Incidental Mutation 'IGL01071:Olfr305'
ID51450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr305
Ensembl Gene ENSMUSG00000055571
Gene Nameolfactory receptor 305
SynonymsMOR219-2, GA_x6K02T2NHDJ-9744055-9745014
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL01071
Quality Score
Status
Chromosome7
Chromosomal Location86360854-86366928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86363560 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 259 (K259R)
Ref Sequence ENSEMBL: ENSMUSP00000149883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069236] [ENSMUST00000213255] [ENSMUST00000213869] [ENSMUST00000216700]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069236
AA Change: K259R

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: K259R

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-40 PFAM
Pfam:7tm_1 39 288 3.3e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213255
AA Change: K259R

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213869
AA Change: K259R

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216700
AA Change: K259R

PolyPhen 2 Score 0.459 (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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,953,153 D124A probably damaging Het
Arhgef17 C A 7: 100,885,700 V1137L probably damaging Het
Birc6 A G 17: 74,566,132 D462G possibly damaging Het
Birc6 A T 17: 74,631,701 N2701Y probably damaging Het
Cadps C T 14: 12,509,091 probably null Het
Camk2a T C 18: 60,980,156 probably null Het
Capn10 T A 1: 92,945,075 W508R probably damaging Het
Cntn3 A T 6: 102,420,251 probably null Het
Crisp4 A G 1: 18,137,007 V19A probably benign Het
Depdc1b A T 13: 108,357,441 Y121F probably benign Het
Dsg1b T A 18: 20,409,215 S926R probably damaging Het
Eml6 A G 11: 29,850,816 probably null Het
Fam208a T A 14: 27,442,622 probably null Het
Gm26938 A C 5: 139,808,473 V117G possibly damaging Het
Keg1 T A 19: 12,719,000 Y183N probably damaging Het
Mpi A T 9: 57,550,592 I109N probably damaging Het
Olfr1217 A G 2: 89,023,175 V276A probably benign Het
Olfr53 C T 7: 140,652,914 H312Y possibly damaging Het
Olfr530 C T 7: 140,373,185 A142T probably benign Het
Pcdhb20 A G 18: 37,504,685 E88G possibly damaging Het
Pde6b G A 5: 108,419,715 W290* probably null Het
Phf20 T A 2: 156,294,088 probably null Het
Pkd1l1 A T 11: 8,848,921 H1830Q probably benign Het
Proc T C 18: 32,123,717 D299G probably damaging Het
Psmd14 A G 2: 61,800,063 T306A probably benign Het
Rab32 G A 10: 10,557,847 A81V probably damaging Het
Samd14 G A 11: 95,021,468 probably benign Het
Sh3rf1 T A 8: 61,225,959 C12S probably damaging Het
Sipa1l3 C T 7: 29,324,220 V663M possibly damaging Het
Slc2a5 A G 4: 150,120,733 probably benign Het
Tbkbp1 T C 11: 97,149,562 I9V probably damaging Het
Trip10 C A 17: 57,254,332 R196S possibly damaging Het
Vav1 T C 17: 57,299,176 Y267H probably benign Het
Wdr1 T C 5: 38,530,067 K207R probably benign Het
Other mutations in Olfr305
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02102:Olfr305 APN 7 86363866 missense probably benign 0.25
IGL02424:Olfr305 APN 7 86363480 missense probably benign 0.02
IGL02664:Olfr305 APN 7 86363603 missense possibly damaging 0.94
IGL03167:Olfr305 APN 7 86363920 missense probably damaging 1.00
R0035:Olfr305 UTSW 7 86364187 missense possibly damaging 0.95
R0373:Olfr305 UTSW 7 86363805 nonsense probably null
R0510:Olfr305 UTSW 7 86363827 missense probably benign 0.21
R2214:Olfr305 UTSW 7 86364206 missense probably benign 0.01
R3147:Olfr305 UTSW 7 86363884 missense probably benign 0.01
R3623:Olfr305 UTSW 7 86364100 missense probably benign 0.02
R4155:Olfr305 UTSW 7 86364062 missense probably benign 0.00
R4332:Olfr305 UTSW 7 86363872 missense probably benign 0.01
R4785:Olfr305 UTSW 7 86363735 missense probably damaging 1.00
R4834:Olfr305 UTSW 7 86363744 missense probably benign 0.21
R4871:Olfr305 UTSW 7 86363484 missense probably damaging 1.00
R5161:Olfr305 UTSW 7 86364338 unclassified probably null
R5254:Olfr305 UTSW 7 86364190 missense possibly damaging 0.82
R6430:Olfr305 UTSW 7 86363973 nonsense probably null
R7734:Olfr305 UTSW 7 86364268 missense not run
RF010:Olfr305 UTSW 7 86363386 missense probably benign 0.03
Posted On2013-06-21