Incidental Mutation 'IGL02167:Olfr17'
ID282750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr17
Ensembl Gene ENSMUSG00000073897
Gene Nameolfactory receptor 17
SynonymsP2, MOR263-5, GA_x6K02T2PBJ9-9470146-9471093
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02167
Quality Score
Status
Chromosome7
Chromosomal Location107093220-107099808 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107097661 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 65 (R65S)
Ref Sequence ENSEMBL: ENSMUSP00000147931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098138] [ENSMUST00000210568]
Predicted Effect probably benign
Transcript: ENSMUST00000098138
AA Change: R65S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095741
Gene: ENSMUSG00000073897
AA Change: R65S

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 2.6e-58 PFAM
Pfam:7tm_1 42 291 2.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210568
AA Change: R65S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
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]
PHENOTYPE: Mice homozygous for disruptions in this gene possess olfactory neurons whose axons fail to project to the appropriate glomeruli in the olfactopry bulb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,722 probably benign Het
Cacna1f T C X: 7,616,019 Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 R1416H probably damaging Het
Ccdc117 T C 11: 5,531,333 E266G possibly damaging Het
Ccdc9 A T 7: 16,284,359 L8* probably null Het
Cited2 T C 10: 17,724,270 S109P probably benign Het
Cnot4 T C 6: 35,056,224 D286G possibly damaging Het
Col5a1 T C 2: 28,018,556 I52T probably benign Het
Cry2 T C 2: 92,433,821 N68S possibly damaging Het
Cul4a T C 8: 13,122,826 F153S probably damaging Het
Ddr1 T C 17: 35,690,071 S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 probably benign Het
Epha8 A T 4: 136,931,094 M990K probably damaging Het
Gpr137c G T 14: 45,279,955 G383C probably damaging Het
Hydin T A 8: 110,418,423 I802N possibly damaging Het
Ifne A G 4: 88,879,828 Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 probably benign Het
Lig4 T A 8: 9,971,821 N653I probably benign Het
Nagk A G 6: 83,801,106 D246G probably damaging Het
Nav1 A G 1: 135,470,961 S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 probably benign Het
Nynrin G T 14: 55,863,335 R194L probably damaging Het
Olfr1115 G A 2: 87,252,198 C87Y probably benign Het
Olfr45 T A 7: 140,691,751 V282D probably damaging Het
Orc2 A T 1: 58,483,639 probably benign Het
Oxgr1 T A 14: 120,021,930 R288S probably damaging Het
Prkcg T C 7: 3,322,581 probably null Het
Prox1 T C 1: 190,161,280 N323D probably benign Het
Prrt1 A C 17: 34,631,855 E215A possibly damaging Het
Rab2b T C 14: 52,268,696 D103G probably damaging Het
Sardh G T 2: 27,191,975 N846K probably damaging Het
Slc38a8 T A 8: 119,487,360 T248S probably benign Het
Slc6a18 T C 13: 73,666,472 probably null Het
Smcp T C 3: 92,584,199 T114A unknown Het
Tmem8 T C 17: 26,119,071 S450P probably damaging Het
Trpv1 A G 11: 73,254,797 N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 H243L probably benign Het
Wdfy3 T C 5: 101,961,157 M125V probably damaging Het
Wnk2 T C 13: 49,071,125 probably null Het
Wrn T C 8: 33,317,555 M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 H97R probably damaging Het
Zfp68 T A 5: 138,606,367 M565L probably benign Het
Zfp687 T C 3: 95,010,530 T644A probably benign Het
Zfp777 C T 6: 48,044,526 G54D probably damaging Het
Other mutations in Olfr17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0540:Olfr17 UTSW 7 107097726 missense probably benign 0.25
R0607:Olfr17 UTSW 7 107097726 missense probably benign 0.25
R1566:Olfr17 UTSW 7 107097552 missense probably damaging 1.00
R1667:Olfr17 UTSW 7 107097770 missense probably benign 0.00
R2122:Olfr17 UTSW 7 107098109 missense probably damaging 1.00
R3800:Olfr17 UTSW 7 107097731 nonsense probably null
R3825:Olfr17 UTSW 7 107097609 missense possibly damaging 0.88
R4722:Olfr17 UTSW 7 107097570 missense possibly damaging 0.88
R6253:Olfr17 UTSW 7 107098257 missense possibly damaging 0.48
R6470:Olfr17 UTSW 7 107097744 missense probably damaging 1.00
R7214:Olfr17 UTSW 7 107098412 makesense probably null
Z1177:Olfr17 UTSW 7 107097841 missense probably benign
Posted On2015-04-16