Incidental Mutation 'IGL00905:Olfr27'
ID28128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr27
Ensembl Gene ENSMUSG00000049708
Gene Nameolfactory receptor 27
SynonymsMOR171-6, GA_x6K02T2PVTD-32841223-32842158, MTPCR56
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL00905
Quality Score
Status
Chromosome9
Chromosomal Location39128131-39145072 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 39145030 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Cysteine at position 310 (F310C)
Ref Sequence ENSEMBL: ENSMUSP00000150009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214052] [ENSMUST00000216405]
Predicted Effect probably damaging
Transcript: ENSMUST00000057811
AA Change: F310C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110642
Gene: ENSMUSG00000049708
AA Change: F310C

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.6e-49 PFAM
Pfam:7tm_1 41 290 2.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214052
AA Change: F310C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216405
AA Change: F310C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 101,300,166 E58G probably damaging Het
D130040H23Rik A T 8: 69,300,770 K16I possibly damaging Het
D630003M21Rik T C 2: 158,213,412 T602A possibly damaging Het
Fam161b C T 12: 84,357,685 V74I probably benign Het
Gm13023 A G 4: 143,795,274 T487A probably benign Het
Grk1 A G 8: 13,416,068 E504G probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
L3mbtl3 C T 10: 26,313,846 probably null Het
Map1s A G 8: 70,906,029 probably benign Het
Mprip T C 11: 59,772,168 V982A possibly damaging Het
Olfr1107 A G 2: 87,071,219 I305T probably benign Het
Phf1 A T 17: 26,936,594 R378W possibly damaging Het
Ptpn3 A T 4: 57,270,050 D37E possibly damaging Het
Rcbtb1 A G 14: 59,228,305 S366G probably benign Het
Scn5a C A 9: 119,536,501 W360L probably damaging Het
Scrib A G 15: 76,064,990 F398S probably damaging Het
Slc25a47 C A 12: 108,855,388 T141K probably benign Het
Slc9a1 T A 4: 133,370,548 M2K probably benign Het
Tango6 G T 8: 106,742,472 probably null Het
Tmem231 A T 8: 111,918,440 probably benign Het
Tnr G A 1: 159,852,182 R242Q probably benign Het
Usp5 G A 6: 124,815,613 P821S probably damaging Het
Utp11 G T 4: 124,683,793 P63Q probably damaging Het
Vmn1r6 T A 6: 57,002,804 N128K probably damaging Het
Other mutations in Olfr27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Olfr27 APN 9 39144757 missense possibly damaging 0.94
IGL02346:Olfr27 APN 9 39144643 missense probably damaging 1.00
R0117:Olfr27 UTSW 9 39144850 missense probably damaging 1.00
R0118:Olfr27 UTSW 9 39144103 start codon destroyed probably null 0.97
R0590:Olfr27 UTSW 9 39144721 missense probably benign 0.01
R2915:Olfr27 UTSW 9 39144466 missense possibly damaging 0.94
R4299:Olfr27 UTSW 9 39144999 missense probably benign 0.11
R4367:Olfr27 UTSW 9 39144429 missense probably damaging 0.98
R4663:Olfr27 UTSW 9 39144849 missense probably damaging 0.97
R5276:Olfr27 UTSW 9 39144315 missense probably damaging 1.00
R5503:Olfr27 UTSW 9 39144484 missense probably benign 0.02
R5742:Olfr27 UTSW 9 39144678 missense probably benign 0.07
R5986:Olfr27 UTSW 9 39144982 missense probably null 1.00
R6801:Olfr27 UTSW 9 39144210 missense probably benign 0.01
R7247:Olfr27 UTSW 9 39144857 nonsense probably null
R7520:Olfr27 UTSW 9 39144118 missense probably benign
R7787:Olfr27 UTSW 9 39144252 missense probably benign 0.22
Posted On2013-04-17