Incidental Mutation 'R2883:Or5v1'
ID 260942
Institutional Source Beutler Lab
Gene Symbol Or5v1
Ensembl Gene ENSMUSG00000090894
Gene Name olfactory receptor family 5 subfamily V member 1
Synonyms GA_x6K02T2PSCP-1956307-1957260, Olfr110, MOR249-2
MMRRC Submission 040471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R2883 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 37803359-37811098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37810271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 243 (S243F)
Ref Sequence ENSEMBL: ENSMUSP00000149213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168318] [ENSMUST00000216472]
AlphaFold A2RT31
Predicted Effect probably damaging
Transcript: ENSMUST00000168318
AA Change: S243F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131089
Gene: ENSMUSG00000090894
AA Change: S243F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 8.9e-54 PFAM
Pfam:7TM_GPCR_Srsx 35 286 1.9e-6 PFAM
Pfam:7tm_1 41 290 1.2e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216472
AA Change: S243F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik G A 8: 122,266,644 (GRCm39) P81S probably damaging Het
Arhgef10l T C 4: 140,244,113 (GRCm39) Q790R probably benign Het
Asic2 T A 11: 80,784,839 (GRCm39) I367F possibly damaging Het
Asxl2 T C 12: 3,551,830 (GRCm39) S1191P probably benign Het
Bod1l A G 5: 41,989,602 (GRCm39) S374P probably benign Het
C1qtnf7 T A 5: 43,773,222 (GRCm39) F167I probably damaging Het
Cimip3 C A 17: 47,747,650 (GRCm39) V32F probably damaging Het
Col13a1 A G 10: 61,814,135 (GRCm39) L94P probably benign Het
Cped1 A T 6: 22,143,978 (GRCm39) T575S probably damaging Het
Cpt1b T C 15: 89,302,072 (GRCm39) Y702C probably benign Het
D630039A03Rik T A 4: 57,910,560 (GRCm39) N84I probably damaging Het
Dse A T 10: 34,028,503 (GRCm39) D862E probably benign Het
Etl4 A T 2: 20,810,985 (GRCm39) T1023S possibly damaging Het
Fat4 T A 3: 39,034,953 (GRCm39) N2868K probably damaging Het
Fgd5 G A 6: 91,964,090 (GRCm39) probably null Het
Fsip2 C T 2: 82,821,868 (GRCm39) T5867I possibly damaging Het
Fuca2 A G 10: 13,381,695 (GRCm39) T203A probably benign Het
Gli2 T C 1: 118,795,874 (GRCm39) I131V probably damaging Het
Gtpbp4 A G 13: 9,040,759 (GRCm39) V122A possibly damaging Het
Kif1b G A 4: 149,322,105 (GRCm39) T938I possibly damaging Het
Klhl29 T C 12: 5,134,036 (GRCm39) D767G probably damaging Het
Mageb3 A G 2: 121,784,847 (GRCm39) V285A probably benign Het
Myoc A G 1: 162,467,185 (GRCm39) E118G possibly damaging Het
Nedd1 A C 10: 92,530,860 (GRCm39) F410V probably damaging Het
Nipal1 A T 5: 72,825,073 (GRCm39) K255N probably damaging Het
Npr3 T C 15: 11,883,410 (GRCm39) K340E possibly damaging Het
Obsl1 C A 1: 75,473,155 (GRCm39) G1023C possibly damaging Het
Ogdh T C 11: 6,284,545 (GRCm39) L188P probably damaging Het
Or51ac3 T C 7: 103,214,471 (GRCm39) N5S probably benign Het
Or9q1 T A 19: 13,805,239 (GRCm39) I174F probably damaging Het
Otogl G A 10: 107,604,842 (GRCm39) T2188M probably damaging Het
Pck1 G A 2: 173,000,368 (GRCm39) V600I probably benign Het
Ranbp17 A G 11: 33,454,708 (GRCm39) C42R probably damaging Het
Rapgef4 G A 2: 71,861,469 (GRCm39) R53H probably benign Het
Rbm12 G A 2: 155,938,995 (GRCm39) H426Y probably damaging Het
Retreg2 C T 1: 75,123,356 (GRCm39) P428L probably benign Het
Rev3l G T 10: 39,701,152 (GRCm39) S1883I probably damaging Het
Rinl CGGG CGGGGG 7: 28,497,083 (GRCm39) probably null Het
Rora T C 9: 69,282,717 (GRCm39) S356P probably damaging Het
Slc31a1 T C 4: 62,307,008 (GRCm39) V188A probably damaging Het
Slc9a3 A G 13: 74,306,879 (GRCm39) K335E probably damaging Het
Spata22 C A 11: 73,235,504 (GRCm39) H274N possibly damaging Het
Srrm1 T C 4: 135,048,722 (GRCm39) probably benign Het
Stab2 A T 10: 86,803,550 (GRCm39) I333N possibly damaging Het
Supt5 A G 7: 28,028,745 (GRCm39) Y153H possibly damaging Het
Tyk2 T C 9: 21,021,883 (GRCm39) T825A probably benign Het
Usp20 G A 2: 30,908,812 (GRCm39) V798M probably benign Het
Wdr26 A T 1: 181,038,685 (GRCm39) D102E probably damaging Het
Other mutations in Or5v1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01954:Or5v1 APN 17 37,809,540 (GRCm39) utr 5 prime probably benign
IGL03088:Or5v1 APN 17 37,809,539 (GRCm39) utr 5 prime probably benign
F5426:Or5v1 UTSW 17 37,810,427 (GRCm39) missense probably damaging 1.00
R1664:Or5v1 UTSW 17 37,810,316 (GRCm39) missense possibly damaging 0.83
R4011:Or5v1 UTSW 17 37,810,382 (GRCm39) missense possibly damaging 0.79
R4365:Or5v1 UTSW 17 37,810,270 (GRCm39) missense probably damaging 1.00
R4989:Or5v1 UTSW 17 37,810,017 (GRCm39) missense probably benign 0.10
R5442:Or5v1 UTSW 17 37,810,330 (GRCm39) missense probably damaging 1.00
R5577:Or5v1 UTSW 17 37,810,493 (GRCm39) missense probably benign 0.02
R6592:Or5v1 UTSW 17 37,809,988 (GRCm39) missense probably damaging 1.00
R7134:Or5v1 UTSW 17 37,809,776 (GRCm39) missense probably damaging 1.00
R7840:Or5v1 UTSW 17 37,809,868 (GRCm39) missense probably damaging 1.00
R8226:Or5v1 UTSW 17 37,809,560 (GRCm39) missense probably benign 0.16
R8304:Or5v1 UTSW 17 37,810,261 (GRCm39) missense probably damaging 1.00
R8310:Or5v1 UTSW 17 37,810,148 (GRCm39) missense probably benign 0.00
R8435:Or5v1 UTSW 17 37,809,676 (GRCm39) missense probably benign 0.01
R8779:Or5v1 UTSW 17 37,809,718 (GRCm39) missense probably damaging 1.00
R8852:Or5v1 UTSW 17 37,810,321 (GRCm39) missense probably benign 0.28
R8928:Or5v1 UTSW 17 37,809,583 (GRCm39) missense probably damaging 0.99
R8964:Or5v1 UTSW 17 37,809,664 (GRCm39) missense probably damaging 1.00
R9605:Or5v1 UTSW 17 37,810,331 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGCCCTTTTGTGGTAAC -3'
(R):5'- AGAGAAAACTGGTGGCTGCC -3'

Sequencing Primer
(F):5'- AATTATTTCTTCTGTGACATACCTCC -3'
(R):5'- GGCCTTCACAGCCTCTTTGATG -3'
Posted On 2015-01-23