Incidental Mutation 'IGL02730:Olfr1040'
ID305402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1040
Ensembl Gene ENSMUSG00000075203
Gene Nameolfactory receptor 1040
SynonymsMOR185-12, GA_x6K02T2Q125-47615732-47614791
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL02730
Quality Score
Status
Chromosome2
Chromosomal Location86145791-86146732 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 86146099 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 212 (V212M)
Ref Sequence ENSEMBL: ENSMUSP00000097493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099909]
Predicted Effect probably benign
Transcript: ENSMUST00000099909
AA Change: V212M

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097493
Gene: ENSMUSG00000075203
AA Change: V212M

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 8.2e-48 PFAM
Pfam:7tm_1 41 290 5.1e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215884
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,166,149 probably benign Het
Ankib1 A T 5: 3,702,995 V651E probably damaging Het
BC051665 G A 13: 60,785,012 probably benign Het
Ces1d C T 8: 93,186,016 G265S probably benign Het
Dsg1c A C 18: 20,274,830 D411A probably damaging Het
Exosc5 T C 7: 25,663,197 I70T possibly damaging Het
Fgf20 T A 8: 40,279,787 L203F probably damaging Het
Gm14025 T C 2: 129,038,726 T427A possibly damaging Het
Gpsm1 T A 2: 26,325,378 V316E probably benign Het
Gtpbp1 T A 15: 79,719,171 D620E probably benign Het
Hs6st1 A G 1: 36,103,628 T215A probably damaging Het
Irgm2 T A 11: 58,219,990 M169K probably benign Het
Kcns3 A G 12: 11,092,075 S208P probably benign Het
Klra6 T C 6: 130,022,697 T103A probably benign Het
Lrba T A 3: 86,328,199 M870K probably damaging Het
Mapk1ip1l C T 14: 47,310,920 T175I possibly damaging Het
Meig1 A G 2: 3,411,910 Y25H probably damaging Het
Msh2 T C 17: 87,707,215 F474L probably damaging Het
Nlrp4b T C 7: 10,714,758 F296S probably damaging Het
Olfr109 T A 17: 37,466,859 Y218N probably damaging Het
Olfr1138 T A 2: 87,737,641 I228F probably damaging Het
Olfr1336 T C 7: 6,461,124 I205T possibly damaging Het
Olfr149 C T 9: 39,702,238 C177Y probably damaging Het
Olfr164 T A 16: 19,286,682 L20F probably benign Het
Olfr281 A G 15: 98,456,436 N42S probably damaging Het
Olfr293 T C 7: 86,664,067 L135P probably damaging Het
Pds5b A G 5: 150,780,752 probably benign Het
Plekhg1 A G 10: 3,873,242 D70G possibly damaging Het
Rubcnl C T 14: 75,050,148 T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 H317Y probably benign Het
Sec22a T C 16: 35,314,100 D282G probably damaging Het
Serpina3a T C 12: 104,119,663 F126L probably damaging Het
Serpinc1 A G 1: 161,000,028 D399G probably damaging Het
Sorcs2 A G 5: 36,062,552 Y383H probably benign Het
Speer3 T A 5: 13,793,271 M64K probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stx1b C A 7: 127,815,377 R25L probably benign Het
Syt5 A G 7: 4,542,357 V181A probably damaging Het
Tspoap1 G T 11: 87,781,709 V1788F probably damaging Het
Vmn1r233 A G 17: 20,993,795 S298P possibly damaging Het
Xntrpc T C 7: 102,082,112 S353P probably damaging Het
Other mutations in Olfr1040
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Olfr1040 APN 2 86146611 missense probably benign 0.22
IGL01106:Olfr1040 APN 2 86146216 missense probably benign 0.09
IGL02193:Olfr1040 APN 2 86146715 missense probably benign 0.00
IGL03032:Olfr1040 APN 2 86146699 missense probably damaging 1.00
IGL03165:Olfr1040 APN 2 86146068 missense possibly damaging 0.91
R0388:Olfr1040 UTSW 2 86146630 missense probably damaging 1.00
R2971:Olfr1040 UTSW 2 86146564 missense probably damaging 0.96
R4168:Olfr1040 UTSW 2 86146179 missense probably benign 0.03
R4532:Olfr1040 UTSW 2 86145930 missense possibly damaging 0.77
R5024:Olfr1040 UTSW 2 86146533 missense probably damaging 1.00
R5175:Olfr1040 UTSW 2 86145957 missense probably damaging 1.00
R5574:Olfr1040 UTSW 2 86146191 missense probably damaging 1.00
R6033:Olfr1040 UTSW 2 86146269 missense probably damaging 0.97
R6033:Olfr1040 UTSW 2 86146269 missense probably damaging 0.97
R6137:Olfr1040 UTSW 2 86145969 missense probably benign
R6945:Olfr1040 UTSW 2 86146084 missense probably damaging 1.00
R6980:Olfr1040 UTSW 2 86146337 nonsense probably null
R7065:Olfr1040 UTSW 2 86146001 missense probably damaging 1.00
Posted On2015-04-16