Incidental Mutation 'R5650:Or5ae1'
ID 441365
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 043296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R5650 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 84564989-84565936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84565626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 213 (I213N)
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: I213N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: I213N

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: I213N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216184
AA Change: I213N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216367
AA Change: I213N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 96.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,597,253 (GRCm39) L693P probably damaging Het
Ankrd11 T C 8: 123,614,136 (GRCm39) T2524A probably damaging Het
Cdr2 A G 7: 120,557,559 (GRCm39) I322T probably damaging Het
Cep76 A T 18: 67,758,136 (GRCm39) C385S probably damaging Het
Cercam C T 2: 29,771,827 (GRCm39) S549F probably damaging Het
Coro1b C T 19: 4,200,610 (GRCm39) T209I possibly damaging Het
Dlec1 G T 9: 118,972,662 (GRCm39) E1462* probably null Het
Dlgap5 C T 14: 47,649,196 (GRCm39) G166D probably benign Het
Ep400 C T 5: 110,843,818 (GRCm39) probably null Het
Fam3d A T 14: 8,357,142 (GRCm38) V96E probably damaging Het
Fgr T G 4: 132,727,533 (GRCm39) V478G probably benign Het
Fmo9 T A 1: 166,491,015 (GRCm39) I437F probably damaging Het
Gabrd A T 4: 155,473,081 (GRCm39) V64E probably damaging Het
Gsap A G 5: 21,456,051 (GRCm39) Y385C probably damaging Het
H4c4 A T 13: 23,765,778 (GRCm39) N65I possibly damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Helz T A 11: 107,485,972 (GRCm39) M127K probably null Het
Hsp90b1 G A 10: 86,529,367 (GRCm39) A310V probably damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Kif7 C T 7: 79,360,727 (GRCm39) R216H probably damaging Het
Klhl33 A G 14: 51,129,285 (GRCm39) I648T probably benign Het
Knl1 T A 2: 118,912,031 (GRCm39) L1716* probably null Het
Lgals9 T A 11: 78,863,980 (GRCm39) N55I probably damaging Het
Lmo7 A T 14: 102,136,110 (GRCm39) T606S probably damaging Het
Mdn1 A G 4: 32,667,467 (GRCm39) probably null Het
Mip A T 10: 128,061,934 (GRCm39) I62F possibly damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Npepl1 T C 2: 173,963,329 (GRCm39) F454L possibly damaging Het
Or10h28 A T 17: 33,487,858 (GRCm39) E53D probably benign Het
Or1j21 T A 2: 36,683,277 (GRCm39) S10T probably benign Het
Or8b1b A T 9: 38,376,023 (GRCm39) K229* probably null Het
Oxct1 T A 15: 4,172,332 (GRCm39) V466D probably damaging Het
Piezo2 T A 18: 63,144,792 (GRCm39) I2768F probably damaging Het
Pitpnm1 C A 19: 4,153,319 (GRCm39) D158E possibly damaging Het
Plekho2 T C 9: 65,464,018 (GRCm39) N277S probably benign Het
Rab33b T C 3: 51,400,837 (GRCm39) Y104H probably damaging Het
Rpap1 T C 2: 119,604,331 (GRCm39) S473G probably benign Het
Serpina1b T A 12: 103,694,694 (GRCm39) probably null Het
Slc25a17 A T 15: 81,213,377 (GRCm39) probably null Het
Slc43a2 T C 11: 75,436,633 (GRCm39) C160R probably damaging Het
Slc7a4 G T 16: 17,393,548 (GRCm39) L84M possibly damaging Het
Slco1a4 T A 6: 141,755,120 (GRCm39) I561F possibly damaging Het
Sowahc GGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGA 10: 59,059,313 (GRCm39) probably benign Het
Specc1 T C 11: 62,008,793 (GRCm39) I183T probably damaging Het
Sucla2 A G 14: 73,828,569 (GRCm39) K362E probably benign Het
Tcf12 A T 9: 71,792,584 (GRCm39) probably null Het
Tlr11 C T 14: 50,598,658 (GRCm39) P215S probably benign Het
Tmem41b A G 7: 109,574,072 (GRCm39) S198P probably damaging Het
Tubgcp3 A G 8: 12,698,670 (GRCm39) F427S probably damaging Het
Wdr81 T A 11: 75,335,574 (GRCm39) S1752C probably damaging Het
Zbtb7a A G 10: 80,980,883 (GRCm39) Y359C probably damaging Het
Zfp37 T C 4: 62,110,002 (GRCm39) Y354C probably damaging Het
Zmpste24 T A 4: 120,940,074 (GRCm39) I191F possibly damaging 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
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
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'- TGACCAAGGTTCGCTGTGTG -3'
(R):5'- ACCAGGAGAGTGTTGACTGG -3'

Sequencing Primer
(F):5'- GCAGCTGGGTTTCTGAACTCC -3'
(R):5'- CTGGAGGTTGGGCGAATATAG -3'
Posted On 2016-11-08