Incidental Mutation 'IGL02743:Olfr1295'
ID305977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1295
Ensembl Gene ENSMUSG00000108919
Gene Nameolfactory receptor 1295
SynonymsGA_x6K02T2Q125-72616944-72616006, MOR248-10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL02743
Quality Score
Status
Chromosome2
Chromosomal Location111561423-111569681 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111564543 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 300 (R300S)
Ref Sequence ENSEMBL: ENSMUSP00000151314 (fasta)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207283
AA Change: R300S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207786
AA Change: R300S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209152
Predicted Effect possibly damaging
Transcript: ENSMUST00000217772
AA Change: R300S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn A C 5: 88,464,484 D188A probably damaging Het
Arfgef1 T C 1: 10,199,829 E365G probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
AW554918 C T 18: 25,289,944 Q151* probably null Het
Chd6 T C 2: 160,960,263 D2217G probably damaging Het
Cntn5 T A 9: 9,984,110 E166V probably damaging Het
Cyp4f15 T C 17: 32,699,952 S319P possibly damaging Het
Dna2 G A 10: 62,957,042 V279I possibly damaging Het
Edrf1 A G 7: 133,656,491 probably benign Het
Fmo3 A T 1: 162,958,483 F313I probably damaging Het
Kcnj10 A G 1: 172,369,654 D245G possibly damaging Het
Lrsam1 T C 2: 32,928,649 probably null Het
Mfn1 A T 3: 32,574,290 H690L probably benign Het
Msh2 T C 17: 87,707,215 F474L probably damaging Het
Nlrp4a T G 7: 26,459,815 probably benign Het
Olfr1424 A G 19: 12,059,447 F102L probably damaging Het
Olfr314 T A 11: 58,786,780 L182* probably null Het
Olfr561 T A 7: 102,775,298 I258N probably damaging Het
Olfr668 T C 7: 104,924,868 T299A probably damaging Het
Olfr955 G A 9: 39,470,246 T160I probably benign Het
Plcxd3 G A 15: 4,574,803 V298I possibly damaging Het
Prrc2b C T 2: 32,194,429 S302F probably damaging Het
Serpine2 A T 1: 79,801,555 F149I probably damaging Het
Slc24a5 T C 2: 125,088,234 L485P probably damaging Het
Spg11 T A 2: 122,059,507 H2118L probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stxbp1 T C 2: 32,819,901 D60G probably damaging Het
Themis2 T A 4: 132,783,484 E582D probably benign Het
Tmem131 T G 1: 36,793,151 I1802L probably benign Het
Tnrc6a A G 7: 123,171,473 K829E probably damaging Het
Usp8 T C 2: 126,734,023 M213T probably damaging Het
Wnk2 A G 13: 49,095,444 V377A probably damaging Het
Wwox T G 8: 115,351,704 Y375D probably damaging Het
Other mutations in Olfr1295
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02110:Olfr1295 APN 2 111564907 missense probably damaging 1.00
IGL02426:Olfr1295 APN 2 111564538 missense probably benign
IGL02638:Olfr1295 APN 2 111564904 missense probably damaging 1.00
IGL03161:Olfr1295 APN 2 111565331 missense possibly damaging 0.78
G1patch:Olfr1295 UTSW 2 111564907 missense probably damaging 1.00
PIT4377001:Olfr1295 UTSW 2 111565211 missense probably damaging 0.98
R0448:Olfr1295 UTSW 2 111565214 missense probably benign 0.42
R1634:Olfr1295 UTSW 2 111565346 missense probably benign 0.00
R2065:Olfr1295 UTSW 2 111564712 missense probably damaging 0.99
R5308:Olfr1295 UTSW 2 111564554 missense probably damaging 0.99
R5534:Olfr1295 UTSW 2 111565004 missense probably benign 0.00
R5990:Olfr1295 UTSW 2 111564674 missense probably damaging 0.99
R6725:Olfr1295 UTSW 2 111564907 missense probably damaging 1.00
R7492:Olfr1295 UTSW 2 111564821 missense probably benign 0.00
R8116:Olfr1295 UTSW 2 111565438 missense probably benign 0.01
R8400:Olfr1295 UTSW 2 111565402 missense probably damaging 1.00
R8493:Olfr1295 UTSW 2 111564979 missense probably damaging 1.00
Posted On2015-04-16