Incidental Mutation 'IGL03298:Olfr847'
ID416149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr847
Ensembl Gene ENSMUSG00000059821
Gene Nameolfactory receptor 847
SynonymsMOR149-2, GA_x6K02T2PVTD-13113073-13112135
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #IGL03298
Quality Score
Status
Chromosome9
Chromosomal Location19373668-19378669 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 19375062 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 273 (V273E)
Ref Sequence ENSEMBL: ENSMUSP00000151112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079620] [ENSMUST00000216839]
Predicted Effect probably damaging
Transcript: ENSMUST00000079620
AA Change: V273E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078568
Gene: ENSMUSG00000059821
AA Change: V273E

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.9e-56 PFAM
Pfam:7tm_1 41 290 2.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212306
AA Change: V273E
Predicted Effect probably damaging
Transcript: ENSMUST00000216839
AA Change: V273E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,543,960 T1344A probably benign Het
Abcc4 C A 14: 118,611,468 D491Y probably damaging Het
Casp2 C T 6: 42,268,990 probably benign Het
Ccnb2 T C 9: 70,418,874 T63A probably benign Het
Cgrrf1 A G 14: 46,846,321 I187V probably benign Het
Clstn2 C T 9: 97,456,572 V845M probably damaging Het
Dmxl1 T C 18: 49,864,818 M691T probably benign Het
Dnhd1 T G 7: 105,714,475 I4081M probably damaging Het
H2-T3 T C 17: 36,189,428 Y125C probably damaging Het
Kif1a T A 1: 93,066,181 D349V probably damaging Het
L3mbtl3 T C 10: 26,282,798 T651A unknown Het
Megf10 C T 18: 57,283,838 Q760* probably null Het
Mroh7 T A 4: 106,714,091 K22* probably null Het
Olfr1276 A T 2: 111,257,534 M140L probably benign Het
Ppp6r3 A T 19: 3,521,829 Y107N probably damaging Het
Reln T A 5: 21,910,836 Q3058L probably damaging Het
Ss18 T C 18: 14,679,427 M36V possibly damaging Het
Tlr7 C A X: 167,306,707 K594N probably benign Het
Trim10 A G 17: 36,877,025 S378G possibly damaging Het
Zfp644 A G 5: 106,635,101 S1105P possibly damaging Het
Other mutations in Olfr847
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Olfr847 APN 9 19375239 missense probably damaging 1.00
IGL01293:Olfr847 APN 9 19375336 missense probably benign 0.23
IGL01879:Olfr847 APN 9 19375407 nonsense probably null
R1350:Olfr847 UTSW 9 19375414 missense possibly damaging 0.94
R1400:Olfr847 UTSW 9 19375062 missense probably damaging 0.98
R2894:Olfr847 UTSW 9 19375292 nonsense probably null
R4468:Olfr847 UTSW 9 19375648 missense probably benign 0.00
R4694:Olfr847 UTSW 9 19375398 missense probably damaging 1.00
R4791:Olfr847 UTSW 9 19375809 missense probably benign 0.28
R4794:Olfr847 UTSW 9 19375545 missense probably benign 0.00
R5517:Olfr847 UTSW 9 19375767 missense probably damaging 1.00
R5599:Olfr847 UTSW 9 19375629 missense possibly damaging 0.77
R5777:Olfr847 UTSW 9 19375718 missense probably benign 0.29
R6505:Olfr847 UTSW 9 19374941 makesense probably null
R6509:Olfr847 UTSW 9 19375143 missense probably benign
R7246:Olfr847 UTSW 9 19375465 nonsense probably null
R7659:Olfr847 UTSW 9 19375558 missense probably benign 0.03
R7789:Olfr847 UTSW 9 19375065 missense probably benign 0.33
R7886:Olfr847 UTSW 9 19375906 splice site probably null
Z1088:Olfr847 UTSW 9 19375684 missense probably damaging 1.00
Posted On2016-08-02