Incidental Mutation 'R4006:Or5e1'
ID 311474
Institutional Source Beutler Lab
Gene Symbol Or5e1
Ensembl Gene ENSMUSG00000051200
Gene Name olfactory receptor family 5 subfamily E member 1
Synonyms GA_x6K02T2PBJ9-11084889-11085818, Olfr513, MOR195-1
MMRRC Submission 040845-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R4006 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 108354065-108354994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108354468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 135 (T135I)
Ref Sequence ENSEMBL: ENSMUSP00000149440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055146] [ENSMUST00000214670]
AlphaFold Q8VFZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000055146
AA Change: T135I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: T135I

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 2.7e-55 PFAM
Pfam:7TM_GPCR_Srsx 33 304 2.3e-6 PFAM
Pfam:7tm_1 39 289 2.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214670
AA Change: T135I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,600 (GRCm39) probably null Het
Ano4 C A 10: 88,924,125 (GRCm39) V329L probably benign Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cimip1 T C 2: 173,367,880 (GRCm39) probably null Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Fbln2 C A 6: 91,246,943 (GRCm39) probably null Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Prkcg G A 7: 3,375,983 (GRCm39) V492I probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I possibly damaging Het
Other mutations in Or5e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02491:Or5e1 APN 7 108,354,321 (GRCm39) missense probably damaging 1.00
IGL03086:Or5e1 APN 7 108,355,003 (GRCm39) utr 3 prime probably benign
FR4340:Or5e1 UTSW 7 108,354,161 (GRCm39) small insertion probably benign
IGL02799:Or5e1 UTSW 7 108,354,830 (GRCm39) missense probably benign
R0218:Or5e1 UTSW 7 108,354,781 (GRCm39) nonsense probably null
R1103:Or5e1 UTSW 7 108,354,090 (GRCm39) missense possibly damaging 0.92
R1251:Or5e1 UTSW 7 108,354,114 (GRCm39) missense probably damaging 0.99
R1450:Or5e1 UTSW 7 108,354,719 (GRCm39) missense probably damaging 1.00
R1582:Or5e1 UTSW 7 108,354,317 (GRCm39) missense probably benign 0.04
R1608:Or5e1 UTSW 7 108,354,309 (GRCm39) missense probably damaging 0.99
R1726:Or5e1 UTSW 7 108,354,215 (GRCm39) missense probably benign 0.00
R1880:Or5e1 UTSW 7 108,354,335 (GRCm39) missense probably damaging 1.00
R1881:Or5e1 UTSW 7 108,354,335 (GRCm39) missense probably damaging 1.00
R2136:Or5e1 UTSW 7 108,354,430 (GRCm39) missense possibly damaging 0.58
R2216:Or5e1 UTSW 7 108,354,819 (GRCm39) missense probably damaging 1.00
R4603:Or5e1 UTSW 7 108,354,834 (GRCm39) missense probably damaging 1.00
R4881:Or5e1 UTSW 7 108,354,612 (GRCm39) missense probably damaging 1.00
R5132:Or5e1 UTSW 7 108,354,477 (GRCm39) missense probably damaging 1.00
R5426:Or5e1 UTSW 7 108,354,924 (GRCm39) missense possibly damaging 0.94
R5679:Or5e1 UTSW 7 108,354,203 (GRCm39) missense probably damaging 0.97
R5848:Or5e1 UTSW 7 108,354,781 (GRCm39) nonsense probably null
R5911:Or5e1 UTSW 7 108,354,882 (GRCm39) missense probably benign 0.36
R6474:Or5e1 UTSW 7 108,354,236 (GRCm39) missense probably damaging 1.00
R7016:Or5e1 UTSW 7 108,354,918 (GRCm39) missense probably damaging 1.00
R7783:Or5e1 UTSW 7 108,354,776 (GRCm39) missense probably damaging 1.00
R8113:Or5e1 UTSW 7 108,354,438 (GRCm39) missense probably damaging 1.00
R8385:Or5e1 UTSW 7 108,354,511 (GRCm39) nonsense probably null
R9429:Or5e1 UTSW 7 108,354,412 (GRCm39) missense probably damaging 0.98
R9746:Or5e1 UTSW 7 108,354,639 (GRCm39) missense probably benign
Z1088:Or5e1 UTSW 7 108,354,311 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GGCTTCACACGCCAATGTAC -3'
(R):5'- GATCAGAAGCTGCCTCTCTTTG -3'

Sequencing Primer
(F):5'- CTTCCATTGGGCCAAAAATGCTG -3'
(R):5'- CAGAAGCTGCCTCTCTTTGTTGTG -3'
Posted On 2015-04-29