Incidental Mutation 'IGL03257:Or8k27'
ID 414689
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03257
Quality Score
Status
Chromosome 2
Chromosomal Location 86275357-86276348 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86276234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 31 (F31I)
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: F31I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097471
Gene: ENSMUSG00000075182
AA Change: F31I

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: F31I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216162
AA Change: F31I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216165
AA Change: F31I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217586
AA Change: F31I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C A 14: 118,852,623 (GRCm39) V489L probably benign Het
Alpk2 C A 18: 65,482,945 (GRCm39) E354D probably damaging Het
Ank1 A T 8: 23,612,914 (GRCm39) K1060M probably damaging Het
Cand2 A G 6: 115,776,944 (GRCm39) N1111D possibly damaging Het
Ccny A T 18: 9,386,747 (GRCm39) S73T possibly damaging Het
Clps T C 17: 28,779,634 (GRCm39) probably benign Het
Cnga1 C A 5: 72,768,205 (GRCm39) W160C probably damaging Het
Col6a5 T C 9: 105,759,072 (GRCm39) S2045G possibly damaging Het
Dennd4a T G 9: 64,779,156 (GRCm39) N546K possibly damaging Het
Efcab5 A T 11: 77,079,596 (GRCm39) M50K probably damaging Het
Fntb A G 12: 76,934,805 (GRCm39) H228R probably damaging Het
Gm4787 C T 12: 81,424,826 (GRCm39) C444Y probably damaging Het
Gpm6a A G 8: 55,490,507 (GRCm39) Y61C probably damaging Het
Grm5 T A 7: 87,252,106 (GRCm39) S119T possibly damaging Het
Igf1r T A 7: 67,864,688 (GRCm39) I1162N probably damaging Het
Irx5 A G 8: 93,087,258 (GRCm39) T397A probably benign Het
Kdm1b C T 13: 47,202,742 (GRCm39) T59M probably damaging Het
Lrrc9 T A 12: 72,496,542 (GRCm39) S57T probably benign Het
Nup210l A T 3: 90,087,455 (GRCm39) probably null Het
Or5p52 T C 7: 107,501,963 (GRCm39) I13T probably benign Het
Prl8a1 A G 13: 27,759,656 (GRCm39) I127T probably damaging Het
Psme1 T C 14: 55,818,086 (GRCm39) I142T probably damaging Het
Ptbp3 A T 4: 59,493,370 (GRCm39) probably benign Het
Rnf20 T A 4: 49,645,687 (GRCm39) N321K probably benign Het
Ttc23 T C 7: 67,361,126 (GRCm39) S340P probably damaging Het
Txnrd1 A T 10: 82,721,105 (GRCm39) K393I probably benign Het
Zfp365 A T 10: 67,724,868 (GRCm39) F340Y possibly damaging Het
Zfp451 C A 1: 33,816,129 (GRCm39) R607L possibly damaging Het
Zfp618 A G 4: 63,050,908 (GRCm39) Y563C probably damaging Het
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
D4043:Or8k27 UTSW 2 86,275,564 (GRCm39) missense probably damaging 0.99
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
Posted On 2016-08-02