Incidental Mutation 'IGL02540:Olfr259'
ID297670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr259
Ensembl Gene ENSMUSG00000075160
Gene Nameolfactory receptor 259
SynonymsGA_x6K02T2N869-1820-882, MOR172-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL02540
Quality Score
Status
Chromosome2
Chromosomal Location87104578-87114567 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87108042 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 115 (L115Q)
Ref Sequence ENSEMBL: ENSMUSP00000151207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099862] [ENSMUST00000213978] [ENSMUST00000215828] [ENSMUST00000216088]
Predicted Effect probably damaging
Transcript: ENSMUST00000099862
AA Change: L115Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097448
Gene: ENSMUSG00000075160
AA Change: L115Q

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.6e-53 PFAM
Pfam:7tm_1 41 290 5.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213978
AA Change: L115Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215828
AA Change: L115Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216088
AA Change: L115Q

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor2 C A 6: 119,359,495 R169L probably benign Het
AI314180 A T 4: 58,805,534 probably benign Het
Arhgap1 C T 2: 91,670,239 T371I probably damaging Het
Brpf3 C T 17: 28,828,354 P1031S probably damaging Het
Cenpu A G 8: 46,578,319 H245R probably damaging Het
Dhx36 A G 3: 62,506,888 S18P probably benign Het
Dst A G 1: 34,135,204 T217A probably damaging Het
Entpd8 A G 2: 25,084,719 probably null Het
Fez1 A G 9: 36,850,399 R122G probably damaging Het
Heatr5b A T 17: 78,773,572 M1417K probably damaging Het
Higd1c T C 15: 100,365,366 probably benign Het
Icosl G A 10: 78,069,536 probably null Het
Il24 T C 1: 130,887,303 probably benign Het
Kank3 T A 17: 33,819,187 probably benign Het
Lrriq1 A G 10: 103,215,019 L624P probably benign Het
Mov10l1 C A 15: 89,018,211 T768K probably benign Het
Olfr304 T A 7: 86,386,178 T161S possibly damaging Het
Olfr995 A G 2: 85,438,915 M81T probably benign Het
Pkn2 A T 3: 142,809,704 F649I probably benign Het
Pld1 A G 3: 28,029,160 probably benign Het
Prrc2c G A 1: 162,723,137 S86L probably damaging Het
Rai1 G A 11: 60,186,924 A605T probably benign Het
Reln T A 5: 22,034,752 Q839L probably damaging Het
Rrp9 T C 9: 106,483,547 probably benign Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tmtc2 A T 10: 105,413,339 C178S probably benign Het
Vmn1r172 T A 7: 23,659,925 F78L probably benign Het
Zfpm1 A G 8: 122,332,120 S160G possibly damaging Het
Other mutations in Olfr259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02264:Olfr259 APN 2 87107441 utr 3 prime probably benign
IGL02572:Olfr259 APN 2 87108366 missense possibly damaging 0.63
R2091:Olfr259 UTSW 2 87108262 missense probably damaging 1.00
R2928:Olfr259 UTSW 2 87107763 missense possibly damaging 0.88
R4107:Olfr259 UTSW 2 87107655 missense probably damaging 1.00
R4332:Olfr259 UTSW 2 87107745 missense possibly damaging 0.79
R4929:Olfr259 UTSW 2 87108183 missense possibly damaging 0.79
R5027:Olfr259 UTSW 2 87107806 missense probably benign 0.40
R6005:Olfr259 UTSW 2 87108063 missense probably benign 0.00
R6191:Olfr259 UTSW 2 87107952 missense probably damaging 1.00
R6358:Olfr259 UTSW 2 87108434 start gained probably benign
R6399:Olfr259 UTSW 2 87107986 missense probably benign 0.21
R6554:Olfr259 UTSW 2 87107626 missense probably benign 0.34
R7836:Olfr259 UTSW 2 87107517 missense probably damaging 1.00
R7881:Olfr259 UTSW 2 87108057 missense probably damaging 0.99
R7919:Olfr259 UTSW 2 87107517 missense probably damaging 1.00
R7964:Olfr259 UTSW 2 87108057 missense probably damaging 0.99
R8069:Olfr259 UTSW 2 87108067 missense probably damaging 1.00
Posted On2015-04-16