Incidental Mutation 'R4011:Or5v1'
ID 311713
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 040948-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R4011 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37803359-37811098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37810382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 280 (V280A)
Ref Sequence ENSEMBL: ENSMUSP00000149213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168318] [ENSMUST00000216472]
AlphaFold A2RT31
Predicted Effect possibly damaging
Transcript: ENSMUST00000168318
AA Change: V280A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131089
Gene: ENSMUSG00000090894
AA Change: V280A

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 possibly damaging
Transcript: ENSMUST00000216472
AA Change: V280A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.2403 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,572,013 (GRCm39) probably benign Het
Acss2 T A 2: 155,399,548 (GRCm39) L529Q probably damaging Het
Adsl T C 15: 80,850,357 (GRCm39) S359P probably benign Het
C1qtnf1 G A 11: 118,337,365 (GRCm39) G65D probably benign Het
Chd1l A T 3: 97,477,718 (GRCm39) M679K probably benign Het
Cspg4 A G 9: 56,794,601 (GRCm39) T779A probably benign Het
Ddx18 T C 1: 121,489,810 (GRCm39) I200V probably benign Het
Dnah9 T A 11: 65,725,290 (GRCm39) M4288L probably damaging Het
F830045P16Rik A T 2: 129,305,467 (GRCm39) N302K probably damaging Het
Gas1 T G 13: 60,323,791 (GRCm39) D322A unknown Het
Gfm2 T A 13: 97,279,608 (GRCm39) probably benign Het
Gm5592 G T 7: 40,938,934 (GRCm39) V739L probably benign Het
Hbb-bh2 T A 7: 103,489,416 (GRCm39) H45L probably benign Het
Ifit2 G T 19: 34,551,445 (GRCm39) M328I probably benign Het
Igdcc4 T C 9: 65,042,761 (GRCm39) V1237A probably benign Het
Kat2b G A 17: 53,951,769 (GRCm39) probably null Het
Lmtk2 A G 5: 144,112,697 (GRCm39) N1139S probably benign Het
Map1a G A 2: 121,130,608 (GRCm39) A475T probably damaging Het
Map3k20 G A 2: 72,214,468 (GRCm39) probably benign Het
Mga T C 2: 119,762,261 (GRCm39) V1084A probably damaging Het
Msantd5f6 T C 4: 73,320,047 (GRCm39) Y244C probably damaging Het
Myo3b A G 2: 69,926,720 (GRCm39) I5V probably benign Het
Or10a3m A T 7: 108,313,366 (GRCm39) I269L probably benign Het
Or10ag56 A G 2: 87,139,555 (GRCm39) I141V probably benign Het
Or10ag57 A T 2: 87,218,924 (GRCm39) I292F possibly damaging Het
Or56b1 A G 7: 104,285,555 (GRCm39) T225A probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Osmr G T 15: 6,854,014 (GRCm39) R565S probably benign Het
Pcolce G T 5: 137,604,036 (GRCm39) Q344K probably benign Het
Prdm11 A G 2: 92,843,175 (GRCm39) F95L probably damaging Het
Psd2 C T 18: 36,120,300 (GRCm39) T383I probably benign Het
Reg3a G A 6: 78,360,553 (GRCm39) D164N probably damaging Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Sgce G T 6: 4,691,563 (GRCm39) Y301* probably null Het
Slc28a3 T C 13: 58,714,064 (GRCm39) K434E probably benign Het
Slc30a3 A G 5: 31,244,203 (GRCm39) F360L probably damaging Het
Tdpoz3 A T 3: 93,733,550 (GRCm39) Y75F possibly damaging Het
Trim65 A G 11: 116,018,529 (GRCm39) F249L probably benign Het
Tubgcp3 A T 8: 12,689,634 (GRCm39) L544* probably null Het
Vit C T 17: 78,842,121 (GRCm39) probably benign Het
Wdfy4 C A 14: 32,824,637 (GRCm39) probably benign Het
Xpo6 T C 7: 125,739,780 (GRCm39) K431E probably benign Het
Xrn1 T A 9: 95,867,278 (GRCm39) Y545* probably null 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
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'- CATAGGCTGGACTCCTTTCCTG -3'
(R):5'- ACCAGCAACAACTGAGTGG -3'

Sequencing Primer
(F):5'- TACATCATCTCCACCATCCTGAGG -3'
(R):5'- TGTTGATCACACATAAGAGAG -3'
Posted On 2015-04-29