Incidental Mutation 'R8502:Or52a5'
ID 655370
Institutional Source Beutler Lab
Gene Symbol Or52a5
Ensembl Gene ENSMUSG00000061626
Gene Name olfactory receptor family 52 subfamily A member 5
Synonyms Olfr68, MOR22-3, GA_x6K02T2PBJ9-6504436-6503489, 3'[b]2
MMRRC Submission 067839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R8502 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103426603-103427550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103426968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 195 (I195V)
Ref Sequence ENSEMBL: ENSMUSP00000150493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072513] [ENSMUST00000216811]
AlphaFold E9PYY2
Predicted Effect probably benign
Transcript: ENSMUST00000072513
AA Change: I195V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072329
Gene: ENSMUSG00000061626
AA Change: I195V

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 3e-101 PFAM
Pfam:7TM_GPCR_Srx 34 237 4.5e-7 PFAM
Pfam:7TM_GPCR_Srsx 37 264 1.7e-6 PFAM
Pfam:7tm_1 43 295 2.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216811
AA Change: I195V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,219,282 (GRCm39) D405E probably benign Het
Abca6 T A 11: 110,110,145 (GRCm39) L599F probably damaging Het
Accs T C 2: 93,668,460 (GRCm39) Y337C probably damaging Het
Ahrr A T 13: 74,431,193 (GRCm39) Y10N probably damaging Het
Akap12 T G 10: 4,263,856 (GRCm39) D88E probably benign Het
Akr1c18 G A 13: 4,192,188 (GRCm39) R170C probably benign Het
Cgnl1 A G 9: 71,537,887 (GRCm39) V1211A probably damaging Het
Crlf2 T C 5: 109,704,917 (GRCm39) D98G probably benign Het
Cyp2c66 T A 19: 39,130,773 (GRCm39) M129K probably benign Het
Dennd4b T C 3: 90,181,165 (GRCm39) W774R probably damaging Het
Dhx9 T C 1: 153,335,210 (GRCm39) M932V probably benign Het
Dnah7a A G 1: 53,679,520 (GRCm39) S322P probably benign Het
Dst A G 1: 34,206,373 (GRCm39) D907G probably damaging Het
Hrh1 A G 6: 114,457,966 (GRCm39) K416E probably damaging Het
Ints6 G C 14: 62,998,028 (GRCm39) T27R possibly damaging Het
Krt10 C T 11: 99,278,359 (GRCm39) E267K probably damaging Het
Lama5 T C 2: 179,837,015 (GRCm39) N1074S probably damaging Het
Lrp2 C T 2: 69,344,585 (GRCm39) W844* probably null Het
N4bp2l2 T G 5: 150,585,821 (GRCm39) N53T probably benign Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nap1l1 T A 10: 111,317,162 (GRCm39) M1K probably null Het
Nbeal2 C T 9: 110,463,457 (GRCm39) S1258N possibly damaging Het
Osgin2 A T 4: 16,005,493 (GRCm39) V131D probably damaging Het
Pced1a T C 2: 130,265,577 (GRCm39) probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Prdm2 T C 4: 142,861,584 (GRCm39) I569V probably damaging Het
Prss42 T C 9: 110,629,984 (GRCm39) L246P probably damaging Het
Ptpra C A 2: 130,391,679 (GRCm39) D732E probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Rspo3 T C 10: 29,375,970 (GRCm39) T198A probably benign Het
Slc45a2 T C 15: 11,027,958 (GRCm39) I509T possibly damaging Het
Spag7 T C 11: 70,560,059 (GRCm39) S17G probably benign Het
Tcl1b2 T A 12: 105,113,367 (GRCm39) Y7N probably benign Het
Tmem198 G T 1: 75,459,353 (GRCm39) G103W probably damaging Het
Trim62 A G 4: 128,803,233 (GRCm39) I428V probably benign Het
Usp7 A T 16: 8,512,893 (GRCm39) probably null Het
Zan T A 5: 137,471,845 (GRCm39) T191S probably damaging Het
Zfat T C 15: 67,976,916 (GRCm39) T1078A probably benign Het
Other mutations in Or52a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Or52a5 APN 7 103,427,448 (GRCm39) missense probably benign
IGL03310:Or52a5 APN 7 103,426,634 (GRCm39) missense probably benign 0.04
R0135:Or52a5 UTSW 7 103,426,970 (GRCm39) missense probably damaging 0.99
R0462:Or52a5 UTSW 7 103,426,770 (GRCm39) missense probably benign 0.37
R0966:Or52a5 UTSW 7 103,426,656 (GRCm39) missense probably damaging 1.00
R1199:Or52a5 UTSW 7 103,427,192 (GRCm39) missense probably damaging 1.00
R1288:Or52a5 UTSW 7 103,427,249 (GRCm39) missense possibly damaging 0.94
R1597:Or52a5 UTSW 7 103,427,267 (GRCm39) missense probably benign
R4631:Or52a5 UTSW 7 103,426,682 (GRCm39) missense probably damaging 1.00
R4754:Or52a5 UTSW 7 103,426,875 (GRCm39) missense probably benign 0.00
R5184:Or52a5 UTSW 7 103,426,611 (GRCm39) missense probably benign 0.00
R5654:Or52a5 UTSW 7 103,427,182 (GRCm39) missense probably damaging 1.00
R7994:Or52a5 UTSW 7 103,426,607 (GRCm39) missense probably benign 0.05
R8026:Or52a5 UTSW 7 103,427,547 (GRCm39) missense probably benign
R8190:Or52a5 UTSW 7 103,426,802 (GRCm39) missense probably damaging 1.00
R8815:Or52a5 UTSW 7 103,427,063 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATGTGAGCCCCAAACCTGTG -3'
(R):5'- ATCGCTATGTGGCTATCTGC -3'

Sequencing Primer
(F):5'- CCCCAAACCTGTGTGTGAAG -3'
(R):5'- GTGGCTATCTGCAACCCC -3'
Posted On 2020-10-20