Incidental Mutation 'R4076:Or52e18'
ID 316563
Institutional Source Beutler Lab
Gene Symbol Or52e18
Ensembl Gene ENSMUSG00000044705
Gene Name olfactory receptor family 52 subfamily E member 18
Synonyms Olfr670, MOR32-8, GA_x6K02T2PBJ9-7589577-7588639
MMRRC Submission 040975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4076 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104608999-104609937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104609923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 5 (N5K)
Ref Sequence ENSEMBL: ENSMUSP00000151138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050482] [ENSMUST00000214216]
AlphaFold Q7TRP3
Predicted Effect probably damaging
Transcript: ENSMUST00000050482
AA Change: N5K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060289
Gene: ENSMUSG00000044705
AA Change: N5K

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 3.7e-121 PFAM
Pfam:7TM_GPCR_Srsx 37 211 4.5e-7 PFAM
Pfam:7tm_1 43 293 3.9e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214216
AA Change: N5K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Anxa5 T C 3: 36,504,529 (GRCm39) I277V probably benign Het
Atg12 A G 18: 46,870,491 (GRCm39) F92L probably benign Het
Cd48 T A 1: 171,523,451 (GRCm39) V98D probably damaging Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dnah9 T C 11: 65,975,730 (GRCm39) T1440A probably benign Het
Dnali1 T C 4: 124,953,263 (GRCm39) D188G probably damaging Het
Dst A G 1: 34,231,350 (GRCm39) E2656G probably benign Het
Eps15l1 A G 8: 73,134,128 (GRCm39) I482T probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Eva1c T A 16: 90,701,019 (GRCm39) F331Y probably damaging Het
Fcho1 T C 8: 72,163,013 (GRCm39) H672R probably damaging Het
Fras1 G C 5: 96,891,017 (GRCm39) D2849H probably damaging Het
Hdc C T 2: 126,458,181 (GRCm39) R47Q possibly damaging Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Krtap31-1 T C 11: 99,799,058 (GRCm39) I87T possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Ltb4r2 A T 14: 56,000,398 (GRCm39) R340W probably benign Het
Map10 T C 8: 126,398,584 (GRCm39) V659A probably benign Het
Nars2 T A 7: 96,607,301 (GRCm39) S91T probably damaging Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Osgin1 A C 8: 120,171,772 (GRCm39) S189R possibly damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Pik3c2g A T 6: 139,798,589 (GRCm39) N373I probably damaging Het
Pou2f2 T C 7: 24,796,713 (GRCm39) T270A probably damaging Het
Rad51b T G 12: 79,361,656 (GRCm39) S122R probably damaging Het
Rev1 T G 1: 38,093,319 (GRCm39) K1075T possibly damaging Het
Rrbp1 T G 2: 143,805,030 (GRCm39) Q1045P probably benign Het
Scg2 A C 1: 79,414,574 (GRCm39) F50V probably damaging Het
Slco1a5 A T 6: 142,213,950 (GRCm39) I57K possibly damaging Het
Tfb1m T A 17: 3,571,945 (GRCm39) R257W probably damaging Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Zfp608 A T 18: 55,031,180 (GRCm39) V920E probably damaging Het
Other mutations in Or52e18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Or52e18 APN 7 104,609,923 (GRCm39) missense probably damaging 0.96
IGL01100:Or52e18 APN 7 104,609,202 (GRCm39) missense probably benign 0.07
IGL01351:Or52e18 APN 7 104,609,946 (GRCm39) start gained probably benign
IGL01478:Or52e18 APN 7 104,609,555 (GRCm39) missense probably damaging 0.97
IGL01835:Or52e18 APN 7 104,609,669 (GRCm39) missense probably benign 0.01
IGL02326:Or52e18 APN 7 104,609,853 (GRCm39) missense probably benign 0.12
IGL02434:Or52e18 APN 7 104,609,281 (GRCm39) nonsense probably null
IGL02434:Or52e18 APN 7 104,609,279 (GRCm39) missense probably benign 0.05
IGL02968:Or52e18 APN 7 104,609,451 (GRCm39) missense possibly damaging 0.90
R0055:Or52e18 UTSW 7 104,609,703 (GRCm39) missense possibly damaging 0.46
R0055:Or52e18 UTSW 7 104,609,703 (GRCm39) missense possibly damaging 0.46
R0345:Or52e18 UTSW 7 104,609,388 (GRCm39) missense probably damaging 1.00
R0401:Or52e18 UTSW 7 104,609,150 (GRCm39) missense probably damaging 1.00
R0646:Or52e18 UTSW 7 104,609,018 (GRCm39) missense probably benign 0.02
R1493:Or52e18 UTSW 7 104,609,709 (GRCm39) missense probably damaging 0.97
R1532:Or52e18 UTSW 7 104,609,472 (GRCm39) missense probably benign
R1557:Or52e18 UTSW 7 104,609,747 (GRCm39) missense probably damaging 0.99
R4072:Or52e18 UTSW 7 104,609,923 (GRCm39) missense probably damaging 0.96
R4074:Or52e18 UTSW 7 104,609,923 (GRCm39) missense probably damaging 0.96
R4075:Or52e18 UTSW 7 104,609,923 (GRCm39) missense probably damaging 0.96
R4229:Or52e18 UTSW 7 104,609,801 (GRCm39) missense probably benign 0.18
R4230:Or52e18 UTSW 7 104,609,801 (GRCm39) missense probably benign 0.18
R5374:Or52e18 UTSW 7 104,609,203 (GRCm39) missense probably damaging 1.00
R6006:Or52e18 UTSW 7 104,609,870 (GRCm39) missense probably damaging 0.99
R6891:Or52e18 UTSW 7 104,609,192 (GRCm39) missense probably damaging 1.00
R7465:Or52e18 UTSW 7 104,609,124 (GRCm39) missense probably benign 0.23
R8105:Or52e18 UTSW 7 104,609,629 (GRCm39) missense probably benign 0.15
R8117:Or52e18 UTSW 7 104,609,356 (GRCm39) missense probably damaging 1.00
R8356:Or52e18 UTSW 7 104,609,934 (GRCm39) missense probably benign 0.00
R8510:Or52e18 UTSW 7 104,609,321 (GRCm39) nonsense probably null
R9145:Or52e18 UTSW 7 104,609,204 (GRCm39) missense probably damaging 1.00
R9168:Or52e18 UTSW 7 104,609,001 (GRCm39) makesense probably null
R9234:Or52e18 UTSW 7 104,609,651 (GRCm39) missense probably damaging 1.00
R9706:Or52e18 UTSW 7 104,609,195 (GRCm39) missense probably damaging 0.99
R9789:Or52e18 UTSW 7 104,609,657 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGCCCAGCATTGCTAAGAAG -3'
(R):5'- CTGCAGCTTATCTAGTGTTCACAG -3'

Sequencing Primer
(F):5'- CCAGCATTGCTAAGAAGTAAAACATG -3'
(R):5'- GAGCATTTGACTAGCACATGC -3'
Posted On 2015-05-15