Incidental Mutation 'IGL02958:Or2y17'
ID 365209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2y17
Ensembl Gene ENSMUSG00000045421
Gene Name olfactory receptor family 2 subfamily Y member 17
Synonyms GA_x6K02T2QP88-6094111-6093176, MOR256-2, Olfr1390
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02958
Quality Score
Status
Chromosome 11
Chromosomal Location 49231361-49232296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49232127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 256 (Y256C)
Ref Sequence ENSEMBL: ENSMUSP00000151059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062719] [ENSMUST00000215014]
AlphaFold Q8VGW9
Predicted Effect probably benign
Transcript: ENSMUST00000062719
AA Change: Y256C

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000053611
Gene: ENSMUSG00000045421
AA Change: Y256C

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.5e-45 PFAM
Pfam:7TM_GPCR_Srsx 35 230 2.8e-6 PFAM
Pfam:7tm_1 41 289 2.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215014
AA Change: Y256C

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G T 17: 45,829,098 (GRCm39) V755L probably benign Het
Abhd15 T C 11: 77,406,791 (GRCm39) V256A possibly damaging Het
Agtr1b A T 3: 20,370,258 (GRCm39) V116E possibly damaging Het
Ahi1 A T 10: 20,839,698 (GRCm39) D203V probably damaging Het
Aplp2 G T 9: 31,075,972 (GRCm39) probably benign Het
Arid4a T C 12: 71,144,337 (GRCm39) S1249P probably benign Het
Asz1 T A 6: 18,073,813 (GRCm39) K298M possibly damaging Het
C4bp A G 1: 130,564,532 (GRCm39) I384T probably damaging Het
Cacna1e C A 1: 154,341,487 (GRCm39) A1236S probably damaging Het
Cdh13 T C 8: 120,039,460 (GRCm39) I634T possibly damaging Het
Cemip A T 7: 83,624,263 (GRCm39) F524L probably damaging Het
Dnah7c G A 1: 46,696,271 (GRCm39) R2051H probably damaging Het
Dnajc17 T C 2: 119,016,243 (GRCm39) K77E probably benign Het
Efhc2 C T X: 17,027,485 (GRCm39) probably benign Het
Ergic2 A T 6: 148,083,441 (GRCm39) *50K probably null Het
Fam83g C T 11: 61,598,548 (GRCm39) P812S probably damaging Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Itih3 T C 14: 30,635,139 (GRCm39) T73A probably benign Het
Kcnj1 A G 9: 32,307,851 (GRCm39) S72G probably damaging Het
Kcnn4 T C 7: 24,074,170 (GRCm39) V78A probably benign Het
Lrp1b T A 2: 41,192,928 (GRCm39) D1353V probably damaging Het
Lrrc2 T A 9: 110,791,741 (GRCm39) probably null Het
Mplkipl1 G T 19: 61,164,118 (GRCm39) Q106K possibly damaging Het
Ndufs8 T C 19: 3,961,232 (GRCm39) E45G probably benign Het
Nell1 G A 7: 49,870,085 (GRCm39) probably null Het
Nxt1 A G 2: 148,517,692 (GRCm39) probably benign Het
Or5al5 T A 2: 85,961,351 (GRCm39) I219F probably benign Het
Pdzd8 A T 19: 59,288,804 (GRCm39) C865* probably null Het
Pop1 G T 15: 34,530,509 (GRCm39) C969F probably damaging Het
Rc3h2 A C 2: 37,304,712 (GRCm39) I16S probably damaging Het
Shank1 T C 7: 44,003,897 (GRCm39) V1863A possibly damaging Het
Slc15a4 A T 5: 127,681,729 (GRCm39) L296Q possibly damaging Het
Spmip1 G A 6: 29,471,625 (GRCm39) G34R probably damaging Het
Ssr4 T C X: 72,830,856 (GRCm39) probably benign Het
Supt20 T A 3: 54,621,144 (GRCm39) probably benign Het
Ttc8 A T 12: 98,930,803 (GRCm39) K282N probably benign Het
Usp40 A T 1: 87,906,207 (GRCm39) V676E probably damaging Het
Vmn1r43 T C 6: 89,847,031 (GRCm39) I152V probably benign Het
Vmn2r61 A T 7: 41,949,361 (GRCm39) I594F probably benign Het
Vps53 A C 11: 76,008,537 (GRCm39) I261S probably damaging Het
Wdr19 T A 5: 65,370,150 (GRCm39) probably null Het
Zc3hav1 T A 6: 38,309,919 (GRCm39) D301V probably damaging Het
Other mutations in Or2y17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02176:Or2y17 APN 11 49,232,133 (GRCm39) missense probably benign 0.44
IGL02334:Or2y17 APN 11 49,232,018 (GRCm39) missense probably benign 0.09
PIT4402001:Or2y17 UTSW 11 49,232,226 (GRCm39) missense probably damaging 1.00
R0149:Or2y17 UTSW 11 49,231,641 (GRCm39) missense probably benign 0.07
R0361:Or2y17 UTSW 11 49,231,641 (GRCm39) missense probably benign 0.07
R0417:Or2y17 UTSW 11 49,231,500 (GRCm39) missense possibly damaging 0.88
R1187:Or2y17 UTSW 11 49,231,417 (GRCm39) missense probably damaging 1.00
R1859:Or2y17 UTSW 11 49,232,211 (GRCm39) missense probably damaging 1.00
R1882:Or2y17 UTSW 11 49,231,539 (GRCm39) missense probably damaging 1.00
R1885:Or2y17 UTSW 11 49,231,662 (GRCm39) missense probably damaging 1.00
R2193:Or2y17 UTSW 11 49,231,770 (GRCm39) missense possibly damaging 0.70
R2322:Or2y17 UTSW 11 49,231,476 (GRCm39) missense probably damaging 1.00
R3929:Or2y17 UTSW 11 49,231,820 (GRCm39) missense probably benign 0.00
R4739:Or2y17 UTSW 11 49,232,148 (GRCm39) missense probably benign 0.00
R4939:Or2y17 UTSW 11 49,231,376 (GRCm39) missense probably benign 0.00
R5977:Or2y17 UTSW 11 49,231,592 (GRCm39) missense probably damaging 0.96
R6338:Or2y17 UTSW 11 49,231,694 (GRCm39) missense probably benign 0.30
R6864:Or2y17 UTSW 11 49,231,580 (GRCm39) missense probably damaging 0.99
R7045:Or2y17 UTSW 11 49,231,757 (GRCm39) missense probably damaging 0.96
R7276:Or2y17 UTSW 11 49,231,821 (GRCm39) missense probably benign 0.33
R7339:Or2y17 UTSW 11 49,231,875 (GRCm39) missense not run
R8355:Or2y17 UTSW 11 49,231,592 (GRCm39) missense possibly damaging 0.89
R8497:Or2y17 UTSW 11 49,231,721 (GRCm39) missense probably damaging 1.00
R8715:Or2y17 UTSW 11 49,232,154 (GRCm39) missense probably damaging 1.00
R9587:Or2y17 UTSW 11 49,232,007 (GRCm39) missense probably benign 0.22
Posted On 2015-12-18