Incidental Mutation 'R3836:Or52b2'
ID 275641
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 040891-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R3836 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104985953-104986921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 104986417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 169 (P169S)
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: P169S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000061078
Gene: ENSMUSG00000043948
AA Change: P169S

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: P169S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000216230
Meta Mutation Damage Score 0.0966 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028I16Rik A G 10: 82,648,219 (GRCm39) noncoding transcript Het
Aasdh A G 5: 77,026,315 (GRCm39) V903A probably benign Het
Afg2a T A 3: 37,487,792 (GRCm39) Y428N possibly damaging Het
Ankrd6 T A 4: 32,817,531 (GRCm39) D271V probably damaging Het
Ano10 C T 9: 122,092,829 (GRCm39) V167M possibly damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
AW551984 T C 9: 39,509,204 (GRCm39) probably benign Het
Bub1 G T 2: 127,656,806 (GRCm39) P442Q probably damaging Het
Clstn1 A G 4: 149,722,790 (GRCm39) E476G probably damaging Het
Comp A G 8: 70,826,509 (GRCm39) D28G probably benign Het
Crym A G 7: 119,800,439 (GRCm39) V61A probably benign Het
Dock4 G T 12: 40,844,623 (GRCm39) probably null Het
Dtna A T 18: 23,758,159 (GRCm39) Q488L probably damaging Het
Ecel1 A C 1: 87,078,378 (GRCm39) L565R probably damaging Het
Extl2 T C 3: 115,818,006 (GRCm39) I106T probably benign Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Fnbp4 A G 2: 90,577,129 (GRCm39) T154A probably damaging Het
Fsip2 T C 2: 82,781,290 (GRCm39) L32P probably damaging Het
Gldc T A 19: 30,096,075 (GRCm39) probably benign Het
Gm12695 T G 4: 96,650,334 (GRCm39) T171P probably damaging Het
Gm4868 A C 5: 125,925,014 (GRCm39) noncoding transcript Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Gstm5 T C 3: 107,803,678 (GRCm39) I37T probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itga11 G T 9: 62,676,565 (GRCm39) V918L probably benign Het
Itgb2l T A 16: 96,227,367 (GRCm39) M559L probably benign Het
Itih1 T A 14: 30,657,785 (GRCm39) N429Y probably damaging Het
Madd A T 2: 90,984,988 (GRCm39) probably null Het
Map3k11 A G 19: 5,740,831 (GRCm39) E186G possibly damaging Het
Mbl2 T C 19: 30,216,914 (GRCm39) F242S probably damaging Het
Mcph1 A G 8: 18,672,675 (GRCm39) T102A possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Mkln1 A G 6: 31,445,271 (GRCm39) D389G probably damaging Het
Mmrn1 G A 6: 60,921,831 (GRCm39) S96N probably benign Het
Myd88 A G 9: 119,167,259 (GRCm39) probably benign Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Nprl3 C T 11: 32,183,082 (GRCm39) E502K probably damaging Het
Nudt5 T A 2: 5,871,158 (GRCm39) probably null Het
Or5h23 A G 16: 58,906,586 (GRCm39) S87P possibly damaging Het
Or6c69b C T 10: 129,627,039 (GRCm39) V140M probably benign Het
Or8j3 A G 2: 86,029,006 (GRCm39) V30A probably benign Het
Plaa T C 4: 94,475,159 (GRCm39) probably null Het
Ptk2b A G 14: 66,393,791 (GRCm39) L894P probably damaging Het
Rab8b A G 9: 66,755,078 (GRCm39) S183P probably benign Het
Reln A G 5: 22,116,012 (GRCm39) Y2999H probably damaging Het
Rims4 A G 2: 163,760,573 (GRCm39) S11P possibly damaging Het
Scel A G 14: 103,829,822 (GRCm39) K448R possibly damaging Het
Serpinb10 A T 1: 107,463,816 (GRCm39) T33S probably benign Het
Sgip1 A G 4: 102,724,897 (GRCm39) probably null Het
Sv2b A T 7: 74,807,176 (GRCm39) M158K probably damaging Het
Tmem132d A T 5: 127,861,949 (GRCm39) I724N probably damaging Het
Tnrc6c A G 11: 117,614,055 (GRCm39) T738A probably benign Het
Tpbg T C 9: 85,725,167 (GRCm39) probably benign Het
Tubb2a G T 13: 34,259,294 (GRCm39) N165K probably benign Het
Ubtfl1 A T 9: 18,320,533 (GRCm39) E20D possibly damaging Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r25 C A 6: 123,830,044 (GRCm39) D36Y probably damaging Het
Wdhd1 A G 14: 47,482,511 (GRCm39) V946A probably benign Het
Wnk1 T C 6: 119,927,004 (GRCm39) E1265G probably damaging Het
Zmynd8 G A 2: 165,700,019 (GRCm39) T14I probably benign 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
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'- CTCGGAGAATGAGCGAGTAC -3'
(R):5'- AACATTGCCTTTGATGCCTGTG -3'

Sequencing Primer
(F):5'- TGAGCGAGTACGACACAGC -3'
(R):5'- TCCACACAATGTTCGTGGG -3'
Posted On 2015-04-06