Incidental Mutation 'F5426:Or5v1'
ID 580
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # F5426 (G1) of strain 24G1
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 37803359-37811098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 37810427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 295 (K295T)
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: K295T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131089
Gene: ENSMUSG00000090894
AA Change: K295T

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: K295T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2201 question?
Coding Region Coverage
  • 1x: 78.1%
  • 3x: 56.4%
Het Detection Efficiency 35.2%
Validation Efficiency 91% (29/32)
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdk5rap2 A T 4: 70,173,040 (GRCm39) V1344E probably benign Het
D16Ertd472e C T 16: 78,344,889 (GRCm39) C73Y probably damaging Het
Grk4 G A 5: 34,902,503 (GRCm39) probably benign Het
Odc1 G A 12: 17,599,424 (GRCm39) probably null Het
Prss12 T C 3: 123,300,121 (GRCm39) V744A probably damaging Het
Pudp A T 18: 50,701,612 (GRCm39) N40K probably benign Het
Rab30 T C 7: 92,478,876 (GRCm39) I107T possibly damaging Het
Ryr3 T A 2: 112,596,683 (GRCm39) probably benign Het
Sh2d1b1 C A 1: 170,107,350 (GRCm39) probably null Het
Tmc5 T A 7: 118,222,546 (GRCm39) V82D probably benign 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
R1664:Or5v1 UTSW 17 37,810,316 (GRCm39) missense possibly damaging 0.83
R2883:Or5v1 UTSW 17 37,810,271 (GRCm39) missense probably damaging 1.00
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
Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to C transversion at position 968 of the Olfr110 transcript in exon 2 of 2 exons using Genbank record NM_146328.2.  Two transcripts of the Olfr110 gene are displayed on Ensembl. The mutated nucleotide causes a lysine to threonine substitution at amino acid 295 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Olfr110 gene encodes the 317 amino acid olfactory receptor 110. Olfactory receptors are G-protein coupled receptors (GPCRs). Like other GPCRs, OLFR110 contains seven transmembrane domains, an extracellular N-terminus, and a cytoplasmic C-terminus.

Posted On 2011-03-09