Incidental Mutation 'IGL01160:Olfr1309'
ID53421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1309
Ensembl Gene ENSMUSG00000109528
Gene Nameolfactory receptor 1309
SynonymsMOR245-5, GA_x6K02T2Q125-73031456-73030518
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.265) question?
Stock #IGL01160
Quality Score
Status
Chromosome2
Chromosomal Location111979857-111990281 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111983933 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 47 (L47P)
Ref Sequence ENSEMBL: ENSMUSP00000150871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099604] [ENSMUST00000207885] [ENSMUST00000214537] [ENSMUST00000214935] [ENSMUST00000215045] [ENSMUST00000216948] [ENSMUST00000217452]
Predicted Effect probably damaging
Transcript: ENSMUST00000099604
AA Change: L55P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097199
Gene: ENSMUSG00000094747
AA Change: L55P

DomainStartEndE-ValueType
Pfam:7tm_4 38 311 1.5e-36 PFAM
Pfam:7tm_1 49 295 6.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207885
AA Change: L55P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214537
AA Change: L47P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214935
AA Change: L47P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215045
AA Change: L47P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216948
AA Change: L47P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217452
AA Change: L47P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
2210016F16Rik A G 13: 58,381,976 V274A probably damaging Het
Atp11a A G 8: 12,844,609 T188A probably damaging Het
Bfsp2 A G 9: 103,480,168 V20A probably benign Het
Btn1a1 G A 13: 23,461,737 T154M possibly damaging Het
Ccdc117 T C 11: 5,531,532 S200G probably benign Het
Col24a1 G A 3: 145,507,713 G1358S probably damaging Het
Crlf2 T C 5: 109,557,570 T40A possibly damaging Het
Cstf2 T A X: 134,060,729 probably benign Het
Dcdc2a A G 13: 25,119,329 D281G probably benign Het
Dmd T C X: 83,924,961 L1855P probably damaging Het
Dnajc5g T C 5: 31,110,185 V112A probably benign Het
Dnmt1 G A 9: 20,917,319 P828S possibly damaging Het
Dock3 A T 9: 106,906,688 S268R probably damaging Het
Dpep2 C T 8: 105,986,444 V440M possibly damaging Het
F8 A T X: 75,288,061 M741K probably damaging Het
Fermt3 C T 19: 7,003,258 probably null Het
Fosb A G 7: 19,307,114 probably null Het
Gm14085 A C 2: 122,524,796 probably null Het
Gm3238 C A 10: 77,770,883 probably benign Het
Hyal5 T A 6: 24,876,481 S118T possibly damaging Het
Igf2r T C 17: 12,704,775 D1140G possibly damaging Het
Ighmbp2 G T 19: 3,276,750 probably benign Het
Irf3 C A 7: 44,998,796 D28E possibly damaging Het
Ly6i A T 15: 74,980,032 I96N possibly damaging Het
Macrod2 T C 2: 140,825,042 probably benign Het
Olfr1222 A T 2: 89,125,728 M1K probably null Het
Olfr124 A G 17: 37,806,050 R302G probably benign Het
Olfr67 C T 7: 103,787,636 G214R probably damaging Het
Otof A T 5: 30,381,535 M1128K probably benign Het
Parp9 A T 16: 35,947,998 I183F probably damaging Het
Pbsn T C X: 77,842,571 N147S probably benign Het
Pcf11 A G 7: 92,661,686 S365P possibly damaging Het
Pcnx4 T G 12: 72,579,377 V1119G probably damaging Het
Rsf1 C T 7: 97,685,584 T1308M probably damaging Het
Sidt2 A G 9: 45,942,726 L647P probably damaging Het
Slc7a8 A G 14: 54,735,124 V280A probably benign Het
Spg20 T A 3: 55,121,756 F323I probably damaging Het
Supt16 A T 14: 52,183,132 D70E probably benign Het
Tmc4 T C 7: 3,675,518 Y38C possibly damaging Het
Tmco5b G T 2: 113,287,798 probably benign Het
Trav10 G A 14: 53,505,782 probably benign Het
Vmn2r28 A T 7: 5,486,478 M454K probably damaging Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Yipf7 T C 5: 69,519,317 I160V probably benign Het
Zc3h18 T C 8: 122,408,250 probably benign Het
Zfp429 G A 13: 67,391,013 S91L probably damaging Het
Other mutations in Olfr1309
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Olfr1309 APN 2 111983385 missense probably benign 0.35
R0234:Olfr1309 UTSW 2 111983300 missense probably damaging 0.99
R0234:Olfr1309 UTSW 2 111983300 missense probably damaging 0.99
R1777:Olfr1309 UTSW 2 111983697 missense possibly damaging 0.64
R1994:Olfr1309 UTSW 2 111984084 missense probably benign
R3892:Olfr1309 UTSW 2 111983141 missense probably benign 0.03
R3946:Olfr1309 UTSW 2 111983297 missense possibly damaging 0.68
R4541:Olfr1309 UTSW 2 111983636 missense probably benign 0.01
R5150:Olfr1309 UTSW 2 111984021 missense probably benign 0.11
R5275:Olfr1309 UTSW 2 111983829 missense probably damaging 1.00
R5293:Olfr1309 UTSW 2 111983266 missense probably damaging 0.99
R6080:Olfr1309 UTSW 2 111983705 missense probably damaging 1.00
R6258:Olfr1309 UTSW 2 111984051 missense probably benign 0.05
R6260:Olfr1309 UTSW 2 111984051 missense probably benign 0.05
R6291:Olfr1309 UTSW 2 111983624 missense probably benign 0.00
R6442:Olfr1309 UTSW 2 111983529 missense probably damaging 0.99
R7013:Olfr1309 UTSW 2 111983963 missense probably benign 0.31
R7326:Olfr1309 UTSW 2 111983327 nonsense probably null
R7483:Olfr1309 UTSW 2 111983779 missense probably damaging 0.98
R8078:Olfr1309 UTSW 2 111983270 missense probably damaging 1.00
X0062:Olfr1309 UTSW 2 111983601 missense probably benign 0.00
Z1176:Olfr1309 UTSW 2 111983753 missense probably benign 0.10
Posted On2013-06-28