Incidental Mutation 'IGL01695:Olfr576'
ID 104232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr576
Ensembl Gene ENSMUSG00000073962
Gene Name olfactory receptor 576
Synonyms MOR8-5, GA_x6K02T2PBJ9-5676385-5677371
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL01695
Quality Score
Status
Chromosome 7
Chromosomal Location 102962660-102975160 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102965583 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 161 (F161S)
Ref Sequence ENSEMBL: ENSMUSP00000142459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098213] [ENSMUST00000185326]
AlphaFold A0A0G2JFH3
Predicted Effect probably damaging
Transcript: ENSMUST00000098213
AA Change: F161S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143172
Gene: ENSMUSG00000073962
AA Change: F161S

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 probably damaging
Transcript: ENSMUST00000185326
AA Change: F161S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962
AA Change: F161S

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,265,193 V177A probably benign Het
Ap3b2 T A 7: 81,476,939 probably benign Het
Arfgef3 T C 10: 18,603,419 T1483A probably benign Het
Arl5a A T 2: 52,412,105 I99N probably damaging Het
Bahcc1 G A 11: 120,276,609 G1279R probably benign Het
Bbs5 A G 2: 69,649,090 N43S probably damaging Het
Cdh23 C T 10: 60,331,833 V1795M probably benign Het
Cep350 T C 1: 155,944,158 E353G probably damaging Het
Cps1 A T 1: 67,197,035 I976L probably benign Het
Ctdp1 A T 18: 80,449,626 S551R probably damaging Het
Cyp2b19 C T 7: 26,759,064 T68I probably damaging Het
Esr2 A G 12: 76,145,319 S312P probably damaging Het
Fam26e A G 10: 34,092,202 V285A possibly damaging Het
Gm11639 A T 11: 104,736,063 E864D probably damaging Het
Gm6408 A G 5: 146,482,129 probably benign Het
Krt9 A T 11: 100,191,437 probably null Het
Myh6 T C 14: 54,957,413 T662A probably benign Het
Ntn1 T C 11: 68,226,604 D473G probably benign Het
Piezo1 A T 8: 122,495,509 C961S possibly damaging Het
Pik3c2a T C 7: 116,417,518 T335A possibly damaging Het
Plaa A T 4: 94,574,037 Y140* probably null Het
Plxnb2 T C 15: 89,157,214 I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 N555K probably damaging Het
Ptprn2 T A 12: 116,841,388 H174Q probably benign Het
Reln G A 5: 21,920,438 T2749M probably damaging Het
Scarf1 A G 11: 75,521,957 N384S probably damaging Het
Scrt1 T A 15: 76,518,950 H280L unknown Het
Serpina1f C A 12: 103,693,684 C113F probably damaging Het
Setdb2 A T 14: 59,402,293 probably benign Het
Strc A G 2: 121,375,298 L830P probably damaging Het
Tifab T C 13: 56,176,385 S82G probably benign Het
Tmem217 T A 17: 29,526,348 H136L probably damaging Het
Trio T C 15: 27,773,001 E715G probably damaging Het
Ttn A T 2: 76,944,016 M2182K probably damaging Het
Ube2d1 T C 10: 71,262,252 D12G probably damaging Het
Utrn T C 10: 12,745,342 D195G probably benign Het
Other mutations in Olfr576
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Olfr576 APN 7 102966028 splice site probably benign
IGL01707:Olfr576 APN 7 102965919 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 splice site 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
R9002:Olfr576 UTSW 7 102965411 missense probably damaging 1.00
R9590:Olfr576 UTSW 7 102965346 missense probably benign 0.07
Posted On 2014-01-21