Incidental Mutation 'IGL01354:Olfr878'
ID75471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr878
Ensembl Gene ENSMUSG00000066747
Gene Nameolfactory receptor 878
SynonymsMOR163-1, GA_x6K02T2PVTD-31600511-31601440
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL01354
Quality Score
Status
Chromosome9
Chromosomal Location37917840-37922474 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 37919544 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 301 (V301I)
Ref Sequence ENSEMBL: ENSMUSP00000083228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086061] [ENSMUST00000212878] [ENSMUST00000214263] [ENSMUST00000216723]
Predicted Effect possibly damaging
Transcript: ENSMUST00000086061
AA Change: V301I

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000083228
Gene: ENSMUSG00000066747
AA Change: V301I

DomainStartEndE-ValueType
Pfam:7tm_4 36 312 1.4e-46 PFAM
Pfam:7tm_1 46 294 5.6e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212878
AA Change: V296I

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214263
AA Change: V296I

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214813
Predicted Effect possibly damaging
Transcript: ENSMUST00000216723
AA Change: V296I

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,527,376 L41P probably damaging Het
Baz2b T C 2: 59,968,889 Q297R probably benign Het
Chl1 A T 6: 103,665,853 Q184L probably benign Het
Cyp2a5 A G 7: 26,837,103 D169G possibly damaging Het
Cyp2d34 G A 15: 82,617,622 T229M probably benign Het
Fgd5 C T 6: 92,061,843 R995* probably null Het
Gaa T C 11: 119,270,568 S146P probably benign Het
Gm11437 T A 11: 84,167,318 probably benign Het
Gm6614 T C 6: 141,990,408 N317S probably benign Het
Inpp5a T C 7: 139,538,234 F235L probably damaging Het
Lpp T A 16: 24,762,066 Y177* probably null Het
Malt1 A G 18: 65,475,191 Y654C probably damaging Het
Olfr1302 A C 2: 111,780,901 N194H possibly damaging Het
Olfr1380 T C 11: 49,564,197 I92T probably damaging Het
Otog A G 7: 46,289,726 N2060S probably damaging Het
Phc1 G A 6: 122,334,083 T98I probably damaging Het
Pik3cb A G 9: 99,064,168 I535T possibly damaging Het
Plxna2 A G 1: 194,762,435 I712V probably benign Het
Psmc2 A G 5: 21,795,836 E103G possibly damaging Het
Ptprb A G 10: 116,343,891 I1405V probably benign Het
Ralgapa1 T C 12: 55,777,316 N260D possibly damaging Het
Reln G A 5: 21,919,175 Q2778* probably null Het
Sptlc1 T A 13: 53,333,951 Q452L probably benign Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Ubap2 T C 4: 41,207,005 E191G probably damaging Het
Vstm4 A T 14: 32,919,245 T262S probably benign Het
Zrsr1 T A 11: 22,974,190 H321Q probably damaging Het
Other mutations in Olfr878
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Olfr878 APN 9 37919050 missense probably damaging 1.00
R0399:Olfr878 UTSW 9 37919553 missense possibly damaging 0.85
R1537:Olfr878 UTSW 9 37919274 missense probably benign 0.24
R3737:Olfr878 UTSW 9 37918641 splice site probably benign
R4035:Olfr878 UTSW 9 37918641 splice site probably benign
R4675:Olfr878 UTSW 9 37919586 makesense probably null
R4700:Olfr878 UTSW 9 37918921 missense possibly damaging 0.77
R5719:Olfr878 UTSW 9 37919351 missense probably damaging 1.00
R5824:Olfr878 UTSW 9 37919565 missense probably benign 0.00
R5940:Olfr878 UTSW 9 37919437 missense probably damaging 1.00
R6116:Olfr878 UTSW 9 37918659 start codon destroyed probably null 0.94
R6705:Olfr878 UTSW 9 37918784 missense probably damaging 1.00
R7075:Olfr878 UTSW 9 37919074 missense probably benign 0.09
R7470:Olfr878 UTSW 9 37919296 missense probably damaging 1.00
R8057:Olfr878 UTSW 9 37919164 missense probably benign 0.00
Posted On2013-10-07