Incidental Mutation 'R9702:Or51f1e'
ID 729622
Institutional Source Beutler Lab
Gene Symbol Or51f1e
Ensembl Gene ENSMUSG00000078080
Gene Name olfactory receptor family 51 subfamily F member 1E
Synonyms Olfr585, GA_x6K02T2PBJ9-5809085-5810035, MOR14-4
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R9702 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102746950-102747906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102747343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 132 (Y132H)
Ref Sequence ENSEMBL: ENSMUSP00000100476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104881]
AlphaFold E9PXW4
Predicted Effect probably damaging
Transcript: ENSMUST00000104881
AA Change: Y132H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100476
Gene: ENSMUSG00000078080
AA Change: Y132H

Pfam:7tm_4 40 318 1.3e-109 PFAM
Pfam:7TM_GPCR_Srsx 45 315 5.9e-6 PFAM
Pfam:7tm_1 50 300 7.9e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,107,378 (GRCm39) Y746H probably damaging Het
Adgrv1 T A 13: 81,684,483 (GRCm39) I1073F possibly damaging Het
Ankrd6 C T 4: 32,810,202 (GRCm39) R493H possibly damaging Het
Apob G T 12: 8,057,559 (GRCm39) A2014S probably damaging Het
Bdnf A T 2: 109,554,117 (GRCm39) M164L possibly damaging Het
Ccdc187 C T 2: 26,172,222 (GRCm39) V287M unknown Het
Cd164 G A 10: 41,404,818 (GRCm39) R192Q probably damaging Het
Cd84 T C 1: 171,700,498 (GRCm39) V205A probably benign Het
Cfap161 T A 7: 83,442,652 (GRCm39) M54L probably benign Het
Crim1 T A 17: 78,681,516 (GRCm39) V990E probably damaging Het
Dsc1 A G 18: 20,227,685 (GRCm39) F518L probably benign Het
Esyt1 G A 10: 128,356,607 (GRCm39) S346L probably damaging Het
Fbxo30 G T 10: 11,166,382 (GRCm39) C368F probably benign Het
Gas2l3 C T 10: 89,249,943 (GRCm39) A392T probably benign Het
Gfra4 T A 2: 130,884,539 (GRCm39) S22C probably benign Het
Gm11992 T G 11: 9,006,568 (GRCm39) V166G probably benign Het
Gp1bb A T 16: 18,439,884 (GRCm39) L70Q probably damaging Het
Gtf2i T C 5: 134,275,415 (GRCm39) T707A probably benign Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Kynu T A 2: 43,479,469 (GRCm39) M121K probably damaging Het
Ldb3 A G 14: 34,299,090 (GRCm39) V178A probably benign Het
Lrrc31 A G 3: 30,735,226 (GRCm39) L350P probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mrps23 C T 11: 88,100,998 (GRCm39) T121M probably damaging Het
Nlrp4c T A 7: 6,068,801 (GRCm39) V234E probably benign Het
Pign A T 1: 105,485,212 (GRCm39) D782E probably damaging Het
Rab11b C A 17: 33,968,026 (GRCm39) R82L possibly damaging Het
Sema3c T C 5: 17,858,828 (GRCm39) S76P probably damaging Het
Slc28a2b T A 2: 122,354,012 (GRCm39) I546N probably damaging Het
Sobp T C 10: 42,897,944 (GRCm39) N547S probably benign Het
Tigd3 G A 19: 5,942,836 (GRCm39) T98M probably damaging Het
Tox T G 4: 6,697,418 (GRCm39) M462L probably benign Het
Vmn1r158 T A 7: 22,490,065 (GRCm39) Q48L probably benign Het
Vps8 A G 16: 21,462,883 (GRCm39) T1383A probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp108 C T 7: 23,960,195 (GRCm39) T262I probably benign Het
Other mutations in Or51f1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Or51f1e APN 7 102,747,077 (GRCm39) missense probably damaging 1.00
IGL02866:Or51f1e APN 7 102,747,590 (GRCm39) missense probably damaging 0.99
FR4548:Or51f1e UTSW 7 102,747,516 (GRCm39) nonsense probably null
FR4976:Or51f1e UTSW 7 102,747,516 (GRCm39) small insertion probably benign
R0893:Or51f1e UTSW 7 102,747,641 (GRCm39) missense probably benign 0.01
R0926:Or51f1e UTSW 7 102,747,092 (GRCm39) missense probably damaging 1.00
R1486:Or51f1e UTSW 7 102,747,637 (GRCm39) missense probably damaging 1.00
R2031:Or51f1e UTSW 7 102,747,371 (GRCm39) missense probably damaging 0.98
R3852:Or51f1e UTSW 7 102,747,391 (GRCm39) missense probably damaging 0.97
R4849:Or51f1e UTSW 7 102,747,526 (GRCm39) missense possibly damaging 0.95
R5241:Or51f1e UTSW 7 102,747,524 (GRCm39) missense probably benign 0.36
R5668:Or51f1e UTSW 7 102,747,103 (GRCm39) missense probably benign 0.42
R5841:Or51f1e UTSW 7 102,747,161 (GRCm39) missense probably damaging 1.00
R6902:Or51f1e UTSW 7 102,747,562 (GRCm39) missense probably benign 0.12
R7943:Or51f1e UTSW 7 102,747,153 (GRCm39) missense probably damaging 0.98
R8265:Or51f1e UTSW 7 102,747,304 (GRCm39) missense probably benign 0.00
R8969:Or51f1e UTSW 7 102,747,251 (GRCm39) missense probably damaging 0.99
R9345:Or51f1e UTSW 7 102,747,713 (GRCm39) missense possibly damaging 0.93
R9376:Or51f1e UTSW 7 102,746,971 (GRCm39) missense probably benign 0.01
RF003:Or51f1e UTSW 7 102,747,513 (GRCm39) nonsense probably null
RF003:Or51f1e UTSW 7 102,747,512 (GRCm39)
RF004:Or51f1e UTSW 7 102,747,516 (GRCm39) nonsense probably null
RF004:Or51f1e UTSW 7 102,747,515 (GRCm39) small insertion probably benign
RF004:Or51f1e UTSW 7 102,747,512 (GRCm39)
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-10-06