Incidental Mutation 'IGL02940:Olfr1277'
ID364468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1277
Ensembl Gene ENSMUSG00000074965
Gene Nameolfactory receptor 1277
SynonymsMOR248-11, GA_x6K02T2Q125-72321818-72320907
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02940
Quality Score
Status
Chromosome2
Chromosomal Location111264946-111274106 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111269728 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 213 (L213Q)
Ref Sequence ENSEMBL: ENSMUSP00000150703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099619] [ENSMUST00000214760]
Predicted Effect probably damaging
Transcript: ENSMUST00000099619
AA Change: L213Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097214
Gene: ENSMUSG00000074965
AA Change: L213Q

DomainStartEndE-ValueType
Pfam:7tm_4 31 303 5.5e-50 PFAM
Pfam:7tm_1 41 287 7.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214760
AA Change: L213Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 T A 8: 95,033,456 V101D possibly damaging Het
Brca1 T C 11: 101,489,912 D1765G probably benign Het
Cadps2 T C 6: 23,496,809 K450R probably benign Het
Cc2d2a A T 5: 43,728,294 probably null Het
Dbh A G 2: 27,168,309 Y163C probably damaging Het
Drc7 T A 8: 95,074,297 I649N probably damaging Het
Dst G A 1: 34,289,587 A7097T probably benign Het
Fbxo46 A G 7: 19,135,612 H52R probably benign Het
Gm10451 A C 12: 76,451,170 noncoding transcript Het
Gm9944 T C 4: 144,453,139 probably benign Het
Lsm14a G T 7: 34,371,171 S100* probably null Het
Mrc2 C T 11: 105,341,171 R850C probably damaging Het
Musk A G 4: 58,373,364 D763G probably damaging Het
Ncan C T 8: 70,110,085 V508I probably benign Het
Pgls C T 8: 71,594,097 S18L probably damaging Het
Phf20l1 A G 15: 66,595,151 T98A probably damaging Het
Prdm13 T A 4: 21,683,421 K180* probably null Het
Rai1 T C 11: 60,187,018 V636A probably benign Het
Setd5 T C 6: 113,114,938 F240S possibly damaging Het
Slco1a5 A G 6: 142,242,005 L536P probably damaging Het
Stk39 C T 2: 68,220,899 probably null Het
Tenm2 T C 11: 36,041,644 T1707A probably damaging Het
Tlr2 A T 3: 83,836,474 D767E probably benign Het
Tlr7 C T X: 167,307,834 V219I probably benign Het
Tmprss7 A G 16: 45,656,455 S815P probably damaging Het
Trav12-1 T A 14: 53,538,560 W57R probably damaging Het
Uxt T C X: 20,959,786 E66G possibly damaging Het
Vmn2r45 A T 7: 8,472,370 M553K probably damaging Het
Vmn2r67 A G 7: 85,136,743 W685R probably benign Het
Vstm5 A C 9: 15,257,666 D144A probably damaging Het
Zfp592 A G 7: 81,024,827 H513R probably damaging Het
Zfp830 T A 11: 82,765,469 probably benign Het
Zfp990 A G 4: 145,534,922 probably null Het
Other mutations in Olfr1277
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01552:Olfr1277 APN 2 111269912 missense probably damaging 1.00
IGL02550:Olfr1277 APN 2 111270004 missense probably damaging 0.99
IGL02661:Olfr1277 APN 2 111269466 missense possibly damaging 0.56
R0121:Olfr1277 UTSW 2 111270314 missense probably benign 0.01
R0402:Olfr1277 UTSW 2 111269863 missense probably damaging 1.00
R0903:Olfr1277 UTSW 2 111270356 missense probably benign
R1804:Olfr1277 UTSW 2 111269930 missense probably benign
R1806:Olfr1277 UTSW 2 111270277 missense possibly damaging 0.65
R1965:Olfr1277 UTSW 2 111269593 missense probably damaging 1.00
R3718:Olfr1277 UTSW 2 111270226 missense probably benign
R4044:Olfr1277 UTSW 2 111269582 missense probably benign 0.01
R4401:Olfr1277 UTSW 2 111269833 missense probably damaging 1.00
R4518:Olfr1277 UTSW 2 111269918 missense probably benign
R5309:Olfr1277 UTSW 2 111270310 missense probably benign 0.00
R5312:Olfr1277 UTSW 2 111270310 missense probably benign 0.00
R5367:Olfr1277 UTSW 2 111269890 missense possibly damaging 0.81
R5727:Olfr1277 UTSW 2 111269852 nonsense probably null
R5772:Olfr1277 UTSW 2 111269712 nonsense probably null
R5827:Olfr1277 UTSW 2 111269921 missense probably damaging 1.00
R5882:Olfr1277 UTSW 2 111270139 missense probably damaging 0.99
R6036:Olfr1277 UTSW 2 111269612 missense probably damaging 1.00
R6036:Olfr1277 UTSW 2 111269612 missense probably damaging 1.00
R6728:Olfr1277 UTSW 2 111269673 missense probably benign 0.00
R7629:Olfr1277 UTSW 2 111269876 missense probably benign 0.00
Posted On2015-12-18