene: ENSMUSG00000002108
AA Change: K89N

DomainStartEndE-ValueType
ZnF_C4 93 164 1e-35 SMART
low complexity region 189 209 N/A INTRINSIC
HOLI 257 416 1.84e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111354
AA Change: K89N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106986
Gene: ENSMUSG00000002108
AA Change: K89N

DomainStartEndE-ValueType
ZnF_C4 93 164 1e-35 SMART
low complexity region 189 209 N/A INTRINSIC
HOLI 257 416 1.84e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111355
AA Change: K89N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106987
Gene: ENSMUSG00000002108
AA Change: K89N

DomainStartEndE-ValueType
ZnF_C4 93 164 1e-35 SMART
HOLI 202 356 3.76e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111356
AA Change: K89N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106988
Gene: ENSMUSG00000002108
AA Change: K89N

DomainStartEndE-ValueType
ZnF_C4 93 164 1e-35 SMART
low complexity region 189 209 N/A INTRINSIC
HOLI 257 416 1.84e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136234
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased male fertility, increased suseceptibility to bacterial infection, and diet-sensitive increase in liver size, steatosis, and cholesterol level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc27 A T 11: 104,403,806 (GRCm39) F652Y probably benign Het
Cntn5 T C 9: 9,972,817 (GRCm39) probably benign Het
Ctsc A G 7: 87,959,013 (GRCm39) N431S probably benign Het
Ddi2 A G 4: 141,430,479 (GRCm39) M235T probably damaging Het
Dgkg G A 16: 22,399,275 (GRCm39) P220S probably damaging Het
Gpr180 A T 14: 118,377,175 (GRCm39) I59F possibly damaging Het
Haspin A T 11: 73,027,526 (GRCm39) V521D probably damaging Het
Itprid1 A G 6: 55,945,144 (GRCm39) T622A possibly damaging Het
Kif16b G T 2: 142,704,408 (GRCm39) T57N probably damaging Het
Lmbr1 A G 5: 29,440,014 (GRCm39) F422S probably damaging Het
Lpcat2b A T 5: 107,581,414 (GRCm39) N248Y probably damaging Het
Lrch3 T C 16: 32,772,507 (GRCm39) V163A probably damaging Het
Lrrc49 A G 9: 60,592,316 (GRCm39) probably null Het
Mon2 T A 10: 122,866,008 (GRCm39) probably benign Het
Mroh4 T C 15: 74,488,008 (GRCm39) S374G possibly damaging Het
Or4c29 A T 2: 88,740,522 (GRCm39) S72T probably benign Het
Or52w1 A G 7: 105,017,785 (GRCm39) D75G probably damaging Het
Or8b49 A G 9: 38,505,823 (GRCm39) Y102C probably damaging Het
Phldb3 C T 7: 24,323,601 (GRCm39) P445L possibly damaging Het
Pstpip1 G T 9: 56,021,592 (GRCm39) V39L possibly damaging Het
Sbf1 A T 15: 89,178,150 (GRCm39) L1560Q probably damaging Het
Sco1 C T 11: 66,946,568 (GRCm39) Q114* probably null Het
Slc29a4 A G 5: 142,697,835 (GRCm39) H96R probably damaging Het
Slitrk6 A G 14: 110,987,373 (GRCm39) L778P probably benign Het
Tas2r110 A G 6: 132,845,443 (GRCm39) Q158R probably benign Het
Tle3 A G 9: 61,300,524 (GRCm39) I92V possibly damaging Het
Ttn T A 2: 76,579,266 (GRCm39) M15549L possibly damaging Het
Urb2 T G 8: 124,756,491 (GRCm39) S733A probably benign Het
Vcl T C 14: 21,074,348 (GRCm39) W912R probably damaging Het
Other mutations in Nr1h3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Nr1h3 APN 2 91,020,544 (GRCm39) missense probably damaging 1.00
IGL02198:Nr1h3 APN 2 91,023,070 (GRCm39) missense probably damaging 1.00
IGL02992:Nr1h3 APN 2 91,020,911 (GRCm39) missense probably damaging 1.00
R0302:Nr1h3 UTSW 2 91,022,358 (GRCm39) missense probably damaging 0.98
R0350:Nr1h3 UTSW 2 91,022,170 (GRCm39) missense possibly damaging 0.68
R2397:Nr1h3 UTSW 2 91,022,202 (GRCm39) missense possibly damaging 0.81
R2439:Nr1h3 UTSW 2 91,020,565 (GRCm39) missense probably benign 0.45
R2988:Nr1h3 UTSW 2 91,015,349 (GRCm39) missense probably damaging 0.96
R3431:Nr1h3 UTSW 2 91,022,205 (GRCm39) missense probably damaging 1.00
R4842:Nr1h3 UTSW 2 91,020,563 (GRCm39) missense probably benign 0.09
R5355:Nr1h3 UTSW 2 91,022,253 (GRCm39) missense possibly damaging 0.67
R6137:Nr1h3 UTSW 2 91,022,196 (GRCm39) missense probably damaging 1.00
R6982:Nr1h3 UTSW 2 91,021,104 (GRCm39) missense probably damaging 0.98
R7380:Nr1h3 UTSW 2 91,020,540 (GRCm39) missense possibly damaging 0.83
R7531:Nr1h3 UTSW 2 91,014,739 (GRCm39) missense probably damaging 1.00
R7753:Nr1h3 UTSW 2 91,015,370 (GRCm39) missense probably damaging 1.00
R7980:Nr1h3 UTSW 2 91,021,229 (GRCm39) missense probably benign 0.03
R8831:Nr1h3 UTSW 2 91,021,091 (GRCm39) missense probably benign 0.27
R8861:Nr1h3 UTSW 2 91,024,026 (GRCm39) start gained probably benign
Posted On 2016-08-02