Incidental Mutation 'IGL00225:Olfr60'
ID2325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr60
Ensembl Gene ENSMUSG00000060112
Gene Nameolfactory receptor 60
SynonymsIH6, GA_x6K02T2PBJ9-42496183-42495251, MOR253-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL00225
Quality Score
Status
Chromosome7
Chromosomal Location140343815-140361671 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 140345210 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 260 (Y260H)
Ref Sequence ENSEMBL: ENSMUSP00000150685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075470] [ENSMUST00000210932] [ENSMUST00000211031] [ENSMUST00000215023] [ENSMUST00000216027]
Predicted Effect probably damaging
Transcript: ENSMUST00000075470
AA Change: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074916
Gene: ENSMUSG00000060112
AA Change: Y260H

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 1.2e-50 PFAM
Pfam:7TM_GPCR_Srsx 36 161 1.8e-8 PFAM
Pfam:7tm_1 42 291 2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209726
Predicted Effect probably damaging
Transcript: ENSMUST00000210932
AA Change: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211031
AA Change: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211655
Predicted Effect probably damaging
Transcript: ENSMUST00000215023
AA Change: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216027
AA Change: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Flii T C 11: 60,723,415 N93D probably benign Het
Gm8356 T C 14: 6,537,141 K24E probably damaging Het
Hars G A 18: 36,768,172 T409M probably damaging Het
Ivns1abp A G 1: 151,351,112 probably null Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kdm4c T G 4: 74,345,567 V696G probably benign Het
Klrb1f T A 6: 129,053,175 probably benign Het
Lrp4 G A 2: 91,495,026 V1399I probably benign Het
Mki67 A G 7: 135,690,120 V3168A probably benign Het
Nf1 T A 11: 79,395,905 I177K probably damaging Het
Nnt A T 13: 119,369,997 N371K probably damaging Het
Olfr472 C T 7: 107,903,104 P129L probably damaging Het
Oraov1 G A 7: 144,917,668 G86D possibly damaging Het
Prkdc G T 16: 15,809,644 V3389L possibly damaging Het
Prr16 T A 18: 51,303,120 Y224N possibly damaging Het
Ptgs1 G A 2: 36,237,219 C39Y probably damaging Het
Sla T C 15: 66,782,630 D269G possibly damaging Het
Stk38l T A 6: 146,758,473 M1K probably null Het
Trim24 T A 6: 37,903,648 N160K possibly damaging Het
Zfp451 A G 1: 33,786,540 probably benign Het
Other mutations in Olfr60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03493:Olfr60 APN 7 140345153 missense probably damaging 1.00
R0413:Olfr60 UTSW 7 140345195 missense possibly damaging 0.94
R0652:Olfr60 UTSW 7 140345632 missense probably damaging 1.00
R1848:Olfr60 UTSW 7 140345987 start codon destroyed probably benign
R1908:Olfr60 UTSW 7 140345465 missense probably benign 0.05
R1909:Olfr60 UTSW 7 140345465 missense probably benign 0.05
R5133:Olfr60 UTSW 7 140345323 missense probably damaging 1.00
R5320:Olfr60 UTSW 7 140345635 missense probably benign 0.00
R5429:Olfr60 UTSW 7 140345273 missense possibly damaging 0.67
R6595:Olfr60 UTSW 7 140345647 missense probably damaging 1.00
R6621:Olfr60 UTSW 7 140345455 missense probably damaging 1.00
R7300:Olfr60 UTSW 7 140345355 missense probably damaging 1.00
R7409:Olfr60 UTSW 7 140345405 missense probably benign 0.00
R7562:Olfr60 UTSW 7 140345230 missense probably damaging 1.00
R7646:Olfr60 UTSW 7 140345951 missense probably damaging 1.00
R8158:Olfr60 UTSW 7 140345249 missense probably benign 0.03
R8233:Olfr60 UTSW 7 140345498 missense probably benign 0.01
R8238:Olfr60 UTSW 7 140345890 missense probably damaging 1.00
Z1088:Olfr60 UTSW 7 140345804 missense probably benign 0.42
Posted On2011-12-09