Incidental Mutation 'R7774:Or5ae1'
ID 598765
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 045830-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R7774 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 84564989-84565936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84565739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 251 (F251I)
Ref Sequence ENSEMBL: ENSMUSP00000149411 (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: F251I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: F251I

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 probably damaging
Transcript: ENSMUST00000214501
AA Change: F251I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000216184
AA Change: F251I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000216367
AA Change: F251I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 G T 15: 98,494,414 (GRCm39) T809N probably benign Het
Adgb C A 10: 10,215,404 (GRCm39) E1561* probably null Het
Adgra1 A T 7: 139,427,628 (GRCm39) H65L possibly damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Atrnl1 G T 19: 57,688,103 (GRCm39) G856V probably damaging Het
Cc2d2b A G 19: 40,754,161 (GRCm39) K177E unknown Het
Ccdc122 T C 14: 77,305,379 (GRCm39) V11A probably benign Het
Clasp2 T A 9: 113,677,804 (GRCm39) probably null Het
Col6a1 T C 10: 76,545,710 (GRCm39) T921A unknown Het
Cul3 A C 1: 80,247,011 (GRCm39) D697E probably benign Het
Defa34 G A 8: 22,155,978 (GRCm39) E56K probably benign Het
Dhrs7c A G 11: 67,700,641 (GRCm39) R63G probably damaging Het
Dnaaf11 T G 15: 66,321,401 (GRCm39) I247L probably benign Het
Dnah3 T A 7: 119,550,975 (GRCm39) K136* probably null Het
Exoc7 T C 11: 116,186,142 (GRCm39) D353G possibly damaging Het
Fbxw21 T C 9: 108,972,908 (GRCm39) Y342C probably benign Het
Fitm2 T A 2: 163,311,986 (GRCm39) I76F probably damaging Het
Fryl A T 5: 73,240,727 (GRCm39) I1291N probably benign Het
Fzd2 A T 11: 102,496,314 (GRCm39) I253F possibly damaging Het
Gm5592 A T 7: 40,939,283 (GRCm39) Y855F probably damaging Het
H1f6 A G 13: 23,880,183 (GRCm39) K112R possibly damaging Het
H4c16 G T 6: 136,781,281 (GRCm39) P33T possibly damaging Het
Helz2 T C 2: 180,875,784 (GRCm39) Y1570C probably benign Het
Ints11 A G 4: 155,970,140 (GRCm39) T228A probably benign Het
Ipo13 G T 4: 117,771,494 (GRCm39) N25K probably benign Het
Itga9 T A 9: 118,700,968 (GRCm39) I917N probably damaging Het
Krt39 T C 11: 99,405,437 (GRCm39) probably null Het
Krtap13-1 C T 16: 88,526,061 (GRCm39) T95I possibly damaging Het
Ldlrad4 G T 18: 68,368,863 (GRCm39) E107* probably null Het
Ly6a A T 15: 74,869,416 (GRCm39) I13N probably damaging Het
Mfsd4b4 T C 10: 39,768,407 (GRCm39) T275A probably benign Het
Mgat3 C T 15: 80,095,743 (GRCm39) T190M probably damaging Het
Muc5b G A 7: 141,396,116 (GRCm39) R124H unknown Het
Mucl1 G T 15: 103,783,950 (GRCm39) N85K possibly damaging Het
Nifk G A 1: 118,255,391 (GRCm39) E96K possibly damaging Het
Opn3 C T 1: 175,490,471 (GRCm39) V397M probably damaging Het
Or52ad1 T C 7: 102,995,737 (GRCm39) R133G possibly damaging Het
Or8c17 T C 9: 38,180,655 (GRCm39) V274A probably damaging Het
Pcdha2 A G 18: 37,074,579 (GRCm39) M737V probably benign Het
Pdk4 T A 6: 5,492,757 (GRCm39) D98V possibly damaging Het
Pkhd1l1 A G 15: 44,404,303 (GRCm39) T2311A probably benign Het
Pla2r1 A T 2: 60,360,802 (GRCm39) C195* probably null Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Pramel23 C T 4: 143,423,676 (GRCm39) S371N possibly damaging Het
Ptprq T C 10: 107,479,530 (GRCm39) T1166A probably damaging Het
Ran G A 5: 129,099,874 (GRCm39) D215N probably benign Het
Rb1cc1 T C 1: 6,318,309 (GRCm39) F604L possibly damaging Het
Rgl1 T A 1: 152,430,101 (GRCm39) E227D probably benign Het
Sec24b C A 3: 129,777,846 (GRCm39) R1204L possibly damaging Het
Shroom3 T C 5: 93,098,348 (GRCm39) L1276P probably damaging Het
Smarcad1 T A 6: 65,084,814 (GRCm39) M820K probably damaging Het
Sptbn1 A T 11: 30,092,142 (GRCm39) M541K probably damaging Het
Tcp11l2 T C 10: 84,440,847 (GRCm39) V351A possibly damaging Het
Tecpr2 A G 12: 110,899,606 (GRCm39) D658G probably benign Het
Tlr6 T G 5: 65,110,728 (GRCm39) E726D probably damaging Het
Tmem218 T A 9: 37,133,864 (GRCm39) H101Q probably benign Het
Tnfrsf4 C T 4: 156,098,795 (GRCm39) Q82* probably null Het
Trpm7 A G 2: 126,655,158 (GRCm39) V1260A probably benign Het
Trpm8 A T 1: 88,258,563 (GRCm39) E282V probably damaging Het
Tuba8 T C 6: 121,200,348 (GRCm39) V344A probably damaging Het
Tvp23a A G 16: 10,245,245 (GRCm39) probably null Het
Zfp174 G A 16: 3,667,215 (GRCm39) V135M probably damaging Het
Zfp418 G A 7: 7,185,776 (GRCm39) V580I possibly damaging Het
Zfp451 T A 1: 33,844,474 (GRCm39) E44D probably benign Het
Zfp521 T C 18: 13,978,838 (GRCm39) D525G 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
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
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'- CTCATCTACCTATATGGCAGAAATGC -3'
(R):5'- AGCTTGAGAAGTCTTGCATCATTC -3'

Sequencing Primer
(F):5'- GCAGAAATGCTTGTTTTAGTGATAG -3'
(R):5'- CTCTCTGTGAACATATCCGAAGATG -3'
Posted On 2019-11-26