Incidental Mutation 'IGL03387:Or4f60'
ID 420892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4f60
Ensembl Gene ENSMUSG00000074946
Gene Name olfactory receptor family 4 subfamily F member 60
Synonyms GA_x6K02T2Q125-73119859-73118924, MOR245-23, Olfr1313
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL03387
Quality Score
Status
Chromosome 2
Chromosomal Location 111901991-111902928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111902007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 307 (Y307F)
Ref Sequence ENSEMBL: ENSMUSP00000148886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099599] [ENSMUST00000213577] [ENSMUST00000216071]
AlphaFold Q7TQW8
Predicted Effect probably benign
Transcript: ENSMUST00000099599
AA Change: Y307F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097194
Gene: ENSMUSG00000074946
AA Change: Y307F

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 2.2e-41 PFAM
Pfam:7tm_1 41 286 2.8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213577
AA Change: Y307F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216071
AA Change: Y307F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A C 13: 68,878,486 (GRCm39) I384S probably damaging Het
Atxn7 T C 14: 14,087,273 (GRCm38) probably benign Het
Blm A T 7: 80,143,895 (GRCm39) V848D probably damaging Het
Cul1 G T 6: 47,478,143 (GRCm39) L175F probably damaging Het
Cyp4a29 A G 4: 115,108,368 (GRCm39) H364R possibly damaging Het
Ddx60 A G 8: 62,465,483 (GRCm39) D1380G probably damaging Het
Det1 A T 7: 78,493,372 (GRCm39) C211S possibly damaging Het
Dnaaf9 A G 2: 130,559,200 (GRCm39) Y822H probably damaging Het
F5 A C 1: 164,020,801 (GRCm39) Q1092P probably damaging Het
Fam117b A C 1: 59,992,119 (GRCm39) Y256S probably benign Het
Fbxl13 A G 5: 21,728,796 (GRCm39) probably null Het
Galnt7 A G 8: 57,979,212 (GRCm39) I637T probably benign Het
H2-T24 T A 17: 36,317,671 (GRCm39) K120N unknown Het
Hes2 A G 4: 152,244,269 (GRCm39) K18R probably damaging Het
Icam5 A T 9: 20,945,097 (GRCm39) Q220L probably benign Het
Kdm8 G A 7: 125,054,278 (GRCm39) A170T probably benign Het
Krt40 G A 11: 99,430,711 (GRCm39) A321V probably damaging Het
Mapkbp1 T A 2: 119,828,979 (GRCm39) V45D probably damaging Het
Mbip A G 12: 56,382,597 (GRCm39) Y290H probably damaging Het
Mical1 A G 10: 41,354,195 (GRCm39) Y48C probably damaging Het
Mslnl T C 17: 25,963,051 (GRCm39) S300P probably benign Het
Nanog T C 6: 122,688,731 (GRCm39) L104P probably damaging Het
Or10ak11 T C 4: 118,687,238 (GRCm39) Y132C probably damaging Het
Or4c113 A T 2: 88,885,457 (GRCm39) H104Q probably damaging Het
Or52n2c A T 7: 104,574,580 (GRCm39) N130K probably benign Het
Oxgr1 C A 14: 120,260,199 (GRCm39) E3* probably null Het
Pam16 A T 16: 4,434,671 (GRCm39) probably benign Het
Plcb1 A T 2: 134,655,606 (GRCm39) probably benign Het
Slc25a32 A T 15: 38,969,359 (GRCm39) V58E probably benign Het
Slc2a12 G T 10: 22,541,134 (GRCm39) V330F probably damaging Het
Slit1 T C 19: 41,591,881 (GRCm39) E1247G possibly damaging Het
Supt5 A T 7: 28,019,508 (GRCm39) C519S possibly damaging Het
Szt2 A G 4: 118,221,922 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,180 (GRCm39) W294R possibly damaging Het
Tex21 A T 12: 76,245,694 (GRCm39) M534K probably damaging Het
Tmem132c T C 5: 127,640,784 (GRCm39) I985T probably benign Het
Tmem87b T C 2: 128,665,019 (GRCm39) V61A probably benign Het
Trhr2 G A 8: 123,085,220 (GRCm39) probably benign Het
Ttc28 A G 5: 111,381,208 (GRCm39) D1209G probably benign Het
Uchl5 A G 1: 143,677,940 (GRCm39) E148G probably benign Het
Wdr62 T C 7: 29,970,199 (GRCm39) I203V possibly damaging Het
Wnk1 T C 6: 119,931,148 (GRCm39) I799V possibly damaging Het
Other mutations in Or4f60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Or4f60 APN 2 111,902,100 (GRCm39) missense probably damaging 0.98
IGL01790:Or4f60 APN 2 111,902,266 (GRCm39) missense probably benign 0.00
IGL02054:Or4f60 APN 2 111,902,269 (GRCm39) missense probably benign 0.43
R1891:Or4f60 UTSW 2 111,902,739 (GRCm39) missense probably damaging 1.00
R2509:Or4f60 UTSW 2 111,902,837 (GRCm39) missense probably benign
R2520:Or4f60 UTSW 2 111,902,013 (GRCm39) missense probably benign 0.00
R3084:Or4f60 UTSW 2 111,902,320 (GRCm39) nonsense probably null
R3085:Or4f60 UTSW 2 111,902,320 (GRCm39) nonsense probably null
R3086:Or4f60 UTSW 2 111,902,320 (GRCm39) nonsense probably null
R4357:Or4f60 UTSW 2 111,902,583 (GRCm39) missense probably damaging 1.00
R4700:Or4f60 UTSW 2 111,902,097 (GRCm39) missense possibly damaging 0.54
R5366:Or4f60 UTSW 2 111,902,823 (GRCm39) missense possibly damaging 0.91
R5372:Or4f60 UTSW 2 111,902,454 (GRCm39) missense probably benign 0.03
R5643:Or4f60 UTSW 2 111,902,013 (GRCm39) missense probably benign 0.00
R5644:Or4f60 UTSW 2 111,902,013 (GRCm39) missense probably benign 0.00
R5681:Or4f60 UTSW 2 111,902,722 (GRCm39) missense probably benign 0.38
R6004:Or4f60 UTSW 2 111,902,371 (GRCm39) missense probably damaging 1.00
R6609:Or4f60 UTSW 2 111,902,509 (GRCm39) missense probably benign 0.01
R7056:Or4f60 UTSW 2 111,902,662 (GRCm39) missense probably benign
R7066:Or4f60 UTSW 2 111,902,541 (GRCm39) missense probably damaging 1.00
R7417:Or4f60 UTSW 2 111,902,445 (GRCm39) missense probably benign 0.01
R8942:Or4f60 UTSW 2 111,902,802 (GRCm39) missense probably damaging 1.00
R9261:Or4f60 UTSW 2 111,902,718 (GRCm39) missense probably damaging 1.00
R9423:Or4f60 UTSW 2 111,902,808 (GRCm39) missense possibly damaging 0.91
Posted On 2016-08-02