Incidental Mutation 'R8901:Or2y1c'
ID 679975
Institutional Source Beutler Lab
Gene Symbol Or2y1c
Ensembl Gene ENSMUSG00000108167
Gene Name olfactory receptor family 2 subfamily Y member 1C
Synonyms GA_x6K02T2QP88-5964781-5963852, Olfr1386, MOR256-50
MMRRC Submission 068758-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R8901 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 49360881-49362008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49361035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 19 (D19V)
Ref Sequence ENSEMBL: ENSMUSP00000150448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071905] [ENSMUST00000204518] [ENSMUST00000213674]
AlphaFold Q7TQT0
Predicted Effect probably damaging
Transcript: ENSMUST00000071905
AA Change: D19V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071801
Gene: ENSMUSG00000108167
AA Change: D19V

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 damaging
Transcript: ENSMUST00000204518
AA Change: D19V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145320
Gene: ENSMUSG00000108167
AA Change: D19V

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 damaging
Transcript: ENSMUST00000213674
AA Change: D19V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprm T C 11: 66,932,564 (GRCm39) N115S probably damaging Het
Agbl5 T C 5: 31,048,435 (GRCm39) V169A possibly damaging Het
Ajuba T C 14: 54,807,830 (GRCm39) probably benign Het
Ankrd27 G A 7: 35,332,243 (GRCm39) probably benign Het
Brat1 T A 5: 140,698,608 (GRCm39) M260K probably benign Het
Btbd6 G T 12: 112,940,220 (GRCm39) probably benign Het
Cenpf C T 1: 189,394,248 (GRCm39) G503S probably benign Het
Ces1e C T 8: 93,937,103 (GRCm39) D323N probably damaging Het
Chrna5 T C 9: 54,911,737 (GRCm39) F75S probably damaging Het
Clmn A T 12: 104,747,211 (GRCm39) S779T probably benign Het
Cntnap5c T A 17: 58,637,156 (GRCm39) M1011K probably benign Het
Col11a2 A T 17: 34,262,254 (GRCm39) I164F probably damaging Het
Daw1 A C 1: 83,183,643 (GRCm39) K231T possibly damaging Het
Dnah5 T G 15: 28,365,715 (GRCm39) M2637R possibly damaging Het
Dsp G A 13: 38,365,155 (GRCm39) V513M probably damaging Het
Eea1 T G 10: 95,825,431 (GRCm39) I42R probably damaging Het
Ehd4 A T 2: 119,932,805 (GRCm39) I207N probably damaging Het
F11 T C 8: 45,701,851 (GRCm39) T320A probably benign Het
Fhdc1 T A 3: 84,352,874 (GRCm39) M784L probably benign Het
Gm21411 G A 4: 146,982,171 (GRCm39) Q10* probably null Het
Gnao1 T C 8: 94,694,687 (GRCm39) M70T probably benign Het
Gtf2i A G 5: 134,324,389 (GRCm39) F25S probably damaging Het
H2-T3 A T 17: 36,498,252 (GRCm39) D220E probably damaging Het
Hnrnpul2 T G 19: 8,801,809 (GRCm39) L339R probably damaging Het
Impg2 A T 16: 56,072,528 (GRCm39) D320V probably damaging Het
Itga2b A T 11: 102,351,630 (GRCm39) L565Q probably damaging Het
Jph3 A T 8: 122,457,561 (GRCm39) Q67L probably damaging Het
Khnyn T C 14: 56,124,043 (GRCm39) F99S probably damaging Het
Lhcgr A T 17: 89,063,030 (GRCm39) L214Q probably damaging Het
Lix1l C A 3: 96,508,745 (GRCm39) probably benign Het
Mettl13 C T 1: 162,373,814 (GRCm39) V95I possibly damaging Het
Nod2 C T 8: 89,390,437 (GRCm39) T226M probably damaging Het
Nwd2 T C 5: 63,963,685 (GRCm39) W1090R probably damaging Het
Pla2r1 C A 2: 60,332,400 (GRCm39) V481F Het
Polr1b T A 2: 128,967,595 (GRCm39) V996E probably damaging Het
Ppfia3 T A 7: 44,991,141 (GRCm39) R1027W probably damaging Het
Pramel21 A T 4: 143,343,677 (GRCm39) I326F probably benign Het
Rap1gds1 T C 3: 138,663,305 (GRCm39) D298G probably damaging Het
Rlf T C 4: 121,004,010 (GRCm39) T1767A possibly damaging Het
Scn3a C T 2: 65,352,252 (GRCm39) V353M probably benign Het
Setd1b T C 5: 123,299,114 (GRCm39) probably benign Het
Slc25a42 A G 8: 70,646,799 (GRCm39) V19A probably benign Het
Smarcal1 T C 1: 72,624,939 (GRCm39) S29P possibly damaging Het
Sntb2 T C 8: 107,737,975 (GRCm39) F508L possibly damaging Het
Speer4a3 CTTT C 5: 26,155,857 (GRCm39) probably benign Het
Syt15 G T 14: 33,948,028 (GRCm39) R291L probably damaging Het
Tas2r114 T A 6: 131,666,914 (GRCm39) N38I probably damaging Het
Tg T A 15: 66,557,184 (GRCm39) N948K probably damaging Het
Tmem115 A G 9: 107,411,993 (GRCm39) probably benign Het
Ttll8 C T 15: 88,818,146 (GRCm39) D175N probably benign Het
Txk T A 5: 72,858,050 (GRCm39) Y398F probably damaging Het
Wdr36 C A 18: 32,980,013 (GRCm39) T246K probably damaging Het
Wdr43 A T 17: 71,932,461 (GRCm39) R113S probably benign Het
Ybx1 T C 4: 119,138,785 (GRCm39) Y239C probably damaging Het
Other mutations in Or2y1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Or2y1c APN 11 49,361,880 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TATTCAACAGATGTAGCTGAGCAG -3'
(R):5'- GTCCTGTCTTGTCCATAGAGG -3'

Sequencing Primer
(F):5'- CTGAGCAGCAACATGGAAATC -3'
(R):5'- CTTGTCCATAGAGGTTGATGAGGAGC -3'
Posted On 2021-08-31