Incidental Mutation 'R5353:Or52b2'
ID 423902
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 042932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R5353 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104985953-104986921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104986324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 200 (Y200H)
Ref Sequence ENSEMBL: ENSMUSP00000150297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057528] [ENSMUST00000211006] [ENSMUST00000213290] [ENSMUST00000216230]
AlphaFold Q8VGW5
Predicted Effect probably damaging
Transcript: ENSMUST00000057528
AA Change: Y200H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061078
Gene: ENSMUSG00000043948
AA Change: Y200H

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 damaging
Transcript: ENSMUST00000213290
AA Change: Y200H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216230
Meta Mutation Damage Score 0.4993 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,934,470 (GRCm39) S649P probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Adamts1 T A 16: 85,599,496 (GRCm39) M35L probably benign Het
Adgrg3 A T 8: 95,762,556 (GRCm39) H202L probably damaging Het
Anln G T 9: 22,271,813 (GRCm39) R681S probably damaging Het
Aprt A T 8: 123,302,147 (GRCm39) M1K probably null Het
Arid3b G T 9: 57,702,320 (GRCm39) probably null Het
Cbl A G 9: 44,084,620 (GRCm39) F172L probably damaging Het
Cd109 G T 9: 78,617,521 (GRCm39) V1340L probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Chrm3 A G 13: 9,928,593 (GRCm39) Y148H probably damaging Het
Cog7 A C 7: 121,540,470 (GRCm39) probably null Het
Cpsf1 A T 15: 76,486,771 (GRCm39) I255N probably damaging Het
Crebzf G A 7: 90,092,622 (GRCm39) G134R probably damaging Het
Crybg1 T C 10: 43,849,661 (GRCm39) S1705G probably damaging Het
Dock6 A T 9: 21,726,082 (GRCm39) H1409Q probably benign Het
Fank1 A G 7: 133,478,632 (GRCm39) D232G probably damaging Het
Fat1 G T 8: 45,489,168 (GRCm39) V3480L probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmn2 G T 1: 174,330,572 (GRCm39) G321W unknown Het
Greb1 A T 12: 16,738,567 (GRCm39) Y1465* probably null Het
Hdac9 G A 12: 34,443,392 (GRCm39) Q330* probably null Het
Kcnt2 C T 1: 140,354,639 (GRCm39) T298I probably damaging Het
Knl1 A G 2: 118,901,464 (GRCm39) D1055G probably benign Het
Mroh2b T C 15: 4,946,660 (GRCm39) S487P probably damaging Het
Naa38 G A 11: 69,287,408 (GRCm39) V110I probably benign Het
Nkd2 T C 13: 73,969,557 (GRCm39) H303R probably damaging Het
Nr1d2 A G 14: 18,222,125 (GRCm38) C49R probably benign Het
Or4c111 A G 2: 88,844,099 (GRCm39) V103A probably benign Het
Ovch2 T A 7: 107,393,631 (GRCm39) E165V probably damaging Het
Phyh A T 2: 4,947,012 (GRCm39) probably benign Het
Pik3r4 G A 9: 105,545,137 (GRCm39) probably null Het
Ppip5k1 A C 2: 121,142,201 (GRCm39) V1416G probably benign Het
Ppm1b T C 17: 85,301,537 (GRCm39) V139A probably benign Het
Ppp1r12a T G 10: 108,097,077 (GRCm39) probably null Het
Pramel20 A G 4: 143,297,807 (GRCm39) T76A probably benign Het
Psmc5 G T 11: 106,152,327 (GRCm39) A115S probably damaging Het
Ptpn5 T A 7: 46,731,642 (GRCm39) E409V probably benign Het
Ptprg T A 14: 11,554,235 (GRCm38) probably benign Het
Qrich1 G T 9: 108,422,164 (GRCm39) V593F probably damaging Het
Rbbp9 T C 2: 144,385,741 (GRCm39) I175V probably benign Het
Selenot T C 3: 58,493,387 (GRCm39) F88S possibly damaging Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Spred2 A G 11: 19,968,155 (GRCm39) D208G possibly damaging Het
Surf1 T C 2: 26,804,204 (GRCm39) T197A probably benign Het
Taco1 G A 11: 105,963,539 (GRCm39) probably null Het
Tas2r109 A G 6: 132,957,594 (GRCm39) V112A possibly damaging Het
Tpr C T 1: 150,321,675 (GRCm39) R3C probably damaging Het
Uggt2 A G 14: 119,319,182 (GRCm39) I280T probably benign Het
Yipf2 A G 9: 21,503,228 (GRCm39) Y80H possibly damaging Het
Zscan12 T C 13: 21,548,178 (GRCm39) V120A possibly damaging Het
Other mutations in Or52b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Or52b2 APN 7 104,986,350 (GRCm39) missense probably damaging 1.00
R0178:Or52b2 UTSW 7 104,986,129 (GRCm39) missense probably benign 0.07
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
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'- GGAATGTTTCTCCCAAAGCG -3'
(R):5'- TAACATGGTCCACAGTTGGG -3'

Sequencing Primer
(F):5'- CCAAAGCGATGGGTCAGTAAAG -3'
(R):5'- GAGGATTGCTCTAGCCATTGTCATC -3'
Posted On 2016-08-04