Incidental Mutation 'IGL01863:Or5ae2'
ID 178422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ae2
Ensembl Gene ENSMUSG00000070460
Gene Name olfactory receptor family 5 subfamily AE member 2
Synonyms GA_x6K02T2NHDJ-11231385-11230438, Olfr291, MOR254-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL01863
Quality Score
Chromosome 7
Chromosomal Location 84502779-84506526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84505619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 14 (L14P)
Ref Sequence ENSEMBL: ENSMUSP00000150934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000211582] [ENSMUST00000217039]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000077303
Gene: ENSMUSG00000070460
AA Change: L14P

Pfam:7tm_4 33 311 3e-54 PFAM
Pfam:7TM_GPCR_Srsx 37 270 1.5e-10 PFAM
Pfam:7tm_1 43 293 1.9e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211582
AA Change: L16P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217039
AA Change: L14P

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,215,907 (GRCm39) I326F possibly damaging Het
Aimp1 T C 3: 132,377,853 (GRCm39) T171A probably benign Het
Ash1l T A 3: 88,892,813 (GRCm39) L1564* probably null Het
Atp1a1 G T 3: 101,499,205 (GRCm39) Y131* probably null Het
Celsr2 T C 3: 108,301,338 (GRCm39) E2686G probably benign Het
Cyp4f18 A G 8: 72,743,770 (GRCm39) V395A possibly damaging Het
Dnaaf11 A T 15: 66,268,823 (GRCm39) probably benign Het
Ephb2 T C 4: 136,387,088 (GRCm39) Q713R probably benign Het
Esf1 A T 2: 139,962,599 (GRCm39) M824K probably benign Het
Fat4 T C 3: 39,024,768 (GRCm39) probably benign Het
Gem A G 4: 11,705,980 (GRCm39) I23V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Il6st A G 13: 112,640,744 (GRCm39) E779G possibly damaging Het
Lama3 T A 18: 12,552,993 (GRCm39) probably benign Het
Lipi A C 16: 75,347,114 (GRCm39) I435R probably damaging Het
Odad2 T C 18: 7,222,617 (GRCm39) T551A probably damaging Het
Omg C T 11: 79,393,050 (GRCm39) M269I probably benign Het
Optn A T 2: 5,026,298 (GRCm39) probably benign Het
Pex1 A G 5: 3,656,066 (GRCm39) T298A probably benign Het
Rab27b T A 18: 70,122,625 (GRCm39) R111S probably damaging Het
Rhbdf1 T G 11: 32,163,484 (GRCm39) E329D probably benign Het
Slc2a13 T C 15: 91,400,695 (GRCm39) I176V probably benign Het
Slc30a1 T A 1: 191,641,196 (GRCm39) C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 (GRCm38) C509S probably damaging Het
Slfn9 T C 11: 82,872,151 (GRCm39) R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 (GRCm39) I782T possibly damaging Het
Tent5c C T 3: 100,379,980 (GRCm39) D259N probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b T C 7: 79,924,059 (GRCm39) probably null Het
Wrap73 A G 4: 154,229,790 (GRCm39) I54V probably benign Het
Other mutations in Or5ae2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02643:Or5ae2 APN 7 84,506,239 (GRCm39) missense probably damaging 1.00
IGL02928:Or5ae2 APN 7 84,506,273 (GRCm39) missense probably benign 0.08
IGL03124:Or5ae2 APN 7 84,505,931 (GRCm39) missense probably damaging 0.99
R0129:Or5ae2 UTSW 7 84,506,196 (GRCm39) missense probably benign
R0605:Or5ae2 UTSW 7 84,506,345 (GRCm39) missense probably damaging 1.00
R1085:Or5ae2 UTSW 7 84,505,987 (GRCm39) missense probably benign 0.05
R1477:Or5ae2 UTSW 7 84,506,225 (GRCm39) missense probably damaging 1.00
R1834:Or5ae2 UTSW 7 84,505,690 (GRCm39) missense probably damaging 0.99
R1839:Or5ae2 UTSW 7 84,505,756 (GRCm39) missense probably damaging 1.00
R2036:Or5ae2 UTSW 7 84,505,566 (GRCm39) start gained probably benign
R4214:Or5ae2 UTSW 7 84,506,497 (GRCm39) missense probably benign
R4386:Or5ae2 UTSW 7 84,505,756 (GRCm39) missense probably damaging 1.00
R4679:Or5ae2 UTSW 7 84,506,112 (GRCm39) nonsense probably null
R4789:Or5ae2 UTSW 7 84,506,509 (GRCm39) missense probably benign 0.09
R4841:Or5ae2 UTSW 7 84,506,328 (GRCm39) missense probably damaging 1.00
R5011:Or5ae2 UTSW 7 84,505,646 (GRCm39) missense probably damaging 1.00
R5013:Or5ae2 UTSW 7 84,505,646 (GRCm39) missense probably damaging 1.00
R6127:Or5ae2 UTSW 7 84,506,410 (GRCm39) missense probably damaging 1.00
R7164:Or5ae2 UTSW 7 84,506,251 (GRCm39) missense possibly damaging 0.73
R7328:Or5ae2 UTSW 7 84,506,507 (GRCm39) missense probably benign 0.01
R8347:Or5ae2 UTSW 7 84,505,963 (GRCm39) missense probably damaging 0.99
R8434:Or5ae2 UTSW 7 84,506,497 (GRCm39) missense probably benign
R8882:Or5ae2 UTSW 7 84,505,681 (GRCm39) missense probably damaging 1.00
R9242:Or5ae2 UTSW 7 84,506,086 (GRCm39) nonsense probably null
R9640:Or5ae2 UTSW 7 84,506,114 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07