Incidental Mutation 'R8709:Or5ae1'
ID 669438
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 068563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R8709 (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 84565671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 228 (I228N)
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: I228N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: I228N

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: I228N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216184
AA Change: I228N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216367
AA Change: I228N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (55/57)
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
3100002H09Rik A G 4: 124,504,316 (GRCm39) S79P unknown Het
Aadacl4fm2 C G 4: 144,281,863 (GRCm39) A310P probably damaging Het
Adamts20 T A 15: 94,238,947 (GRCm39) D757V probably damaging Het
Adamts9 C T 6: 92,784,144 (GRCm39) G1570D probably damaging Het
Adamtsl3 A G 7: 82,077,642 (GRCm39) Y109C possibly damaging Het
Agl G A 3: 116,566,121 (GRCm39) R335C Het
Ankfy1 C A 11: 72,646,532 (GRCm39) T805K possibly damaging Het
Cast A T 13: 74,892,780 (GRCm39) V96E probably damaging Het
Cdh17 G T 4: 11,795,685 (GRCm39) E422* probably null Het
Cox4i1 T A 8: 121,396,110 (GRCm39) L21H possibly damaging Het
Cwc22 T C 2: 77,726,694 (GRCm39) E795G probably benign Het
Cwf19l2 C A 9: 3,430,723 (GRCm39) Q352K probably benign Het
Cyp2d9 T C 15: 82,339,276 (GRCm39) V226A probably benign Het
Dnah12 A G 14: 26,414,757 (GRCm39) I53V probably benign Het
Dnah7a T C 1: 53,674,476 (GRCm39) I434V probably benign Het
Dock8 C T 19: 25,055,448 (GRCm39) Q137* probably null Het
Eif4b T G 15: 102,002,116 (GRCm39) V515G unknown Het
Far2 T A 6: 148,067,133 (GRCm39) N339K probably benign Het
Gpr22 T C 12: 31,759,829 (GRCm39) T98A probably damaging Het
Hamp2 A G 7: 30,621,974 (GRCm39) C72R probably damaging Het
Hmgn1 G A 16: 95,928,540 (GRCm39) P16S possibly damaging Het
Hspd1 A G 1: 55,120,922 (GRCm39) S256P probably benign Het
Iqcn T C 8: 71,162,372 (GRCm39) C522R possibly damaging Het
Iqgap2 T C 13: 95,796,713 (GRCm39) H1147R probably damaging Het
Itgb1 T A 8: 129,439,887 (GRCm39) probably benign Het
Klhl29 A T 12: 5,140,681 (GRCm39) W654R probably damaging Het
Krtap22-2 T A 16: 88,807,514 (GRCm39) Y28F unknown Het
Lcp2 T A 11: 34,004,354 (GRCm39) probably benign Het
Muc5ac T G 7: 141,370,663 (GRCm39) L3225R possibly damaging Het
Myom3 A G 4: 135,523,607 (GRCm39) E908G possibly damaging Het
Nup54 A G 5: 92,570,267 (GRCm39) probably benign Het
Or1p1 T A 11: 74,180,054 (GRCm39) I194N possibly damaging Het
Or4a74 C T 2: 89,440,366 (GRCm39) V27I probably benign Het
Or51af1 T C 7: 103,141,519 (GRCm39) T189A probably benign Het
Pak4 A C 7: 28,261,969 (GRCm39) D453E probably benign Het
Pkd1l1 T C 11: 8,805,567 (GRCm39) T2120A Het
Pkhd1l1 T A 15: 44,381,570 (GRCm39) S1099T probably benign Het
Pld2 C T 11: 70,444,275 (GRCm39) R524W probably damaging Het
Polr1a T A 6: 71,951,832 (GRCm39) D1466E probably benign Het
Pxdn C T 12: 30,056,601 (GRCm39) L1271F probably damaging Het
Rp1l1 A C 14: 64,269,295 (GRCm39) D1627A probably damaging Het
Sephs1 T C 2: 4,889,402 (GRCm39) V60A probably benign Het
Sipa1 C T 19: 5,710,980 (GRCm39) R10Q probably damaging Het
Sp4 T C 12: 118,263,189 (GRCm39) T286A possibly damaging Het
Spag5 T A 11: 78,192,738 (GRCm39) S23R probably benign Het
Spag9 T A 11: 93,958,916 (GRCm39) N313K probably benign Het
Stag1 T A 9: 100,772,975 (GRCm39) probably benign Het
Stkld1 T A 2: 26,835,817 (GRCm39) H217Q probably benign Het
Stxbp2 T A 8: 3,683,914 (GRCm39) F104I possibly damaging Het
Tcf12 A G 9: 71,765,787 (GRCm39) V575A possibly damaging Het
Tcf12 A T 9: 71,830,069 (GRCm39) S131T probably benign Het
Tg T A 15: 66,553,786 (GRCm39) S400R probably benign Het
Tomm40 T C 7: 19,444,703 (GRCm39) T200A possibly damaging Het
Trio T C 15: 27,919,323 (GRCm39) E71G unknown Het
Zfp292 A T 4: 34,805,982 (GRCm39) V2359E probably 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
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
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'- GCAGCTGGGTTTCTGAACTC -3'
(R):5'- GGGAGTAATGACCCCATACAAC -3'

Sequencing Primer
(F):5'- GAACTCCTTTGTCCACACAATG -3'
(R):5'- CATAGAGATGAGTCTGTCTCTACCAG -3'
Posted On 2021-04-30