Incidental Mutation 'IGL01383:Or2y1c'
ID 78933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2y1c
Ensembl Gene ENSMUSG00000108167
Gene Name olfactory receptor family 2 subfamily Y member 1C
Synonyms GA_x6K02T2QP88-5964781-5963852, Olfr1386, MOR256-50
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # IGL01383
Quality Score
Status
Chromosome 11
Chromosomal Location 49360881-49362008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49361880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 301 (W301R)
Ref Sequence ENSEMBL: ENSMUSP00000150448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071905] [ENSMUST00000204518] [ENSMUST00000213674]
AlphaFold Q7TQT0
Predicted Effect probably benign
Transcript: ENSMUST00000071905
AA Change: W301R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071801
Gene: ENSMUSG00000108167
AA Change: W301R

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 35 227 1.2e-5 PFAM
Pfam:7tm_1 41 289 7.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204518
AA Change: W301R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145320
Gene: ENSMUSG00000108167
AA Change: W301R

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 35 227 1.2e-5 PFAM
Pfam:7tm_1 41 289 7.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213674
AA Change: W301R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik C A 14: 5,051,570 (GRCm38) probably null Het
Abca9 A C 11: 110,004,119 (GRCm39) probably benign Het
Aox1 T A 1: 58,333,464 (GRCm39) M227K probably benign Het
Asb5 T A 8: 55,003,544 (GRCm39) L22H probably damaging Het
Atrx T C X: 104,845,681 (GRCm39) D2309G probably damaging Het
Cand1 T A 10: 119,044,072 (GRCm39) T1074S probably damaging Het
Cep97 T C 16: 55,731,970 (GRCm39) E534G probably damaging Het
Cftr C A 6: 18,226,040 (GRCm39) N329K probably benign Het
Clec7a T C 6: 129,449,603 (GRCm39) T16A probably damaging Het
Col1a1 G A 11: 94,836,351 (GRCm39) R674H probably damaging Het
Csf2rb2 T C 15: 78,181,243 (GRCm39) S50G possibly damaging Het
Eepd1 A G 9: 25,393,778 (GRCm39) D14G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Grin1 C A 2: 25,186,979 (GRCm39) R694L possibly damaging Het
Gtf3c1 A G 7: 125,298,672 (GRCm39) I151T probably damaging Het
Havcr2 T C 11: 46,360,375 (GRCm39) S152P probably damaging Het
Hvcn1 T C 5: 122,375,766 (GRCm39) V15A probably damaging Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Map3k10 C T 7: 27,357,424 (GRCm39) V785M probably benign Het
Mis18bp1 T C 12: 65,195,763 (GRCm39) N667S probably benign Het
Mup3 A C 4: 62,004,196 (GRCm39) Y106D probably damaging Het
Mypn G T 10: 62,971,576 (GRCm39) N821K probably damaging Het
Odad1 T C 7: 45,589,124 (GRCm39) S179P probably damaging Het
Or52b4 A G 7: 102,184,140 (GRCm39) Y62C probably benign Het
Or5ac25 A T 16: 59,182,316 (GRCm39) N88K probably benign Het
Or5i1 A G 2: 87,613,217 (GRCm39) D111G possibly damaging Het
Pcdhb10 A T 18: 37,546,328 (GRCm39) H468L probably benign Het
Pramel27 T G 4: 143,573,102 (GRCm39) probably benign Het
Prp2 C A 6: 132,576,841 (GRCm39) P43T unknown Het
Psg26 A G 7: 18,214,179 (GRCm39) V161A possibly damaging Het
Rab17 T G 1: 90,887,815 (GRCm39) D115A probably damaging Het
Rrp1b T C 17: 32,277,552 (GRCm39) F611L probably damaging Het
Skor1 T A 9: 63,053,838 (GRCm39) T44S probably benign Het
Spaca5 T C X: 20,934,725 (GRCm39) probably benign Het
Tatdn3 G A 1: 190,787,578 (GRCm39) probably benign Het
Tbk1 T C 10: 121,412,184 (GRCm39) D118G probably damaging Het
Tnfsf13b T C 8: 10,081,528 (GRCm39) F230S probably damaging Het
Tnrc6c T C 11: 117,605,083 (GRCm39) S73P probably benign Het
Vmn2r109 A G 17: 20,761,383 (GRCm39) V658A possibly damaging Het
Vmn2r116 C T 17: 23,620,575 (GRCm39) L770F probably damaging Het
Wwp2 T A 8: 108,259,923 (GRCm39) probably null Het
Other mutations in Or2y1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02698:Or2y1c APN 11 49,361,690 (GRCm39) missense probably benign 0.02
IGL02727:Or2y1c APN 11 49,361,893 (GRCm39) missense probably benign 0.04
R0826:Or2y1c UTSW 11 49,361,158 (GRCm39) missense probably damaging 1.00
R1512:Or2y1c UTSW 11 49,361,286 (GRCm39) missense probably benign 0.00
R1822:Or2y1c UTSW 11 49,361,795 (GRCm39) missense probably benign 0.03
R1942:Or2y1c UTSW 11 49,360,981 (GRCm39) start codon destroyed probably null 0.98
R2282:Or2y1c UTSW 11 49,361,470 (GRCm39) missense probably damaging 0.96
R4646:Or2y1c UTSW 11 49,361,451 (GRCm39) missense probably benign 0.00
R4762:Or2y1c UTSW 11 49,361,112 (GRCm39) missense probably damaging 1.00
R4892:Or2y1c UTSW 11 49,361,043 (GRCm39) missense probably benign 0.00
R4968:Or2y1c UTSW 11 49,361,358 (GRCm39) missense probably damaging 1.00
R6882:Or2y1c UTSW 11 49,361,290 (GRCm39) missense probably benign
R7107:Or2y1c UTSW 11 49,361,261 (GRCm39) nonsense probably null
R7300:Or2y1c UTSW 11 49,361,473 (GRCm39) missense probably benign 0.00
R7308:Or2y1c UTSW 11 49,360,754 (GRCm39) start gained probably benign
R8876:Or2y1c UTSW 11 49,361,386 (GRCm39) missense probably damaging 0.97
R8901:Or2y1c UTSW 11 49,361,035 (GRCm39) missense probably damaging 1.00
R9048:Or2y1c UTSW 11 49,361,880 (GRCm39) missense probably benign 0.00
R9641:Or2y1c UTSW 11 49,361,509 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05