Incidental Mutation 'R8791:Or5p50'
ID 670944
Institutional Source Beutler Lab
Gene Symbol Or5p50
Ensembl Gene ENSMUSG00000095910
Gene Name olfactory receptor family 5 subfamily P member 50
Synonyms MOR204-21, GA_x6K02T2PBJ9-10152980-10152036, Olfr469
MMRRC Submission 068609-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R8791 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 107421730-107422674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107422557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 40 (V40M)
Ref Sequence ENSEMBL: ENSMUSP00000150486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075704] [ENSMUST00000213252]
AlphaFold Q8VF66
Predicted Effect possibly damaging
Transcript: ENSMUST00000075704
AA Change: V40M

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075122
Gene: ENSMUSG00000095910
AA Change: V40M

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.3e-53 PFAM
Pfam:7tm_1 44 293 2.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213252
AA Change: V40M

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik G T 2: 103,823,022 (GRCm39) T87K possibly damaging Het
Adar G A 3: 89,643,445 (GRCm39) R442Q probably benign Het
Agtr1b T A 3: 20,370,280 (GRCm39) S109C probably damaging Het
Akr1c6 T A 13: 4,499,373 (GRCm39) Y248N probably benign Het
Alpk2 A T 18: 65,438,597 (GRCm39) V932E probably benign Het
Apba3 T A 10: 81,105,104 (GRCm39) S126T probably benign Het
Brca2 T A 5: 150,466,061 (GRCm39) S1942T possibly damaging Het
Ccdc149 C T 5: 52,596,552 (GRCm39) C20Y probably damaging Het
Cd63 C A 10: 128,748,071 (GRCm39) N156K probably benign Het
Clvs1 A G 4: 9,429,807 (GRCm39) E270G probably damaging Het
Cplane1 A G 15: 8,216,744 (GRCm39) Y654C probably damaging Het
Dgki A T 6: 36,996,875 (GRCm39) D574E probably damaging Het
Esrrb A G 12: 86,517,056 (GRCm39) S63G probably damaging Het
Exoc1 C T 5: 76,683,412 (GRCm39) R46C probably damaging Het
Fcgr4 C A 1: 170,847,477 (GRCm39) A25D probably damaging Het
Fgf4 T C 7: 144,415,408 (GRCm39) V56A probably benign Het
Gfpt2 A G 11: 49,714,043 (GRCm39) I267V probably benign Het
Gm20939 A C 17: 95,184,648 (GRCm39) H432P probably damaging Het
Gpr179 A T 11: 97,242,739 (GRCm39) L35Q probably damaging Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Ildr1 T C 16: 36,528,762 (GRCm39) I69T probably damaging Het
Lrfn1 A G 7: 28,159,344 (GRCm39) D421G probably benign Het
Mmp15 C T 8: 96,096,288 (GRCm39) Q360* probably null Het
Nfatc2 T C 2: 168,378,214 (GRCm39) K484E probably damaging Het
Nkpd1 G C 7: 19,258,095 (GRCm39) V625L probably benign Het
Nlrp4a C A 7: 26,143,561 (GRCm39) probably benign Het
Nme9 T A 9: 99,350,301 (GRCm39) I178N probably damaging Het
Nrp2 C T 1: 62,788,356 (GRCm39) T352I probably damaging Het
Ntrk1 T C 3: 87,686,990 (GRCm39) I723V probably damaging Het
Pias3 C A 3: 96,612,201 (GRCm39) Q553K probably benign Het
Pnp2 T G 14: 51,200,873 (GRCm39) H119Q probably benign Het
Rapgef6 T A 11: 54,459,295 (GRCm39) D156E probably benign Het
Rint1 T C 5: 24,005,594 (GRCm39) V92A probably damaging Het
Rnf148 A T 6: 23,654,993 (GRCm39) M1K probably null Het
Rnh1 C T 7: 140,742,346 (GRCm39) R404H probably benign Het
Slc4a8 T C 15: 100,705,134 (GRCm39) V832A possibly damaging Het
Snx31 A T 15: 36,537,678 (GRCm39) C167S probably benign Het
Spart A G 3: 55,029,100 (GRCm39) D297G probably benign Het
Spata13 C T 14: 60,929,275 (GRCm39) R278C probably damaging Het
Tmc1 T C 19: 20,767,209 (GRCm39) T716A probably benign Het
Tpi1 A G 6: 124,789,483 (GRCm39) V164A probably damaging Het
Trim17 A G 11: 58,862,002 (GRCm39) S345G probably benign Het
Vmn1r199 T A 13: 22,567,687 (GRCm39) L327Q probably damaging Het
Washc4 C T 10: 83,386,748 (GRCm39) T124I probably benign Het
Wdr76 C T 2: 121,357,484 (GRCm39) T180I probably benign Het
Zcchc8 T C 5: 123,845,362 (GRCm39) N333D probably benign Het
Zfp516 T C 18: 82,975,460 (GRCm39) S553P probably damaging Het
Other mutations in Or5p50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02205:Or5p50 APN 7 107,421,798 (GRCm39) missense probably damaging 1.00
IGL02252:Or5p50 APN 7 107,422,353 (GRCm39) missense probably benign 0.04
R0365:Or5p50 UTSW 7 107,422,124 (GRCm39) nonsense probably null
R0647:Or5p50 UTSW 7 107,422,218 (GRCm39) missense probably benign 0.02
R0863:Or5p50 UTSW 7 107,422,581 (GRCm39) missense probably benign
R1830:Or5p50 UTSW 7 107,422,578 (GRCm39) missense probably benign 0.02
R2189:Or5p50 UTSW 7 107,421,822 (GRCm39) missense probably benign 0.09
R2316:Or5p50 UTSW 7 107,422,007 (GRCm39) missense probably benign 0.25
R6187:Or5p50 UTSW 7 107,421,781 (GRCm39) missense probably benign
R6305:Or5p50 UTSW 7 107,421,864 (GRCm39) missense probably benign 0.01
R6774:Or5p50 UTSW 7 107,422,395 (GRCm39) missense probably benign 0.06
R7019:Or5p50 UTSW 7 107,422,365 (GRCm39) missense probably benign 0.04
R7205:Or5p50 UTSW 7 107,421,782 (GRCm39) missense probably benign 0.01
R7466:Or5p50 UTSW 7 107,422,129 (GRCm39) nonsense probably null
R8128:Or5p50 UTSW 7 107,422,632 (GRCm39) missense probably damaging 1.00
R8251:Or5p50 UTSW 7 107,421,776 (GRCm39) missense probably damaging 0.98
R8252:Or5p50 UTSW 7 107,421,776 (GRCm39) missense probably damaging 0.98
R8253:Or5p50 UTSW 7 107,421,776 (GRCm39) missense probably damaging 0.98
R9008:Or5p50 UTSW 7 107,422,628 (GRCm39) missense possibly damaging 0.53
R9381:Or5p50 UTSW 7 107,421,812 (GRCm39) missense probably damaging 1.00
R9509:Or5p50 UTSW 7 107,422,440 (GRCm39) missense probably benign
Z1176:Or5p50 UTSW 7 107,422,200 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAAACGATCATAAGCCATGGTG -3'
(R):5'- CTGTACTCTCTCCAGCACAG -3'

Sequencing Primer
(F):5'- TACACCCAAGGTAGGAGATTGTGC -3'
(R):5'- TCCAGCACAGCCTTGATCTAG -3'
Posted On 2021-04-30