Incidental Mutation 'R8443:Or5ae1'
ID 654301
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 067825-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R8443 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 84564989-84565936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84565787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 267 (H267Y)
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 benign
Transcript: ENSMUST00000073468
AA Change: H267Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: H267Y

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 benign
Transcript: ENSMUST00000214501
AA Change: H267Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216184
AA Change: H267Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216367
AA Change: H267Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 45,629,449 (GRCm39) V1293M probably damaging Het
Agt A G 8: 125,290,537 (GRCm39) W257R possibly damaging Het
Arhgef11 T A 3: 87,620,406 (GRCm39) N457K probably benign Het
Bcl3 G T 7: 19,554,082 (GRCm39) H95Q probably benign Het
C1d T A 11: 17,213,662 (GRCm39) N64K probably damaging Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cd300c2 C T 11: 114,891,466 (GRCm39) S136N probably benign Het
Cdh8 A G 8: 99,757,672 (GRCm39) V642A possibly damaging Het
Cep290 A T 10: 100,331,706 (GRCm39) I180F possibly damaging Het
Copz2 A G 11: 96,744,887 (GRCm39) E86G probably damaging Het
Cplane1 A G 15: 8,230,635 (GRCm39) I971V probably benign Het
Cracdl A G 1: 37,652,537 (GRCm39) V1090A probably benign Het
Csf3r A T 4: 125,923,712 (GRCm39) D74V possibly damaging Het
Cyp11b1 T G 15: 74,710,789 (GRCm39) E257A possibly damaging Het
Dlg2 A G 7: 92,024,875 (GRCm39) Q580R probably damaging Het
Dnai2 A T 11: 114,645,275 (GRCm39) K570M unknown Het
Dock8 A G 19: 25,133,281 (GRCm39) K1143E probably benign Het
Dxo T C 17: 35,058,099 (GRCm39) S394P probably benign Het
Etl4 A G 2: 20,810,977 (GRCm39) D1388G probably benign Het
F13a1 C A 13: 37,209,692 (GRCm39) R91L probably damaging Het
Fam50b C T 13: 34,930,856 (GRCm39) R111* probably null Het
Fat2 T G 11: 55,202,535 (GRCm39) N180H probably damaging Het
Fitm2 A T 2: 163,311,768 (GRCm39) H148Q probably benign Het
Fjx1 A T 2: 102,281,156 (GRCm39) S260T possibly damaging Het
Fos T C 12: 85,522,466 (GRCm39) L165P probably damaging Het
Gm39115 C A 7: 141,689,710 (GRCm39) C21F unknown Het
Gucy1a1 C T 3: 82,005,000 (GRCm39) C595Y probably damaging Het
Hectd4 G T 5: 121,467,172 (GRCm39) W2478L possibly damaging Het
I830077J02Rik T A 3: 105,836,060 (GRCm39) K9N probably damaging Het
Ift70a1 T C 2: 75,811,519 (GRCm39) D188G probably benign Het
Ireb2 T C 9: 54,811,265 (GRCm39) F723L possibly damaging Het
Itpr1 G A 6: 108,496,309 (GRCm39) V2580I probably damaging Het
Kcnu1 G A 8: 26,382,092 (GRCm39) G481R probably damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Klra8 A G 6: 130,105,056 (GRCm39) V23A probably damaging Het
Lig4 A G 8: 10,023,777 (GRCm39) M1T probably null Het
Lpin3 C T 2: 160,737,273 (GRCm39) P107S probably damaging Het
Lrp1b T A 2: 41,265,867 (GRCm39) K1100* probably null Het
Obscn G A 11: 58,929,700 (GRCm39) H5172Y probably damaging Het
Or10a3m T A 7: 108,313,418 (GRCm39) M286K possibly damaging Het
Or4p20 A G 2: 88,253,745 (GRCm39) I208T probably benign Het
Or6z1 T A 7: 6,504,734 (GRCm39) T170S probably damaging Het
Or8c14-ps1 A T 9: 38,101,498 (GRCm39) H159L possibly damaging Het
Orc3 A G 4: 34,593,173 (GRCm39) L298P probably damaging Het
Otub1 A G 19: 7,177,360 (GRCm39) F96L probably damaging Het
Pcnx3 A G 19: 5,736,670 (GRCm39) S156P probably benign Het
Pde3b A G 7: 114,126,129 (GRCm39) M788V probably damaging Het
Pias4 A G 10: 80,992,844 (GRCm39) probably null Het
Polg A G 7: 79,114,743 (GRCm39) C73R probably benign Het
Ptbp2 T C 3: 119,541,467 (GRCm39) Y190C probably damaging Het
Rab33b T A 3: 51,401,050 (GRCm39) F175I probably damaging Het
Rfx1 A G 8: 84,806,515 (GRCm39) T108A probably benign Het
Ribc2 A G 15: 85,019,461 (GRCm39) D81G probably benign Het
Rnf213 T G 11: 119,340,149 (GRCm39) M3460R Het
Rsf1 T A 7: 97,266,103 (GRCm39) S86T Het
Rxfp2 C A 5: 149,973,068 (GRCm39) T181N possibly damaging Het
Samm50 G A 15: 84,094,702 (GRCm39) E365K possibly damaging Het
Shld2 A C 14: 33,989,942 (GRCm39) N321K probably benign Het
Slc22a18 T C 7: 143,051,123 (GRCm39) V334A probably damaging Het
Slc23a3 A T 1: 75,110,085 (GRCm39) C97S probably benign Het
Smchd1 T A 17: 71,714,244 (GRCm39) H873L probably benign Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Sphkap T A 1: 83,255,953 (GRCm39) I599F probably benign Het
Stox1 A G 10: 62,501,543 (GRCm39) V339A probably damaging Het
Tlx1 A G 19: 45,142,036 (GRCm39) E220G probably damaging Het
Tmem71 C A 15: 66,413,421 (GRCm39) probably null Het
Tmprss3 T C 17: 31,413,976 (GRCm39) D56G possibly damaging Het
Trabd A G 15: 88,970,107 (GRCm39) R368G probably benign Het
Trf A G 9: 103,094,675 (GRCm39) I461T probably damaging Het
Trpm3 A G 19: 22,676,226 (GRCm39) T133A possibly damaging Het
Trpv3 G A 11: 73,186,209 (GRCm39) V667I possibly damaging Het
Vps13b T A 15: 35,455,246 (GRCm39) N718K probably benign Het
Zdbf2 T C 1: 63,345,166 (GRCm39) S1182P possibly damaging Het
Zfp13 T C 17: 23,795,866 (GRCm39) D235G probably benign Het
Zfp407 T C 18: 84,227,987 (GRCm39) E1874G probably damaging Het
Zfp503 T C 14: 22,036,277 (GRCm39) K213R probably benign Het
Zkscan2 A G 7: 123,084,651 (GRCm39) V491A 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
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'- TCATCTACCTATATGGCAGAAATGC -3'
(R):5'- TAGCTTGAGAAGTCTTGCATCA -3'

Sequencing Primer
(F):5'- GCAGAAATGCTTGTTTTAGTGATAG -3'
(R):5'- CATTCTCTCTGTGAACATATCCGAAG -3'
Posted On 2020-10-20