Incidental Mutation 'IGL01707:Olfr576'
ID104625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr576
Ensembl Gene ENSMUSG00000073962
Gene Nameolfactory receptor 576
SynonymsMOR8-5, GA_x6K02T2PBJ9-5676385-5677371
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL01707
Quality Score
Status
Chromosome7
Chromosomal Location102962660-102975160 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102965919 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 273 (I273T)
Ref Sequence ENSEMBL: ENSMUSP00000143172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098213] [ENSMUST00000185326]
Predicted Effect probably damaging
Transcript: ENSMUST00000098213
AA Change: I273T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143172
Gene: ENSMUSG00000073962
AA Change: I273T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 301 6.2e-12 PFAM
Pfam:7tm_1 41 291 2.5e-29 PFAM
Pfam:7tm_4 140 284 3.1e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000185326
AA Change: I273T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962
AA Change: I273T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 300 9.7e-12 PFAM
Pfam:7tm_1 41 291 1.8e-29 PFAM
Pfam:7tm_4 140 284 2.6e-28 PFAM
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C A 19: 57,039,447 R404L probably damaging Het
Acot6 C A 12: 84,100,989 S6R probably benign Het
Adamtsl4 T A 3: 95,683,991 Q222L probably benign Het
Adgre5 T A 8: 83,724,347 T725S probably damaging Het
Agbl3 A T 6: 34,839,454 K766N possibly damaging Het
Ankrd12 A G 17: 65,984,278 S1387P probably damaging Het
Camk2a G A 18: 60,960,050 probably null Het
Cd209d T C 8: 3,878,296 I30V probably benign Het
Ces1d A T 8: 93,189,550 S150T possibly damaging Het
Cox4i2 T C 2: 152,757,036 Y38H probably damaging Het
Csmd2 T C 4: 128,383,005 Y867H possibly damaging Het
Dbh G A 2: 27,165,544 C10Y probably benign Het
Dnajc13 A G 9: 104,228,979 V332A probably damaging Het
Gnb3 G T 6: 124,839,689 A11E possibly damaging Het
Herc2 A G 7: 56,165,187 R2725G probably damaging Het
Kdm4c C T 4: 74,336,927 L573F probably damaging Het
Kmt2c T A 5: 25,300,098 Q3404L probably damaging Het
Mmp9 A G 2: 164,949,989 H231R probably benign Het
Nphp3 A T 9: 104,018,158 D371V possibly damaging Het
Nphp4 A G 4: 152,538,983 I705V probably benign Het
Nutm2 A T 13: 50,469,717 N150I probably damaging Het
Olfr611 A T 7: 103,517,934 I150N probably damaging Het
Phb2 A G 6: 124,714,035 Q52R probably benign Het
Plekhh1 T A 12: 79,078,964 V1258E probably benign Het
Pou2f1 A T 1: 165,915,116 N69K probably damaging Het
Rapsn T A 2: 91,043,240 M297K probably benign Het
Senp5 A C 16: 31,989,770 V195G probably damaging Het
Trim25 T C 11: 88,999,691 V68A probably damaging Het
Ttc41 A T 10: 86,776,767 R1301S probably damaging Het
Vcan T C 13: 89,689,745 Y1600C probably damaging Het
Washc5 A G 15: 59,342,015 I864T possibly damaging Het
Wif1 T A 10: 121,083,985 probably null Het
Zdhhc15 G A X: 104,565,816 R208C probably damaging Het
Other mutations in Olfr576
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Olfr576 APN 7 102966028 splice site probably benign
IGL01695:Olfr576 APN 7 102965583 missense probably damaging 0.97
IGL02637:Olfr576 APN 7 102973043 utr 3 prime probably benign
R1636:Olfr576 UTSW 7 102965691 missense possibly damaging 0.94
R3077:Olfr576 UTSW 7 102966016 missense probably benign 0.06
R3079:Olfr576 UTSW 7 102973047 unclassified probably null
R3803:Olfr576 UTSW 7 102966021 critical splice donor site probably null
R4342:Olfr576 UTSW 7 102966024 missense probably benign 0.03
R4866:Olfr576 UTSW 7 102965720 missense probably benign 0.01
R5193:Olfr576 UTSW 7 102965936 missense possibly damaging 0.52
R5194:Olfr576 UTSW 7 102965864 missense probably benign 0.01
Posted On2014-01-21