Incidental Mutation 'D4043:Or8k27'
ID 263
Institutional Source Beutler Lab
Gene Symbol Or8k27
Ensembl Gene ENSMUSG00000111306
Gene Name olfactory receptor family 8 subfamily K member 27
Synonyms Olfr1065, GA_x6K02T2Q125-47915274-47914333, MOR190-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # D4043 (G3) of strain 483
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 86275357-86276348 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86275564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 254 (T254M)
Ref Sequence ENSEMBL: ENSMUSP00000149248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000213789] [ENSMUST00000216162] [ENSMUST00000216165] [ENSMUST00000217586]
AlphaFold Q7TR70
Predicted Effect probably damaging
Transcript: ENSMUST00000099886
AA Change: T254M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097471
Gene: ENSMUSG00000075182
AA Change: T254M

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.1e-53 PFAM
Pfam:7tm_1 41 290 1.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213789
AA Change: T254M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216162
AA Change: T254M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216165
AA Change: T254M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217586
AA Change: T254M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 72.5%
Validation Efficiency 88% (220/249)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 56,325,496 (GRCm39) C319* probably null Het
Adgrg1 T C 8: 95,731,857 (GRCm39) probably null Homo
Ago3 A T 4: 126,244,796 (GRCm39) V630E probably damaging Het
Armc8 G T 9: 99,366,029 (GRCm39) N628K probably benign Het
Cfap96 A G 8: 46,409,440 (GRCm39) V293A probably damaging Het
Chd7 A G 4: 8,862,650 (GRCm39) D2579G probably damaging Het
Duox1 G A 2: 122,175,276 (GRCm39) C1358Y probably benign Het
Ftsj3 C A 11: 106,145,634 (GRCm39) M66I possibly damaging Homo
Iqub C T 6: 24,505,750 (GRCm39) E53K possibly damaging Het
Kirrel1 T A 3: 86,990,510 (GRCm39) T771S probably benign Het
Lrrc66 A T 5: 73,764,869 (GRCm39) S725T probably benign Het
Mael T C 1: 166,064,455 (GRCm39) I104M probably benign Homo
Mkks C T 2: 136,716,530 (GRCm39) V457I probably benign Het
Nadk2 T A 15: 9,103,473 (GRCm39) probably benign Homo
Npas1 T C 7: 16,197,169 (GRCm39) probably null Het
Ocrl T C X: 47,025,200 (GRCm39) V359A probably benign Homo
Pde6b C T 5: 108,573,222 (GRCm39) R531* probably null Het
Polr1a G A 6: 71,918,401 (GRCm39) C653Y possibly damaging Het
Rbm26 A G 14: 105,389,976 (GRCm39) V216A possibly damaging Het
Rin2 C A 2: 145,664,283 (GRCm39) H52Q possibly damaging Het
Ssc5d C T 7: 4,946,982 (GRCm39) T1112I possibly damaging Het
Sv2c C T 13: 96,224,989 (GRCm39) V107M probably benign Het
Tasor A G 14: 27,193,949 (GRCm39) I1050V probably benign Het
Tulp3 G A 6: 128,301,113 (GRCm39) S366L probably benign Het
Zfp831 T A 2: 174,487,059 (GRCm39) V578E probably benign Homo
Other mutations in Or8k27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03133:Or8k27 APN 2 86,276,002 (GRCm39) missense probably damaging 0.99
IGL03173:Or8k27 APN 2 86,275,788 (GRCm39) nonsense probably null
IGL03257:Or8k27 APN 2 86,276,234 (GRCm39) missense probably damaging 0.98
R0265:Or8k27 UTSW 2 86,276,303 (GRCm39) missense probably benign 0.00
R0550:Or8k27 UTSW 2 86,276,220 (GRCm39) nonsense probably null
R0633:Or8k27 UTSW 2 86,275,473 (GRCm39) missense probably benign 0.45
R0727:Or8k27 UTSW 2 86,276,282 (GRCm39) missense probably benign 0.00
R1017:Or8k27 UTSW 2 86,275,772 (GRCm39) missense probably benign 0.13
R1416:Or8k27 UTSW 2 86,275,664 (GRCm39) missense probably benign 0.43
R1657:Or8k27 UTSW 2 86,275,562 (GRCm39) missense probably damaging 1.00
R1983:Or8k27 UTSW 2 86,275,420 (GRCm39) missense probably benign 0.01
R3919:Or8k27 UTSW 2 86,275,762 (GRCm39) missense probably benign 0.01
R4345:Or8k27 UTSW 2 86,276,189 (GRCm39) missense probably damaging 1.00
R5382:Or8k27 UTSW 2 86,275,660 (GRCm39) missense probably damaging 0.99
R5757:Or8k27 UTSW 2 86,275,922 (GRCm39) missense probably benign 0.22
R6530:Or8k27 UTSW 2 86,275,826 (GRCm39) missense probably benign 0.31
R6765:Or8k27 UTSW 2 86,275,580 (GRCm39) missense probably benign 0.04
R6856:Or8k27 UTSW 2 86,276,251 (GRCm39) missense probably benign 0.04
R7156:Or8k27 UTSW 2 86,275,652 (GRCm39) missense probably damaging 1.00
R8239:Or8k27 UTSW 2 86,275,473 (GRCm39) missense noncoding transcript
R8338:Or8k27 UTSW 2 86,275,729 (GRCm39) missense probably benign 0.00
R8909:Or8k27 UTSW 2 86,276,082 (GRCm39) missense possibly damaging 0.80
R9469:Or8k27 UTSW 2 86,275,787 (GRCm39) missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 785 of the Olfr1065 transcript. The mutated nucleotide causes a threonine to methionine substitution at amino acid 254 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Olfr1065 gene encodes the 313 amino acid olfactory receptor 1065. Olfactory receptors are G-protein coupled receptors (GPCRs). Like other GPCRs, OLFR1065 contains seven transmembrane domains, an extracellular N-terminus, and a cytoplasmic C-terminus (Uniprot Q7TR70).
 
The T254M change is predicted to be benign by the PolyPhen program.
Posted On 2010-08-09