Incidental Mutation 'R7783:Or5e1'
ID 599379
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 045839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R7783 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 108354065-108354994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108354776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 238 (T238S)
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: T238S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: T238S

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: T238S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,875 (GRCm39) Y447* probably null Het
Abl2 T C 1: 156,386,641 (GRCm39) V8A probably benign Het
Adam33 C T 2: 130,900,257 (GRCm39) R103K unknown Het
Adamts13 G T 2: 26,880,597 (GRCm39) A727S not run Het
Ajm1 A T 2: 25,467,820 (GRCm39) L697Q probably damaging Het
Alpk2 A T 18: 65,439,325 (GRCm39) C689* probably null Het
Amt C T 9: 108,174,414 (GRCm39) Q60* probably null Het
Ankrd12 A G 17: 66,334,245 (GRCm39) probably null Het
Ankrd28 A T 14: 31,428,770 (GRCm39) N920K probably damaging Het
Ankrd36 T C 11: 5,585,359 (GRCm39) L390P probably damaging Het
Arvcf T G 16: 18,207,063 (GRCm39) H7Q probably benign Het
Asns A G 6: 7,677,978 (GRCm39) S367P probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
C7 T A 15: 5,037,192 (GRCm39) H562L probably benign Het
Ccdc77 T C 6: 120,327,334 (GRCm39) D37G probably damaging Het
Cdc14a C T 3: 116,198,236 (GRCm39) A58T probably damaging Het
Cdc42bpb C T 12: 111,302,459 (GRCm39) probably null Het
Cilk1 G T 9: 78,042,927 (GRCm39) V51F probably damaging Het
Corin A T 5: 72,458,967 (GRCm39) F1068L probably benign Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Ercc3 T A 18: 32,381,296 (GRCm39) S371T probably damaging Het
Fam193a A C 5: 34,588,524 (GRCm39) K358Q probably damaging Het
Fem1a G A 17: 56,564,522 (GRCm39) C205Y probably benign Het
Fh1 G A 1: 175,439,744 (GRCm39) T233M probably damaging Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,143,377 (GRCm39) probably benign Het
Gabra6 T C 11: 42,207,289 (GRCm39) N265S probably damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Grm6 T A 11: 50,753,909 (GRCm39) C738S probably damaging Het
Gtsf1 C T 15: 103,336,996 (GRCm39) probably benign Het
Hcrtr2 T A 9: 76,140,196 (GRCm39) Y364F probably damaging Het
Ifit1bl1 T C 19: 34,571,336 (GRCm39) I374V probably benign Het
Il31ra A T 13: 112,677,785 (GRCm39) F250L probably benign Het
Iqgap1 A G 7: 80,458,807 (GRCm39) V37A probably benign Het
Izumo3 A T 4: 92,033,260 (GRCm39) I182K probably damaging Het
Kidins220 G A 12: 25,038,555 (GRCm39) A36T probably damaging Het
Lrrtm1 G T 6: 77,221,236 (GRCm39) R231L probably damaging Het
Mical2 A T 7: 112,012,183 (GRCm39) S678C probably damaging Het
Mme T G 3: 63,272,288 (GRCm39) F629C probably damaging Het
Muc5b T A 7: 141,411,078 (GRCm39) H1341Q unknown Het
Or13a28 A G 7: 140,217,637 (GRCm39) T8A possibly damaging Het
Or13p5 T A 4: 118,592,099 (GRCm39) D124E probably damaging Het
Or2y1e A G 11: 49,219,029 (GRCm39) S264G probably benign Het
Or5p70 A G 7: 107,995,296 (GRCm39) H323R probably benign Het
Parm1 A T 5: 91,741,724 (GRCm39) M31L probably benign Het
Pcdhb18 G A 18: 37,622,874 (GRCm39) C68Y probably benign Het
Pkn3 A T 2: 29,969,634 (GRCm39) E35V probably damaging Het
Pla2g4a A T 1: 149,748,495 (GRCm39) Y238N probably damaging Het
Pld6 T C 11: 59,678,097 (GRCm39) D122G probably damaging Het
Prag1 G T 8: 36,570,409 (GRCm39) A331S possibly damaging Het
Rbm44 A G 1: 91,096,551 (GRCm39) D970G probably benign Het
Rps6kc1 A G 1: 190,505,851 (GRCm39) V1037A probably benign Het
Slc12a7 T C 13: 73,953,588 (GRCm39) V766A probably benign Het
Spata18 A G 5: 73,825,953 (GRCm39) T87A Het
St3gal3 T C 4: 117,797,320 (GRCm39) M308V probably benign Het
Stx19 T C 16: 62,642,649 (GRCm39) L155S probably benign Het
Tespa1 A T 10: 130,192,752 (GRCm39) T145S probably damaging Het
Timm21 A C 18: 84,965,846 (GRCm39) F221V possibly damaging Het
Tlr1 A T 5: 65,082,264 (GRCm39) F771Y probably damaging Het
Tmem150a C A 6: 72,335,606 (GRCm39) L125I unknown Het
Try4 T C 6: 41,279,229 (GRCm39) L4P possibly damaging Het
Txlna C T 4: 129,525,950 (GRCm39) R299H probably damaging Het
Txndc16 A T 14: 45,382,417 (GRCm39) N609K probably benign Het
Upf1 T C 8: 70,805,508 (GRCm39) T46A probably benign Het
Zfp266 T C 9: 20,411,626 (GRCm39) N184D probably benign Het
Zfp407 A G 18: 84,228,047 (GRCm39) V1854A possibly damaging Het
Zfp626 T A 7: 27,517,795 (GRCm39) C259S 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
R4006:Or5e1 UTSW 7 108,354,468 (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
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'- ACCACTTCTACTGTGCTGAC -3'
(R):5'- ATGAAGTTTTGCCCTCCAGC -3'

Sequencing Primer
(F):5'- TCACTGGATCCCTCATGA -3'
(R):5'- TTCAGAGTATCCTTTACCTCTGTG -3'
Posted On 2019-11-26