Incidental Mutation 'R9640:Or5ae2'
ID 725921
Institutional Source Beutler Lab
Gene Symbol Or5ae2
Ensembl Gene ENSMUSG00000070460
Gene Name olfactory receptor family 5 subfamily AE member 2
Synonyms GA_x6K02T2NHDJ-11231385-11230438, Olfr291, MOR254-2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R9640 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 84502779-84506526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84506114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 181 (C181Y)
Ref Sequence ENSEMBL: ENSMUSP00000148266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000211582] [ENSMUST00000217039]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000211582
AA Change: C181Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217039
AA Change: C179Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T C 16: 14,436,589 (GRCm39) V214A Het
A830018L16Rik A G 1: 12,021,200 (GRCm39) K403R probably damaging Het
Aadacl4fm4 T A 4: 144,412,809 (GRCm39) R44W possibly damaging Het
Abhd17c A T 7: 83,800,814 (GRCm39) L80Q probably damaging Het
Adam30 T A 3: 98,069,620 (GRCm39) D484E probably damaging Het
Aspm T A 1: 139,408,010 (GRCm39) V2299E possibly damaging Het
Atp6v1c1 C T 15: 38,689,381 (GRCm39) R281W probably damaging Het
Bclaf1 T C 10: 20,201,553 (GRCm39) probably null Het
Ccdc50 T C 16: 27,225,461 (GRCm39) V58A probably damaging Het
Cep162 A G 9: 87,126,352 (GRCm39) S187P probably benign Het
Clip4 C T 17: 72,163,264 (GRCm39) T612M possibly damaging Het
Corin C T 5: 72,592,597 (GRCm39) V267I probably benign Het
Cyp2c37 T A 19: 40,000,180 (GRCm39) I434K probably benign Het
Ddx43 T G 9: 78,303,389 (GRCm39) D76E probably benign Het
Dusp5 A G 19: 53,526,051 (GRCm39) E231G probably damaging Het
Fam114a1 G A 5: 65,166,394 (GRCm39) V242I probably damaging Het
Frem1 T A 4: 82,831,896 (GRCm39) R1973S probably benign Het
Gas2l3 A T 10: 89,266,774 (GRCm39) D55E probably damaging Het
Grwd1 T C 7: 45,477,303 (GRCm39) I195V probably benign Het
H2-M1 G T 17: 36,983,031 (GRCm39) T20K probably benign Het
H2-Q2 T G 17: 35,562,206 (GRCm39) L151R probably damaging Het
Hbegf T C 18: 36,640,643 (GRCm39) Y138C probably damaging Het
Hectd1 C A 12: 51,795,197 (GRCm39) E2411* probably null Het
Igkv11-125 T A 6: 67,890,783 (GRCm39) S34T possibly damaging Het
Jam2 A T 16: 84,609,960 (GRCm39) T191S probably benign Het
Kcnh8 T C 17: 53,185,089 (GRCm39) I457T probably damaging Het
Khk A G 5: 31,079,303 (GRCm39) D15G probably damaging Het
Lrba T A 3: 86,526,875 (GRCm39) Y2244* probably null Het
Lrp1b T C 2: 41,078,929 (GRCm39) N1841S Het
Lrp4 A G 2: 91,316,296 (GRCm39) T805A probably benign Het
Lrp6 C T 6: 134,441,414 (GRCm39) R1184Q probably damaging Het
Map3k1 A T 13: 111,900,699 (GRCm39) L442* probably null Het
Mapk8ip3 T C 17: 25,155,647 (GRCm39) N61S possibly damaging Het
Matcap2 A T 9: 22,351,228 (GRCm39) I457L possibly damaging Het
Mdn1 T A 4: 32,754,539 (GRCm39) V4685E probably damaging Het
Mib2 T C 4: 155,745,325 (GRCm39) E134G possibly damaging Het
Mtss2 T C 8: 111,464,575 (GRCm39) V403A probably benign Het
Ndst4 C A 3: 125,232,196 (GRCm39) T255K probably damaging Het
Or1i2 G C 10: 78,448,311 (GRCm39) L55V probably damaging Het
Or2l13 A T 16: 19,305,761 (GRCm39) M58L probably damaging Het
Or8g20 A G 9: 39,396,396 (GRCm39) L51P probably damaging Het
Pak1 T A 7: 97,515,355 (GRCm39) D126E probably benign Het
Rgl1 T C 1: 152,397,142 (GRCm39) T675A probably damaging Het
Rgs1 T C 1: 144,121,116 (GRCm39) D185G probably damaging Het
Rnase2a G A 14: 51,493,117 (GRCm39) R83C probably damaging Het
Sfmbt2 A G 2: 10,583,994 (GRCm39) T784A probably damaging Het
Slc6a21 A T 7: 44,937,189 (GRCm39) T272S Het
Sorcs2 G T 5: 36,222,765 (GRCm39) S330* probably null Het
Spdef G T 17: 27,936,183 (GRCm39) H253Q Het
Tas2r144 A G 6: 42,192,428 (GRCm39) E56G probably benign Het
Trim66 A G 7: 109,074,825 (GRCm39) C479R probably damaging Het
Ttc36 A T 9: 44,714,034 (GRCm39) L28Q probably benign Het
Ugt1a5 T C 1: 88,094,098 (GRCm39) S109P possibly damaging Het
Vamp5 G A 6: 72,347,276 (GRCm39) probably benign Het
Wwox A G 8: 115,166,540 (GRCm39) D10G possibly damaging Het
Zfp40 T C 17: 23,394,493 (GRCm39) Y698C probably damaging Het
Zfp62 A G 11: 49,106,458 (GRCm39) D183G probably benign Het
Zfp932 T C 5: 110,157,064 (GRCm39) V254A probably benign Het
Zfp943 T A 17: 22,209,899 (GRCm39) L57H probably damaging Het
Other mutations in Or5ae2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Or5ae2 APN 7 84,505,619 (GRCm39) missense probably damaging 1.00
IGL02643:Or5ae2 APN 7 84,506,239 (GRCm39) missense probably damaging 1.00
IGL02928:Or5ae2 APN 7 84,506,273 (GRCm39) missense probably benign 0.08
IGL03124:Or5ae2 APN 7 84,505,931 (GRCm39) missense probably damaging 0.99
R0129:Or5ae2 UTSW 7 84,506,196 (GRCm39) missense probably benign
R0605:Or5ae2 UTSW 7 84,506,345 (GRCm39) missense probably damaging 1.00
R1085:Or5ae2 UTSW 7 84,505,987 (GRCm39) missense probably benign 0.05
R1477:Or5ae2 UTSW 7 84,506,225 (GRCm39) missense probably damaging 1.00
R1834:Or5ae2 UTSW 7 84,505,690 (GRCm39) missense probably damaging 0.99
R1839:Or5ae2 UTSW 7 84,505,756 (GRCm39) missense probably damaging 1.00
R2036:Or5ae2 UTSW 7 84,505,566 (GRCm39) start gained probably benign
R4214:Or5ae2 UTSW 7 84,506,497 (GRCm39) missense probably benign
R4386:Or5ae2 UTSW 7 84,505,756 (GRCm39) missense probably damaging 1.00
R4679:Or5ae2 UTSW 7 84,506,112 (GRCm39) nonsense probably null
R4789:Or5ae2 UTSW 7 84,506,509 (GRCm39) missense probably benign 0.09
R4841:Or5ae2 UTSW 7 84,506,328 (GRCm39) missense probably damaging 1.00
R5011:Or5ae2 UTSW 7 84,505,646 (GRCm39) missense probably damaging 1.00
R5013:Or5ae2 UTSW 7 84,505,646 (GRCm39) missense probably damaging 1.00
R6127:Or5ae2 UTSW 7 84,506,410 (GRCm39) missense probably damaging 1.00
R7164:Or5ae2 UTSW 7 84,506,251 (GRCm39) missense possibly damaging 0.73
R7328:Or5ae2 UTSW 7 84,506,507 (GRCm39) missense probably benign 0.01
R8347:Or5ae2 UTSW 7 84,505,963 (GRCm39) missense probably damaging 0.99
R8434:Or5ae2 UTSW 7 84,506,497 (GRCm39) missense probably benign
R8882:Or5ae2 UTSW 7 84,505,681 (GRCm39) missense probably damaging 1.00
R9242:Or5ae2 UTSW 7 84,506,086 (GRCm39) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-09-12