Incidental Mutation 'IGL00159:Olfr272'
ID1734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr272
Ensembl Gene ENSMUSG00000051593
Gene Nameolfactory receptor 272
SynonymsGA_x6K02T2N78B-7084885-7085844, MOR262-7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL00159
Quality Score
Status
Chromosome4
Chromosomal Location52910207-52919178 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 52911618 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 59 (M59L)
Ref Sequence ENSEMBL: ENSMUSP00000149339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051600] [ENSMUST00000107667] [ENSMUST00000213989]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051600
AA Change: M59L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055721
Gene: ENSMUSG00000051593
AA Change: M59L

DomainStartEndE-ValueType
Pfam:7tm_4 31 314 1.6e-54 PFAM
Pfam:7tm_1 41 296 9.5e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107667
AA Change: M59L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103294
Gene: ENSMUSG00000051593
AA Change: M59L

DomainStartEndE-ValueType
Pfam:7tm_1 39 294 9.5e-33 PFAM
Pfam:7tm_4 138 287 3.3e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213989
AA Change: M59L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217085
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik G A 7: 118,797,047 probably null Het
Axin1 A T 17: 26,142,805 D41V possibly damaging Het
BC034090 C A 1: 155,225,451 E718* probably null Het
Cdc123 G T 2: 5,804,935 Q222K probably benign Het
Clip1 A C 5: 123,603,654 V1053G possibly damaging Het
Dock7 T A 4: 99,063,985 E416V probably damaging Het
Dydc1 T C 14: 41,087,413 L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 V732A probably benign Het
Dzip1l T A 9: 99,637,777 L119Q probably damaging Het
Erp27 T A 6: 136,909,502 S178C probably damaging Het
Fbn1 A G 2: 125,397,873 V298A probably benign Het
Fbxo34 A G 14: 47,529,474 H97R probably damaging Het
Gm20521 C T 14: 54,884,622 Q81* probably null Het
Gspt1 T C 16: 11,222,612 M610V probably damaging Het
Herc1 A G 9: 66,437,682 Q1919R possibly damaging Het
Il19 A G 1: 130,935,055 probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lrrk2 A G 15: 91,747,799 K1309E possibly damaging Het
Lurap1 T C 4: 116,137,690 T115A probably damaging Het
Myo18b G T 5: 112,874,131 T465K probably benign Het
Nwd1 A T 8: 72,671,077 D648V probably damaging Het
Olfr520 G A 7: 99,735,317 R58H probably benign Het
Otof T C 5: 30,375,904 Y1527C probably damaging Het
Otop3 G A 11: 115,344,397 C285Y probably damaging Het
Parp3 A G 9: 106,471,387 I478T probably benign Het
Pdzd2 C T 15: 12,457,983 E265K possibly damaging Het
Pik3c2g T C 6: 139,896,125 L634P probably damaging Het
Prkg1 C A 19: 31,302,340 V165L probably benign Het
Riok3 A G 18: 12,148,891 I306V possibly damaging Het
Ror2 T C 13: 53,113,082 D439G probably benign Het
Scn2a T A 2: 65,743,090 I1428N probably damaging Het
Sgcg C T 14: 61,232,475 D146N probably benign Het
Slc16a9 A G 10: 70,282,699 R283G probably benign Het
Sptb T C 12: 76,621,331 D664G probably benign Het
Tmprss3 T A 17: 31,195,008 D54V probably damaging Het
Ttc37 T C 13: 76,143,278 probably null Het
Tubd1 G T 11: 86,565,729 V374F probably benign Het
Vmn2r57 A T 7: 41,428,785 M83K probably benign Het
Vps13c A G 9: 67,945,999 E2458G probably benign Het
Zhx2 A T 15: 57,822,870 E545V probably damaging Het
Other mutations in Olfr272
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02224:Olfr272 APN 4 52911392 missense probably damaging 0.97
IGL03293:Olfr272 APN 4 52910835 makesense probably null
K3955:Olfr272 UTSW 4 52911081 missense probably damaging 1.00
R0195:Olfr272 UTSW 4 52910849 missense probably benign 0.00
R0197:Olfr272 UTSW 4 52910849 missense probably benign 0.00
R0445:Olfr272 UTSW 4 52910849 missense probably benign 0.00
R1517:Olfr272 UTSW 4 52911502 nonsense probably null
R1536:Olfr272 UTSW 4 52911260 missense probably benign 0.43
R1540:Olfr272 UTSW 4 52910996 missense probably benign 0.00
R1551:Olfr272 UTSW 4 52911397 nonsense probably null
R1612:Olfr272 UTSW 4 52911501 missense probably benign
R1920:Olfr272 UTSW 4 52910849 missense probably benign
R2181:Olfr272 UTSW 4 52911524 missense probably damaging 1.00
R5410:Olfr272 UTSW 4 52910991 missense probably benign 0.01
R6331:Olfr272 UTSW 4 52911399 missense probably damaging 1.00
R6336:Olfr272 UTSW 4 52911459 missense probably damaging 1.00
R7085:Olfr272 UTSW 4 52910961 missense probably benign 0.02
R7541:Olfr272 UTSW 4 52911376 missense probably benign 0.04
R7727:Olfr272 UTSW 4 52911368 missense possibly damaging 0.89
R7891:Olfr272 UTSW 4 52911663 missense probably benign 0.01
R7974:Olfr272 UTSW 4 52911663 missense probably benign 0.01
Posted On2011-07-12