Incidental Mutation 'R0178:Or52b2'
ID 23765
Institutional Source Beutler Lab
Gene Symbol Or52b2
Ensembl Gene ENSMUSG00000043948
Gene Name olfactory receptor family 52 subfamily B member 2
Synonyms MOR31-6, Olfr691, GA_x6K02T2PBJ9-7966695-7965727
MMRRC Submission 038446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R0178 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 104985953-104986921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 104986129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 265 (R265C)
Ref Sequence ENSEMBL: ENSMUSP00000150297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057528] [ENSMUST00000211006] [ENSMUST00000213290] [ENSMUST00000216230]
AlphaFold Q8VGW5
Predicted Effect probably benign
Transcript: ENSMUST00000057528
AA Change: R265C

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000061078
Gene: ENSMUSG00000043948
AA Change: R265C

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1e-112 PFAM
Pfam:7TM_GPCR_Srsx 37 291 1.3e-10 PFAM
Pfam:7tm_1 43 294 3.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211006
Predicted Effect probably benign
Transcript: ENSMUST00000213290
AA Change: R265C

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000216230
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,533,435 (GRCm39) N111T probably benign Het
Abca1 T C 4: 53,081,953 (GRCm39) D769G possibly damaging Het
Adcy6 G T 15: 98,502,096 (GRCm39) Q173K probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Arfgap2 C T 2: 91,097,706 (GRCm39) A141V probably benign Het
Asb2 G A 12: 103,291,811 (GRCm39) P324L probably damaging Het
Brd10 A G 19: 29,732,188 (GRCm39) S342P probably damaging Het
Cacna1g G A 11: 94,354,309 (GRCm39) T202I probably damaging Het
Capn5 A G 7: 97,782,098 (GRCm39) L214P probably damaging Het
Cdh20 A T 1: 104,902,776 (GRCm39) D489V possibly damaging Het
Cers5 C A 15: 99,644,905 (GRCm39) probably benign Het
Chct1 A G 11: 85,069,264 (GRCm39) H94R probably benign Het
Chrnb3 T A 8: 27,883,392 (GRCm39) V111D probably damaging Het
Clec2m T C 6: 129,303,786 (GRCm39) R60G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cyp2r1 T C 7: 114,149,643 (GRCm39) E248G probably damaging Het
Dnaaf11 A C 15: 66,325,950 (GRCm39) D208E probably benign Het
Dnmt3b A G 2: 153,516,938 (GRCm39) T536A probably benign Het
Eef2 G A 10: 81,016,126 (GRCm39) V496M possibly damaging Het
Fam118a T C 15: 84,930,081 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,509,763 (GRCm39) probably null Het
Fhad1 A C 4: 141,682,651 (GRCm39) F497V probably benign Het
Gbe1 G A 16: 70,275,274 (GRCm39) G358D probably damaging Het
Gdf10 A G 14: 33,646,058 (GRCm39) D69G probably damaging Het
Ggt6 A G 11: 72,327,644 (GRCm39) H150R possibly damaging Het
Gm45713 A T 7: 44,783,882 (GRCm39) L110Q probably damaging Het
Gm9847 T C 12: 14,544,649 (GRCm39) noncoding transcript Het
Grwd1 T C 7: 45,480,054 (GRCm39) E51G probably damaging Het
Gvin3 A T 7: 106,201,028 (GRCm39) Y739N probably damaging Het
H13 A G 2: 152,522,987 (GRCm39) Y100C probably damaging Het
Kcne1 A C 16: 92,145,697 (GRCm39) M49R probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Knl1 T A 2: 118,888,886 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,565 (GRCm39) I150M probably damaging Het
Ldb2 A T 5: 44,630,841 (GRCm39) V300E probably damaging Het
Lrp1b A T 2: 40,615,919 (GRCm39) C3606S probably damaging Het
Lrrc42 A G 4: 107,104,917 (GRCm39) I16T probably damaging Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Myot T C 18: 44,470,053 (GRCm39) F10S probably damaging Het
Nrg3 A T 14: 38,098,413 (GRCm39) H480Q probably damaging Het
Or5ac23 A T 16: 59,149,783 (GRCm39) F30I probably damaging Het
Prl2c5 A T 13: 13,366,390 (GRCm39) D220V probably damaging Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Serpina6 A G 12: 103,613,172 (GRCm39) I376T probably damaging Het
Sh2d2a A T 3: 87,756,730 (GRCm39) T192S probably benign Het
Slc27a1 T C 8: 72,037,106 (GRCm39) Y417H possibly damaging Het
Slc6a1 T G 6: 114,281,813 (GRCm39) I32S possibly damaging Het
Sntb1 T C 15: 55,769,540 (GRCm39) T150A probably damaging Het
Tanc1 T A 2: 59,665,791 (GRCm39) C1183* probably null Het
Tmprss7 C A 16: 45,511,206 (GRCm39) W57C probably damaging Het
Ubac1 A T 2: 25,911,440 (GRCm39) V36E possibly damaging Het
Zfc3h1 T C 10: 115,242,630 (GRCm39) probably benign Het
Zfp644 C T 5: 106,784,771 (GRCm39) C592Y probably damaging Het
Other mutations in Or52b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Or52b2 APN 7 104,986,350 (GRCm39) missense probably damaging 1.00
R0344:Or52b2 UTSW 7 104,986,814 (GRCm39) missense probably benign
R0931:Or52b2 UTSW 7 104,986,736 (GRCm39) nonsense probably null
R1434:Or52b2 UTSW 7 104,986,468 (GRCm39) missense probably benign
R1482:Or52b2 UTSW 7 104,986,463 (GRCm39) missense probably damaging 0.97
R2189:Or52b2 UTSW 7 104,986,809 (GRCm39) missense probably benign
R3836:Or52b2 UTSW 7 104,986,417 (GRCm39) missense probably benign 0.05
R5353:Or52b2 UTSW 7 104,986,324 (GRCm39) missense probably damaging 1.00
R6649:Or52b2 UTSW 7 104,986,914 (GRCm39) missense probably benign 0.00
R6715:Or52b2 UTSW 7 104,986,539 (GRCm39) missense probably damaging 1.00
R7462:Or52b2 UTSW 7 104,986,707 (GRCm39) missense probably damaging 1.00
R8822:Or52b2 UTSW 7 104,986,809 (GRCm39) missense probably benign
R9286:Or52b2 UTSW 7 104,985,971 (GRCm39) missense probably damaging 0.96
R9616:Or52b2 UTSW 7 104,986,520 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGACCAGTCATCCCAAAGGTGAAG -3'
(R):5'- CCCCATTCCTACTGTGAGCACATTG -3'

Sequencing Primer
(F):5'- GAACAACACAGAGTCTTGATGTCC -3'
(R):5'- CCGCTTAGCTTGTGCAGATATAAC -3'
Posted On 2013-04-16