Incidental Mutation 'R2036:Or5ae2'
ID 224644
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 040043-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2036 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 84502779-84506526 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 84505566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000211582] [ENSMUST00000217039]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000077303
Gene: ENSMUSG00000070460

Pfam:7tm_4 33 311 3e-54 PFAM
Pfam:7TM_GPCR_Srsx 37 270 1.5e-10 PFAM
Pfam:7tm_1 43 293 1.9e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211582
Predicted Effect probably benign
Transcript: ENSMUST00000217039
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415H17Rik C T 11: 99,576,358 (GRCm39) C3Y unknown Het
Abr G T 11: 76,343,176 (GRCm39) T547K probably benign Het
Akr1c21 T C 13: 4,626,305 (GRCm39) Y110H probably damaging Het
Ankar T A 1: 72,705,689 (GRCm39) K556* probably null Het
Anks1b T C 10: 90,805,715 (GRCm39) V431A probably damaging Het
Ap5b1 T C 19: 5,618,897 (GRCm39) S106P possibly damaging Het
Arhgap17 T C 7: 122,917,717 (GRCm39) N156D possibly damaging Het
Arhgap35 T C 7: 16,297,058 (GRCm39) E669G probably damaging Het
Arhgap44 T C 11: 64,932,318 (GRCm39) M201V possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg4c C T 4: 99,106,376 (GRCm39) T112M possibly damaging Het
Bcl11a A T 11: 24,114,087 (GRCm39) N477Y possibly damaging Het
Brinp3 A T 1: 146,577,579 (GRCm39) I205F possibly damaging Het
Capza2 T C 6: 17,660,777 (GRCm39) F159S probably damaging Het
Cd40 T C 2: 164,904,221 (GRCm39) C61R probably benign Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cdh23 A G 10: 60,301,822 (GRCm39) I415T possibly damaging Het
Clnk A T 5: 38,910,143 (GRCm39) probably null Het
Ctcfl C T 2: 172,943,778 (GRCm39) R524Q possibly damaging Het
Cyb5r4 T G 9: 86,924,932 (GRCm39) probably benign Het
Ddb1 T A 19: 10,588,186 (GRCm39) probably benign Het
Ddx51 C A 5: 110,804,491 (GRCm39) Q526K probably benign Het
Dennd6a A T 14: 26,329,274 (GRCm39) Q56L probably damaging Het
Dhdds T C 4: 133,698,410 (GRCm39) E142G probably damaging Het
Dnai1 A G 4: 41,632,225 (GRCm39) H553R probably damaging Het
Fryl T C 5: 73,179,887 (GRCm39) N2908S probably benign Het
Fryl C A 5: 73,265,305 (GRCm39) probably null Het
Fut9 A G 4: 25,620,322 (GRCm39) I164T probably damaging Het
Gba2 G A 4: 43,568,118 (GRCm39) probably benign Het
Gm11627 C T 11: 102,467,580 (GRCm39) V33I unknown Het
Helz2 T A 2: 180,879,272 (GRCm39) H782L probably benign Het
Kcnmb3 A G 3: 32,526,531 (GRCm39) V220A probably damaging Het
Kif20a T C 18: 34,761,515 (GRCm39) S303P possibly damaging Het
Kif22 A T 7: 126,630,126 (GRCm39) V470E possibly damaging Het
Majin C T 19: 6,263,342 (GRCm39) T132M probably benign Het
Mboat7 A G 7: 3,688,671 (GRCm39) probably null Het
Mkrn2 C A 6: 115,588,875 (GRCm39) P206Q probably benign Het
Mphosph9 G A 5: 124,442,274 (GRCm39) T358M probably damaging Het
Nkd1 A G 8: 89,318,305 (GRCm39) D210G probably damaging Het
Or4c110 C T 2: 88,831,976 (GRCm39) V219I probably damaging Het
Or4k41 T A 2: 111,279,971 (GRCm39) L162Q possibly damaging Het
Or5b95 G C 19: 12,658,165 (GRCm39) G231A probably damaging Het
Or5p69 T A 7: 107,966,947 (GRCm39) N83K probably benign Het
Or6c35 G A 10: 129,169,541 (GRCm39) D264N probably benign Het
Or9s15 A T 1: 92,524,328 (GRCm39) E29V probably benign Het
Pi4ka A G 16: 17,120,976 (GRCm39) Y63H probably damaging Het
Plekha1 A G 7: 130,503,922 (GRCm39) R210G probably damaging Het
Ppp2r2c C T 5: 37,109,748 (GRCm39) T369I possibly damaging Het
Relch A G 1: 105,670,979 (GRCm39) D1029G probably damaging Het
Rmnd1 T C 10: 4,357,884 (GRCm39) D12G probably damaging Het
Rtn2 A G 7: 19,027,664 (GRCm39) K120E probably damaging Het
Sh3tc1 A G 5: 35,873,508 (GRCm39) S30P probably benign Het
Tln2 T C 9: 67,179,986 (GRCm39) E795G possibly damaging Het
Tmprss11d T A 5: 86,457,128 (GRCm39) Y177F probably damaging Het
Trrap C A 5: 144,765,372 (GRCm39) D2529E probably benign Het
Vmn2r58 A G 7: 41,513,417 (GRCm39) Y409H probably benign Het
Wdr72 T A 9: 74,058,876 (GRCm39) V323D 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
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
R9640:Or5ae2 UTSW 7 84,506,114 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-25