Incidental Mutation 'IGL01139:Olfr1006'
ID50609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1006
Ensembl Gene ENSMUSG00000075211
Gene Nameolfactory receptor 1006
SynonymsMOR213-4, GA_x6K02T2Q125-47154544-47153606
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01139
Quality Score
Status
Chromosome2
Chromosomal Location85673657-85678767 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 85674497 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 218 (Y218S)
Ref Sequence ENSEMBL: ENSMUSP00000149868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099917] [ENSMUST00000216084]
Predicted Effect probably damaging
Transcript: ENSMUST00000099917
AA Change: Y218S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097501
Gene: ENSMUSG00000075211
AA Change: Y218S

DomainStartEndE-ValueType
Pfam:7tm_4 39 315 1.3e-51 PFAM
Pfam:7tm_1 49 298 3.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099919
AA Change: Y218S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097503
Gene: ENSMUSG00000075211
AA Change: Y218S

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 3.7e-30 PFAM
Pfam:7tm_4 139 283 3.3e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216084
AA Change: Y218S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216207
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,405,885 I215N probably damaging Het
Ambn C T 5: 88,464,517 probably benign Het
Arhgef1 T A 7: 24,925,951 probably benign Het
Arid1a A C 4: 133,693,997 S832R unknown Het
Clca4a A T 3: 144,966,269 I304N probably damaging Het
Dmxl2 G A 9: 54,458,964 P274S probably damaging Het
Eif4enif1 T A 11: 3,221,143 D211E probably damaging Het
Eri2 A G 7: 119,786,737 probably null Het
Fhod3 C T 18: 25,066,344 P691S probably benign Het
Flnb A G 14: 7,945,989 S2465G probably damaging Het
Ftsj1 G A X: 8,246,592 R171C probably damaging Het
Glb1l3 G A 9: 26,818,227 T648I probably benign Het
Gm4222 T A 2: 90,148,545 probably benign Het
Gm438 A T 4: 144,777,689 Y297* probably null Het
Gm5475 G A 15: 100,424,215 probably benign Het
Jaml C A 9: 45,101,019 T268N possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Lrba A G 3: 86,642,662 T217A possibly damaging Het
Ltn1 A G 16: 87,416,009 S555P probably benign Het
Map3k15 T A X: 160,072,879 M350K probably damaging Het
Mipol1 C A 12: 57,306,035 Y53* probably null Het
Mn1 A G 5: 111,421,449 D1095G probably damaging Het
Myh14 T C 7: 44,606,292 probably benign Het
Nrn1 A G 13: 36,730,216 C31R probably damaging Het
Nup210 A T 6: 91,030,097 L579H possibly damaging Het
Nxf2 T C X: 134,950,396 I578V probably benign Het
Obscn G A 11: 59,078,352 A172V probably damaging Het
Olfr55 T A 17: 33,176,782 Y123N probably damaging Het
Phtf1 A G 3: 104,005,602 D748G probably damaging Het
Psd3 A T 8: 67,908,535 Y863N probably damaging Het
Psmc6 C T 14: 45,343,710 T321I probably benign Het
Rassf6 T C 5: 90,608,966 *31W probably null Het
Rictor A C 15: 6,778,268 K791Q probably damaging Het
Slc12a9 C T 5: 137,322,842 M470I probably damaging Het
Tex28 A T X: 74,151,224 M367K possibly damaging Het
Thnsl2 A T 6: 71,138,734 V163D probably damaging Het
Tmco3 G A 8: 13,319,887 R633Q possibly damaging Het
Trf A T 9: 103,223,604 V224D probably damaging Het
Ttc8 C T 12: 98,964,545 Q273* probably null Het
Usp9x A G X: 13,104,576 probably benign Het
Vmn2r117 A G 17: 23,477,804 W210R probably damaging Het
Vmn2r5 A G 3: 64,491,405 S718P probably benign Het
Vps13a T C 19: 16,640,625 D2932G probably damaging Het
Whamm T C 7: 81,595,914 L706P probably damaging Het
Yeats2 G A 16: 20,214,393 V45I probably damaging Het
Yipf3 G A 17: 46,250,457 probably null Het
Zeb1 T C 18: 5,705,061 V26A possibly damaging Het
Other mutations in Olfr1006
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Olfr1006 APN 2 85674357 missense probably benign 0.00
IGL01939:Olfr1006 APN 2 85674941 missense probably damaging 1.00
IGL02060:Olfr1006 APN 2 85674834 missense probably benign 0.34
IGL02171:Olfr1006 APN 2 85674941 missense probably damaging 1.00
IGL03058:Olfr1006 APN 2 85674681 missense probably benign 0.00
IGL03210:Olfr1006 APN 2 85674353 missense probably damaging 1.00
R0294:Olfr1006 UTSW 2 85674716 missense probably damaging 0.99
R1304:Olfr1006 UTSW 2 85674338 missense probably damaging 1.00
R1476:Olfr1006 UTSW 2 85674918 missense possibly damaging 0.92
R4757:Olfr1006 UTSW 2 85674320 missense probably damaging 1.00
R4793:Olfr1006 UTSW 2 85674498 missense probably damaging 1.00
R5804:Olfr1006 UTSW 2 85674338 missense probably damaging 1.00
R6146:Olfr1006 UTSW 2 85674594 nonsense probably null
R6511:Olfr1006 UTSW 2 85674840 missense possibly damaging 0.61
R6896:Olfr1006 UTSW 2 85674933 missense probably damaging 0.97
R7075:Olfr1006 UTSW 2 85674824 missense
R7344:Olfr1006 UTSW 2 85674931 nonsense probably null
R7350:Olfr1006 UTSW 2 85674845 missense
Posted On2013-06-21