Incidental Mutation 'R6749:Or2y1f'
ID 532896
Institutional Source Beutler Lab
Gene Symbol Or2y1f
Ensembl Gene ENSMUSG00000101750
Gene Name olfactory receptor family 2 subfamily Y member 1F
Synonyms GA_x6K02T2QP88-6141322-6140387, MOR256-25, Olfr1392
MMRRC Submission 044866-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6749 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 49184124-49185149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49184877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 243 (H243R)
Ref Sequence ENSEMBL: ENSMUSP00000149746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189851] [ENSMUST00000214170] [ENSMUST00000214598] [ENSMUST00000215861] [ENSMUST00000217275]
AlphaFold Q8VFA6
Predicted Effect probably damaging
Transcript: ENSMUST00000189851
AA Change: H243R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140904
Gene: ENSMUSG00000101750
AA Change: H243R

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 222 7.1e-8 PFAM
Pfam:7tm_1 41 289 2.4e-32 PFAM
Pfam:7tm_4 139 282 1.8e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214170
AA Change: H243R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214598
AA Change: H243R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215861
AA Change: H243R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217275
AA Change: H243R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,600 (GRCm39) V875A possibly damaging Het
Arhgef15 A T 11: 68,845,383 (GRCm39) F156L probably damaging Het
Bdh2 T A 3: 135,006,452 (GRCm39) S184T probably damaging Het
Bmp5 A T 9: 75,683,375 (GRCm39) M1L probably benign Het
Cacfd1 T C 2: 26,908,467 (GRCm39) Y134H probably damaging Het
Camk1 G A 6: 113,311,486 (GRCm39) P340L probably benign Het
Cdc14a T C 3: 116,090,807 (GRCm39) H424R possibly damaging Het
Cntfr T A 4: 41,663,232 (GRCm39) T192S possibly damaging Het
Erbin G T 13: 103,970,885 (GRCm39) S910R probably damaging Het
Esrp1 A T 4: 11,357,519 (GRCm39) V366E probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 T A 2: 82,808,738 (GRCm39) S1686T possibly damaging Het
Gata5 A G 2: 179,976,143 (GRCm39) L7S probably damaging Het
Hgf T A 5: 16,818,640 (GRCm39) probably null Het
Ift140 A G 17: 25,317,890 (GRCm39) E1458G probably damaging Het
Ift57 G A 16: 49,581,347 (GRCm39) G209R probably benign Het
Il12rb2 G T 6: 67,338,950 (GRCm39) probably benign Het
Krt78 G A 15: 101,859,358 (GRCm39) R280C probably damaging Het
Lipc A G 9: 70,730,668 (GRCm39) I88T probably damaging Het
Lrmda G T 14: 22,077,344 (GRCm39) R27L probably benign Het
Lrrc37a T G 11: 103,392,923 (GRCm39) E834A probably benign Het
Mmachc C A 4: 116,561,738 (GRCm39) R132L probably damaging Het
Myo10 T C 15: 25,714,196 (GRCm39) Y88H probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Padi3 T C 4: 140,523,164 (GRCm39) T289A possibly damaging Het
Pcdhgb4 G T 18: 37,854,282 (GRCm39) A226S possibly damaging Het
Pde4c T C 8: 71,198,659 (GRCm39) V167A probably damaging Het
Pigr A G 1: 130,774,285 (GRCm39) T422A probably benign Het
Pmp2 T C 3: 10,247,542 (GRCm39) Y49C probably benign Het
Prpf39 A G 12: 65,103,048 (GRCm39) I441V possibly damaging Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rsad1 T C 11: 94,434,166 (GRCm39) E354G probably damaging Het
Sema4b T A 7: 79,869,949 (GRCm39) D412E possibly damaging Het
Siglecg A G 7: 43,058,403 (GRCm39) I97V probably benign Het
Slc4a3 C T 1: 75,531,182 (GRCm39) R792* probably null Het
Slc6a20a A G 9: 123,466,135 (GRCm39) C569R probably damaging Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Sult2a3 T A 7: 13,816,629 (GRCm39) Y183F probably benign Het
Tedc1 C T 12: 113,121,702 (GRCm39) T194M probably damaging Het
Tektl1 A C 10: 78,588,672 (GRCm39) M46R possibly damaging Het
Tmem63c T A 12: 87,122,439 (GRCm39) N412K probably damaging Het
Trav5-1 T C 14: 52,860,402 (GRCm39) I69T possibly damaging Het
Trim68 T C 7: 102,327,990 (GRCm39) D321G probably damaging Het
Ttn T C 2: 76,695,600 (GRCm39) probably benign Het
Vars2 A G 17: 35,977,605 (GRCm39) V109A probably damaging Het
Vmn2r96 C T 17: 18,818,352 (GRCm39) P643L probably damaging Het
Zfpm2 G T 15: 40,818,104 (GRCm39) V146F possibly damaging Het
Znfx1 T C 2: 166,898,519 (GRCm39) K135R probably benign Het
Other mutations in Or2y1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Or2y1f APN 11 49,184,457 (GRCm39) missense possibly damaging 0.55
IGL02530:Or2y1f APN 11 49,184,555 (GRCm39) missense possibly damaging 0.78
IGL03026:Or2y1f APN 11 49,184,285 (GRCm39) missense probably damaging 0.99
IGL03106:Or2y1f APN 11 49,184,988 (GRCm39) missense probably damaging 0.99
R0357:Or2y1f UTSW 11 49,184,613 (GRCm39) missense probably damaging 0.96
R0396:Or2y1f UTSW 11 49,184,165 (GRCm39) missense probably benign 0.00
R2281:Or2y1f UTSW 11 49,184,459 (GRCm39) missense probably benign 0.04
R4319:Or2y1f UTSW 11 49,184,503 (GRCm39) missense probably damaging 1.00
R4320:Or2y1f UTSW 11 49,184,503 (GRCm39) missense probably damaging 1.00
R4322:Or2y1f UTSW 11 49,184,503 (GRCm39) missense probably damaging 1.00
R4323:Or2y1f UTSW 11 49,184,503 (GRCm39) missense probably damaging 1.00
R5327:Or2y1f UTSW 11 49,184,493 (GRCm39) missense probably damaging 1.00
R7779:Or2y1f UTSW 11 49,185,048 (GRCm39) missense probably damaging 1.00
R8122:Or2y1f UTSW 11 49,184,401 (GRCm39) missense probably damaging 0.99
R8356:Or2y1f UTSW 11 49,184,385 (GRCm39) missense probably damaging 1.00
R8456:Or2y1f UTSW 11 49,184,385 (GRCm39) missense probably damaging 1.00
R8737:Or2y1f UTSW 11 49,184,965 (GRCm39) missense probably damaging 1.00
R8746:Or2y1f UTSW 11 49,183,993 (GRCm39) intron probably benign
R9375:Or2y1f UTSW 11 49,184,902 (GRCm39) nonsense probably null
X0012:Or2y1f UTSW 11 49,184,760 (GRCm39) missense probably benign 0.36
X0025:Or2y1f UTSW 11 49,184,780 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTGTGGACATCGACTGAATCAC -3'
(R):5'- TAGTACCTTCCACAGAGCCC -3'

Sequencing Primer
(F):5'- GAATCACTTCTTCTGTGAGATGC -3'
(R):5'- ACAGAGCCCCCTTCATATCTTTG -3'
Posted On 2018-08-29