Incidental Mutation 'IGL02726:Olfr1008'
ID305219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1008
Ensembl Gene ENSMUSG00000050603
Gene Nameolfactory receptor 1008
SynonymsMOR187-3, GA_x6K02T2Q125-47170431-47171372
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02726
Quality Score
Status
Chromosome2
Chromosomal Location85689431-85690372 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 85690210 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 260 (L260F)
Ref Sequence ENSEMBL: ENSMUSP00000061191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054868]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054868
AA Change: L260F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061191
Gene: ENSMUSG00000050603
AA Change: L260F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.9e-46 PFAM
Pfam:7tm_1 41 290 2.4e-14 PFAM
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A G 13: 34,952,960 probably benign Het
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Art1 G A 7: 102,110,748 V85M probably damaging Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Clec4a4 A T 6: 122,990,379 I5F probably damaging Het
Cr1l A T 1: 195,129,880 I45N probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dnal4 A G 15: 79,763,544 V40A probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Ikbkap T A 4: 56,767,878 probably null Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Kcnk4 A G 19: 6,927,089 probably null Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr393 T C 11: 73,847,865 S87G probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Pf4 T C 5: 90,772,664 V28A probably benign Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Olfr1008
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Olfr1008 APN 2 85689663 missense probably benign 0.01
IGL02192:Olfr1008 APN 2 85690128 missense possibly damaging 0.80
IGL02560:Olfr1008 APN 2 85689519 missense possibly damaging 0.79
IGL02756:Olfr1008 APN 2 85690058 missense probably damaging 0.99
R0463:Olfr1008 UTSW 2 85689839 missense possibly damaging 0.94
R0961:Olfr1008 UTSW 2 85689446 missense probably benign 0.00
R0964:Olfr1008 UTSW 2 85690365 missense probably benign
R1259:Olfr1008 UTSW 2 85689531 missense probably damaging 0.98
R1756:Olfr1008 UTSW 2 85690083 missense probably damaging 1.00
R1871:Olfr1008 UTSW 2 85690311 missense probably damaging 1.00
R1882:Olfr1008 UTSW 2 85689606 missense probably damaging 1.00
R6573:Olfr1008 UTSW 2 85689999 missense probably damaging 0.99
R6640:Olfr1008 UTSW 2 85689935 missense probably damaging 1.00
R6746:Olfr1008 UTSW 2 85689608 missense probably damaging 1.00
R7045:Olfr1008 UTSW 2 85689911 missense possibly damaging 0.49
Posted On2015-04-16