Incidental Mutation 'IGL01981:Olfr1039'
ID183462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1039
Ensembl Gene ENSMUSG00000075204
Gene Nameolfactory receptor 1039
SynonymsMOR185-5, MOR185-5, GA_x6K02T2Q125-47600809-47599850, MOR185-9P, Olfr1517, MOR185-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL01981
Quality Score
Status
Chromosome2
Chromosomal Location86127995-86135928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86130830 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 278 (Y278N)
Ref Sequence ENSEMBL: ENSMUSP00000149830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099910] [ENSMUST00000214364] [ENSMUST00000216566] [ENSMUST00000216665]
Predicted Effect probably benign
Transcript: ENSMUST00000099910
AA Change: Y278N

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097494
Gene: ENSMUSG00000075204
AA Change: Y278N

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1e-50 PFAM
Pfam:7tm_1 41 290 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214364
AA Change: Y278N

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216566
AA Change: Y278N

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216665
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik C T 17: 33,067,654 G58E probably damaging Het
Akt2 A C 7: 27,638,074 D417A probably benign Het
Ap1b1 T A 11: 5,019,336 S231T possibly damaging Het
Arhgap31 G A 16: 38,601,573 T1377I probably damaging Het
Cdkl3 A G 11: 52,005,069 T48A probably benign Het
Chd3 T C 11: 69,360,675 Y510C probably damaging Het
Chml A G 1: 175,688,185 S57P probably damaging Het
Cpxm1 G T 2: 130,394,140 C367* probably null Het
D930020B18Rik A G 10: 121,692,414 T428A probably damaging Het
Dnaja3 A T 16: 4,701,169 I325F probably damaging Het
Erbb3 A G 10: 128,571,650 V943A probably benign Het
Fam110b A G 4: 5,799,481 I300V probably benign Het
Fam193a A G 5: 34,431,193 E76G probably damaging Het
Fbxl3 G A 14: 103,095,464 T26M possibly damaging Het
Furin A G 7: 80,392,899 L380P probably damaging Het
Fxr2 A C 11: 69,650,502 I354L possibly damaging Het
Garnl3 G T 2: 32,997,729 N756K probably damaging Het
Gimap1 A G 6: 48,743,324 Y290C probably damaging Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gm5592 G A 7: 41,286,371 W99* probably null Het
Hexdc G T 11: 121,216,993 S183I possibly damaging Het
Hmg20a C T 9: 56,477,230 P95S probably damaging Het
Jhy A T 9: 40,895,546 I769N probably damaging Het
Lrrd1 G T 5: 3,851,267 C524F probably damaging Het
Musk C A 4: 58,296,629 S76R probably damaging Het
Myom3 C T 4: 135,785,849 R613* probably null Het
Naa16 T A 14: 79,381,516 E172D probably benign Het
Obox6 A T 7: 15,834,921 M10K possibly damaging Het
Pam C T 1: 97,834,441 V700M probably damaging Het
Pkd1l2 C A 8: 117,016,916 R1978L probably benign Het
Pkhd1 T A 1: 20,523,567 T1441S possibly damaging Het
Plg A G 17: 12,403,047 probably benign Het
Pot1a A G 6: 25,750,100 L521P probably damaging Het
Pramef17 G A 4: 143,994,354 P6S probably damaging Het
Ptprj A T 2: 90,439,912 V1280E probably damaging Het
Rcbtb2 T C 14: 73,164,782 S136P possibly damaging Het
Rtl1 C T 12: 109,591,935 E1157K possibly damaging Het
Sell G A 1: 164,065,626 R137Q probably benign Het
Shisa9 A T 16: 12,244,658 M248L probably benign Het
Spag17 A G 3: 100,058,833 E1144G probably benign Het
Sphk2 G T 7: 45,710,733 Q616K probably benign Het
Tecrl T C 5: 83,294,606 T207A probably benign Het
Ubr5 T C 15: 37,996,598 T1885A probably benign Het
Usp24 T C 4: 106,375,768 probably benign Het
Usp32 A G 11: 85,036,524 M622T probably benign Het
Vangl1 A G 3: 102,184,291 F160L probably damaging Het
Vps13d T C 4: 145,086,747 S3289G probably damaging Het
Wdfy4 A G 14: 33,133,716 F647S probably damaging Het
Wdhd1 A G 14: 47,261,450 L509P probably damaging Het
Zcchc2 A G 1: 106,027,499 E640G probably damaging Het
Zfp563 T A 17: 33,105,409 I326N probably benign Het
Other mutations in Olfr1039
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Olfr1039 APN 2 86131668 utr 5 prime probably benign
IGL02958:Olfr1039 APN 2 86131007 missense probably benign 0.00
R0645:Olfr1039 UTSW 2 86131034 missense probably damaging 1.00
R1052:Olfr1039 UTSW 2 86131571 missense probably benign 0.13
R1613:Olfr1039 UTSW 2 86131063 missense probably damaging 1.00
R2132:Olfr1039 UTSW 2 86131261 missense possibly damaging 0.52
R3956:Olfr1039 UTSW 2 86131019 missense probably benign
R6372:Olfr1039 UTSW 2 86130854 missense possibly damaging 0.50
R7338:Olfr1039 UTSW 2 86131382 missense probably damaging 0.99
R7514:Olfr1039 UTSW 2 86131628 missense probably damaging 1.00
R7535:Olfr1039 UTSW 2 86131264 missense probably benign 0.00
R7537:Olfr1039 UTSW 2 86131264 missense probably benign 0.00
R8052:Olfr1039 UTSW 2 86131377 nonsense probably null
RF005:Olfr1039 UTSW 2 86131070 missense probably benign 0.01
Posted On2014-05-07