Incidental Mutation 'R8525:Olfr523'
ID 658766
Institutional Source Beutler Lab
Gene Symbol Olfr523
Ensembl Gene ENSMUSG00000051051
Gene Name olfactory receptor 523
Synonyms MOR104-4, GA_x6K02T2PBJ9-42327937-42328872
MMRRC Submission 067950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8525 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140173217-140178758 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140176342 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 74 (I74T)
Ref Sequence ENSEMBL: ENSMUSP00000149562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055890] [ENSMUST00000209314] [ENSMUST00000213953] [ENSMUST00000214272] [ENSMUST00000215785] [ENSMUST00000216023]
AlphaFold Q8VFE7
Predicted Effect probably damaging
Transcript: ENSMUST00000055890
AA Change: I80T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052678
Gene: ENSMUSG00000051051
AA Change: I80T

low complexity region 18 29 N/A INTRINSIC
Pfam:7tm_4 40 317 1.6e-50 PFAM
Pfam:7tm_1 50 299 1.6e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209314
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000213953
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000214272
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215785
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216023
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A T 7: 27,556,511 (GRCm38) N8Y possibly damaging Het
4932414N04Rik A T 2: 68,729,034 (GRCm38) D197V possibly damaging Het
Aar2 G A 2: 156,555,917 (GRCm38) R283Q probably benign Het
Acsf2 T A 11: 94,572,620 (GRCm38) I119F probably benign Het
Adamtsl1 C T 4: 86,277,010 (GRCm38) P572S probably damaging Het
Adh5 A T 3: 138,451,334 (GRCm38) I219F probably damaging Het
Arhgap23 T A 11: 97,490,084 (GRCm38) F1098I probably damaging Het
Bicc1 G T 10: 70,943,535 (GRCm38) H674Q possibly damaging Het
Ccdc39 C T 3: 33,814,704 (GRCm38) R786H probably benign Het
Ccr1l1 A G 9: 123,977,552 (GRCm38) I286T possibly damaging Het
Ccr9 T A 9: 123,779,667 (GRCm38) M138K probably benign Het
Dbh T C 2: 27,165,786 (GRCm38) F91L probably benign Het
Dip2a T A 10: 76,274,281 (GRCm38) probably null Het
Eif3j1 A G 2: 122,050,510 (GRCm38) I148V probably damaging Het
Etl4 A G 2: 20,530,081 (GRCm38) R116G probably damaging Het
Exoc6 C A 19: 37,608,992 (GRCm38) Q614K possibly damaging Het
Gabpb1 A G 2: 126,652,274 (GRCm38) S144P possibly damaging Het
Galnt13 G A 2: 55,060,476 (GRCm38) V390M possibly damaging Het
Gimap5 T C 6: 48,752,567 (GRCm38) S24P probably benign Het
Gm4778 A G 3: 94,266,555 (GRCm38) N290S probably benign Het
Gm4924 T A 10: 82,377,867 (GRCm38) probably benign Het
Gucy1a2 T A 9: 3,865,365 (GRCm38) I613K probably damaging Het
Hsp90ab1 T A 17: 45,569,800 (GRCm38) E115D probably benign Het
Hspg2 T C 4: 137,539,448 (GRCm38) V1949A probably damaging Het
Ice2 A G 9: 69,411,416 (GRCm38) Y294C probably damaging Het
Il17ra T G 6: 120,474,337 (GRCm38) Y157* probably null Het
Ipo13 T C 4: 117,904,929 (GRCm38) E416G probably damaging Het
Large1 C T 8: 72,837,492 (GRCm38) V549M probably damaging Het
Mmp17 A G 5: 129,602,207 (GRCm38) D390G probably damaging Het
Mrps10 T G 17: 47,372,446 (GRCm38) I102R probably damaging Het
Mycbp2 A G 14: 103,212,719 (GRCm38) L1712P probably damaging Het
Nipal2 A G 15: 34,584,669 (GRCm38) M251T probably damaging Het
Nup160 G A 2: 90,718,096 (GRCm38) probably null Het
Olfr201 A T 16: 59,269,208 (GRCm38) V153D probably benign Het
Pdcd11 G A 19: 47,092,898 (GRCm38) D34N possibly damaging Het
Pigb G T 9: 73,017,527 (GRCm38) P450Q probably damaging Het
Radil A C 5: 142,488,501 (GRCm38) L730R probably damaging Het
Rsbn1 G T 3: 103,914,222 (GRCm38) probably benign Het
Sec24b T C 3: 130,011,818 (GRCm38) D264G probably damaging Het
Shank3 C G 15: 89,547,770 (GRCm38) S906C probably damaging Het
Slc1a3 A G 15: 8,642,975 (GRCm38) V340A possibly damaging Het
Slc1a3 A T 15: 8,650,939 (GRCm38) I145N possibly damaging Het
Slc35f4 A T 14: 49,304,224 (GRCm38) S208T possibly damaging Het
Tmem132b A G 5: 125,638,316 (GRCm38) D363G probably benign Het
Tox3 T G 8: 90,274,681 (GRCm38) N34T probably damaging Het
Vmn1r231 T A 17: 20,889,739 (GRCm38) I305L probably benign Het
Vps18 A G 2: 119,290,230 (GRCm38) I57V possibly damaging Het
Zfhx4 T G 3: 5,399,543 (GRCm38) L1587R probably damaging Het
Zfp112 A G 7: 24,125,897 (GRCm38) N430S probably benign Het
Other mutations in Olfr523
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Olfr523 APN 7 140,176,615 (GRCm38) missense probably damaging 1.00
IGL01759:Olfr523 APN 7 140,176,534 (GRCm38) missense probably benign 0.00
D3080:Olfr523 UTSW 7 140,176,362 (GRCm38) missense possibly damaging 0.94
R0503:Olfr523 UTSW 7 140,176,441 (GRCm38) missense possibly damaging 0.95
R1644:Olfr523 UTSW 7 140,176,648 (GRCm38) missense probably benign 0.12
R1760:Olfr523 UTSW 7 140,176,275 (GRCm38) missense probably damaging 1.00
R1852:Olfr523 UTSW 7 140,176,561 (GRCm38) nonsense probably null
R1960:Olfr523 UTSW 7 140,176,683 (GRCm38) missense probably benign 0.37
R2363:Olfr523 UTSW 7 140,176,965 (GRCm38) missense probably damaging 1.00
R3700:Olfr523 UTSW 7 140,176,214 (GRCm38) missense possibly damaging 0.54
R4626:Olfr523 UTSW 7 140,176,446 (GRCm38) missense probably damaging 1.00
R4678:Olfr523 UTSW 7 140,176,228 (GRCm38) missense probably benign 0.21
R4779:Olfr523 UTSW 7 140,176,450 (GRCm38) missense probably damaging 1.00
R4999:Olfr523 UTSW 7 140,177,020 (GRCm38) missense probably damaging 1.00
R5663:Olfr523 UTSW 7 140,176,321 (GRCm38) missense probably damaging 1.00
R7352:Olfr523 UTSW 7 140,176,525 (GRCm38) missense probably damaging 1.00
R8976:Olfr523 UTSW 7 140,176,972 (GRCm38) missense probably damaging 0.96
R9034:Olfr523 UTSW 7 140,176,971 (GRCm38) missense probably benign 0.08
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-01-18