Incidental Mutation 'IGL02676:Olfr1016'
ID303121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1016
Ensembl Gene ENSMUSG00000075209
Gene Nameolfactory receptor 1016
SynonymsMOR213-9, GA_x6K02T2Q125-47278889-47277960
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL02676
Quality Score
Status
Chromosome2
Chromosomal Location85797618-85802544 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85799590 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 227 (I227V)
Ref Sequence ENSEMBL: ENSMUSP00000149631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099915] [ENSMUST00000216425] [ENSMUST00000217410]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099915
AA Change: I227V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097499
Gene: ENSMUSG00000075209
AA Change: I227V

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 9.8e-51 PFAM
Pfam:7tm_1 40 289 8.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216425
AA Change: I227V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217410
AA Change: I227V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G A 18: 34,315,634 S1827N probably damaging Het
Atrnl1 T A 19: 57,691,884 C739S probably damaging Het
Cep350 T C 1: 155,862,231 E2622G possibly damaging Het
Chd5 C T 4: 152,356,073 probably benign Het
Chst11 T A 10: 83,191,729 L330Q probably damaging Het
Clcnka A T 4: 141,392,783 V275E probably damaging Het
Clip4 G A 17: 71,828,621 S456N probably damaging Het
Cmya5 A T 13: 93,092,853 I1909N probably damaging Het
Cyp26b1 A G 6: 84,576,644 I176T probably damaging Het
Dst A G 1: 34,307,587 R7717G probably damaging Het
Eml2 C T 7: 19,184,921 R99* probably null Het
Fibin T C 2: 110,362,584 Q71R probably benign Het
Fsip2 T G 2: 82,982,157 I2940S possibly damaging Het
Gabrb3 G T 7: 57,591,364 probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Gm13083 T C 4: 143,616,097 F258S possibly damaging Het
Gm6205 A G 5: 94,683,871 T246A possibly damaging Het
Gm6483 C T 8: 19,693,659 noncoding transcript Het
Hdgfl1 G A 13: 26,769,365 R242C possibly damaging Het
Hmcn1 T C 1: 150,619,009 T4110A probably benign Het
Lama2 T G 10: 27,118,493 M1807L probably benign Het
Larp4 T C 15: 99,990,421 V113A possibly damaging Het
Mkx T C 18: 7,000,640 T101A probably benign Het
Nfe2l1 A G 11: 96,827,665 F15L probably damaging Het
Nif3l1 G A 1: 58,455,736 probably null Het
Nop14 A G 5: 34,639,221 V764A probably damaging Het
Nosip C A 7: 45,077,328 A259E probably damaging Het
Ntn5 T C 7: 45,691,876 probably benign Het
Phospho1 G A 11: 95,830,888 G128D probably damaging Het
Ppp4r3a G A 12: 101,042,511 T703M probably benign Het
Prdm8 G A 5: 98,186,559 E662K probably damaging Het
Ralgapa1 A G 12: 55,676,417 S1775P probably damaging Het
Rapgef6 T C 11: 54,649,346 probably benign Het
Rasef T C 4: 73,759,729 T87A possibly damaging Het
Scrn3 A G 2: 73,329,871 Q286R probably benign Het
Sema3d A T 5: 12,570,978 Q517L probably benign Het
Slc9a3r2 A T 17: 24,641,956 V204E probably damaging Het
Taf6l T C 19: 8,775,049 Y425C probably damaging Het
Tbk1 T C 10: 121,568,080 N254S possibly damaging Het
Tcf3 C T 10: 80,421,091 G64R probably damaging Het
Tmco4 T C 4: 139,023,069 probably null Het
Trappc11 A G 8: 47,493,413 probably benign Het
Vmn1r19 A T 6: 57,405,040 I193F possibly damaging Het
Vmn2r14 G A 5: 109,220,016 T370I probably benign Het
Vmn2r65 T A 7: 84,940,173 H845L possibly damaging Het
Vmn2r98 A T 17: 19,065,259 T114S probably benign Het
Zfp280d A T 9: 72,335,074 R661S probably damaging Het
Zranb1 T C 7: 132,966,681 I356T probably benign Het
Other mutations in Olfr1016
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01907:Olfr1016 APN 2 85799602 missense probably benign 0.01
R0279:Olfr1016 UTSW 2 85799535 missense possibly damaging 0.80
R2982:Olfr1016 UTSW 2 85799350 missense probably benign 0.12
R3708:Olfr1016 UTSW 2 85799998 missense probably benign 0.17
R4014:Olfr1016 UTSW 2 85799476 missense probably damaging 0.99
R4193:Olfr1016 UTSW 2 85800018 missense probably benign 0.39
R4593:Olfr1016 UTSW 2 85799664 missense probably damaging 1.00
R4772:Olfr1016 UTSW 2 85799994 missense probably damaging 1.00
R4816:Olfr1016 UTSW 2 85800047 missense probably benign
R4864:Olfr1016 UTSW 2 85799689 missense probably damaging 1.00
R5382:Olfr1016 UTSW 2 85800148 missense probably damaging 1.00
R5886:Olfr1016 UTSW 2 85799803 missense probably damaging 0.96
R6004:Olfr1016 UTSW 2 85799382 missense probably damaging 1.00
Posted On2015-04-16