Incidental Mutation 'R5050:Or52e8b'
ID 394595
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 042640-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R5050 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104673232-104674173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104673594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 198 (I198F)
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: I194F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072847
Gene: ENSMUSG00000096773
AA Change: I194F

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: I198F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214318
AA Change: I198F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215899
AA Change: I198F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4212 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (69/69)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,989,822 (GRCm39) probably benign Het
Ap3m1 A G 14: 21,094,843 (GRCm39) I108T probably benign Het
Apobec1 T C 6: 122,568,061 (GRCm39) M1V probably null Het
Aqr A T 2: 113,943,090 (GRCm39) L1161* probably null Het
Aqr A T 2: 114,000,506 (GRCm39) probably null Het
Arhgef37 A G 18: 61,637,402 (GRCm39) I420T probably benign Het
Cacna1g C T 11: 94,350,541 (GRCm39) E435K probably damaging Het
Card6 G T 15: 5,129,858 (GRCm39) H513N probably benign Het
Ccdc158 A C 5: 92,814,738 (GRCm39) F29L probably benign Het
Ccr6 T C 17: 8,474,936 (GRCm39) L47S probably damaging Het
Cdc42bpa T A 1: 179,900,018 (GRCm39) Y444* probably null Het
Cdh17 A G 4: 11,784,654 (GRCm39) Y270C probably damaging Het
Cdh9 T C 15: 16,778,233 (GRCm39) F16S probably benign Het
Cdkl1 T C 12: 69,804,014 (GRCm39) K141R probably damaging Het
Cfhr4 T A 1: 139,664,578 (GRCm39) I494F probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Dhrs7 T A 12: 72,704,184 (GRCm39) D104V probably damaging Het
Dhtkd1 A T 2: 5,922,500 (GRCm39) L553Q probably benign Het
Dnah7a T G 1: 53,536,255 (GRCm39) D2596A probably benign Het
Dync1li2 T C 8: 105,164,073 (GRCm39) K151E probably damaging Het
Eno4 C T 19: 58,943,928 (GRCm39) H297Y probably benign Het
Epg5 T A 18: 78,019,156 (GRCm39) D976E possibly damaging Het
Fhip2a T A 19: 57,371,602 (GRCm39) F571L probably damaging Het
Gm4553 C A 7: 141,718,773 (GRCm39) K218N unknown Het
Gpld1 A T 13: 25,146,739 (GRCm39) T234S probably benign Het
Gtpbp6 A T 5: 110,252,567 (GRCm39) probably benign Het
Gucy2g T C 19: 55,229,367 (GRCm39) E101G probably benign Het
Gvin3 T C 7: 106,196,179 (GRCm39) noncoding transcript Het
Hira G A 16: 18,744,609 (GRCm39) R442K possibly damaging Het
Hrh3 A G 2: 179,742,350 (GRCm39) L394P probably damaging Het
Igkv1-110 T A 6: 68,248,176 (GRCm39) F95Y probably damaging Het
Iqgap3 T G 3: 87,997,493 (GRCm39) V223G probably damaging Het
Itpk1 T C 12: 102,671,069 (GRCm39) T3A probably damaging Het
Jag1 A G 2: 136,927,074 (GRCm39) V895A possibly damaging Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Large2 A T 2: 92,198,124 (GRCm39) L282Q probably benign Het
Lgmn A G 12: 102,369,680 (GRCm39) probably null Het
Lrp4 A T 2: 91,322,767 (GRCm39) I1119F probably benign Het
Map3k19 T C 1: 127,751,299 (GRCm39) H684R probably benign Het
Mier3 C T 13: 111,851,107 (GRCm39) A367V possibly damaging Het
Mpdz A G 4: 81,213,685 (GRCm39) V1579A probably benign Het
Mroh2b A T 15: 4,929,932 (GRCm39) D6V possibly damaging Het
Myh7b A G 2: 155,473,670 (GRCm39) I1568V probably benign Het
Plch2 C T 4: 155,127,766 (GRCm39) probably benign Het
Plek T C 11: 16,945,216 (GRCm39) D38G probably damaging Het
Polr2f A G 15: 79,028,862 (GRCm39) probably benign Het
Samsn1 A G 16: 75,685,645 (GRCm39) S38P probably benign Het
Sf1 C T 19: 6,422,589 (GRCm39) T248I probably damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Sharpin A T 15: 76,232,530 (GRCm39) L160H probably damaging Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Syn3 T C 10: 86,243,532 (GRCm39) T136A probably benign Het
Tcam1 G A 11: 106,176,278 (GRCm39) V335M possibly damaging Het
Tedc1 G T 12: 113,120,325 (GRCm39) V56L possibly damaging Het
Tenm4 T C 7: 96,544,995 (GRCm39) L2337P probably damaging Het
Ttn G A 2: 76,715,155 (GRCm39) probably benign Het
Tysnd1 T A 10: 61,532,050 (GRCm39) I234N probably damaging Het
Vmn2r51 T C 7: 9,834,349 (GRCm39) K230E 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
R3690:Or52e8b UTSW 7 104,673,902 (GRCm39) missense probably damaging 0.99
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
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'- GTGGCCAAAACGATGTGTCAAG -3'
(R):5'- CGTTGCCATTTGTAAGCCCC -3'

Sequencing Primer
(F):5'- CCAAAACGATGTGTCAAGAAGGAG -3'
(R):5'- GCCATTTGTAAGCCCCTTCAATATAC -3'
Posted On 2016-06-15