Incidental Mutation 'IGL03195:Olfr987'
ID412770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr987
Ensembl Gene ENSMUSG00000075223
Gene Nameolfactory receptor 987
SynonymsMOR203-7P, GA_x6K02T2Q125-46808500-46807571
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL03195
Quality Score
Status
Chromosome2
Chromosomal Location85330779-85339315 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85331520 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 126 (I126N)
Ref Sequence ENSEMBL: ENSMUSP00000150619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099929] [ENSMUST00000111598] [ENSMUST00000216347]
Predicted Effect probably damaging
Transcript: ENSMUST00000099929
AA Change: I126N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097513
Gene: ENSMUSG00000075223
AA Change: I126N

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.4e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 254 5.9e-6 PFAM
Pfam:7tm_1 41 290 1.9e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111598
AA Change: I126N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107225
Gene: ENSMUSG00000075223
AA Change: I126N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 254 5.9e-6 PFAM
Pfam:7tm_1 41 290 1.7e-31 PFAM
Pfam:7tm_4 139 283 6.6e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216347
AA Change: I126N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Abcb1b A G 5: 8,853,607 D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,769 probably benign Het
Ankrd42 T A 7: 92,591,858 Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 F592I probably damaging Het
Arhgef28 A G 13: 97,951,563 probably null Het
Boc A G 16: 44,492,821 F560S probably damaging Het
Ccdc81 A T 7: 89,896,708 V96E probably benign Het
Cep162 C T 9: 87,225,786 S517N probably benign Het
Cntnap5a A G 1: 116,157,448 N372S probably benign Het
Dnah7a G A 1: 53,419,607 R3791C probably damaging Het
Fdxr T C 11: 115,276,092 Q57R probably benign Het
G3bp2 A G 5: 92,068,508 probably benign Het
Gm595 T A X: 48,872,948 Q296L possibly damaging Het
Hmcn1 G A 1: 150,802,909 T487I probably benign Het
Kpna7 A T 5: 144,997,037 I282N probably damaging Het
Lif A T 11: 4,269,201 Y160F probably damaging Het
Lrp1b A T 2: 41,471,122 D556E possibly damaging Het
Myom2 G T 8: 15,111,844 E954* probably null Het
Nr6a1 A T 2: 38,742,936 I171N probably damaging Het
Nup210 C A 6: 91,015,850 R1059L probably benign Het
Olfr1109 A T 2: 87,092,569 V276E probably damaging Het
Olfr225 G A 11: 59,613,803 V280M probably damaging Het
Olfr698 A G 7: 106,752,773 I205T probably benign Het
Olfr743 A G 14: 50,533,420 T3A probably benign Het
Ostm1 T C 10: 42,698,217 V302A probably damaging Het
Oxct1 A G 15: 4,101,189 M388V possibly damaging Het
Ppp6r2 G A 15: 89,268,555 V300I possibly damaging Het
Prmt1 T C 7: 44,977,571 Y205C probably damaging Het
Slc45a4 A C 15: 73,584,423 V636G possibly damaging Het
Spata18 T A 5: 73,671,248 L270Q probably damaging Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Thsd7b G A 1: 129,628,909 C334Y probably damaging Het
Tmtc3 C T 10: 100,459,034 V406M probably benign Het
Trpc5 T A X: 144,382,728 M900L probably benign Het
Ttc9c T C 19: 8,815,980 K99E probably benign Het
Vmn1r73 A G 7: 11,757,080 E275G probably damaging Het
Other mutations in Olfr987
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Olfr987 APN 2 85331601 missense probably benign 0.37
IGL02267:Olfr987 APN 2 85331121 missense probably damaging 1.00
IGL03167:Olfr987 APN 2 85331320 missense probably benign 0.01
R0918:Olfr987 UTSW 2 85331932 intron probably benign
R1573:Olfr987 UTSW 2 85331343 missense probably damaging 1.00
R1956:Olfr987 UTSW 2 85331100 missense probably benign 0.00
R2165:Olfr987 UTSW 2 85331102 missense probably benign
R4086:Olfr987 UTSW 2 85331826 missense probably benign 0.35
R5386:Olfr987 UTSW 2 85331635 missense probably benign 0.00
R5652:Olfr987 UTSW 2 85331373 missense probably damaging 1.00
R6753:Olfr987 UTSW 2 85331798 missense probably benign
R6755:Olfr987 UTSW 2 85331798 missense probably benign
R8347:Olfr987 UTSW 2 85331703 missense probably damaging 0.99
Z1176:Olfr987 UTSW 2 85331893 missense probably benign 0.00
Posted On2016-08-02