Incidental Mutation 'R6592:Or5v1'
ID 524668
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 044716-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R6592 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 37803359-37811098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37809988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 149 (W149R)
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: W149R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131089
Gene: ENSMUSG00000090894
AA Change: W149R

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: W149R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 94% (31/33)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,859,579 (GRCm39) V340A possibly damaging Het
Btbd17 T C 11: 114,682,302 (GRCm39) Y470C probably damaging Het
Clca3a1 G C 3: 144,719,644 (GRCm39) A442G probably damaging Het
Cyp4v3 A T 8: 45,760,018 (GRCm39) N511K probably benign Het
Efcab5 G T 11: 77,004,436 (GRCm39) Q1097K possibly damaging Het
Epha7 T C 4: 28,813,482 (GRCm39) probably null Het
Exoc6 A G 19: 37,560,360 (GRCm39) T126A probably benign Het
Fnip2 T C 3: 79,389,015 (GRCm39) Q572R probably benign Het
Gm17430 C T 18: 9,726,514 (GRCm39) V53I probably benign Het
Gpr149 T C 3: 62,437,961 (GRCm39) D732G probably benign Het
Hdlbp A G 1: 93,340,083 (GRCm39) probably null Het
Herc2 A G 7: 55,857,438 (GRCm39) probably null Het
Htt C T 5: 35,034,388 (GRCm39) T1953I possibly damaging Het
Lgmn C T 12: 102,370,529 (GRCm39) V134I probably damaging Het
Lhfpl7 A G 5: 113,382,329 (GRCm39) Y34C probably damaging Het
Lysmd1 A G 3: 95,045,197 (GRCm39) S148G probably benign Het
Man2a2 T C 7: 80,002,947 (GRCm39) D1054G probably damaging Het
Mcph1 A G 8: 18,718,983 (GRCm39) T640A probably damaging Het
Nat10 T C 2: 103,584,495 (GRCm39) E94G probably null Het
Or4a67 G A 2: 88,598,471 (GRCm39) H63Y probably damaging Het
Pgm3 A G 9: 86,441,496 (GRCm39) V367A possibly damaging Het
Ppp1r1a A C 15: 103,439,799 (GRCm39) D164E probably damaging Het
Proca1 G T 11: 78,095,779 (GRCm39) S137I probably benign Het
Serinc5 T C 13: 92,844,634 (GRCm39) F459L possibly damaging Het
Slc12a8 T C 16: 33,437,626 (GRCm39) probably null Het
Slc51a T C 16: 32,294,621 (GRCm39) D321G probably damaging Het
Tchhl1 T A 3: 93,378,116 (GRCm39) D273E probably damaging Het
Tlk1 G A 2: 70,544,497 (GRCm39) R713C probably damaging Het
Tpr T C 1: 150,287,656 (GRCm39) I465T possibly damaging Het
Usp1 A G 4: 98,814,756 (GRCm39) I5M possibly damaging Het
Zcchc14 T C 8: 122,331,378 (GRCm39) 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
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
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
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'- TTCCTATGGAGGCTGTGTGACC -3'
(R):5'- TCCTCAGGATGGTGGAGATG -3'

Sequencing Primer
(F):5'- GCTGTGTGACCCAGCTCTTTG -3'
(R):5'- GTCCAGCCTATGAGGATCCCAATG -3'
Posted On 2018-06-22