Incidental Mutation 'IGL02263:Olfr1051'
ID286812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1051
Ensembl Gene ENSMUSG00000075193
Gene Nameolfactory receptor 1051
SynonymsGA_x6K02T2Q125-47756192-47755266, MOR187-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02263
Quality Score
Status
Chromosome2
Chromosomal Location86273814-86279088 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86276202 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 95 (Y95F)
Ref Sequence ENSEMBL: ENSMUSP00000150061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099898] [ENSMUST00000216432] [ENSMUST00000217245] [ENSMUST00000217294]
Predicted Effect probably benign
Transcript: ENSMUST00000099898
AA Change: Y95F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000097482
Gene: ENSMUSG00000075193
AA Change: Y95F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.8e-53 PFAM
Pfam:7tm_1 41 290 2.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216432
AA Change: Y95F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000217245
AA Change: Y95F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000217294
AA Change: Y95F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A G 1: 38,535,599 V100A probably damaging Het
Agmo T A 12: 37,357,697 N193K probably damaging Het
Dnah8 A G 17: 30,729,165 I1910V probably benign Het
Dsg2 T A 18: 20,590,020 S368T possibly damaging Het
Eif2ak4 A G 2: 118,461,778 T1270A probably benign Het
Ina T C 19: 47,015,487 S245P probably damaging Het
Katnb1 A G 8: 95,090,075 K96R probably damaging Het
Kcnj4 A G 15: 79,485,787 probably benign Het
Kcnn3 A G 3: 89,661,218 H601R possibly damaging Het
Lrrc25 C A 8: 70,617,822 F84L probably benign Het
Ltb A G 17: 35,196,001 Y259C probably damaging Het
Macc1 T G 12: 119,446,017 N173K possibly damaging Het
Med17 A T 9: 15,267,476 N466K probably damaging Het
Ncoa2 A T 1: 13,174,763 N570K probably damaging Het
Olfr1134 A T 2: 87,656,199 C241S probably damaging Het
Olfr629 A T 7: 103,741,055 F62I probably damaging Het
Plb1 T C 5: 32,321,348 probably benign Het
Ptprk G A 10: 28,075,114 V12I unknown Het
Rabggta G A 14: 55,718,961 probably benign Het
Slc41a2 A G 10: 83,313,500 V193A possibly damaging Het
Thbs1 A G 2: 118,119,880 N665D probably benign Het
Tm9sf1 T C 14: 55,642,935 T2A possibly damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Vmn1r91 A G 7: 20,101,843 D229G probably benign Het
Vmn2r7 A C 3: 64,691,447 V654G probably damaging Het
Other mutations in Olfr1051
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01578:Olfr1051 APN 2 86275741 missense probably damaging 0.99
IGL03143:Olfr1051 APN 2 86276236 missense probably benign 0.03
R1182:Olfr1051 UTSW 2 86276268 missense probably damaging 0.98
R1475:Olfr1051 UTSW 2 86275561 makesense probably null
R1712:Olfr1051 UTSW 2 86275993 missense probably damaging 0.97
R1903:Olfr1051 UTSW 2 86275846 missense probably benign 0.00
R2097:Olfr1051 UTSW 2 86276039 nonsense probably null
R4680:Olfr1051 UTSW 2 86276173 missense possibly damaging 0.88
R4879:Olfr1051 UTSW 2 86275763 nonsense probably null
R5094:Olfr1051 UTSW 2 86276040 missense probably damaging 1.00
R6448:Olfr1051 UTSW 2 86276347 missense probably benign 0.07
X0064:Olfr1051 UTSW 2 86276118 missense probably damaging 1.00
Posted On2015-04-16