Incidental Mutation 'R9536:Or52a5b'
ID 719695
Institutional Source Beutler Lab
Gene Symbol Or52a5b
Ensembl Gene ENSMUSG00000058662
Gene Name olfactory receptor family 52 subfamily A member 5B
Synonyms MOR22-2, GA_x6K02T2PBJ9-6494485-6493535, 3'[b]3, Olfr69
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R9536 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103416484-103420801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103416779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 275 (V275E)
Ref Sequence ENSEMBL: ENSMUSP00000102491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106878]
AlphaFold E9Q7C5
Predicted Effect probably damaging
Transcript: ENSMUST00000106878
AA Change: V275E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102491
Gene: ENSMUSG00000058662
AA Change: V275E

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 1.9e-101 PFAM
Pfam:7TM_GPCR_Srx 34 237 1.1e-7 PFAM
Pfam:7TM_GPCR_Srsx 37 260 3.6e-7 PFAM
Pfam:7tm_1 43 295 6.6e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,182,623 (GRCm39) L259F probably damaging Het
Adamts6 A C 13: 104,489,313 (GRCm39) I389L probably benign Het
Adcy7 A T 8: 89,053,026 (GRCm39) E974V possibly damaging Het
Agbl3 G T 6: 34,823,861 (GRCm39) R847M probably benign Het
Ank2 T G 3: 126,736,031 (GRCm39) Q3284H unknown Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Bod1l C A 5: 41,974,305 (GRCm39) E2336D probably benign Het
Ccdc18 T C 5: 108,286,792 (GRCm39) S109P probably benign Het
Ccdc62 T C 5: 124,092,749 (GRCm39) F578S probably damaging Het
Chid1 A G 7: 141,093,755 (GRCm39) V287A probably benign Het
Cyp26b1 T G 6: 84,553,999 (GRCm39) D206A probably benign Het
Dennd6a A T 14: 26,329,758 (GRCm39) K334* probably null Het
Drd3 T C 16: 43,637,368 (GRCm39) V189A probably damaging Het
Fmn1 T C 2: 113,309,262 (GRCm39) I728T unknown Het
Frem3 G A 8: 81,342,048 (GRCm39) G1447D probably benign Het
Gck T C 11: 5,852,307 (GRCm39) D344G possibly damaging Het
Gimap9 T A 6: 48,654,416 (GRCm39) M1K probably null Het
Glb1l3 T C 9: 26,770,929 (GRCm39) T46A probably benign Het
Gm13941 T C 2: 110,918,861 (GRCm39) T198A unknown Het
Gphn T G 12: 78,609,636 (GRCm39) S327A possibly damaging Het
Hmcn2 T C 2: 31,335,130 (GRCm39) S4356P possibly damaging Het
Iqgap1 A T 7: 80,458,840 (GRCm39) M26K Het
Iqsec1 A G 6: 90,666,659 (GRCm39) Y489H probably damaging Het
Lars1 T A 18: 42,376,046 (GRCm39) R255* probably null Het
Lrp5 G A 19: 3,672,672 (GRCm39) H546Y probably damaging Het
Or2c1 T A 16: 3,657,438 (GRCm39) N200K possibly damaging Het
Or5p61 T C 7: 107,759,075 (GRCm39) I2V probably benign Het
Or6c33 G A 10: 129,853,345 (GRCm39) M38I probably benign Het
Osbpl6 T A 2: 76,416,554 (GRCm39) C691S probably benign Het
Pcbp3 G A 10: 76,599,225 (GRCm39) L304F possibly damaging Het
Pramel34 G C 5: 93,784,289 (GRCm39) L392V probably damaging Het
Rpl5 T A 5: 108,051,721 (GRCm39) S172T probably benign Het
Rps2 C T 17: 24,940,851 (GRCm39) H297Y unknown Het
Scp2 A T 4: 107,928,532 (GRCm39) V386E possibly damaging Het
Sh2d5 T A 4: 137,986,420 (GRCm39) V381E probably benign Het
Styxl1 T C 5: 135,776,634 (GRCm39) E318G probably benign Het
Tat T A 8: 110,722,711 (GRCm39) C258S probably benign Het
Thbs2 T C 17: 14,910,147 (GRCm39) N151D probably damaging Het
Thbs3 A T 3: 89,124,044 (GRCm39) I46F possibly damaging Het
Trpm6 A T 19: 18,764,123 (GRCm39) D243V probably damaging Het
Ttn T A 2: 76,739,017 (GRCm39) N3887Y unknown Het
Ubap2 A G 4: 41,195,661 (GRCm39) S1020P probably benign Het
Ubtfl1 A T 9: 18,320,537 (GRCm39) M22L probably benign Het
V1rd19 A T 7: 23,703,253 (GRCm39) I240F probably damaging Het
Vwa5b2 C T 16: 20,414,449 (GRCm39) P275L probably damaging Het
Zfp386 G A 12: 116,023,686 (GRCm39) C468Y probably damaging Het
Zfp975 A C 7: 42,312,345 (GRCm39) H89Q probably benign Het
Zfyve26 T A 12: 79,298,046 (GRCm39) N1881I probably benign Het
Other mutations in Or52a5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03381:Or52a5b APN 7 103,417,044 (GRCm39) missense probably benign 0.00
R0314:Or52a5b UTSW 7 103,417,388 (GRCm39) missense probably damaging 1.00
R2158:Or52a5b UTSW 7 103,417,168 (GRCm39) nonsense probably null
R4839:Or52a5b UTSW 7 103,416,961 (GRCm39) missense possibly damaging 0.94
R5574:Or52a5b UTSW 7 103,417,323 (GRCm39) missense possibly damaging 0.96
R6025:Or52a5b UTSW 7 103,417,416 (GRCm39) missense probably benign 0.01
R6581:Or52a5b UTSW 7 103,417,428 (GRCm39) missense probably benign 0.01
R6792:Or52a5b UTSW 7 103,417,346 (GRCm39) missense possibly damaging 0.75
R7121:Or52a5b UTSW 7 103,416,940 (GRCm39) nonsense probably null
R7178:Or52a5b UTSW 7 103,417,182 (GRCm39) nonsense probably null
R7378:Or52a5b UTSW 7 103,417,137 (GRCm39) missense probably benign 0.01
R7449:Or52a5b UTSW 7 103,417,026 (GRCm39) missense probably benign
R7573:Or52a5b UTSW 7 103,416,677 (GRCm39) missense probably benign
R9206:Or52a5b UTSW 7 103,417,478 (GRCm39) missense probably benign 0.00
R9208:Or52a5b UTSW 7 103,417,478 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATTCACATGTTGCCACACAC -3'
(R):5'- GCCATCTTAGGGTTTGACATAGTC -3'

Sequencing Primer
(F):5'- GCCACACACTTTCTTATCTGTATAAG -3'
(R):5'- GGGTTTGACATAGTCTTCATTACC -3'
Posted On 2022-07-18