Incidental Mutation 'IGL01722:Or2y1'
ID 105129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2y1
Ensembl Gene ENSMUSG00000059729
Gene Name olfactory receptor family 2 subfamily Y member 1
Synonyms Olfr1385, Olfr1549-ps1, MOR256-42P, MOR256-42P, GA_x6K02T2QP88-5941817-5940888, MOR256-41P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01722
Quality Score
Status
Chromosome 11
Chromosomal Location 49385362-49386291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 49385793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 144 (L144F)
Ref Sequence ENSEMBL: ENSMUSP00000150035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071807] [ENSMUST00000214948]
AlphaFold Q7TQT1
Predicted Effect probably damaging
Transcript: ENSMUST00000071807
AA Change: L144F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071710
Gene: ENSMUSG00000059729
AA Change: L144F

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 2.1e-46 PFAM
Pfam:7TM_GPCR_Srsx 35 214 9.5e-6 PFAM
Pfam:7tm_1 41 289 2.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214948
AA Change: L144F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216450
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c T A 2: 58,173,561 (GRCm39) probably benign Het
Alb G A 5: 90,618,698 (GRCm39) probably null Het
Ankrd9 A G 12: 110,943,797 (GRCm39) V46A probably damaging Het
Apol11a A T 15: 77,401,307 (GRCm39) M265L probably benign Het
Ccdc158 T C 5: 92,810,598 (GRCm39) N97D possibly damaging Het
Cobl T G 11: 12,203,987 (GRCm39) H823P probably benign Het
Dnaja2 A T 8: 86,279,908 (GRCm39) H90Q probably benign Het
Dpagt1 T C 9: 44,238,899 (GRCm39) F73S possibly damaging Het
Dph3 C T 14: 31,807,417 (GRCm39) E20K possibly damaging Het
Fbxl13 G T 5: 21,695,412 (GRCm39) T660K possibly damaging Het
Gask1a G A 9: 121,794,149 (GRCm39) S101N possibly damaging Het
Glt6d1 T C 2: 25,684,431 (GRCm39) T192A probably benign Het
Mroh7 C T 4: 106,560,358 (GRCm39) V649I probably benign Het
Mta3 T C 17: 84,063,072 (GRCm39) Y4H possibly damaging Het
Myh14 A G 7: 44,292,956 (GRCm39) L369P probably damaging Het
Or4c52 T C 2: 89,845,351 (GRCm39) C26R probably benign Het
Paxx T C 2: 25,350,277 (GRCm39) D110G probably damaging Het
Pcyox1 T G 6: 86,365,735 (GRCm39) D493A probably damaging Het
Plk2 A G 13: 110,535,976 (GRCm39) E560G probably benign Het
Rnf6 A G 5: 146,147,036 (GRCm39) F661L probably benign Het
Sema4a T C 3: 88,345,491 (GRCm39) K531E probably benign Het
Svs5 T C 2: 164,079,446 (GRCm39) K154E possibly damaging Het
Tbx4 A T 11: 85,802,769 (GRCm39) Q242L probably damaging Het
Tgm3 A T 2: 129,886,488 (GRCm39) I570F probably damaging Het
Thrap3 A T 4: 126,059,322 (GRCm39) M908K possibly damaging Het
Trmo A G 4: 46,386,092 (GRCm39) probably null Het
Usp8 T A 2: 126,600,072 (GRCm39) L997Q probably damaging Het
Vmn1r202 T C 13: 22,685,890 (GRCm39) R176G probably benign Het
Vps52 T A 17: 34,180,589 (GRCm39) Y308* probably null Het
Other mutations in Or2y1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02098:Or2y1 APN 11 49,386,224 (GRCm39) missense probably damaging 1.00
IGL03206:Or2y1 APN 11 49,385,536 (GRCm39) missense probably benign 0.05
IGL03402:Or2y1 APN 11 49,385,873 (GRCm39) missense probably benign
R0412:Or2y1 UTSW 11 49,385,594 (GRCm39) missense probably damaging 1.00
R1263:Or2y1 UTSW 11 49,385,848 (GRCm39) missense probably benign
R1371:Or2y1 UTSW 11 49,385,650 (GRCm39) missense probably damaging 1.00
R1488:Or2y1 UTSW 11 49,385,945 (GRCm39) missense probably benign 0.07
R1835:Or2y1 UTSW 11 49,385,497 (GRCm39) missense probably damaging 1.00
R1923:Or2y1 UTSW 11 49,386,131 (GRCm39) missense probably damaging 0.97
R2290:Or2y1 UTSW 11 49,385,857 (GRCm39) missense probably benign
R3738:Or2y1 UTSW 11 49,386,287 (GRCm39) missense possibly damaging 0.56
R3739:Or2y1 UTSW 11 49,386,287 (GRCm39) missense possibly damaging 0.56
R4034:Or2y1 UTSW 11 49,386,287 (GRCm39) missense possibly damaging 0.56
R4193:Or2y1 UTSW 11 49,386,134 (GRCm39) missense probably damaging 1.00
R4406:Or2y1 UTSW 11 49,385,744 (GRCm39) missense probably benign 0.01
R5239:Or2y1 UTSW 11 49,385,555 (GRCm39) missense possibly damaging 0.93
R6713:Or2y1 UTSW 11 49,385,784 (GRCm39) missense probably damaging 1.00
R6861:Or2y1 UTSW 11 49,385,632 (GRCm39) missense probably benign 0.00
R7916:Or2y1 UTSW 11 49,385,543 (GRCm39) missense probably benign
R8712:Or2y1 UTSW 11 49,385,671 (GRCm39) missense probably benign
R9509:Or2y1 UTSW 11 49,385,476 (GRCm39) missense probably benign
R9624:Or2y1 UTSW 11 49,385,834 (GRCm39) missense possibly damaging 0.94
R9793:Or2y1 UTSW 11 49,385,882 (GRCm39) missense probably damaging 1.00
R9795:Or2y1 UTSW 11 49,385,882 (GRCm39) missense probably damaging 1.00
Z1176:Or2y1 UTSW 11 49,385,894 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21