Incidental Mutation 'IGL01150:Olfr847'
ID 52016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr847
Ensembl Gene ENSMUSG00000059821
Gene Name olfactory receptor 847
Synonyms MOR149-2, GA_x6K02T2PVTD-13113073-13112135
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL01150
Quality Score
Status
Chromosome 9
Chromosomal Location 19373668-19378669 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19375239 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 214 (I214N)
Ref Sequence ENSEMBL: ENSMUSP00000151112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079620] [ENSMUST00000216839]
AlphaFold Q8VFF4
Predicted Effect probably damaging
Transcript: ENSMUST00000079620
AA Change: I214N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078568
Gene: ENSMUSG00000059821
AA Change: I214N

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: I214N
Predicted Effect probably damaging
Transcript: ENSMUST00000216839
AA Change: I214N

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,702,550 D507G possibly damaging Het
Actl6a A G 3: 32,712,164 I60V probably benign Het
Adra2c T C 5: 35,281,141 F419S probably damaging Het
Afap1l2 T C 19: 56,930,186 Y105C probably damaging Het
Arid4b C T 13: 14,195,374 Q1152* probably null Het
Arsj A G 3: 126,438,784 D393G probably benign Het
Avp T C 2: 130,580,673 probably benign Het
Cacna2d3 C T 14: 29,183,641 V390I possibly damaging Het
Ccdc25 T A 14: 65,860,202 M195K possibly damaging Het
Cdhr2 T A 13: 54,731,118 S979T probably benign Het
Cog2 T C 8: 124,542,891 F390S possibly damaging Het
Dennd5b A G 6: 149,068,085 V290A probably benign Het
Ebf1 T C 11: 44,869,100 L188P probably damaging Het
Fam129a T C 1: 151,717,721 V719A probably benign Het
Galt T C 4: 41,757,786 probably benign Het
Gm12830 C T 4: 114,845,064 T141I unknown Het
Herc2 T A 7: 56,181,133 W2965R probably damaging Het
Hrg A G 16: 22,959,159 probably null Het
Ighv8-5 T C 12: 115,067,574 Y115C probably damaging Het
Igkv12-89 A G 6: 68,835,143 V14A probably benign Het
Nav2 A C 7: 49,452,521 T295P probably benign Het
Nrg1 G A 8: 31,917,875 T110I probably damaging Het
Olfr1183 T C 2: 88,462,075 V264A possibly damaging Het
Olfr555 A C 7: 102,659,492 K224Q probably benign Het
Pclo T C 5: 14,676,912 probably benign Het
Polg2 T C 11: 106,777,432 probably null Het
Ptges G T 2: 30,892,708 R111S probably damaging Het
Rbbp4 T C 4: 129,322,875 probably benign Het
Rundc3a T C 11: 102,393,776 V34A probably benign Het
Scn3a C A 2: 65,497,365 probably null Het
Sec14l3 T C 11: 4,076,238 probably benign Het
Strip1 C T 3: 107,626,731 probably null Het
Svep1 T A 4: 58,070,302 I2495F probably benign Het
Syne1 A G 10: 5,443,154 S71P probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem161b C T 13: 84,292,407 R133* probably null Het
Tnnc2 A T 2: 164,777,833 I71N probably damaging Het
Vps13d T C 4: 145,149,275 N1554S probably benign Het
Wfdc3 A T 2: 164,732,203 probably benign Het
Zfp648 A T 1: 154,205,364 H423L probably damaging Het
Other mutations in Olfr847
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Olfr847 APN 9 19375336 missense probably benign 0.23
IGL01879:Olfr847 APN 9 19375407 nonsense probably null
IGL03298:Olfr847 APN 9 19375062 missense probably damaging 1.00
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
R8948:Olfr847 UTSW 9 19374966 missense probably benign 0.03
R9326:Olfr847 UTSW 9 19375050 missense probably damaging 1.00
Z1088:Olfr847 UTSW 9 19375684 missense probably damaging 1.00
Posted On 2013-06-21