Incidental Mutation 'R0322:Or5ae1'
ID 25615
Institutional Source Beutler Lab
Gene Symbol Or5ae1
Ensembl Gene ENSMUSG00000116179
Gene Name olfactory receptor family 5 subfamily AE member 1
Synonyms Olfr290, GA_x6K02T2NHDJ-11170115-11169168, MOR254-1
MMRRC Submission 038532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R0322 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 84564989-84565936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84565521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 178 (Y178C)
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 probably damaging
Transcript: ENSMUST00000073468
AA Change: Y178C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: Y178C

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 probably damaging
Transcript: ENSMUST00000214501
AA Change: Y178C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216184
AA Change: Y178C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216367
AA Change: Y178C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.8%
  • 20x: 84.3%
Validation Efficiency 98% (58/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,888,768 (GRCm39) S275T possibly damaging Het
Adam34 G T 8: 44,104,958 (GRCm39) T229N probably benign Het
Adgrb3 C A 1: 25,260,829 (GRCm39) probably benign Het
Ankhd1 T A 18: 36,791,061 (GRCm39) Y2478* probably null Het
Arl9 A G 5: 77,155,037 (GRCm39) probably benign Het
Bub1b G A 2: 118,470,099 (GRCm39) probably benign Het
Chl1 A T 6: 103,678,844 (GRCm39) probably benign Het
Cobl T A 11: 12,217,072 (GRCm39) E465V probably damaging Het
Cobll1 A T 2: 64,932,442 (GRCm39) M520K possibly damaging Het
Dll3 A G 7: 27,995,793 (GRCm39) V336A possibly damaging Het
Dnmbp T C 19: 43,843,285 (GRCm39) H1193R probably damaging Het
Fbxo43 T C 15: 36,152,338 (GRCm39) probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gjc3 A T 5: 137,955,760 (GRCm39) M175K possibly damaging Het
Gpc5 T A 14: 115,636,563 (GRCm39) N415K probably benign Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Il7r A T 15: 9,510,301 (GRCm39) F251I probably benign Het
Insc A G 7: 114,391,500 (GRCm39) E141G probably damaging Het
Itm2c C T 1: 85,834,751 (GRCm39) T160M probably damaging Het
Mboat1 T C 13: 30,416,063 (GRCm39) probably benign Het
Mdm2 G T 10: 117,538,109 (GRCm39) H96Q possibly damaging Het
Mettl13 A G 1: 162,371,745 (GRCm39) probably benign Het
Mfsd4b3-ps T C 10: 39,823,526 (GRCm39) N245D probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Mymk A T 2: 26,957,418 (GRCm39) L66Q probably damaging Het
Myo18a T C 11: 77,720,626 (GRCm39) S767P probably damaging Het
Ndufa8 T C 2: 35,926,634 (GRCm39) D134G probably benign Het
Noxa1 A G 2: 24,982,566 (GRCm39) F83S probably damaging Het
Npc1l1 T A 11: 6,179,042 (GRCm39) I123L probably benign Het
Ogdhl A G 14: 32,059,534 (GRCm39) T394A probably benign Het
Or4s2b T C 2: 88,509,011 (GRCm39) S264P probably damaging Het
Pcdh20 T C 14: 88,706,383 (GRCm39) T306A probably benign Het
Pcid2 G A 8: 13,140,775 (GRCm39) probably benign Het
Phyhip G A 14: 70,700,836 (GRCm39) V108M possibly damaging Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Psmb4 A G 3: 94,793,402 (GRCm39) Y160H probably benign Het
Riox2 A T 16: 59,309,752 (GRCm39) K369* probably null Het
Rnf26rt T C 6: 76,473,401 (GRCm39) Y405C probably benign Het
Sh3tc1 G A 5: 35,863,905 (GRCm39) P761S possibly damaging Het
Slc6a3 T A 13: 73,709,045 (GRCm39) V323D possibly damaging Het
Smg7 A G 1: 152,725,624 (GRCm39) probably null Het
Srrt G A 5: 137,294,870 (GRCm39) R370C probably damaging Het
Stc1 T C 14: 69,266,858 (GRCm39) V7A probably benign Het
Svep1 G T 4: 58,057,996 (GRCm39) probably benign Het
Tbpl2 A G 2: 23,984,991 (GRCm39) V51A probably benign Het
Tecr A G 8: 84,298,872 (GRCm39) Y248H probably damaging Het
Tenm3 A G 8: 48,689,947 (GRCm39) probably benign Het
Tia1 C T 6: 86,397,369 (GRCm39) A114V probably damaging Het
Tmprss11f A T 5: 86,739,275 (GRCm39) M2K probably benign Het
Tnfsf8 T C 4: 63,752,403 (GRCm39) T221A probably damaging Het
Tubgcp5 G A 7: 55,464,726 (GRCm39) G536S probably damaging Het
Tyr A T 7: 87,142,125 (GRCm39) I145N probably benign Het
Ubr4 T A 4: 139,149,729 (GRCm39) V1809E probably damaging Het
Vmn2r65 A T 7: 84,595,756 (GRCm39) N309K 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
IGL03255:Or5ae1 APN 7 84,565,725 (GRCm39) missense possibly damaging 0.95
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
Predicted Primers PCR Primer
(F):5'- CTTACTGGACATATTCTGCCCATCAGC -3'
(R):5'- ACCGGATCTTTAGGATGGTGGAGAC -3'

Sequencing Primer
(F):5'- TCTTGACTGAGGATCACAGC -3'
(R):5'- CAGAGTGATCAGAAAAGCACC -3'
Posted On 2013-04-16