Incidental Mutation 'IGL02346:Olfr27'
ID289262
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 #IGL02346
Quality Score
Status
Chromosome9
Chromosomal Location39128131-39145072 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39144643 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 181 (L181P)
Ref Sequence ENSEMBL: ENSMUSP00000150009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214052] [ENSMUST00000216405]
Predicted Effect probably damaging
Transcript: ENSMUST00000057811
AA Change: L181P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110642
Gene: ENSMUSG00000049708
AA Change: L181P

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: L181P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216405
AA Change: L181P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,238,699 I1948F probably damaging Het
Adgre1 T C 17: 57,443,919 V531A probably benign Het
Ano3 A T 2: 110,770,926 probably benign Het
Api5 A T 2: 94,427,530 F125I possibly damaging Het
Arhgap21 A G 2: 20,879,951 probably benign Het
Atp13a5 T A 16: 29,327,736 K247* probably null Het
Ccdc58 T C 16: 36,091,835 V87A probably damaging Het
Col9a1 C T 1: 24,223,609 A585V probably damaging Het
Eef1akmt3 A G 10: 127,032,936 V223A probably benign Het
Eml1 T C 12: 108,537,441 S766P possibly damaging Het
Fam13b G T 18: 34,462,105 A402E probably benign Het
Gad2 A G 2: 22,629,939 probably benign Het
Gbf1 A G 19: 46,285,930 E1859G probably damaging Het
Gli3 T G 13: 15,723,693 V786G probably damaging Het
Gm5592 A G 7: 41,289,465 S724G probably damaging Het
Hgs A G 11: 120,482,551 Y634C probably damaging Het
Hoxa3 T A 6: 52,170,599 probably benign Het
Id4 C A 13: 48,261,713 Y72* probably null Het
Il5ra T A 6: 106,742,658 E71D probably benign Het
Kcnh4 G A 11: 100,756,942 T168M possibly damaging Het
Kdm3b A T 18: 34,834,238 I1699L probably damaging Het
Madd A G 2: 91,162,491 Y1048H probably damaging Het
Nr2f1 C A 13: 78,195,408 V246L probably damaging Het
Oas2 A T 5: 120,736,088 I560N probably benign Het
Olfr24 T C 9: 18,754,769 I289V probably damaging Het
Olfr346 A T 2: 36,688,004 M1L probably benign Het
Pclo A G 5: 14,677,538 probably benign Het
Pdss2 T C 10: 43,345,643 F184L possibly damaging Het
Prpf39 C T 12: 65,057,736 T525I probably benign Het
Ralgps1 A T 2: 33,157,770 probably null Het
Rasal3 A G 17: 32,399,349 W161R probably damaging Het
Sema5b T A 16: 35,649,755 V329D probably damaging Het
Serpinb9g A T 13: 33,486,531 M1L probably benign Het
Sptb C T 12: 76,621,014 D770N probably damaging Het
Tdp2 T C 13: 24,841,352 V368A possibly damaging Het
Uggt1 A G 1: 36,179,670 S59P probably benign Het
Vmn2r9 T A 5: 108,842,984 N837I probably benign Het
Vmn2r-ps130 T C 17: 23,061,527 V54A possibly damaging Het
Wdr7 A T 18: 63,865,336 E1118V probably benign Het
Wwox A G 8: 114,712,118 H308R probably benign Het
Zbtb41 C A 1: 139,447,100 P766Q probably damaging Het
Other mutations in Olfr27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Olfr27 APN 9 39144757 missense possibly damaging 0.94
IGL00905:Olfr27 APN 9 39145030 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 On2015-04-16