Incidental Mutation 'R3690:Or52e8b'
ID 269732
Institutional Source Beutler Lab
Gene Symbol Or52e8b
Ensembl Gene ENSMUSG00000096773
Gene Name olfactory receptor family 52 subfamily E member 8B
Synonyms MOR32-9P, Olfr675, GA_x6K02T2PBJ9-7653782-7652841
MMRRC Submission 040685-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R3690 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104673232-104674173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104673902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 95 (L95P)
Ref Sequence ENSEMBL: ENSMUSP00000149895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073102] [ENSMUST00000210113] [ENSMUST00000214318] [ENSMUST00000215899]
AlphaFold A0A1B0GSE1
Predicted Effect probably damaging
Transcript: ENSMUST00000073102
AA Change: L91P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072847
Gene: ENSMUSG00000096773
AA Change: L91P

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 5e-118 PFAM
Pfam:7TM_GPCR_Srsx 37 308 1.9e-6 PFAM
Pfam:7tm_1 43 293 2.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210113
AA Change: L95P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214318
AA Change: L95P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215899
AA Change: L95P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,091,328 (GRCm39) Y629F probably benign Het
Abcb5 T A 12: 118,836,668 (GRCm39) D1081V probably damaging Het
Afdn A G 17: 14,108,671 (GRCm39) E1398G probably damaging Het
Atp8b5 T C 4: 43,368,055 (GRCm39) C893R probably damaging Het
Avl9 C T 6: 56,713,812 (GRCm39) H357Y probably benign Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Btbd19 A T 4: 116,977,789 (GRCm39) probably benign Het
Cap1 A G 4: 122,758,419 (GRCm39) S254P probably damaging Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cln6 T C 9: 62,754,252 (GRCm39) I98T possibly damaging Het
Cul9 T C 17: 46,814,957 (GRCm39) probably null Het
Dcx T C X: 142,660,240 (GRCm39) E268G possibly damaging Het
Ddias G A 7: 92,509,366 (GRCm39) P183L probably benign Het
Dnase2b A T 3: 146,299,326 (GRCm39) Y42* probably null Het
Dusp16 C T 6: 134,738,082 (GRCm39) probably benign Het
Egfr T C 11: 16,821,881 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,227,393 (GRCm39) V842A probably benign Het
Folr1 T C 7: 101,507,745 (GRCm39) S232G probably benign Het
Foxj3 T C 4: 119,473,839 (GRCm39) probably benign Het
Fpr-rs6 T C 17: 20,403,137 (GRCm39) M75V probably benign Het
Fxyd5 G T 7: 30,735,864 (GRCm39) L128M possibly damaging Het
Gigyf2 T C 1: 87,349,238 (GRCm39) S500P possibly damaging Het
Inppl1 A G 7: 101,481,275 (GRCm39) L268P probably damaging Het
Klk1b24 A T 7: 43,841,243 (GRCm39) H192L probably benign Het
Llgl1 T G 11: 60,597,828 (GRCm39) Y316D probably damaging Het
Lmbrd1 T A 1: 24,801,374 (GRCm39) *143R probably null Het
Map3k15 T A X: 158,905,568 (GRCm39) N1295K possibly damaging Het
Mcm3ap A G 10: 76,318,513 (GRCm39) E678G probably damaging Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Nav1 T A 1: 135,395,382 (GRCm39) I996L probably benign Het
Neb T C 2: 52,027,397 (GRCm39) E6868G probably damaging Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Nup50 C T 15: 84,823,994 (GRCm39) T449M probably damaging Het
Or14a256 G A 7: 86,265,686 (GRCm39) P56S probably damaging Het
Or2b6 A G 13: 21,823,508 (GRCm39) F62L probably damaging Het
Or51aa2 T C 7: 103,188,274 (GRCm39) T56A probably benign Het
Or52n2 T C 7: 104,542,724 (GRCm39) Y37C possibly damaging Het
Pald1 A T 10: 61,191,587 (GRCm39) probably null Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Ric3 A G 7: 108,637,817 (GRCm39) V312A possibly damaging Het
Scaper C T 9: 55,791,205 (GRCm39) G231D probably benign Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Smcr8 A G 11: 60,668,854 (GRCm39) M1V probably null Het
Smtn T C 11: 3,477,687 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Taf7l A T X: 133,365,074 (GRCm39) I449K probably damaging Het
Tex47 A G 5: 7,354,777 (GRCm39) probably benign Het
Tram2 T A 1: 21,075,824 (GRCm39) Y198F probably damaging Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Ube3a A G 7: 58,926,547 (GRCm39) K442E probably damaging Het
Vmn2r116 T A 17: 23,603,798 (GRCm39) F8I unknown Het
Vmn2r59 A G 7: 41,661,370 (GRCm39) F815S possibly damaging Het
Zap70 T C 1: 36,820,493 (GRCm39) C563R probably damaging Het
Zfp579 T C 7: 4,997,719 (GRCm39) H64R probably damaging Het
Other mutations in Or52e8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02639:Or52e8b APN 7 104,673,429 (GRCm39) missense probably damaging 1.00
IGL02944:Or52e8b APN 7 104,674,130 (GRCm39) missense probably damaging 1.00
R1182:Or52e8b UTSW 7 104,673,285 (GRCm39) missense probably damaging 1.00
R1412:Or52e8b UTSW 7 104,673,402 (GRCm39) missense probably damaging 1.00
R1528:Or52e8b UTSW 7 104,673,971 (GRCm39) missense probably damaging 1.00
R1555:Or52e8b UTSW 7 104,673,729 (GRCm39) missense probably benign 0.00
R1589:Or52e8b UTSW 7 104,673,767 (GRCm39) missense probably benign
R1778:Or52e8b UTSW 7 104,673,370 (GRCm39) missense probably benign 0.03
R3848:Or52e8b UTSW 7 104,673,539 (GRCm39) missense probably damaging 0.99
R4784:Or52e8b UTSW 7 104,673,737 (GRCm39) missense probably damaging 0.97
R5050:Or52e8b UTSW 7 104,673,594 (GRCm39) missense probably damaging 1.00
R5074:Or52e8b UTSW 7 104,673,260 (GRCm39) missense probably benign
R5499:Or52e8b UTSW 7 104,674,184 (GRCm39) start codon destroyed probably null 0.06
R5586:Or52e8b UTSW 7 104,673,428 (GRCm39) missense probably damaging 1.00
R7244:Or52e8b UTSW 7 104,674,148 (GRCm39) missense probably benign
R8297:Or52e8b UTSW 7 104,673,885 (GRCm39) missense probably benign 0.14
R8532:Or52e8b UTSW 7 104,673,773 (GRCm39) missense probably damaging 1.00
R9087:Or52e8b UTSW 7 104,673,910 (GRCm39) nonsense probably null
Z1176:Or52e8b UTSW 7 104,673,306 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATGTATAGGCTCCTCAGC -3'
(R):5'- GCACACATCTGGATTGGATTTCC -3'

Sequencing Primer
(F):5'- TCCTCAGCACAGCAATACCTG -3'
(R):5'- ACATCTGGATTGGATTTCCCTTTTG -3'
Posted On 2015-02-19