Incidental Mutation 'IGL00906:Olfr727'
ID28932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr727
Ensembl Gene ENSMUSG00000059488
Gene Nameolfactory receptor 727
SynonymsGA_x6K02T2PMLR-5817082-5818056, MOR246-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL00906
Quality Score
Status
Chromosome14
Chromosomal Location50123186-50128746 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50126757 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 60 (Y60C)
Ref Sequence ENSEMBL: ENSMUSP00000149886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079142] [ENSMUST00000215317]
Predicted Effect probably damaging
Transcript: ENSMUST00000079142
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078145
Gene: ENSMUSG00000059488
AA Change: Y60C

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 8.5e-49 PFAM
Pfam:7TM_GPCR_Srsx 36 290 1.5e-7 PFAM
Pfam:7tm_1 41 287 1.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205947
Predicted Effect probably damaging
Transcript: ENSMUST00000215317
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,503,274 E221G probably benign Het
Alb A G 5: 90,472,073 N453S probably benign Het
Bckdha C T 7: 25,633,342 V183M probably benign Het
Brpf3 A G 17: 28,836,700 probably benign Het
Ccdc163 T C 4: 116,710,290 probably null Het
Ccdc178 A T 18: 22,135,168 C87* probably null Het
Clca4a A G 3: 144,954,939 V708A probably damaging Het
Cyfip2 A G 11: 46,200,685 V1136A possibly damaging Het
Dnah11 A C 12: 117,911,202 L3976R probably damaging Het
Erich1 A G 8: 14,033,770 probably benign Het
Fam228a A T 12: 4,732,773 Y107N possibly damaging Het
Gm4788 A T 1: 139,731,574 V739E probably damaging Het
Iars2 A T 1: 185,296,403 probably benign Het
Ifi204 A G 1: 173,759,631 probably benign Het
Ifih1 A T 2: 62,645,824 I36N probably benign Het
Jak1 C T 4: 101,154,629 G1092D probably damaging Het
Kir3dl2 G A X: 136,456,348 P122S probably damaging Het
Nacc2 T C 2: 26,061,666 T386A probably damaging Het
Nrf1 C T 6: 30,098,478 T135M probably damaging Het
Olfr641 G A 7: 104,039,844 G16D probably damaging Het
Pcca A C 14: 122,690,133 D436A probably benign Het
Pcdhb11 A T 18: 37,422,121 Q168L possibly damaging Het
Pdgfra A G 5: 75,180,173 I598V probably benign Het
Pla2g6 C T 15: 79,287,747 V637I probably damaging Het
Plac1 A C X: 53,070,716 V39G probably damaging Het
Pparg A G 6: 115,439,861 E5G probably damaging Het
Ppp1r9a A G 6: 5,157,023 D967G possibly damaging Het
Rel T C 11: 23,744,266 T322A probably benign Het
Sgk3 A G 1: 9,877,245 T137A probably benign Het
Sgpp2 A G 1: 78,390,547 R106G probably benign Het
Slc27a5 T A 7: 12,991,057 M459L probably benign Het
Snx21 T C 2: 164,786,220 L52P probably damaging Het
Srarp G A 4: 141,433,273 T83M probably benign Het
Sstr2 A G 11: 113,624,995 R247G probably benign Het
Tnpo3 G A 6: 29,589,048 S101L probably damaging Het
Zan A G 5: 137,389,360 I4863T unknown Het
Other mutations in Olfr727
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Olfr727 APN 14 50126582 missense probably benign 0.00
ANU23:Olfr727 UTSW 14 50126582 missense probably benign 0.00
R0498:Olfr727 UTSW 14 50127293 missense probably damaging 1.00
R0574:Olfr727 UTSW 14 50126682 missense probably damaging 1.00
R1201:Olfr727 UTSW 14 50127356 missense probably damaging 1.00
R2112:Olfr727 UTSW 14 50126623 missense probably damaging 1.00
R2435:Olfr727 UTSW 14 50126754 missense probably damaging 1.00
R4238:Olfr727 UTSW 14 50127432 missense probably benign
R4611:Olfr727 UTSW 14 50127073 missense probably benign 0.12
R4663:Olfr727 UTSW 14 50127482 missense probably benign 0.00
R4672:Olfr727 UTSW 14 50127257 missense probably benign 0.02
R5022:Olfr727 UTSW 14 50127012 missense possibly damaging 0.78
R5062:Olfr727 UTSW 14 50127437 missense probably damaging 1.00
R5924:Olfr727 UTSW 14 50126682 missense probably damaging 1.00
R6702:Olfr727 UTSW 14 50127231 missense probably damaging 1.00
R6703:Olfr727 UTSW 14 50127231 missense probably damaging 1.00
R7497:Olfr727 UTSW 14 50127495 missense probably benign 0.20
R7615:Olfr727 UTSW 14 50126989 missense probably benign 0.07
R7798:Olfr727 UTSW 14 50127438 missense probably damaging 1.00
R8413:Olfr727 UTSW 14 50127370 missense probably benign 0.19
R8439:Olfr727 UTSW 14 50127147 missense probably benign
Posted On2013-04-17