Incidental Mutation 'R5847:Or52e5'
ID 453676
Institutional Source Beutler Lab
Gene Symbol Or52e5
Ensembl Gene ENSMUSG00000073913
Gene Name olfactory receptor family 52 subfamily E member 5
Synonyms MOR32-5, GA_x6K02T2PBJ9-7698491-7699432, Olfr678
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104718676-104719617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104719064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 130 (Y130F)
Ref Sequence ENSEMBL: ENSMUSP00000150213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098160] [ENSMUST00000213622]
AlphaFold Q8VG26
Predicted Effect probably benign
Transcript: ENSMUST00000098160
AA Change: Y130F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000095763
Gene: ENSMUSG00000073913
AA Change: Y130F

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 2.2e-115 PFAM
Pfam:7TM_GPCR_Srsx 37 212 2.8e-6 PFAM
Pfam:7tm_1 43 293 8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213622
AA Change: Y130F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R probably damaging Het
Other mutations in Or52e5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Or52e5 APN 7 104,718,808 (GRCm39) missense probably benign 0.44
IGL01469:Or52e5 APN 7 104,719,595 (GRCm39) missense probably benign 0.05
IGL01726:Or52e5 APN 7 104,718,836 (GRCm39) missense probably damaging 1.00
IGL03263:Or52e5 APN 7 104,719,209 (GRCm39) missense probably damaging 1.00
R1423:Or52e5 UTSW 7 104,719,226 (GRCm39) missense probably damaging 1.00
R2181:Or52e5 UTSW 7 104,719,418 (GRCm39) missense possibly damaging 0.88
R4594:Or52e5 UTSW 7 104,718,797 (GRCm39) missense probably benign 0.00
R5376:Or52e5 UTSW 7 104,719,564 (GRCm39) missense probably damaging 1.00
R5782:Or52e5 UTSW 7 104,718,956 (GRCm39) missense probably damaging 1.00
R6418:Or52e5 UTSW 7 104,719,514 (GRCm39) missense probably damaging 1.00
R6664:Or52e5 UTSW 7 104,719,395 (GRCm39) missense possibly damaging 0.64
R7593:Or52e5 UTSW 7 104,718,704 (GRCm39) missense probably benign 0.27
R8813:Or52e5 UTSW 7 104,719,518 (GRCm39) nonsense probably null
R8841:Or52e5 UTSW 7 104,719,479 (GRCm39) missense possibly damaging 0.69
R8933:Or52e5 UTSW 7 104,718,599 (GRCm39) start gained probably benign
R9485:Or52e5 UTSW 7 104,718,703 (GRCm39) missense possibly damaging 0.60
R9696:Or52e5 UTSW 7 104,719,283 (GRCm39) missense probably damaging 0.98
RF015:Or52e5 UTSW 7 104,719,255 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGATCCAAACTGAACGCAGC -3'
(R):5'- AACCCATGTGTTCACAGTAGG -3'

Sequencing Primer
(F):5'- GCATGCACTGATTTGGGCCTATC -3'
(R):5'- ACCCATGTGTTCACAGTAGGTATGTG -3'
Posted On 2017-02-10