Incidental Mutation 'IGL02198:Nr1h3'
ID 284130
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 # IGL02198
Quality Score
Status
Chromosome 2
Chromosomal Location 91014406-91033179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91023070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 21 (W21R)
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: W21R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002177
Gene: ENSMUSG00000002108
AA Change: W21R

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: W21R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106986
Gene: ENSMUSG00000002108
AA Change: W21R

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: W21R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106987
Gene: ENSMUSG00000002108
AA Change: W21R

DomainStartEndE-ValueType
ZnF_C4 93 164 1e-35 SMART
HOLI 202 356 3.76e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111356
AA Change: W21R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106988
Gene: ENSMUSG00000002108
AA Change: W21R

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: ENSMUST00000136234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150654
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,388,412 (GRCm39) I381T probably damaging Het
Armt1 T A 10: 4,404,064 (GRCm39) F383Y possibly damaging Het
Cdca2 A G 14: 67,932,445 (GRCm39) V486A probably benign Het
Cep78 A G 19: 15,933,733 (GRCm39) L615S probably damaging Het
Clec2h C A 6: 128,650,979 (GRCm39) C86* probably null Het
Cntnap5a C T 1: 116,508,262 (GRCm39) T1258I probably benign Het
Dhrs7c T A 11: 67,706,628 (GRCm39) M262K possibly damaging Het
Dmpk C A 7: 18,822,117 (GRCm39) F332L probably damaging Het
Dnaaf4 G A 9: 72,876,348 (GRCm39) V308I probably benign Het
Fap A G 2: 62,385,142 (GRCm39) F73L probably benign Het
Igsf10 A T 3: 59,233,399 (GRCm39) I1778N possibly damaging Het
Il6ra T C 3: 89,797,655 (GRCm39) T71A probably benign Het
Itpr2 C A 6: 146,224,725 (GRCm39) A1389S probably damaging Het
Mob3b T C 4: 35,083,983 (GRCm39) N69D probably damaging Het
Or4f56 A T 2: 111,703,593 (GRCm39) N202K probably damaging Het
Ovca2 A G 11: 75,069,596 (GRCm39) V9A possibly damaging Het
Ovch2 T A 7: 107,394,041 (GRCm39) K137N probably damaging Het
Pabpc1l A G 2: 163,869,536 (GRCm39) N112S probably damaging Het
Plekho1 T A 3: 95,899,496 (GRCm39) N99I probably damaging Het
Recql5 A C 11: 115,785,499 (GRCm39) S666A probably benign Het
Scn3a G T 2: 65,338,833 (GRCm39) H615Q probably benign Het
Sel1l3 A G 5: 53,297,141 (GRCm39) probably benign Het
Slc38a2 A T 15: 96,590,258 (GRCm39) S328T probably damaging Het
Taok1 T C 11: 77,466,503 (GRCm39) probably benign Het
Tsnax T A 8: 125,759,451 (GRCm39) Y237* probably null Het
Ttn T A 2: 76,544,974 (GRCm39) K24382N probably damaging Het
Ugt1a9 T A 1: 87,999,165 (GRCm39) V205E possibly damaging Het
Unc80 C A 1: 66,569,145 (GRCm39) D933E possibly damaging Het
Vnn1 A T 10: 23,779,323 (GRCm39) T411S probably benign Het
Wdr27 C A 17: 15,128,860 (GRCm39) G531V possibly damaging Het
Zfp760 G T 17: 21,941,193 (GRCm39) V123L probably benign Het
Other mutations in Nr1h3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Nr1h3 APN 2 91,020,544 (GRCm39) missense probably damaging 1.00
IGL02992:Nr1h3 APN 2 91,020,911 (GRCm39) missense probably damaging 1.00
IGL03103:Nr1h3 APN 2 91,022,360 (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 2015-04-16