Incidental Mutation 'IGL02751:Olfr109'
ID306292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr109
Ensembl Gene ENSMUSG00000029184
Gene Nameolfactory receptor 109
SynonymsGA_x6K02T2PSCP-1914078-1915022, MOR250-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02751
Quality Score
Status
Chromosome17
Chromosomal Location37458916-37471590 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37466415 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 70 (C70R)
Ref Sequence ENSEMBL: ENSMUSP00000150044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031086] [ENSMUST00000214668] [ENSMUST00000214938] [ENSMUST00000217602]
Predicted Effect probably damaging
Transcript: ENSMUST00000031086
AA Change: C70R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: C70R

DomainStartEndE-ValueType
Pfam:7tm_4 29 309 3.4e-54 PFAM
Pfam:7tm_1 39 291 6.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214668
AA Change: C70R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214938
AA Change: C70R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217602
AA Change: C70R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Olfr109
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01813:Olfr109 APN 17 37466758 missense probably damaging 1.00
IGL02039:Olfr109 APN 17 37466449 missense possibly damaging 0.49
IGL02391:Olfr109 APN 17 37466586 missense probably damaging 1.00
IGL02730:Olfr109 APN 17 37466859 missense probably damaging 1.00
IGL02891:Olfr109 APN 17 37466944 missense probably damaging 1.00
IGL03023:Olfr109 APN 17 37466994 missense probably benign
IGL03343:Olfr109 APN 17 37466409 missense probably damaging 1.00
R0026:Olfr109 UTSW 17 37466803 missense probably damaging 0.99
R0579:Olfr109 UTSW 17 37466347 missense probably benign 0.01
R1751:Olfr109 UTSW 17 37466901 missense probably benign 0.00
R1848:Olfr109 UTSW 17 37467047 missense probably damaging 0.99
R2392:Olfr109 UTSW 17 37466419 missense probably damaging 1.00
R4249:Olfr109 UTSW 17 37466824 missense probably damaging 0.98
R4464:Olfr109 UTSW 17 37466851 missense probably damaging 1.00
R4857:Olfr109 UTSW 17 37466823 missense possibly damaging 0.80
R4947:Olfr109 UTSW 17 37466743 missense probably damaging 1.00
R5107:Olfr109 UTSW 17 37466253 missense probably damaging 0.97
R5526:Olfr109 UTSW 17 37467112 missense unknown
R6147:Olfr109 UTSW 17 37466539 missense probably benign 0.00
R6416:Olfr109 UTSW 17 37467080 nonsense probably null
R7450:Olfr109 UTSW 17 37466616 missense probably benign 0.00
R7487:Olfr109 UTSW 17 37466566 missense probably damaging 0.96
R7822:Olfr109 UTSW 17 37467103 missense probably benign 0.00
X0063:Olfr109 UTSW 17 37466524 missense probably damaging 1.00
X0065:Olfr109 UTSW 17 37466318 missense probably damaging 1.00
Posted On2015-04-16