Incidental Mutation 'IGL00095:Olfr509'
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ID1454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr509
Ensembl Gene ENSMUSG00000049280
Gene Nameolfactory receptor 509
SynonymsGA_x6K02T2PBJ9-10976304-10975339, MOR267-14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL00095
Quality Score
Status
Chromosome7
Chromosomal Location108644336-108651906 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108645836 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 247 (F247I)
Ref Sequence ENSEMBL: ENSMUSP00000150157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061690] [ENSMUST00000213756] [ENSMUST00000214861] [ENSMUST00000215075]
Predicted Effect probably benign
Transcript: ENSMUST00000061690
AA Change: F247I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053819
Gene: ENSMUSG00000049280
AA Change: F247I

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 1.8e-42 PFAM
Pfam:7tm_1 39 288 1.5e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213756
AA Change: F247I

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214861
AA Change: F247I

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215075
AA Change: F247I

PolyPhen 2 Score 0.473 (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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,882,751 Y65N probably damaging Het
Catsperg2 C A 7: 29,698,058 C1042F possibly damaging Het
Cluh T C 11: 74,664,064 V776A probably benign Het
Crxos T A 7: 15,898,618 C116* probably null Het
Csmd1 A G 8: 16,009,297 probably benign Het
Cubn C A 2: 13,491,820 probably benign Het
Exoc2 A G 13: 30,820,626 I858T probably benign Het
Fam105a A G 15: 27,658,116 S273P possibly damaging Het
Frmpd1 C A 4: 45,279,456 T727K possibly damaging Het
Gm3139 T C 5: 94,537,804 L441P probably damaging Het
Hapln3 T C 7: 79,121,983 T53A probably damaging Het
Hnrnpul1 T A 7: 25,726,154 Q584L possibly damaging Het
Ikbkb A T 8: 22,706,111 F26I probably damaging Het
Il31ra A T 13: 112,547,478 I120N possibly damaging Het
Itih1 C T 14: 30,929,821 V855M probably benign Het
Krtap4-16 A G 11: 99,851,206 S123P possibly damaging Het
Large1 C T 8: 72,837,497 R547Q probably damaging Het
Madd A G 2: 91,175,766 probably benign Het
Mark1 A G 1: 184,898,603 V770A probably damaging Het
Mpeg1 T C 19: 12,462,710 F511L probably benign Het
Mrgpra9 A G 7: 47,235,091 V276A possibly damaging Het
Nav3 T C 10: 109,841,733 T666A probably damaging Het
Ndufa8 T C 2: 36,044,455 D37G probably damaging Het
Nlrx1 A G 9: 44,253,279 L956P probably damaging Het
Nr5a1 T C 2: 38,708,341 E148G probably benign Het
Olfr310 T C 7: 86,269,669 N40S probably damaging Het
Patj A C 4: 98,535,562 Q1184P possibly damaging Het
Phf20l1 A G 15: 66,629,035 T619A probably benign Het
Pla2g6 T C 15: 79,289,241 T643A probably damaging Het
Radil A G 5: 142,497,922 S510P probably damaging Het
Spock1 A G 13: 57,587,739 probably benign Het
Stag3 C T 5: 138,299,138 T577M probably damaging Het
Tap2 C T 17: 34,215,378 R613C probably benign Het
Tnn A G 1: 160,125,451 V673A possibly damaging Het
Trrap T C 5: 144,779,974 probably benign Het
Vmn2r28 T C 7: 5,488,069 D393G probably benign Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Zc3h12d T C 10: 7,862,467 V179A probably damaging Het
Other mutations in Olfr509
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Olfr509 APN 7 108646013 missense probably damaging 0.99
IGL02721:Olfr509 APN 7 108646375 nonsense probably null
IGL03170:Olfr509 APN 7 108646100 missense probably benign 0.00
R0746:Olfr509 UTSW 7 108646041 missense probably damaging 1.00
R0863:Olfr509 UTSW 7 108645658 missense probably benign 0.00
R1791:Olfr509 UTSW 7 108646364 missense probably benign 0.30
R4128:Olfr509 UTSW 7 108646426 missense probably benign 0.03
R5290:Olfr509 UTSW 7 108646548 missense probably benign
R5878:Olfr509 UTSW 7 108645739 missense probably damaging 1.00
R6030:Olfr509 UTSW 7 108646226 missense possibly damaging 0.87
R6030:Olfr509 UTSW 7 108646226 missense possibly damaging 0.87
R6545:Olfr509 UTSW 7 108646455 missense probably damaging 1.00
R7699:Olfr509 UTSW 7 108645672 missense probably damaging 1.00
R7700:Olfr509 UTSW 7 108645672 missense probably damaging 1.00
R8247:Olfr509 UTSW 7 108646163 missense probably damaging 0.97
Z1176:Olfr509 UTSW 7 108645767 missense possibly damaging 0.88
Posted On2011-07-12