Incidental Mutation 'IGL02890:Olfr180'
ID363132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr180
Ensembl Gene ENSMUSG00000090629
Gene Nameolfactory receptor 180
SynonymsMOR184-11P, GA_x54KRFPKG5P-55134972-55134019, Olfr1563-ps1, MOR184-9, MOR184-11P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL02890
Quality Score
Status
Chromosome16
Chromosomal Location58914285-58929392 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58916374 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 89 (D89G)
Ref Sequence ENSEMBL: ENSMUSP00000128358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171656] [ENSMUST00000205883] [ENSMUST00000206168]
Predicted Effect probably benign
Transcript: ENSMUST00000171656
AA Change: D89G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128358
Gene: ENSMUSG00000090629
AA Change: D89G

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.4e-51 PFAM
Pfam:7tm_1 41 313 1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205883
AA Change: D89G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000206168
AA Change: D89G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900055J20Rik A G 18: 40,257,027 probably benign Het
Adam39 A T 8: 40,825,153 I194L probably benign Het
Akirin1 A G 4: 123,738,062 V171A probably damaging Het
Camk2b A T 11: 6,001,340 D91E possibly damaging Het
Ccser1 A G 6: 62,379,831 D751G probably damaging Het
D6Wsu163e G A 6: 126,974,487 G500D probably damaging Het
Dchs1 G T 7: 105,756,491 D2395E probably damaging Het
Fam189b A T 3: 89,186,782 T223S possibly damaging Het
Fat3 T C 9: 15,915,340 T4439A probably benign Het
Fn1 A G 1: 71,598,372 probably null Het
Galnt14 A C 17: 73,509,524 probably null Het
Gemin4 A C 11: 76,211,264 S890R probably damaging Het
Glrp1 T A 1: 88,509,788 probably null Het
Grik1 A G 16: 87,896,802 probably benign Het
Hist1h2bm G T 13: 21,722,186 R30L probably benign Het
Hspa12a C T 19: 58,820,999 probably null Het
Hykk C T 9: 54,920,711 P78L probably benign Het
Kctd13 G A 7: 126,930,731 G115R probably benign Het
Ltn1 C T 16: 87,409,297 probably null Het
Mat2a A G 6: 72,436,246 L167P probably damaging Het
Myo6 A G 9: 80,266,174 E532G probably damaging Het
Nrbp2 G T 15: 76,089,457 L272M probably damaging Het
Nrd1 A G 4: 109,053,919 D790G possibly damaging Het
Olfr1507 T A 14: 52,490,911 T18S probably benign Het
Olfr943 T C 9: 39,184,268 L27P probably damaging Het
Pcdh10 A T 3: 45,392,617 H949L probably damaging Het
Pikfyve A G 1: 65,230,797 Y547C probably benign Het
Pkhd1 A T 1: 20,361,011 V2392D probably damaging Het
Ppp1r3g A T 13: 35,969,331 T245S probably damaging Het
Prkaa1 A G 15: 5,177,086 N439S possibly damaging Het
Radil A G 5: 142,543,708 Y78H probably damaging Het
Ric8b A T 10: 85,001,867 M513L possibly damaging Het
Slc4a10 T C 2: 62,286,916 S740P probably damaging Het
Slc5a12 T C 2: 110,624,133 probably benign Het
Smg1 G A 7: 118,185,501 probably benign Het
Spef2 C T 15: 9,748,767 M1I probably null Het
Tmc5 A T 7: 118,645,430 probably benign Het
Tpp2 C T 1: 43,999,690 A1132V probably damaging Het
Ttll4 A T 1: 74,687,339 K699* probably null Het
Other mutations in Olfr180
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Olfr180 APN 16 58915850 missense probably benign 0.01
IGL01759:Olfr180 APN 16 58915928 missense probably damaging 0.99
IGL02499:Olfr180 APN 16 58916251 missense probably damaging 1.00
R1123:Olfr180 UTSW 16 58916334 nonsense probably null
R1292:Olfr180 UTSW 16 58915771 missense probably damaging 1.00
R2983:Olfr180 UTSW 16 58916567 missense probably benign 0.00
R3894:Olfr180 UTSW 16 58916339 missense probably benign 0.28
R4176:Olfr180 UTSW 16 58916584 missense probably benign 0.01
R4666:Olfr180 UTSW 16 58916584 missense probably benign 0.01
R5058:Olfr180 UTSW 16 58916072 missense probably benign 0.00
R5375:Olfr180 UTSW 16 58915885 missense possibly damaging 0.83
R5998:Olfr180 UTSW 16 58916630 missense probably benign
R6225:Olfr180 UTSW 16 58916182 missense probably benign 0.32
R6315:Olfr180 UTSW 16 58916246 missense probably damaging 1.00
R6380:Olfr180 UTSW 16 58916264 missense probably damaging 1.00
R6866:Olfr180 UTSW 16 58915988 missense probably damaging 1.00
R7513:Olfr180 UTSW 16 58915932 missense probably damaging 1.00
R7582:Olfr180 UTSW 16 58916047 missense possibly damaging 0.48
Posted On2015-12-18