Incidental Mutation 'IGL00225:Or13a27'
ID 2325
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 # IGL00225
Quality Score
Status
Chromosome 7
Chromosomal Location 139924965-139925900 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139925123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 260 (Y260H)
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: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074916
Gene: ENSMUSG00000060112
AA Change: Y260H

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 noncoding transcript
Transcript: ENSMUST00000209726
Predicted Effect probably damaging
Transcript: ENSMUST00000210932
AA Change: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211031
AA Change: Y260H

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: Y260H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216027
AA Change: Y260H

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Flii T C 11: 60,614,241 (GRCm39) N93D probably benign Het
Gm8356 T C 14: 17,693,287 (GRCm39) K24E probably damaging Het
Hars1 G A 18: 36,901,225 (GRCm39) T409M probably damaging Het
Ivns1abp A G 1: 151,226,863 (GRCm39) probably null Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kdm4c T G 4: 74,263,804 (GRCm39) V696G probably benign Het
Klrb1f T A 6: 129,030,138 (GRCm39) probably benign Het
Lrp4 G A 2: 91,325,371 (GRCm39) V1399I probably benign Het
LTO1 G A 7: 144,471,405 (GRCm39) G86D possibly damaging Het
Mki67 A G 7: 135,291,849 (GRCm39) V3168A probably benign Het
Nf1 T A 11: 79,286,731 (GRCm39) I177K probably damaging Het
Nnt A T 13: 119,506,533 (GRCm39) N371K probably damaging Het
Or5p52 C T 7: 107,502,311 (GRCm39) P129L probably damaging Het
Prkdc G T 16: 15,627,508 (GRCm39) V3389L possibly damaging Het
Prr16 T A 18: 51,436,192 (GRCm39) Y224N possibly damaging Het
Ptgs1 G A 2: 36,127,231 (GRCm39) C39Y probably damaging Het
Sla T C 15: 66,654,479 (GRCm39) D269G possibly damaging Het
Stk38l T A 6: 146,659,971 (GRCm39) M1K probably null Het
Trim24 T A 6: 37,880,583 (GRCm39) N160K possibly damaging Het
Zfp451 A G 1: 33,825,621 (GRCm39) probably benign Het
Other mutations in Or13a27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03493:Or13a27 APN 7 139,925,066 (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 2011-12-09