Incidental Mutation 'IGL02205:Or5p50'
ID 284423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5p50
Ensembl Gene ENSMUSG00000095910
Gene Name olfactory receptor family 5 subfamily P member 50
Synonyms MOR204-21, GA_x6K02T2PBJ9-10152980-10152036, Olfr469
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02205
Quality Score
Status
Chromosome 7
Chromosomal Location 107421730-107422674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107421798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 293 (Y293H)
Ref Sequence ENSEMBL: ENSMUSP00000150486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075704] [ENSMUST00000213252]
AlphaFold Q8VF66
Predicted Effect probably damaging
Transcript: ENSMUST00000075704
AA Change: Y293H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075122
Gene: ENSMUSG00000095910
AA Change: Y293H

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.3e-53 PFAM
Pfam:7tm_1 44 293 2.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213252
AA Change: Y293H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216431
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T G 11: 117,725,982 (GRCm39) L150R probably damaging Het
Ankrd27 T G 7: 35,316,364 (GRCm39) D543E probably damaging Het
Anks1b T G 10: 89,906,956 (GRCm39) L258V probably benign Het
Cacna1i T C 15: 80,257,152 (GRCm39) F1087S probably benign Het
Chd2 A T 7: 73,091,465 (GRCm39) I1592K probably benign Het
Cmip G A 8: 118,181,714 (GRCm39) V674I probably damaging Het
Col4a2 C T 8: 11,481,305 (GRCm39) Q826* probably null Het
Ctdsp1 C T 1: 74,432,993 (GRCm39) A92V possibly damaging Het
Dnajc10 T A 2: 80,179,702 (GRCm39) S745R possibly damaging Het
Dpp4 T C 2: 62,182,601 (GRCm39) Y560C probably damaging Het
Fbxl6 A G 15: 76,421,541 (GRCm39) M232T probably benign Het
Gm5414 A G 15: 101,534,304 (GRCm39) F267L probably benign Het
Heatr5a A G 12: 51,924,120 (GRCm39) I2031T probably damaging Het
Hmcn2 T G 2: 31,290,139 (GRCm39) V2324G probably damaging Het
Hnmt A T 2: 23,909,157 (GRCm39) N85K probably damaging Het
Kcng4 G T 8: 120,352,822 (GRCm39) R363S probably damaging Het
Kif18a T C 2: 109,137,363 (GRCm39) probably benign Het
Lrrc8b A T 5: 105,629,703 (GRCm39) Y683F probably benign Het
Mepce G T 5: 137,782,757 (GRCm39) T523K probably benign Het
Mroh1 T C 15: 76,321,439 (GRCm39) V1040A possibly damaging Het
Myof A G 19: 37,913,083 (GRCm39) Y1470H probably damaging Het
Otol1 T C 3: 69,925,929 (GRCm39) S35P probably benign Het
P4htm T C 9: 108,459,161 (GRCm39) D257G probably benign Het
Pcdhb15 A G 18: 37,607,010 (GRCm39) T81A probably damaging Het
Polg2 T C 11: 106,669,946 (GRCm39) E108G probably benign Het
Rfx7 T A 9: 72,514,932 (GRCm39) H143Q probably damaging Het
Sf3b2 A G 19: 5,333,765 (GRCm39) V611A probably benign Het
Slc10a7 G T 8: 79,423,932 (GRCm39) K203N probably benign Het
Slc12a5 T A 2: 164,838,399 (GRCm39) V1046D probably benign Het
Tacc2 A T 7: 130,228,412 (GRCm39) D1718V probably damaging Het
Unc79 T A 12: 103,045,260 (GRCm39) I812N probably damaging Het
Vps13c A G 9: 67,790,736 (GRCm39) Y338C probably damaging Het
Wdr17 T C 8: 55,149,335 (GRCm39) Y31C probably damaging Het
Zfp654 A T 16: 64,606,329 (GRCm39) N624K probably damaging Het
Other mutations in Or5p50
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8791:Or5p50 UTSW 7 107,422,557 (GRCm39) missense possibly damaging 0.64
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
Posted On 2015-04-16