Incidental Mutation 'IGL03336:Olfr566'
ID417029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr566
Ensembl Gene ENSMUSG00000060888
Gene Nameolfactory receptor 566
SynonymsMOR14-7P, GA_x6K02T2PBJ9-5560696-5559746
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL03336
Quality Score
Status
Chromosome7
Chromosomal Location102855337-102858765 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 102856616 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 222 (C222Y)
Ref Sequence ENSEMBL: ENSMUSP00000148998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071393] [ENSMUST00000209952] [ENSMUST00000213481]
Predicted Effect probably benign
Transcript: ENSMUST00000071393
AA Change: C219Y

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000071344
Gene: ENSMUSG00000060888
AA Change: C219Y

DomainStartEndE-ValueType
Pfam:7tm_4 37 316 1e-110 PFAM
Pfam:7TM_GPCR_Srsx 42 313 3.5e-6 PFAM
Pfam:7tm_1 47 298 9.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209952
AA Change: C222Y

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210522
Predicted Effect probably benign
Transcript: ENSMUST00000213481
AA Change: C222Y

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 60,016,402 V63A probably benign Het
Ankrd11 A G 8: 122,891,843 S1757P probably benign Het
Atp8a1 G T 5: 67,729,807 Y629* probably null Het
Cenpf T C 1: 189,652,647 K2479E probably damaging Het
Clip1 G T 5: 123,653,570 S179* probably null Het
Cmya5 A G 13: 93,093,505 S1692P possibly damaging Het
Cyp17a1 T C 19: 46,671,035 S119G probably benign Het
Fndc5 T C 4: 129,139,918 F160L probably benign Het
Muc5b T C 7: 141,864,363 V3682A probably damaging Het
Myh8 G T 11: 67,284,702 D328Y probably damaging Het
Olfr1226 T C 2: 89,193,897 T46A probably benign Het
Olfr633 T C 7: 103,947,409 L281P probably damaging Het
Olfr713 T A 7: 107,036,335 M60K probably damaging Het
Olfr772 T C 10: 129,174,229 E264G probably benign Het
Paxbp1 T C 16: 91,034,172 I439V probably benign Het
Pcdhb3 T C 18: 37,302,961 V660A possibly damaging Het
Pcyt2 T C 11: 120,615,932 D32G probably damaging Het
Pdzph1 A T 17: 58,974,234 V351D probably benign Het
Ribc2 C T 15: 85,132,913 Q51* probably null Het
Scn2a A G 2: 65,688,744 E438G probably damaging Het
Slc18a3 T C 14: 32,462,828 probably benign Het
Slc5a1 G A 5: 33,146,943 V296I probably benign Het
Slit3 A T 11: 35,670,101 T958S probably damaging Het
Spag8 C T 4: 43,652,114 probably benign Het
Susd3 A C 13: 49,238,782 S144R probably benign Het
Synpo2 T C 3: 123,114,179 E496G possibly damaging Het
Tbcel T C 9: 42,439,131 T269A probably benign Het
Tmem156 A G 5: 65,075,764 Y152H probably benign Het
Tmem247 A G 17: 86,918,429 E99G probably damaging Het
Tuba3b A G 6: 145,619,724 D306G possibly damaging Het
Vps13c T A 9: 67,951,642 D2791E possibly damaging Het
Ypel4 A G 2: 84,737,527 Y98C probably damaging Het
Other mutations in Olfr566
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02295:Olfr566 APN 7 102856824 missense probably benign
PIT4382001:Olfr566 UTSW 7 102856602 missense probably damaging 1.00
R1337:Olfr566 UTSW 7 102856871 missense probably benign 0.03
R1791:Olfr566 UTSW 7 102856362 nonsense probably null
R3953:Olfr566 UTSW 7 102856617 missense probably damaging 0.97
R3954:Olfr566 UTSW 7 102856617 missense probably damaging 0.97
R3955:Olfr566 UTSW 7 102856617 missense probably damaging 0.97
R3957:Olfr566 UTSW 7 102856617 missense probably damaging 0.97
R4734:Olfr566 UTSW 7 102856979 missense probably damaging 0.99
R5182:Olfr566 UTSW 7 102856969 missense probably benign 0.07
R5394:Olfr566 UTSW 7 102856479 missense probably damaging 1.00
R5559:Olfr566 UTSW 7 102857207 missense possibly damaging 0.94
R6023:Olfr566 UTSW 7 102856962 missense possibly damaging 0.95
R6310:Olfr566 UTSW 7 102857205 missense probably benign 0.01
R7312:Olfr566 UTSW 7 102856499 missense probably damaging 1.00
R7493:Olfr566 UTSW 7 102857071 nonsense probably null
R8409:Olfr566 UTSW 7 102857270 missense probably benign 0.01
R8476:Olfr566 UTSW 7 102856945 missense probably benign 0.22
Z1177:Olfr566 UTSW 7 102856374 missense probably benign 0.03
Posted On2016-08-02