Incidental Mutation 'IGL03255:Or5ae1'
ID 414614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ae1
Ensembl Gene ENSMUSG00000116179
Gene Name olfactory receptor family 5 subfamily AE member 1
Synonyms Olfr290, GA_x6K02T2NHDJ-11170115-11169168, MOR254-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # IGL03255
Quality Score
Status
Chromosome 7
Chromosomal Location 84564989-84565936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84565725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 246 (L246P)
Ref Sequence ENSEMBL: ENSMUSP00000149523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073468] [ENSMUST00000214501] [ENSMUST00000216184] [ENSMUST00000216367]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000073468
AA Change: L246P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: L246P

DomainStartEndE-ValueType
Pfam:7tm_4 31 309 8.4e-53 PFAM
Pfam:7TM_GPCR_Srsx 35 304 1.2e-10 PFAM
Pfam:7tm_1 41 291 1.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173463
Predicted Effect possibly damaging
Transcript: ENSMUST00000214501
AA Change: L246P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216184
AA Change: L246P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216367
AA Change: L246P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,796,921 (GRCm39) noncoding transcript Het
Alpk3 A G 7: 80,742,310 (GRCm39) D709G probably benign Het
Capn3 G T 2: 120,320,189 (GRCm39) R309L probably damaging Het
Card11 T C 5: 140,884,086 (GRCm39) I398V possibly damaging Het
Cps1 T A 1: 67,184,960 (GRCm39) Y162* probably null Het
Defa26 A T 8: 22,108,257 (GRCm39) D20V probably damaging Het
Defa39 T C 8: 22,193,534 (GRCm39) T29A possibly damaging Het
Dnah8 T G 17: 30,960,355 (GRCm39) L2244R probably damaging Het
Fhad1 T A 4: 141,700,191 (GRCm39) N353I possibly damaging Het
Flt1 T A 5: 147,525,331 (GRCm39) probably benign Het
Glyr1 G A 16: 4,866,621 (GRCm39) probably null Het
Gm10220 A G 5: 26,321,899 (GRCm39) S258P possibly damaging Het
Lama3 A T 18: 12,672,760 (GRCm39) D845V probably damaging Het
Myh2 T A 11: 67,084,051 (GRCm39) L1558Q probably damaging Het
Nelfb G T 2: 25,093,207 (GRCm39) H482N probably benign Het
Or5p58 A G 7: 107,694,024 (GRCm39) V251A probably damaging Het
Ppfia2 A G 10: 106,732,368 (GRCm39) T972A possibly damaging Het
Slc5a4a G A 10: 75,986,346 (GRCm39) V85M probably damaging Het
Slc6a12 T G 6: 121,331,246 (GRCm39) C166G probably damaging Het
Tm7sf3 T C 6: 146,507,618 (GRCm39) probably benign Het
Tmem94 G T 11: 115,682,894 (GRCm39) probably benign Het
Tmod2 T C 9: 75,484,540 (GRCm39) probably benign Het
Tmprss11c T A 5: 86,419,341 (GRCm39) I73F probably damaging Het
Vmn1r10 A G 6: 57,090,911 (GRCm39) M168V probably benign Het
Vmn2r77 T A 7: 86,461,131 (GRCm39) M819K probably benign Het
Vmo1 C T 11: 70,405,236 (GRCm39) probably null Het
Ywhab A G 2: 163,855,936 (GRCm39) D104G probably benign Het
Other mutations in Or5ae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Or5ae1 APN 7 84,565,578 (GRCm39) missense probably damaging 0.99
IGL01322:Or5ae1 APN 7 84,565,590 (GRCm39) missense probably damaging 0.99
IGL01834:Or5ae1 APN 7 84,565,860 (GRCm39) missense probably damaging 1.00
IGL02556:Or5ae1 APN 7 84,565,567 (GRCm39) nonsense probably null
IGL03246:Or5ae1 APN 7 84,565,919 (GRCm39) missense probably benign 0.03
R0322:Or5ae1 UTSW 7 84,565,521 (GRCm39) missense probably damaging 1.00
R1253:Or5ae1 UTSW 7 84,565,917 (GRCm39) missense probably benign
R1652:Or5ae1 UTSW 7 84,565,728 (GRCm39) missense probably damaging 1.00
R1673:Or5ae1 UTSW 7 84,565,325 (GRCm39) missense probably damaging 0.97
R1891:Or5ae1 UTSW 7 84,565,461 (GRCm39) missense possibly damaging 0.93
R1895:Or5ae1 UTSW 7 84,565,487 (GRCm39) missense probably benign 0.01
R1946:Or5ae1 UTSW 7 84,565,487 (GRCm39) missense probably benign 0.01
R2128:Or5ae1 UTSW 7 84,565,701 (GRCm39) missense probably damaging 1.00
R4435:Or5ae1 UTSW 7 84,565,229 (GRCm39) missense probably benign 0.45
R4822:Or5ae1 UTSW 7 84,565,634 (GRCm39) missense possibly damaging 0.81
R4834:Or5ae1 UTSW 7 84,565,491 (GRCm39) missense probably damaging 1.00
R5354:Or5ae1 UTSW 7 84,565,357 (GRCm39) nonsense probably null
R5644:Or5ae1 UTSW 7 84,565,327 (GRCm39) missense probably benign 0.15
R5650:Or5ae1 UTSW 7 84,565,626 (GRCm39) missense possibly damaging 0.50
R5708:Or5ae1 UTSW 7 84,565,391 (GRCm39) missense possibly damaging 0.56
R6585:Or5ae1 UTSW 7 84,565,670 (GRCm39) missense probably damaging 0.99
R7774:Or5ae1 UTSW 7 84,565,739 (GRCm39) missense probably damaging 0.97
R8126:Or5ae1 UTSW 7 84,565,114 (GRCm39) missense probably damaging 1.00
R8443:Or5ae1 UTSW 7 84,565,787 (GRCm39) missense probably benign 0.00
R8709:Or5ae1 UTSW 7 84,565,671 (GRCm39) missense probably damaging 1.00
R8729:Or5ae1 UTSW 7 84,565,523 (GRCm39) missense probably damaging 0.99
R8779:Or5ae1 UTSW 7 84,565,397 (GRCm39) missense possibly damaging 0.56
R8810:Or5ae1 UTSW 7 84,565,626 (GRCm39) missense possibly damaging 0.50
Posted On 2016-08-02