Incidental Mutation 'IGL02687:Or5ak25'
ID 303596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ak25
Ensembl Gene ENSMUSG00000075218
Gene Name olfactory receptor family 5 subfamily AK member 25
Synonyms MOR203-3, GA_x6K02T2Q125-46915844-46914897, Olfr995
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # IGL02687
Quality Score
Status
Chromosome 2
Chromosomal Location 85268553-85269500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85268930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 191 (N191Y)
Ref Sequence ENSEMBL: ENSMUSP00000149952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099924] [ENSMUST00000214679] [ENSMUST00000216933] [ENSMUST00000217218]
AlphaFold Q8VF74
Predicted Effect possibly damaging
Transcript: ENSMUST00000099924
AA Change: N191Y

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097508
Gene: ENSMUSG00000075218
AA Change: N191Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.1e-50 PFAM
Pfam:7tm_1 41 290 2.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215758
Predicted Effect possibly damaging
Transcript: ENSMUST00000216933
AA Change: N191Y

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000217218
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
Abca9 A G 11: 110,005,058 (GRCm39) V1315A probably damaging Het
Adam2 A T 14: 66,306,639 (GRCm39) C117S probably damaging Het
Arpp21 T A 9: 111,894,883 (GRCm39) R792* probably null Het
Atp13a3 A G 16: 30,156,369 (GRCm39) M938T probably damaging Het
Atp6v0a2 C T 5: 124,791,206 (GRCm39) T545M possibly damaging Het
BC051019 T C 7: 109,315,559 (GRCm39) D84G possibly damaging Het
Bdkrb1 T A 12: 105,571,091 (GRCm39) L219H probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap46 T C 7: 139,187,117 (GRCm39) D2415G probably damaging Het
Csgalnact2 T C 6: 118,101,376 (GRCm39) probably null Het
Cyp4a29 T C 4: 115,108,397 (GRCm39) C374R probably damaging Het
Dgkb C A 12: 38,680,628 (GRCm39) P776Q possibly damaging Het
Duox1 A T 2: 122,166,896 (GRCm39) K1005M probably damaging Het
Dusp6 C A 10: 99,102,044 (GRCm39) F343L probably damaging Het
Espl1 C T 15: 102,221,613 (GRCm39) probably benign Het
Filip1l T C 16: 57,391,490 (GRCm39) S455P probably benign Het
Gm7995 A G 14: 42,133,362 (GRCm39) I81V probably damaging Het
Lingo4 T C 3: 94,309,404 (GRCm39) L114P probably damaging Het
Mfsd6 A G 1: 52,747,834 (GRCm39) S344P probably damaging Het
Mpc1 G A 17: 8,515,975 (GRCm39) S162N probably benign Het
Myh11 T A 16: 14,030,482 (GRCm39) K1143* probably null Het
Nek10 T C 14: 14,840,570 (GRCm38) L152P probably damaging Het
Or52ab7 C T 7: 102,978,607 (GRCm39) R305* probably null Het
Or6c217 T C 10: 129,737,971 (GRCm39) M203V probably benign Het
Rab11a A G 9: 64,633,980 (GRCm39) I119T probably damaging Het
Spata31d1d T A 13: 59,875,678 (GRCm39) H619L possibly damaging Het
Ulk4 A T 9: 121,021,728 (GRCm39) V661E possibly damaging Het
Vmn1r199 T C 13: 22,566,961 (GRCm39) V85A possibly damaging Het
Other mutations in Or5ak25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02102:Or5ak25 APN 2 85,268,611 (GRCm39) missense probably damaging 1.00
IGL02540:Or5ak25 APN 2 85,269,259 (GRCm39) missense probably benign 0.05
IGL02713:Or5ak25 APN 2 85,268,981 (GRCm39) missense probably damaging 0.99
R0318:Or5ak25 UTSW 2 85,268,581 (GRCm39) missense possibly damaging 0.91
R0463:Or5ak25 UTSW 2 85,268,630 (GRCm39) missense probably damaging 1.00
R0638:Or5ak25 UTSW 2 85,268,845 (GRCm39) missense probably benign 0.03
R1668:Or5ak25 UTSW 2 85,269,220 (GRCm39) missense probably benign 0.00
R1718:Or5ak25 UTSW 2 85,269,149 (GRCm39) missense probably benign 0.39
R4981:Or5ak25 UTSW 2 85,268,813 (GRCm39) missense probably damaging 1.00
R5261:Or5ak25 UTSW 2 85,269,241 (GRCm39) missense probably benign
R7036:Or5ak25 UTSW 2 85,268,774 (GRCm39) missense probably damaging 1.00
R7899:Or5ak25 UTSW 2 85,268,741 (GRCm39) missense probably benign 0.39
R8209:Or5ak25 UTSW 2 85,268,981 (GRCm39) missense probably damaging 0.99
R8226:Or5ak25 UTSW 2 85,268,981 (GRCm39) missense probably damaging 0.99
R8803:Or5ak25 UTSW 2 85,268,981 (GRCm39) missense probably damaging 0.99
R9037:Or5ak25 UTSW 2 85,269,139 (GRCm39) missense possibly damaging 0.88
R9541:Or5ak25 UTSW 2 85,269,025 (GRCm39) missense possibly damaging 0.65
Posted On 2015-04-16