Incidental Mutation 'R0529:Or8b52'
ID 49059
Institutional Source Beutler Lab
Gene Symbol Or8b52
Ensembl Gene ENSMUSG00000063225
Gene Name olfactory receptor family 8 subfamily B member 52
Synonyms MOR168-2P, GA_x6K02T2PVTD-32368166-32367237, Olfr917
MMRRC Submission 038721-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0529 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38576209-38577138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38576808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 111 (C111S)
Ref Sequence ENSEMBL: ENSMUSP00000075857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076542] [ENSMUST00000215461]
AlphaFold Q7TRC3
Predicted Effect probably benign
Transcript: ENSMUST00000076542
AA Change: C111S

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000075857
Gene: ENSMUSG00000063225
AA Change: C111S

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.2e-42 PFAM
Pfam:7tm_1 41 289 3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213750
Predicted Effect probably benign
Transcript: ENSMUST00000215461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217596
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,211,228 (GRCm39) V126I probably benign Het
Aasdh A C 5: 77,024,114 (GRCm39) Y179* probably null Het
Afp A G 5: 90,652,254 (GRCm39) Y415C probably damaging Het
Aldh5a1 G T 13: 25,097,856 (GRCm39) T393K probably benign Het
Arhgef26 T C 3: 62,247,146 (GRCm39) S77P probably benign Het
Axl A G 7: 25,486,712 (GRCm39) probably benign Het
Card10 A G 15: 78,664,675 (GRCm39) probably null Het
Ccdc71l G A 12: 32,429,251 (GRCm39) S90N probably damaging Het
Cebpa A T 7: 34,819,624 (GRCm39) T261S probably benign Het
Cnmd T C 14: 79,879,481 (GRCm39) E219G probably benign Het
Cntln T A 4: 84,986,062 (GRCm39) L1010H probably damaging Het
Cul9 A G 17: 46,831,394 (GRCm39) probably benign Het
Cyld A G 8: 89,456,387 (GRCm39) E479G probably benign Het
Dmp1 A G 5: 104,360,092 (GRCm39) E256G probably benign Het
Dnmt1 T C 9: 20,822,846 (GRCm39) D1140G probably damaging Het
Drd2 A C 9: 49,318,374 (GRCm39) M439L probably benign Het
Drd3 G A 16: 43,643,077 (GRCm39) V438M probably damaging Het
Dyrk3 A G 1: 131,057,858 (GRCm39) I70T probably benign Het
Fbxo38 T C 18: 62,639,057 (GRCm39) K1082E probably damaging Het
Fbxw10 A C 11: 62,750,671 (GRCm39) D428A probably damaging Het
Fmn1 T A 2: 113,538,198 (GRCm39) probably benign Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Gda T A 19: 21,402,901 (GRCm39) I82F probably damaging Het
Gpatch4 T A 3: 87,958,583 (GRCm39) H22Q probably damaging Het
Gpr55 A G 1: 85,869,225 (GRCm39) F119L probably benign Het
Gtf2i A T 5: 134,290,723 (GRCm39) L425* probably null Het
Knstrn T A 2: 118,661,461 (GRCm39) probably benign Het
Lipo2 T A 19: 33,724,335 (GRCm39) I144L probably benign Het
Lrp1 T C 10: 127,377,463 (GRCm39) probably null Het
Mtmr14 T C 6: 113,243,213 (GRCm39) probably benign Het
Nsmce4a A T 7: 130,135,536 (GRCm39) S345R probably benign Het
Oacyl T A 18: 65,875,290 (GRCm39) V385D probably damaging Het
Or6k8-ps1 G A 1: 173,979,696 (GRCm39) A205T probably benign Het
Phlpp2 T C 8: 110,603,603 (GRCm39) S55P probably benign Het
Pkhd1l1 T A 15: 44,390,150 (GRCm39) V1422E possibly damaging Het
Plcd3 T G 11: 102,971,013 (GRCm39) H181P probably benign Het
Psmc5 G A 11: 106,151,990 (GRCm39) probably null Het
Psmd11 T C 11: 80,361,515 (GRCm39) probably benign Het
Rab39 T C 9: 53,598,016 (GRCm39) Y83C probably damaging Het
Ric8a A G 7: 140,440,806 (GRCm39) E93G probably damaging Het
Rtp3 T C 9: 110,816,152 (GRCm39) E133G possibly damaging Het
Serpina1e A C 12: 103,915,363 (GRCm39) L281R probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Tent5c A G 3: 100,379,686 (GRCm39) Y357H probably benign Het
Tmem63a A T 1: 180,788,659 (GRCm39) E332V probably benign Het
Tnk1 T C 11: 69,745,990 (GRCm39) T312A probably damaging Het
Traf3ip3 G T 1: 192,877,119 (GRCm39) probably benign Het
Trappc11 A G 8: 47,980,014 (GRCm39) V174A possibly damaging Het
Vmn1r174 G A 7: 23,453,622 (GRCm39) R96H probably benign Het
Vmn1r7 T A 6: 57,001,450 (GRCm39) Y270F possibly damaging Het
Vmn2r12 A G 5: 109,240,714 (GRCm39) V133A probably benign Het
Vmn2r18 T A 5: 151,485,988 (GRCm39) E502V probably damaging Het
Wipf3 C A 6: 54,462,348 (GRCm39) P186Q probably damaging Het
Yipf5 A T 18: 40,345,215 (GRCm39) M55K probably benign Het
Zbtb7a G A 10: 80,979,820 (GRCm39) V5M probably damaging Het
Zfy1 G T Y: 726,040 (GRCm39) S575Y probably damaging Het
Other mutations in Or8b52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Or8b52 APN 9 38,576,289 (GRCm39) missense probably benign
IGL02704:Or8b52 APN 9 38,577,063 (GRCm39) missense possibly damaging 0.84
R1575:Or8b52 UTSW 9 38,576,573 (GRCm39) missense probably damaging 1.00
R1681:Or8b52 UTSW 9 38,576,616 (GRCm39) missense probably benign
R2941:Or8b52 UTSW 9 38,576,322 (GRCm39) missense probably damaging 0.98
R3083:Or8b52 UTSW 9 38,576,912 (GRCm39) missense probably damaging 0.99
R4450:Or8b52 UTSW 9 38,577,050 (GRCm39) missense probably benign 0.17
R4755:Or8b52 UTSW 9 38,577,128 (GRCm39) missense probably benign
R4774:Or8b52 UTSW 9 38,576,519 (GRCm39) missense probably benign 0.21
R5322:Or8b52 UTSW 9 38,576,502 (GRCm39) missense probably benign 0.24
R5577:Or8b52 UTSW 9 38,576,297 (GRCm39) missense possibly damaging 0.49
R6101:Or8b52 UTSW 9 38,576,916 (GRCm39) missense probably damaging 0.99
R6105:Or8b52 UTSW 9 38,576,916 (GRCm39) missense probably damaging 0.99
R7084:Or8b52 UTSW 9 38,576,565 (GRCm39) missense probably benign 0.04
R8048:Or8b52 UTSW 9 38,577,108 (GRCm39) missense probably benign 0.03
R8280:Or8b52 UTSW 9 38,576,783 (GRCm39) missense probably damaging 1.00
R8676:Or8b52 UTSW 9 38,577,064 (GRCm39) missense probably benign 0.02
R8924:Or8b52 UTSW 9 38,576,780 (GRCm39) missense probably damaging 1.00
R9087:Or8b52 UTSW 9 38,576,711 (GRCm39) missense probably damaging 1.00
R9117:Or8b52 UTSW 9 38,577,106 (GRCm39) missense probably benign 0.03
R9220:Or8b52 UTSW 9 38,576,803 (GRCm39) nonsense probably null
R9317:Or8b52 UTSW 9 38,576,655 (GRCm39) missense probably benign 0.00
R9318:Or8b52 UTSW 9 38,576,580 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GGCATCACAGAAGGTCAGTCTAAGC -3'
(R):5'- TGTTTCTGGCAATGTACCTGGTCAC -3'

Sequencing Primer
(F):5'- CATGCAAGCAGTGTGAGCTAC -3'
(R):5'- AATGTACCTGGTCACTGCATTG -3'
Posted On 2013-06-12