Incidental Mutation 'IGL02114:Olfr273'
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ID280283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr273
Ensembl Gene ENSMUSG00000049648
Gene Nameolfactory receptor 273
SynonymsGA_x6K02T2N78B-7137430-7138383, MOR262-8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL02114
Quality Score
Status
Chromosome4
Chromosomal Location52852154-52859236 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52856144 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 123 (Y123F)
Ref Sequence ENSEMBL: ENSMUSP00000103297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051520] [ENSMUST00000107670] [ENSMUST00000215274]
Predicted Effect probably damaging
Transcript: ENSMUST00000051520
AA Change: Y123F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052080
Gene: ENSMUSG00000049648
AA Change: Y123F

DomainStartEndE-ValueType
Pfam:7tm_4 31 314 1.3e-55 PFAM
Pfam:7tm_1 41 296 1.4e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107670
AA Change: Y123F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103297
Gene: ENSMUSG00000049648
AA Change: Y123F

DomainStartEndE-ValueType
Pfam:7tm_1 41 296 3.2e-37 PFAM
Pfam:7tm_4 139 289 4e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215274
AA Change: Y123F

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
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
1700084J12Rik C A 15: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Aqp8 C A 7: 123,464,196 H90N probably damaging Het
Arih1 A T 9: 59,426,169 C229S probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Ecsit T C 9: 22,078,144 probably benign Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gja8 T C 3: 96,920,025 K107R probably benign Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Kcne3 T A 7: 100,184,490 probably benign Het
Larp1 T C 11: 58,057,055 Y926H probably damaging Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
Qdpr G A 5: 45,434,676 T106I possibly damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Traf2 T C 2: 25,524,992 I286V possibly damaging Het
Vmn2r30 T C 7: 7,337,409 I29V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Olfr273
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0048:Olfr273 UTSW 4 52856196 missense probably damaging 1.00
R0048:Olfr273 UTSW 4 52856196 missense probably damaging 1.00
R0826:Olfr273 UTSW 4 52855566 missense probably benign
R0831:Olfr273 UTSW 4 52855764 missense possibly damaging 0.46
R1772:Olfr273 UTSW 4 52855730 missense probably benign 0.30
R1774:Olfr273 UTSW 4 52855674 missense probably benign 0.01
R1861:Olfr273 UTSW 4 52856373 missense probably benign 0.00
R2080:Olfr273 UTSW 4 52855568 missense probably benign 0.20
R2242:Olfr273 UTSW 4 52855769 missense probably damaging 1.00
R3777:Olfr273 UTSW 4 52855636 missense probably damaging 1.00
R4492:Olfr273 UTSW 4 52855764 missense probably benign 0.01
R4748:Olfr273 UTSW 4 52856076 missense possibly damaging 0.95
R4880:Olfr273 UTSW 4 52856411 missense probably damaging 1.00
R4905:Olfr273 UTSW 4 52855613 missense probably damaging 0.99
R5856:Olfr273 UTSW 4 52856516 start gained probably benign
R6585:Olfr273 UTSW 4 52856192 missense possibly damaging 0.84
R6862:Olfr273 UTSW 4 52855695 missense probably benign
R7378:Olfr273 UTSW 4 52856421 missense probably benign
R7649:Olfr273 UTSW 4 52855692 nonsense probably null
Posted On2015-04-16