Incidental Mutation 'R2181:Or52e5'
ID 237188
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 040183-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R2181 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104718676-104719617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104719418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 248 (V248A)
Ref Sequence ENSEMBL: ENSMUSP00000150213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098160] [ENSMUST00000213622]
AlphaFold Q8VG26
Predicted Effect possibly damaging
Transcript: ENSMUST00000098160
AA Change: V248A

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095763
Gene: ENSMUSG00000073913
AA Change: V248A

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 possibly damaging
Transcript: ENSMUST00000213622
AA Change: V248A

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik C T 16: 3,724,950 (GRCm39) S43N possibly damaging Het
Abcb5 T G 12: 118,831,681 (GRCm39) I1224L possibly damaging Het
Adgra2 G A 8: 27,611,701 (GRCm39) G1002S probably damaging Het
Arhgap28 T C 17: 68,203,112 (GRCm39) T114A probably damaging Het
Colec12 T A 18: 9,846,828 (GRCm39) S75T probably damaging Het
Cyp2c67 A G 19: 39,597,541 (GRCm39) C486R possibly damaging Het
Ecm2 T A 13: 49,683,765 (GRCm39) L581Q probably damaging Het
Faxc T A 4: 21,931,591 (GRCm39) S10T probably benign Het
Frem2 A G 3: 53,482,008 (GRCm39) I1893T possibly damaging Het
Gabrr3 T A 16: 59,268,372 (GRCm39) D328E probably damaging Het
Gbp7 A G 3: 142,249,791 (GRCm39) I421V possibly damaging Het
Gorasp1 A G 9: 119,757,422 (GRCm39) S317P probably damaging Het
Htr6 A G 4: 138,801,736 (GRCm39) S113P probably damaging Het
Ift74 A G 4: 94,520,951 (GRCm39) E168G probably damaging Het
Kdm6b A T 11: 69,291,952 (GRCm39) Y1443* probably null Het
Mmp28 A C 11: 83,333,543 (GRCm39) V466G possibly damaging Het
Nbea A T 3: 55,937,360 (GRCm39) S750R possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Nelfa T C 5: 34,057,853 (GRCm39) N314D probably benign Het
Numbl T A 7: 26,968,346 (GRCm39) probably null Het
Or13c25 T A 4: 52,911,524 (GRCm39) K90M probably damaging Het
Or1j17 G A 2: 36,578,346 (GRCm39) D111N probably damaging Het
Or2p2 G T 13: 21,257,394 (GRCm39) P26T probably damaging Het
Or5b113 G T 19: 13,342,438 (GRCm39) V149F probably benign Het
Penk T C 4: 4,134,041 (GRCm39) probably null Het
Pglyrp2 A G 17: 32,637,936 (GRCm39) S31P probably damaging Het
Pigg T C 5: 108,484,366 (GRCm39) S538P probably damaging Het
Pld2 A G 11: 70,433,815 (GRCm39) T252A possibly damaging Het
Ppp2r5e T C 12: 75,509,098 (GRCm39) I394V probably benign Het
Sh3rf1 G T 8: 61,816,272 (GRCm39) V510F probably damaging Het
Slc4a2 A G 5: 24,640,651 (GRCm39) H677R possibly damaging Het
Stam2 A T 2: 52,593,156 (GRCm39) H345Q probably benign Het
Tmtc3 T C 10: 100,284,835 (GRCm39) N600S probably benign Het
Trappc8 A G 18: 20,952,279 (GRCm39) probably null Het
Vmn1r72 A T 7: 11,403,595 (GRCm39) C284* probably null Het
Vmn2r76 T C 7: 85,874,743 (GRCm39) I745V probably benign Het
Zfhx4 A C 3: 5,468,392 (GRCm39) D2850A probably damaging Het
Zfp764 A G 7: 127,005,671 (GRCm39) W36R probably damaging Het
Zfp804b G A 5: 6,821,674 (GRCm39) T463I probably damaging Het
Zfp811 T G 17: 33,016,695 (GRCm39) K448N 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
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'- ATGGGTTTGGCAAAGCTAGC -3'
(R):5'- CTGAATTTCAGTGCATCTTAGGG -3'

Sequencing Primer
(F):5'- GCTAGCATGTGCCAATATCAAGGTC -3'
(R):5'- CAGTGCATCTTAGGGTTAAGCATTC -3'
Posted On 2014-10-02