Incidental Mutation 'R1423:Or52e5'
ID 161168
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 039479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R1423 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104718676-104719617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 104719226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 184 (M184R)
Ref Sequence ENSEMBL: ENSMUSP00000150213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098160] [ENSMUST00000213622]
AlphaFold Q8VG26
Predicted Effect probably damaging
Transcript: ENSMUST00000098160
AA Change: M184R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095763
Gene: ENSMUSG00000073913
AA Change: M184R

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 damaging
Transcript: ENSMUST00000213622
AA Change: M184R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1412 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d A G 19: 4,331,097 (GRCm39) S64P probably damaging Het
Armh4 T C 14: 49,988,896 (GRCm39) E691G probably damaging Het
Bag4 T C 8: 26,258,302 (GRCm39) S342G probably damaging Het
Bbs1 G A 19: 4,944,291 (GRCm39) T446I probably benign Het
Bmyc A G 2: 25,597,236 (GRCm39) D100G probably damaging Het
Btbd7 T C 12: 102,751,734 (GRCm39) D1010G possibly damaging Het
Celsr3 A T 9: 108,704,104 (GRCm39) T196S probably benign Het
Crtam C A 9: 40,884,918 (GRCm39) R161L probably benign Het
Cyp11b2 C A 15: 74,724,979 (GRCm39) G290V probably damaging Het
Edc4 C T 8: 106,617,843 (GRCm39) probably benign Het
Exd1 A T 2: 119,370,494 (GRCm39) probably benign Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fbxo16 T C 14: 65,524,623 (GRCm39) probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gabrb2 A G 11: 42,420,298 (GRCm39) N173S probably damaging Het
Gm13741 A T 2: 87,486,674 (GRCm39) I197K possibly damaging Het
Helb T A 10: 119,944,871 (GRCm39) I222F probably damaging Het
Hesx1 A T 14: 26,723,876 (GRCm39) Q153L probably null Het
Isca1 T C 13: 59,910,593 (GRCm39) N33S probably benign Het
Itsn2 T C 12: 4,723,572 (GRCm39) V1142A probably damaging Het
Lama5 T G 2: 179,837,434 (GRCm39) T984P probably damaging Het
Lima1 T A 15: 99,717,626 (GRCm39) K127* probably null Het
Lmbrd1 T A 1: 24,785,959 (GRCm39) V418D probably damaging Het
Mertk T C 2: 128,620,883 (GRCm39) V575A probably damaging Het
Mrps28 T C 3: 8,965,184 (GRCm39) H85R probably benign Het
Mrtfb T C 16: 13,230,105 (GRCm39) V930A possibly damaging Het
Naip2 G A 13: 100,291,386 (GRCm39) T1184M probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Naip2 TCCC TCC 13: 100,291,355 (GRCm39) probably benign Het
Naip2 G A 13: 100,291,380 (GRCm39) S1186F possibly damaging Het
Nhlrc3 A T 3: 53,369,836 (GRCm39) L45H probably damaging Het
Or52u1 C T 7: 104,237,682 (GRCm39) R224* probably null Het
Or8s16 T C 15: 98,211,324 (GRCm39) T36A probably damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdhb15 A T 18: 37,606,975 (GRCm39) D69V probably damaging Het
Pitpnm1 G A 19: 4,162,392 (GRCm39) R1074H probably damaging Het
Plb1 A G 5: 32,450,601 (GRCm39) N381D probably benign Het
Poc1b T C 10: 98,988,725 (GRCm39) S247P probably damaging Het
Prl7b1 T A 13: 27,786,110 (GRCm39) N186I probably damaging Het
Riok1 T C 13: 38,233,090 (GRCm39) M241T probably damaging Het
Tigit T C 16: 43,469,395 (GRCm39) E232G probably benign Het
Tpst2 T A 5: 112,455,488 (GRCm39) L9Q probably benign Het
Ttbk1 T C 17: 46,757,080 (GRCm39) probably benign Het
Vmn1r3 A T 4: 3,185,231 (GRCm39) N25K probably damaging Het
Vmn2r121 T A X: 123,039,602 (GRCm39) H522L possibly damaging Het
Vmn2r15 T C 5: 109,441,093 (GRCm39) Y255C 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
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
R5847:Or52e5 UTSW 7 104,719,064 (GRCm39) missense probably benign 0.01
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'- ATCCATACATGCACTGGCCTGGAG -3'
(R):5'- ACATGACACTGACATGGGAGCCAC -3'

Sequencing Primer
(F):5'- CTGTGGTACTGACAATTATGGC -3'
(R):5'- GAGCCACATGTACTTAGTGCC -3'
Posted On 2014-03-14