Incidental Mutation 'R0314:Or52a5b'
ID 25375
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 038524-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0314 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103416484-103420801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103417388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 72 (D72G)
Ref Sequence ENSEMBL: ENSMUSP00000102491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106878]
AlphaFold E9Q7C5
Predicted Effect probably damaging
Transcript: ENSMUST00000106878
AA Change: D72G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102491
Gene: ENSMUSG00000058662
AA Change: D72G

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
Meta Mutation Damage Score 0.1688 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.9%
  • 20x: 88.7%
Validation Efficiency 100% (41/41)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arih2 T C 9: 108,485,878 (GRCm39) N345D probably damaging Het
Ascc3 C T 10: 50,514,095 (GRCm39) S298L possibly damaging Het
Cacna1e A G 1: 154,317,997 (GRCm39) Y1462H probably damaging Het
Car9 T C 4: 43,509,212 (GRCm39) probably null Het
Cenpc1 A T 5: 86,185,230 (GRCm39) M427K probably benign Het
Chl1 T A 6: 103,624,262 (GRCm39) C57S probably damaging Het
Cntn3 T C 6: 102,397,342 (GRCm39) Y77C probably damaging Het
Cobll1 T C 2: 64,919,865 (GRCm39) K1187E possibly damaging Het
Fkbpl C T 17: 34,865,026 (GRCm39) H265Y possibly damaging Het
Fmo1 T G 1: 162,687,031 (GRCm39) E32A probably damaging Het
Fnip2 G A 3: 79,388,496 (GRCm39) T715I probably damaging Het
Fzd6 T A 15: 38,889,128 (GRCm39) I82K possibly damaging Het
Grm5 T C 7: 87,252,163 (GRCm39) S138P probably damaging Het
Klra5 T C 6: 129,880,553 (GRCm39) Y115C probably damaging Het
Lgr4 T C 2: 109,821,438 (GRCm39) probably benign Het
Limd1 T G 9: 123,345,892 (GRCm39) I557S probably benign Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Neb A T 2: 52,133,343 (GRCm39) D3398E probably benign Het
Nup155 T C 15: 8,176,736 (GRCm39) S1005P probably benign Het
Or2v2 A T 11: 49,004,519 (GRCm39) D11E possibly damaging Het
Pebp4 G T 14: 70,297,103 (GRCm39) S214I possibly damaging Het
Pex26 T C 6: 121,161,443 (GRCm39) probably null Het
Rbbp8 A T 18: 11,848,875 (GRCm39) Q230L probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo2 G A 16: 73,753,525 (GRCm39) T784M probably damaging Het
Slc5a1 T C 5: 33,303,995 (GRCm39) I270T probably benign Het
Spag4 C T 2: 155,909,229 (GRCm39) probably benign Het
Stt3a T C 9: 36,660,841 (GRCm39) probably benign Het
Svep1 C T 4: 58,096,331 (GRCm39) E1430K possibly damaging Het
Timd5 G A 11: 46,419,364 (GRCm39) C60Y probably damaging Het
Uba6 A T 5: 86,265,946 (GRCm39) V956E probably damaging Het
Ube2j1 T A 4: 33,043,991 (GRCm39) probably benign Het
Ubr5 A G 15: 37,997,431 (GRCm39) S1741P probably damaging Het
Vmn2r1 A G 3: 63,993,980 (GRCm39) T109A probably damaging Het
Vmn2r60 T C 7: 41,784,985 (GRCm39) probably benign Het
Vstm2a A G 11: 16,318,388 (GRCm39) probably benign Het
Zdhhc20 T A 14: 58,094,076 (GRCm39) K195N probably damaging Het
Zfp683 A G 4: 133,786,052 (GRCm39) Y393C probably benign Het
Zzz3 T C 3: 152,133,085 (GRCm39) S48P probably benign Het
Other mutations in Or52a5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03381:Or52a5b APN 7 103,417,044 (GRCm39) missense probably benign 0.00
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
R9536:Or52a5b UTSW 7 103,416,779 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGATAGCCACATAGCGATCCAG -3'
(R):5'- AGCAGCAATACCGCTACAGCTTTC -3'

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