Incidental Mutation 'IGL00940:Olfr1085'
ID26924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1085
Ensembl Gene ENSMUSG00000075176
Gene Nameolfactory receptor 1085
SynonymsGA_x6K02T2Q125-48147264-48146323, MOR191-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00940
Quality Score
Status
Chromosome2
Chromosomal Location86653665-86662019 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 86657726 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 244 (H244P)
Ref Sequence ENSEMBL: ENSMUSP00000150955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099879] [ENSMUST00000213279] [ENSMUST00000214566]
Predicted Effect probably damaging
Transcript: ENSMUST00000099879
AA Change: H244P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097464
Gene: ENSMUSG00000075176
AA Change: H244P

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 4.6e-49 PFAM
Pfam:7tm_1 41 290 1.1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213279
AA Change: H244P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214566
AA Change: H244P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1 A G 17: 28,057,354 N1024D probably damaging Het
Cts7 A G 13: 61,356,909 probably null Het
Dock3 T A 9: 106,911,377 probably benign Het
Fbxo6 A G 4: 148,146,110 F232L probably benign Het
Hsd3b6 A T 3: 98,806,624 F120I probably damaging Het
Il4ra G A 7: 125,569,175 probably null Het
Irs4 A T X: 141,722,144 F1019I unknown Het
Klc1 A G 12: 111,787,498 T464A probably damaging Het
Mical3 T C 6: 121,022,410 T660A possibly damaging Het
Ndufs7 T A 10: 80,255,121 V158E probably damaging Het
Nhs T A X: 161,837,230 N1510I probably damaging Het
Olfr78 A G 7: 102,742,262 V247A probably damaging Het
Pole2 G A 12: 69,215,360 T148I probably damaging Het
Pramel1 T A 4: 143,397,556 L267H probably damaging Het
Rag1 T C 2: 101,642,388 E803G probably damaging Het
Rassf1 G T 9: 107,558,311 probably benign Het
Rnf220 T C 4: 117,307,675 K210R probably benign Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Snd1 T C 6: 28,745,175 probably benign Het
Ssb T A 2: 69,870,835 probably null Het
Tex37 C A 6: 70,913,388 R140L probably benign Het
Tlr5 T C 1: 182,974,196 V355A possibly damaging Het
Ush2a A T 1: 188,357,961 R414* probably null Het
Zfyve26 A G 12: 79,280,900 S559P probably benign Het
Other mutations in Olfr1085
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Olfr1085 APN 2 86657711 missense possibly damaging 0.92
IGL01329:Olfr1085 APN 2 86658207 missense probably benign 0.31
IGL01398:Olfr1085 APN 2 86657688 missense probably damaging 1.00
IGL02248:Olfr1085 APN 2 86657717 missense probably damaging 1.00
IGL02699:Olfr1085 APN 2 86658347 missense probably benign 0.34
IGL02818:Olfr1085 APN 2 86657784 missense probably damaging 1.00
IGL03095:Olfr1085 APN 2 86658431 missense possibly damaging 0.50
IGL03218:Olfr1085 APN 2 86658359 missense probably benign 0.32
R0121:Olfr1085 UTSW 2 86657819 missense probably benign 0.42
R0546:Olfr1085 UTSW 2 86657891 missense possibly damaging 0.91
R0583:Olfr1085 UTSW 2 86658360 missense probably benign 0.20
R0980:Olfr1085 UTSW 2 86657865 missense probably benign 0.39
R2067:Olfr1085 UTSW 2 86658437 missense probably damaging 1.00
R2111:Olfr1085 UTSW 2 86658437 missense probably damaging 1.00
R3760:Olfr1085 UTSW 2 86657888 missense possibly damaging 0.91
R4530:Olfr1085 UTSW 2 86657561 missense probably benign 0.00
R4809:Olfr1085 UTSW 2 86657685 missense possibly damaging 0.95
R5940:Olfr1085 UTSW 2 86658050 missense probably damaging 0.98
R6027:Olfr1085 UTSW 2 86657804 missense probably damaging 1.00
R6417:Olfr1085 UTSW 2 86658166 nonsense probably null
R6420:Olfr1085 UTSW 2 86658166 nonsense probably null
R6619:Olfr1085 UTSW 2 86658062 missense probably damaging 1.00
R6762:Olfr1085 UTSW 2 86657844 missense probably benign 0.22
R6946:Olfr1085 UTSW 2 86657588 missense probably damaging 1.00
R7673:Olfr1085 UTSW 2 86657726 missense probably damaging 1.00
R7718:Olfr1085 UTSW 2 86658029 missense probably benign 0.26
Posted On2013-04-17