Incidental Mutation 'IGL01096:Olfr1180'
ID50495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1180
Ensembl Gene ENSMUSG00000081836
Gene Nameolfactory receptor 1180
SynonymsMOR225-1, GA_x6K02T2Q125-49900552-49899623
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01096
Quality Score
Status
Chromosome2
Chromosomal Location88410649-88419151 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88411791 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 289 (M289T)
Ref Sequence ENSEMBL: ENSMUSP00000150965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099824] [ENSMUST00000216121] [ENSMUST00000217320]
Predicted Effect probably damaging
Transcript: ENSMUST00000099824
AA Change: M289T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097412
Gene: ENSMUSG00000081836
AA Change: M289T

DomainStartEndE-ValueType
Pfam:7tm_4 26 300 2.8e-47 PFAM
Pfam:7tm_1 36 282 2.6e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216121
AA Change: M289T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217320
AA Change: M289T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A T 8: 95,039,593 M351L possibly damaging Het
Alk T C 17: 71,921,896 K725E possibly damaging Het
Dspp T A 5: 104,175,367 H125Q possibly damaging Het
Elmo2 A T 2: 165,296,987 probably benign Het
Erg A G 16: 95,390,053 probably benign Het
Fam20c A G 5: 138,809,155 E513G possibly damaging Het
Gatsl3 A C 11: 4,221,850 E309A probably damaging Het
Gm9839 G T 1: 32,520,836 T55N possibly damaging Het
Gpd2 A T 2: 57,338,867 M228L probably damaging Het
Hp A T 8: 109,575,401 M305K probably benign Het
Ifng T A 10: 118,445,269 probably benign Het
Igkv9-123 T C 6: 67,954,465 D39G possibly damaging Het
Melk T A 4: 44,347,262 F431I probably benign Het
Olfr1335 A G 4: 118,809,456 V136A probably damaging Het
Olfr536 A T 7: 140,504,184 S92T probably damaging Het
Olfr639 A C 7: 104,012,114 L196W probably damaging Het
Olfr944 G A 9: 39,218,116 G253D probably damaging Het
Pappa T C 4: 65,189,316 Y655H probably damaging Het
Prss58 A T 6: 40,895,465 I208N probably damaging Het
Ryr2 T A 13: 11,703,544 I2720F probably damaging Het
Slc13a1 G T 6: 24,104,077 T322K probably damaging Het
Spag17 T C 3: 100,063,375 F1292L probably benign Het
Tbx5 A G 5: 119,883,026 T366A probably benign Het
Tmeff2 G A 1: 50,930,546 probably benign Het
Tmem101 C A 11: 102,154,552 probably null Het
Tpp2 C A 1: 43,960,888 P389T probably damaging Het
Tyk2 A G 9: 21,108,863 Y1000H probably damaging Het
Ush2a C A 1: 188,678,377 N2407K probably damaging Het
Vmn1r94 C T 7: 20,167,636 V248I probably damaging Het
Vmn2r12 T A 5: 109,086,259 I696F probably damaging Het
Vmn2r83 A G 10: 79,477,828 E90G probably damaging Het
Washc5 T C 15: 59,350,211 probably benign Het
Wee2 A G 6: 40,463,253 E445G probably benign Het
Zfp518b T C 5: 38,672,788 T625A probably benign Het
Other mutations in Olfr1180
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4531001:Olfr1180 UTSW 2 88411760 missense probably benign 0.03
R0402:Olfr1180 UTSW 2 88412034 missense probably damaging 0.99
R1196:Olfr1180 UTSW 2 88412546 missense probably damaging 1.00
R1557:Olfr1180 UTSW 2 88412211 missense possibly damaging 0.65
R1695:Olfr1180 UTSW 2 88412100 missense probably damaging 0.98
R1840:Olfr1180 UTSW 2 88412067 missense probably benign 0.08
R2014:Olfr1180 UTSW 2 88412044 missense probably benign 0.03
R2042:Olfr1180 UTSW 2 88412202 missense possibly damaging 0.81
R5241:Olfr1180 UTSW 2 88412098 missense possibly damaging 0.60
R6043:Olfr1180 UTSW 2 88412245 missense probably benign 0.01
R7023:Olfr1180 UTSW 2 88412415 missense probably damaging 1.00
R7153:Olfr1180 UTSW 2 88412118 missense probably damaging 1.00
R7269:Olfr1180 UTSW 2 88412495 missense possibly damaging 0.94
Z1176:Olfr1180 UTSW 2 88411986 missense probably damaging 0.99
Posted On2013-06-21