Incidental Mutation 'R6582:Or52p1'
ID 524152
Institutional Source Beutler Lab
Gene Symbol Or52p1
Ensembl Gene ENSMUSG00000073924
Gene Name olfactory receptor family 52 subfamily P member 1
Synonyms MOR27-1, Olfr656, GA_x6K02T2PBJ9-7245486-7246451
MMRRC Submission 044706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104266864-104267853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104267648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 254 (Y254F)
Ref Sequence ENSEMBL: ENSMUSP00000149625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098172] [ENSMUST00000215575]
AlphaFold Q8VGX9
Predicted Effect probably damaging
Transcript: ENSMUST00000098172
AA Change: Y262F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095774
Gene: ENSMUSG00000073924
AA Change: Y262F

DomainStartEndE-ValueType
Pfam:7tm_4 41 319 5.2e-105 PFAM
Pfam:7TM_GPCR_Srsx 42 316 1.1e-8 PFAM
Pfam:7tm_1 51 302 4.9e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215575
AA Change: Y254F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Acsm3 A G 7: 119,378,896 (GRCm39) E426G probably benign Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Casp4 A G 9: 5,324,884 (GRCm39) Q232R probably benign Het
Cenpt A T 8: 106,575,833 (GRCm39) L171* probably null Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kcnj6 A G 16: 94,633,685 (GRCm39) V142A possibly damaging Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mbd3l1 T C 9: 18,396,024 (GRCm39) Y50H probably benign Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Neto1 A T 18: 86,512,985 (GRCm39) K327* probably null Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Pidd1 A T 7: 141,019,494 (GRCm39) V722D probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Smarca5 G A 8: 81,446,281 (GRCm39) T473I probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Vsnl1 A G 12: 11,376,489 (GRCm39) V132A probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Other mutations in Or52p1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Or52p1 APN 7 104,266,928 (GRCm39) missense probably damaging 0.98
IGL01908:Or52p1 APN 7 104,266,906 (GRCm39) missense probably damaging 1.00
IGL02695:Or52p1 APN 7 104,267,678 (GRCm39) missense probably damaging 1.00
IGL03055:Or52p1 UTSW 7 104,267,413 (GRCm39) missense probably damaging 1.00
R0128:Or52p1 UTSW 7 104,267,788 (GRCm39) missense probably damaging 1.00
R0184:Or52p1 UTSW 7 104,267,447 (GRCm39) missense probably damaging 1.00
R4674:Or52p1 UTSW 7 104,267,631 (GRCm39) nonsense probably null
R4675:Or52p1 UTSW 7 104,267,631 (GRCm39) nonsense probably null
R4723:Or52p1 UTSW 7 104,267,696 (GRCm39) missense possibly damaging 0.56
R4979:Or52p1 UTSW 7 104,267,812 (GRCm39) missense probably null 0.03
R6273:Or52p1 UTSW 7 104,267,102 (GRCm39) missense probably damaging 1.00
R6359:Or52p1 UTSW 7 104,267,510 (GRCm39) missense probably damaging 1.00
R6750:Or52p1 UTSW 7 104,267,320 (GRCm39) missense probably damaging 0.99
R7426:Or52p1 UTSW 7 104,267,059 (GRCm39) missense probably damaging 1.00
R7786:Or52p1 UTSW 7 104,266,925 (GRCm39) missense probably benign 0.02
R8068:Or52p1 UTSW 7 104,267,460 (GRCm39) nonsense probably null
R8324:Or52p1 UTSW 7 104,267,321 (GRCm39) missense probably benign 0.00
R8486:Or52p1 UTSW 7 104,267,069 (GRCm39) missense possibly damaging 0.47
R8828:Or52p1 UTSW 7 104,267,486 (GRCm39) missense probably damaging 1.00
R8933:Or52p1 UTSW 7 104,266,873 (GRCm39) missense probably benign 0.05
R8971:Or52p1 UTSW 7 104,267,467 (GRCm39) missense probably damaging 1.00
R9329:Or52p1 UTSW 7 104,267,705 (GRCm39) missense probably damaging 1.00
X0065:Or52p1 UTSW 7 104,266,965 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATATGGCTGTGGTGAAGC -3'
(R):5'- AGATATCTTGAGCCTTGTTCCC -3'

Sequencing Primer
(F):5'- CACCAGACCTAATCGTGTGTATGG -3'
(R):5'- CTGTCCCCACTGAAACACCTTG -3'
Posted On 2018-06-22