Incidental Mutation 'IGL01010:Olfr1053'
ID53428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1053
Ensembl Gene ENSMUSG00000075192
Gene Nameolfactory receptor 1053
SynonymsGA_x6K02T2Q125-47793414-47792471, Olfr1053-ps1, MOR187-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01010
Quality Score
Status
Chromosome2
Chromosomal Location86314343-86315284 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86314944 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 114 (I114N)
Ref Sequence ENSEMBL: ENSMUSP00000097481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099897]
Predicted Effect probably damaging
Transcript: ENSMUST00000099897
AA Change: I114N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097481
Gene: ENSMUSG00000075192
AA Change: I114N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1e-45 PFAM
Pfam:7tm_1 41 290 1.2e-17 PFAM
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 72,445,215 S155R probably damaging Het
Acss3 G T 10: 107,023,849 probably benign Het
Ano4 G A 10: 88,960,600 T680I probably benign Het
Drosha C T 15: 12,827,289 probably benign Het
Ehd3 A G 17: 73,827,489 D281G probably damaging Het
Exoc5 A G 14: 49,037,755 L196P probably damaging Het
Gal3st1 T C 11: 3,996,914 probably benign Het
Gart G A 16: 91,643,092 R4* probably null Het
Gm21738 T A 14: 19,417,361 T56S probably benign Het
Gm3573 T A 14: 42,187,566 I141L probably benign Het
Gpr6 A G 10: 41,071,151 M145T probably benign Het
Kcns3 T C 12: 11,092,426 M91V probably benign Het
Marc2 T G 1: 184,819,316 I308L probably benign Het
Mto1 A G 9: 78,461,643 K529R probably benign Het
Naip2 A T 13: 100,154,938 V1164D probably damaging Het
Olfr695 T C 7: 106,874,253 probably benign Het
Plekha1 T C 7: 130,902,254 probably benign Het
Psg26 T C 7: 18,478,330 S367G possibly damaging Het
Rps6kb1 T C 11: 86,502,766 M513V probably benign Het
Slitrk3 C T 3: 73,049,273 G722D probably benign Het
Sssca1 A G 19: 5,731,265 S78P probably damaging Het
Stag1 A G 9: 100,945,933 E1005G probably benign Het
Tgfbr2 A T 9: 116,129,980 L122Q possibly damaging Het
Traf2 G A 2: 25,520,438 R400* probably null Het
Trim33 C T 3: 103,346,715 Q153* probably null Het
Zmynd15 T C 11: 70,465,916 Y551H probably damaging Het
Other mutations in Olfr1053
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Olfr1053 APN 2 86314793 missense possibly damaging 0.50
IGL02503:Olfr1053 APN 2 86314639 missense possibly damaging 0.71
IGL03342:Olfr1053 APN 2 86315235 missense possibly damaging 0.85
PIT4520001:Olfr1053 UTSW 2 86314798 missense possibly damaging 0.78
R0562:Olfr1053 UTSW 2 86314525 missense probably benign 0.00
R1026:Olfr1053 UTSW 2 86315214 missense possibly damaging 0.80
R1134:Olfr1053 UTSW 2 86315181 missense probably damaging 1.00
R1200:Olfr1053 UTSW 2 86315133 missense probably damaging 0.99
R1566:Olfr1053 UTSW 2 86314785 missense probably benign 0.01
R1588:Olfr1053 UTSW 2 86314530 missense probably damaging 1.00
R1747:Olfr1053 UTSW 2 86314867 missense probably benign 0.00
R1951:Olfr1053 UTSW 2 86315160 missense probably damaging 1.00
R1975:Olfr1053 UTSW 2 86315154 missense probably damaging 0.99
R2291:Olfr1053 UTSW 2 86315180 nonsense probably null
R2425:Olfr1053 UTSW 2 86314395 missense probably damaging 0.98
R5092:Olfr1053 UTSW 2 86314362 missense probably benign 0.00
R5651:Olfr1053 UTSW 2 86314440 missense probably benign 0.23
R5733:Olfr1053 UTSW 2 86315214 missense probably damaging 0.98
R5767:Olfr1053 UTSW 2 86314398 missense probably damaging 1.00
R6307:Olfr1053 UTSW 2 86315124 missense probably benign
R6720:Olfr1053 UTSW 2 86315065 missense probably damaging 0.99
R7067:Olfr1053 UTSW 2 86314567 missense probably damaging 1.00
R7289:Olfr1053 UTSW 2 86315025 missense probably benign 0.00
Posted On2013-06-28