Incidental Mutation 'IGL03327:Olfr815'
ID416675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr815
Ensembl Gene ENSMUSG00000061961
Gene Nameolfactory receptor 815
SynonymsGA_x6K02T2PULF-11581263-11580331, MOR113-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL03327
Quality Score
Status
Chromosome10
Chromosomal Location129900570-129905867 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 129902582 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 43 (I43L)
Ref Sequence ENSEMBL: ENSMUSP00000151146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071557] [ENSMUST00000205013] [ENSMUST00000216182]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071557
AA Change: I49L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071488
Gene: ENSMUSG00000061961
AA Change: I49L

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 4.2e-45 PFAM
Pfam:7tm_1 45 294 1.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205013
AA Change: I43L
SMART Domains Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: I43L

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 1.3e-44 PFAM
Pfam:7tm_1 39 288 4.1e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216182
AA Change: I43L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430105I19Rik T C 2: 118,761,670 N79S probably damaging Het
Adcy8 T C 15: 64,920,267 Y280C probably damaging Het
Anapc1 T C 2: 128,623,934 T1647A probably benign Het
Ano3 T C 2: 110,697,178 I562V possibly damaging Het
Ash1l C T 3: 89,023,083 P1956S probably benign Het
Cd160 C T 3: 96,805,533 probably null Het
Chd3 G T 11: 69,350,186 A1527E probably damaging Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cntnap3 G A 13: 64,887,768 Q44* probably null Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Col6a6 T C 9: 105,767,234 D1285G possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Dcaf1 T C 9: 106,858,624 S924P possibly damaging Het
Eif5b T C 1: 38,041,691 probably benign Het
Fat1 A C 8: 44,950,468 K85N probably damaging Het
Fnip2 T C 3: 79,518,081 E69G probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Galc A G 12: 98,207,476 probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Hmmr A G 11: 40,715,415 C243R probably damaging Het
Il25 T C 14: 54,935,360 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Kifc3 C T 8: 95,108,432 D242N probably damaging Het
Lig1 T G 7: 13,303,855 I677S probably damaging Het
Lrig1 G T 6: 94,606,123 A1004E probably benign Het
Nras A G 3: 103,059,024 T35A probably damaging Het
Nt5c1b C T 12: 10,374,861 Q136* probably null Het
Olfr1046 C T 2: 86,217,274 W145* probably null Het
Olfr1278 A T 2: 111,292,462 N65Y probably damaging Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Plpp2 T C 10: 79,530,984 probably null Het
Ptpre G A 7: 135,672,822 probably null Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Sh3bp4 C A 1: 89,144,163 Y244* probably null Het
Trip11 A T 12: 101,883,418 N1462K possibly damaging Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Virma A G 4: 11,518,984 T694A probably benign Het
Wdr35 T C 12: 8,978,694 probably benign Het
Xdh T C 17: 73,916,792 E535G probably benign Het
Other mutations in Olfr815
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Olfr815 APN 10 129902659 missense possibly damaging 0.94
IGL01901:Olfr815 APN 10 129901853 missense probably benign 0.19
IGL02687:Olfr815 APN 10 129902102 missense probably benign 0.00
IGL02932:Olfr815 APN 10 129902418 nonsense probably null
R0894:Olfr815 UTSW 10 129901882 missense probably damaging 0.97
R1299:Olfr815 UTSW 10 129902077 missense probably benign 0.32
R1544:Olfr815 UTSW 10 129902424 nonsense probably null
R1939:Olfr815 UTSW 10 129902101 missense probably damaging 0.96
R2379:Olfr815 UTSW 10 129901912 missense probably damaging 0.99
R2435:Olfr815 UTSW 10 129902304 missense possibly damaging 0.52
R2566:Olfr815 UTSW 10 129902095 missense probably damaging 1.00
R2892:Olfr815 UTSW 10 129901940 missense possibly damaging 0.60
R2905:Olfr815 UTSW 10 129902400 missense possibly damaging 0.93
R4552:Olfr815 UTSW 10 129902123 missense probably benign 0.00
R6566:Olfr815 UTSW 10 129902078 missense probably benign 0.00
R6988:Olfr815 UTSW 10 129902409 missense probably damaging 0.98
R7671:Olfr815 UTSW 10 129902353 missense probably damaging 1.00
Z1088:Olfr815 UTSW 10 129902683 missense possibly damaging 0.49
Posted On2016-08-02