Incidental Mutation 'IGL03493:Or13a27'
ID 490707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13a27
Ensembl Gene ENSMUSG00000060112
Gene Name olfactory receptor family 13 subfamily A member 27
Synonyms MOR253-6, Olfr60, GA_x6K02T2PBJ9-42496183-42495251, IH6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL03493
Quality Score
Status
Chromosome 7
Chromosomal Location 139924965-139925900 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139925066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 279 (Y279N)
Ref Sequence ENSEMBL: ENSMUSP00000150685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075470] [ENSMUST00000210932] [ENSMUST00000211031] [ENSMUST00000215023] [ENSMUST00000216027]
AlphaFold Q8VGL4
Predicted Effect probably damaging
Transcript: ENSMUST00000075470
AA Change: Y279N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074916
Gene: ENSMUSG00000060112
AA Change: Y279N

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 1.2e-50 PFAM
Pfam:7TM_GPCR_Srsx 36 161 1.8e-8 PFAM
Pfam:7tm_1 42 291 2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210932
AA Change: Y279N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211031
AA Change: Y279N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211655
Predicted Effect probably damaging
Transcript: ENSMUST00000215023
AA Change: Y279N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216027
AA Change: Y279N

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart1 G A 4: 72,769,884 (GRCm39) T253I probably damaging Het
Ampd2 T C 3: 107,982,674 (GRCm39) E694G probably damaging Het
Atcay C A 10: 81,046,407 (GRCm39) E306* probably null Het
Atp13a5 G T 16: 29,116,342 (GRCm39) D546E probably benign Het
C2cd2 T C 16: 97,682,861 (GRCm39) D125G probably damaging Het
Col23a1 T C 11: 51,455,632 (GRCm39) probably null Het
Col9a1 T A 1: 24,260,651 (GRCm39) probably benign Het
Cyp4a31 T A 4: 115,427,952 (GRCm39) probably null Het
Dnah11 G A 12: 117,976,533 (GRCm39) R2708C probably benign Het
Dzip3 T C 16: 48,772,059 (GRCm39) I537V probably benign Het
Ezh1 T C 11: 101,094,617 (GRCm39) T392A probably benign Het
Hsd17b14 A T 7: 45,205,515 (GRCm39) D42V probably damaging Het
Hsf2 A T 10: 57,381,462 (GRCm39) I294F probably damaging Het
Ibtk G T 9: 85,600,972 (GRCm39) S797R probably benign Het
Kif20b T A 19: 34,936,950 (GRCm39) C183* probably null Het
Lnpep G T 17: 17,799,433 (GRCm39) A74E probably damaging Het
Map4k1 A T 7: 28,683,576 (GRCm39) probably benign Het
Matn1 A G 4: 130,677,309 (GRCm39) R173G probably benign Het
Nyap1 A G 5: 137,733,278 (GRCm39) I585T probably damaging Het
Or52e7 A G 7: 104,685,151 (GRCm39) T249A probably damaging Het
Or5d39 G A 2: 87,980,280 (GRCm39) P28S probably benign Het
Phactr2 A G 10: 13,133,413 (GRCm39) V190A probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Rad51c A T 11: 87,288,579 (GRCm39) H201Q probably benign Het
Sec63 C A 10: 42,704,937 (GRCm39) D730E probably benign Het
Smarcc2 A G 10: 128,297,226 (GRCm39) I39M probably damaging Het
Trav2 A G 14: 52,804,745 (GRCm39) probably benign Het
Ugt3a1 A G 15: 9,361,569 (GRCm39) Y115C probably damaging Het
Zfp955b T G 17: 33,521,519 (GRCm39) H329Q probably benign Het
Other mutations in Or13a27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Or13a27 APN 7 139,925,123 (GRCm39) missense probably damaging 1.00
R0413:Or13a27 UTSW 7 139,925,108 (GRCm39) missense possibly damaging 0.94
R0652:Or13a27 UTSW 7 139,925,545 (GRCm39) missense probably damaging 1.00
R1848:Or13a27 UTSW 7 139,925,900 (GRCm39) start codon destroyed probably benign
R1908:Or13a27 UTSW 7 139,925,378 (GRCm39) missense probably benign 0.05
R1909:Or13a27 UTSW 7 139,925,378 (GRCm39) missense probably benign 0.05
R5133:Or13a27 UTSW 7 139,925,236 (GRCm39) missense probably damaging 1.00
R5320:Or13a27 UTSW 7 139,925,548 (GRCm39) missense probably benign 0.00
R5429:Or13a27 UTSW 7 139,925,186 (GRCm39) missense possibly damaging 0.67
R6595:Or13a27 UTSW 7 139,925,560 (GRCm39) missense probably damaging 1.00
R6621:Or13a27 UTSW 7 139,925,368 (GRCm39) missense probably damaging 1.00
R7300:Or13a27 UTSW 7 139,925,268 (GRCm39) missense probably damaging 1.00
R7409:Or13a27 UTSW 7 139,925,318 (GRCm39) missense probably benign 0.00
R7562:Or13a27 UTSW 7 139,925,143 (GRCm39) missense probably damaging 1.00
R7646:Or13a27 UTSW 7 139,925,864 (GRCm39) missense probably damaging 1.00
R8158:Or13a27 UTSW 7 139,925,162 (GRCm39) missense probably benign 0.03
R8233:Or13a27 UTSW 7 139,925,411 (GRCm39) missense probably benign 0.01
R8238:Or13a27 UTSW 7 139,925,803 (GRCm39) missense probably damaging 1.00
R8338:Or13a27 UTSW 7 139,925,306 (GRCm39) missense probably benign 0.00
R9794:Or13a27 UTSW 7 139,925,483 (GRCm39) nonsense probably null
Z1088:Or13a27 UTSW 7 139,925,717 (GRCm39) missense probably benign 0.42
Posted On 2017-10-20