Incidental Mutation 'R2083:Or4f59'
ID 230129
Institutional Source Beutler Lab
Gene Symbol Or4f59
Ensembl Gene ENSMUSG00000074947
Gene Name olfactory receptor family 4 subfamily F member 59
Synonyms GA_x6K02T2Q125-73090482-73089529, MOR245-20, Olfr1312
MMRRC Submission 040088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2083 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111872422-111873375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111872898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 160 (V160I)
Ref Sequence ENSEMBL: ENSMUSP00000149430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099600] [ENSMUST00000213582] [ENSMUST00000213961] [ENSMUST00000215531]
AlphaFold Q8VF10
Predicted Effect probably benign
Transcript: ENSMUST00000099600
AA Change: V160I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097195
Gene: ENSMUSG00000074947
AA Change: V160I

Pfam:7tm_4 27 302 1.6e-43 PFAM
Pfam:7tm_1 38 284 1.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213582
AA Change: V160I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000213961
AA Change: V160I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000215531
AA Change: V160I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T A 5: 146,121,681 (GRCm39) M73L possibly damaging Het
AA986860 A T 1: 130,668,806 (GRCm39) I58F probably damaging Het
Acsl3 A T 1: 78,677,528 (GRCm39) K507N probably damaging Het
Adcy3 T C 12: 4,223,512 (GRCm39) Y245H probably damaging Het
Adgra1 T C 7: 139,455,547 (GRCm39) S392P probably damaging Het
Ahnak C T 19: 8,988,921 (GRCm39) P3402S probably damaging Het
Ambra1 T A 2: 91,596,945 (GRCm39) I12N possibly damaging Het
Atp10b A G 11: 43,103,250 (GRCm39) T545A probably benign Het
Atxn2 G T 5: 121,922,069 (GRCm39) A638S probably benign Het
Cd109 T C 9: 78,574,575 (GRCm39) S520P probably damaging Het
Col6a3 T C 1: 90,709,733 (GRCm39) D1821G unknown Het
Cyp4a10 T C 4: 115,382,505 (GRCm39) V265A possibly damaging Het
Dmrtb1 C T 4: 107,540,809 (GRCm39) R184Q possibly damaging Het
Dnah7b A T 1: 46,280,227 (GRCm39) I2719F possibly damaging Het
En2 T C 5: 28,372,071 (GRCm39) S183P probably damaging Het
Etfb A G 7: 43,105,924 (GRCm39) T101A probably benign Het
Etl4 T A 2: 20,748,360 (GRCm39) S364T probably damaging Het
Gm17728 C A 17: 9,641,121 (GRCm39) S77Y possibly damaging Het
Golga4 A G 9: 118,361,658 (GRCm39) E221G probably damaging Het
Gpr37 T C 6: 25,688,416 (GRCm39) N227S possibly damaging Het
Insyn2b A G 11: 34,352,141 (GRCm39) D61G probably benign Het
Kctd1 A T 18: 15,107,112 (GRCm39) N784K possibly damaging Het
Klhl22 A G 16: 17,594,389 (GRCm39) T173A probably benign Het
Ly6e T A 15: 74,830,168 (GRCm39) C41S probably damaging Het
Mapkbp1 T C 2: 119,845,963 (GRCm39) L444P possibly damaging Het
Mkx A T 18: 6,992,855 (GRCm39) I143K probably damaging Het
Mlh3 A G 12: 85,315,815 (GRCm39) F124L probably benign Het
Nlrp1a A T 11: 71,015,046 (GRCm39) L68H possibly damaging Het
Obscn A C 11: 58,964,457 (GRCm39) Y726* probably null Het
Or8d1 T G 9: 38,766,637 (GRCm39) V93G probably benign Het
Peak1 G A 9: 56,166,233 (GRCm39) S565L probably damaging Het
Pter T A 2: 12,983,247 (GRCm39) L84Q probably damaging Het
Ptpn4 A G 1: 119,615,489 (GRCm39) L555P possibly damaging Het
Rpp40 A T 13: 36,082,975 (GRCm39) M171K probably benign Het
Sacs A G 14: 61,443,955 (GRCm39) I2000M possibly damaging Het
Scn5a T C 9: 119,321,189 (GRCm39) I1458V probably benign Het
Slc38a4 T C 15: 96,906,874 (GRCm39) D288G probably benign Het
Slc8a2 T G 7: 15,868,440 (GRCm39) V224G probably damaging Het
Sptbn4 T C 7: 27,127,681 (GRCm39) E173G probably benign Het
Tas1r1 T A 4: 152,112,848 (GRCm39) H735L probably benign Het
Trps1 G T 15: 50,685,701 (GRCm39) Q155K probably damaging Het
Tspyl5 T C 15: 33,686,892 (GRCm39) H351R probably damaging Het
Ttf2 A T 3: 100,876,817 (GRCm39) D21E probably benign Het
Ttll7 A G 3: 146,635,859 (GRCm39) R398G possibly damaging Het
Tubgcp6 A T 15: 89,006,579 (GRCm39) Y148N probably damaging Het
Vmn1r8 T A 6: 57,013,325 (GRCm39) H125Q probably benign Het
Zfhx4 A G 3: 5,468,223 (GRCm39) T2794A possibly damaging Het
Zfp27 T C 7: 29,594,208 (GRCm39) I586V probably benign Het
Zfyve16 T C 13: 92,660,770 (GRCm39) D13G probably damaging Het
Other mutations in Or4f59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Or4f59 APN 2 111,872,716 (GRCm39) missense probably benign 0.00
IGL01650:Or4f59 APN 2 111,872,720 (GRCm39) missense possibly damaging 0.84
IGL02390:Or4f59 APN 2 111,873,056 (GRCm39) missense possibly damaging 0.84
IGL03392:Or4f59 APN 2 111,873,321 (GRCm39) missense probably benign 0.00
R1170:Or4f59 UTSW 2 111,872,560 (GRCm39) missense probably benign 0.45
R1620:Or4f59 UTSW 2 111,872,591 (GRCm39) missense probably benign 0.07
R3605:Or4f59 UTSW 2 111,873,168 (GRCm39) missense probably benign
R4182:Or4f59 UTSW 2 111,872,873 (GRCm39) missense probably damaging 1.00
R5739:Or4f59 UTSW 2 111,873,128 (GRCm39) missense probably damaging 0.99
R6321:Or4f59 UTSW 2 111,873,113 (GRCm39) missense probably benign 0.07
R7231:Or4f59 UTSW 2 111,872,711 (GRCm39) missense probably damaging 1.00
R7365:Or4f59 UTSW 2 111,873,359 (GRCm39) missense possibly damaging 0.95
R7673:Or4f59 UTSW 2 111,872,925 (GRCm39) missense probably benign
R7978:Or4f59 UTSW 2 111,872,523 (GRCm39) missense possibly damaging 0.92
R8112:Or4f59 UTSW 2 111,872,982 (GRCm39) missense probably damaging 1.00
R8167:Or4f59 UTSW 2 111,872,789 (GRCm39) missense possibly damaging 0.91
R8356:Or4f59 UTSW 2 111,872,943 (GRCm39) missense probably damaging 0.99
R8799:Or4f59 UTSW 2 111,872,528 (GRCm39) missense probably damaging 1.00
R9186:Or4f59 UTSW 2 111,873,095 (GRCm39) missense probably damaging 1.00
R9658:Or4f59 UTSW 2 111,872,823 (GRCm39) missense probably damaging 1.00
Z1177:Or4f59 UTSW 2 111,873,000 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-18