Incidental Mutation 'IGL02583:Olfr59'
ID299431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr59
Ensembl Gene ENSMUSG00000070374
Gene Nameolfactory receptor 59
SynonymsMOR133-3P, IH3, GA_x6K02T2P1NL-4434429-4435400
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02583
Quality Score
Status
Chromosome11
Chromosomal Location74283736-74291608 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 74289504 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 286 (L286Q)
Ref Sequence ENSEMBL: ENSMUSP00000148959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143976] [ENSMUST00000205790] [ENSMUST00000206659] [ENSMUST00000214048]
Predicted Effect probably damaging
Transcript: ENSMUST00000119717
AA Change: L286Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112522
Gene: ENSMUSG00000070374
AA Change: L286Q

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 2.2e-59 PFAM
Pfam:7tm_1 41 292 3.2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143976
AA Change: L286Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119877
Gene: ENSMUSG00000070374
AA Change: L286Q

DomainStartEndE-ValueType
Pfam:7tm_1 41 237 7.5e-34 PFAM
Pfam:7tm_4 139 237 1.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205790
Predicted Effect probably benign
Transcript: ENSMUST00000206659
Predicted Effect probably damaging
Transcript: ENSMUST00000214048
AA Change: L286Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik C T 5: 26,479,719 noncoding transcript Het
A430005L14Rik T A 4: 153,960,935 D140E possibly damaging Het
Bod1l C T 5: 41,816,207 probably null Het
Brms1 T A 19: 5,046,178 V61D probably damaging Het
Card11 A T 5: 140,878,126 N952K probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col15a1 T C 4: 47,279,866 V697A probably benign Het
Col7a1 A T 9: 108,962,229 I1118F unknown Het
Cyfip2 T C 11: 46,249,758 E746G possibly damaging Het
Dach1 A G 14: 97,828,394 probably benign Het
Dock11 G T X: 36,006,717 G1023W possibly damaging Het
Fbxo10 T C 4: 45,044,754 D453G probably damaging Het
Fhad1 T C 4: 142,011,644 probably benign Het
Gm17415 A G 1: 93,422,079 probably benign Het
Gm4781 A T 10: 100,396,645 noncoding transcript Het
Gpatch2 A C 1: 187,233,317 probably null Het
Gpatch2 G T 1: 187,233,318 probably null Het
Greb1 A G 12: 16,706,295 probably benign Het
Greb1l A G 18: 10,542,362 Y1319C probably damaging Het
Ice1 C T 13: 70,605,735 R744H possibly damaging Het
Kcnq2 T A 2: 181,081,502 S694C probably benign Het
Krt35 C A 11: 100,092,534 V448L possibly damaging Het
Lexm A T 4: 106,611,405 probably benign Het
Lmo7 A G 14: 101,933,924 probably benign Het
Megf8 T C 7: 25,355,793 S1984P probably benign Het
Nlrp1a T C 11: 71,123,401 Q341R probably benign Het
Olfr575 T C 7: 102,954,711 T297A possibly damaging Het
Osr1 C T 12: 9,579,675 H183Y probably damaging Het
Paf1 T C 7: 28,396,171 V202A probably damaging Het
Pde10a A G 17: 8,981,630 K1071E probably benign Het
Pwp2 T C 10: 78,181,083 R268G probably benign Het
Rwdd1 T A 10: 34,001,673 K178* probably null Het
Scn10a A T 9: 119,691,440 probably benign Het
Sema3g A G 14: 31,221,519 probably null Het
Slc22a6 C A 19: 8,623,616 A391E possibly damaging Het
Slc41a3 G A 6: 90,644,171 G372S probably damaging Het
Sqor G T 2: 122,799,770 K3N probably damaging Het
Srl T C 16: 4,492,380 Q495R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stxbp3 G T 3: 108,800,871 D371E probably damaging Het
Tnfrsf19 C A 14: 61,024,210 V47F probably damaging Het
Usp11 A T X: 20,718,045 E622V probably benign Het
Vmn1r52 T A 6: 90,179,144 Y143* probably null Het
Zfp280d A G 9: 72,322,445 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zmat1 T C X: 134,973,272 T457A probably damaging Het
Other mutations in Olfr59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Olfr59 APN 11 74289126 missense probably damaging 1.00
IGL00337:Olfr59 APN 11 74289387 missense probably damaging 0.97
IGL01307:Olfr59 APN 11 74289428 missense possibly damaging 0.88
IGL01488:Olfr59 APN 11 74288688 missense probably damaging 1.00
IGL02839:Olfr59 APN 11 74289370 nonsense probably null
IGL02996:Olfr59 APN 11 74289165 missense probably benign 0.08
R0013:Olfr59 UTSW 11 74289051 missense possibly damaging 0.88
R0077:Olfr59 UTSW 11 74288675 missense probably benign 0.00
R0078:Olfr59 UTSW 11 74289266 missense probably damaging 1.00
R0734:Olfr59 UTSW 11 74288946 missense probably damaging 1.00
R1033:Olfr59 UTSW 11 74288666 missense probably damaging 0.99
R1556:Olfr59 UTSW 11 74288936 missense probably damaging 1.00
R1721:Olfr59 UTSW 11 74289300 missense probably damaging 1.00
R1737:Olfr59 UTSW 11 74288811 missense probably damaging 1.00
R1848:Olfr59 UTSW 11 74289213 missense probably damaging 0.99
R1881:Olfr59 UTSW 11 74288666 missense probably benign 0.08
R2057:Olfr59 UTSW 11 74288826 missense probably damaging 1.00
R2107:Olfr59 UTSW 11 74289390 missense probably damaging 1.00
R4399:Olfr59 UTSW 11 74288856 missense probably damaging 1.00
R4633:Olfr59 UTSW 11 74289294 missense probably benign 0.00
R5593:Olfr59 UTSW 11 74288792 missense possibly damaging 0.65
R5988:Olfr59 UTSW 11 74288853 missense probably benign
R6104:Olfr59 UTSW 11 74289366 missense probably damaging 1.00
R7436:Olfr59 UTSW 11 74288685 missense possibly damaging 0.84
Z1088:Olfr59 UTSW 11 74288835 missense probably damaging 1.00
Posted On2015-04-16