Incidental Mutation 'IGL01022:Olfr8'
ID53843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr8
Ensembl Gene ENSMUSG00000094080
Gene Nameolfactory receptor 8
SynonymsMOR139-5P, GA_x6K02T2QGN0-2857086-2856154
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.240) question?
Stock #IGL01022
Quality Score
Status
Chromosome10
Chromosomal Location78950636-78958378 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 78955354 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 50 (I50F)
Ref Sequence ENSEMBL: ENSMUSP00000148856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081571] [ENSMUST00000203851] [ENSMUST00000214952]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081571
AA Change: I50F

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: I50F

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203851
AA Change: I50F

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: I50F

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-47 PFAM
Pfam:7tm_1 42 291 3e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214952
AA Change: I50F

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216819
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,202,942 S927P probably benign Het
Arfgef1 G T 1: 10,174,076 F987L probably damaging Het
Asph A T 4: 9,601,344 N191K possibly damaging Het
Bmpr1b A T 3: 141,871,338 C71S probably damaging Het
Bod1l A T 5: 41,794,309 S2920T probably damaging Het
Camta2 G A 11: 70,671,482 R1030* probably null Het
Chd8 T C 14: 52,236,993 T194A probably benign Het
Col9a3 A T 2: 180,616,434 I549F probably damaging Het
Fstl4 A G 11: 53,186,741 N775S probably benign Het
Gm10800 T A 2: 98,667,231 probably benign Het
Gm5117 T A 8: 31,738,487 noncoding transcript Het
Hap1 A G 11: 100,349,548 L112P probably benign Het
Hcls1 C A 16: 36,951,126 probably benign Het
Kmt2c A G 5: 25,302,701 probably benign Het
Lct T A 1: 128,300,859 I966L probably benign Het
Myo1h A T 5: 114,336,300 I451F possibly damaging Het
Notch4 G A 17: 34,565,697 C128Y probably damaging Het
Oca2 T A 7: 56,324,756 N484K probably damaging Het
Olfr585 T G 7: 103,097,870 L43R probably damaging Het
Rprd2 T A 3: 95,763,754 R1362* probably null Het
Sema3a C T 5: 13,473,466 T134I probably damaging Het
Sfta2 C T 17: 35,650,444 T74I possibly damaging Het
Slfn10-ps C T 11: 83,035,527 noncoding transcript Het
Spag11a A T 8: 19,157,989 Q15H probably damaging Het
Tbc1d22a G A 15: 86,301,555 D282N probably damaging Het
Tmbim6 G A 15: 99,402,122 V40M possibly damaging Het
Tmem259 A G 10: 79,983,974 V22A probably damaging Het
Tnik T C 3: 28,625,228 probably null Het
Unc13c T C 9: 73,517,328 D2002G probably benign Het
Other mutations in Olfr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Olfr8 APN 10 78956144 utr 3 prime probably benign
IGL02505:Olfr8 APN 10 78955933 missense probably benign 0.02
IGL02543:Olfr8 APN 10 78955939 missense probably damaging 1.00
IGL03323:Olfr8 APN 10 78955600 missense probably benign
PIT4466001:Olfr8 UTSW 10 78955842 missense probably benign 0.00
R1496:Olfr8 UTSW 10 78955848 missense probably benign 0.41
R1754:Olfr8 UTSW 10 78955697 missense probably damaging 0.99
R1878:Olfr8 UTSW 10 78955805 missense possibly damaging 0.62
R2760:Olfr8 UTSW 10 78956042 missense probably damaging 0.99
R4202:Olfr8 UTSW 10 78955295 missense probably benign
R4206:Olfr8 UTSW 10 78955283 missense probably benign 0.00
R4517:Olfr8 UTSW 10 78956043 nonsense probably null
R4613:Olfr8 UTSW 10 78956065 missense probably damaging 1.00
R4799:Olfr8 UTSW 10 78956097 missense probably null 0.92
R4979:Olfr8 UTSW 10 78955932 nonsense probably null
R5008:Olfr8 UTSW 10 78956071 missense probably damaging 1.00
R5700:Olfr8 UTSW 10 78955484 missense probably damaging 1.00
R5876:Olfr8 UTSW 10 78955357 missense probably benign 0.15
R6439:Olfr8 UTSW 10 78955984 missense probably damaging 1.00
R6930:Olfr8 UTSW 10 78955781 missense possibly damaging 0.84
R7110:Olfr8 UTSW 10 78955450 missense possibly damaging 0.83
R7405:Olfr8 UTSW 10 78955697 missense probably benign 0.14
R7524:Olfr8 UTSW 10 78955491 nonsense probably null
Z1176:Olfr8 UTSW 10 78955219 missense probably damaging 1.00
Posted On2013-06-28