Incidental Mutation 'R1199:Or52a5'
ID 101208
Institutional Source Beutler Lab
Gene Symbol Or52a5
Ensembl Gene ENSMUSG00000061626
Gene Name olfactory receptor family 52 subfamily A member 5
Synonyms Olfr68, MOR22-3, GA_x6K02T2PBJ9-6504436-6503489, 3'[b]2
MMRRC Submission 039269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R1199 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103426603-103427550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103427192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 120 (M120K)
Ref Sequence ENSEMBL: ENSMUSP00000150493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072513] [ENSMUST00000216811]
AlphaFold E9PYY2
Predicted Effect probably damaging
Transcript: ENSMUST00000072513
AA Change: M120K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072329
Gene: ENSMUSG00000061626
AA Change: M120K

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 3e-101 PFAM
Pfam:7TM_GPCR_Srx 34 237 4.5e-7 PFAM
Pfam:7TM_GPCR_Srsx 37 264 1.7e-6 PFAM
Pfam:7tm_1 43 295 2.3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216811
AA Change: M120K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7165 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 96% (55/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,270,676 (GRCm39) H80L possibly damaging Het
A1bg A T 15: 60,791,484 (GRCm39) probably null Het
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
Agrn T A 4: 156,256,756 (GRCm39) Y1283F probably benign Het
Akap6 T C 12: 52,842,973 (GRCm39) V107A probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Btnl9 A T 11: 49,071,574 (GRCm39) V83E probably damaging Het
Camk2a T A 18: 61,085,396 (GRCm39) C131* probably null Het
Ccdc14 C T 16: 34,544,198 (GRCm39) T852M probably damaging Het
Cntn4 T C 6: 106,330,558 (GRCm39) probably benign Het
Cp T G 3: 20,031,316 (GRCm39) S585R probably damaging Het
Cpt1b G A 15: 89,303,213 (GRCm39) A614V probably benign Het
Crygn T C 5: 24,956,146 (GRCm39) Y153C probably damaging Het
Dennd1a A T 2: 37,851,728 (GRCm39) D53E probably damaging Het
Deptor T C 15: 55,115,406 (GRCm39) C357R probably benign Het
Dnajc28 C A 16: 91,415,530 (GRCm39) probably benign Het
Eml6 G A 11: 29,705,044 (GRCm39) A1500V possibly damaging Het
Fgd5 T A 6: 91,963,959 (GRCm39) L64Q possibly damaging Het
Fgfbp1 A G 5: 44,136,939 (GRCm39) Y118H probably damaging Het
Ftcd G A 10: 76,415,653 (GRCm39) R135H probably damaging Het
Gm5174 A T 10: 86,493,189 (GRCm39) noncoding transcript Het
Gpr37l1 A T 1: 135,094,710 (GRCm39) L178Q probably damaging Het
Gtf2ird1 A G 5: 134,439,918 (GRCm39) V104A possibly damaging Het
Irs1 T A 1: 82,267,347 (GRCm39) S290C probably damaging Het
Kel C T 6: 41,665,525 (GRCm39) V532I possibly damaging Het
Kif1c A G 11: 70,599,427 (GRCm39) E442G possibly damaging Het
Klhdc10 T A 6: 30,449,493 (GRCm39) V185D probably damaging Het
Lpp C T 16: 24,500,610 (GRCm39) R141C probably damaging Het
Or5m13 A G 2: 85,748,379 (GRCm39) I37V probably benign Het
Pcnx2 G T 8: 126,614,053 (GRCm39) P466H possibly damaging Het
Pcsk1 A T 13: 75,244,532 (GRCm39) probably benign Het
Pkd2l2 T C 18: 34,571,269 (GRCm39) probably null Het
Pomt1 A G 2: 32,140,504 (GRCm39) N454S probably benign Het
Samhd1 A T 2: 156,951,381 (GRCm39) I452N probably damaging Het
Sez6 A G 11: 77,844,711 (GRCm39) Q178R probably benign Het
Slc25a44 A G 3: 88,328,293 (GRCm39) V66A probably damaging Het
Slc46a2 T C 4: 59,914,189 (GRCm39) T245A probably benign Het
Slc4a4 G A 5: 89,363,653 (GRCm39) probably null Het
Spata6 T A 4: 111,656,342 (GRCm39) C329S possibly damaging Het
Srrm2 A T 17: 24,036,725 (GRCm39) probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Svil T A 18: 5,059,217 (GRCm39) probably benign Het
Tenm3 G T 8: 48,688,617 (GRCm39) S2323R probably damaging Het
Tsc1 G A 2: 28,555,638 (GRCm39) R245Q probably damaging Het
Ttn A G 2: 76,739,100 (GRCm39) V3813A probably benign Het
Ttn G A 2: 76,780,388 (GRCm39) T1121M possibly damaging Het
Ush2a G A 1: 188,491,992 (GRCm39) V3094I probably benign Het
Vcan A G 13: 89,827,913 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,828 (GRCm39) L3Q probably damaging Het
Vmn1r60 A C 7: 5,547,971 (GRCm39) V43G probably damaging Het
Vmn2r110 A G 17: 20,803,525 (GRCm39) I350T probably benign Het
Vmn2r86 T A 10: 130,284,443 (GRCm39) probably benign Het
Xrn1 A G 9: 95,863,814 (GRCm39) probably benign Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly damaging Het
Other mutations in Or52a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Or52a5 APN 7 103,427,448 (GRCm39) missense probably benign
IGL03310:Or52a5 APN 7 103,426,634 (GRCm39) missense probably benign 0.04
R0135:Or52a5 UTSW 7 103,426,970 (GRCm39) missense probably damaging 0.99
R0462:Or52a5 UTSW 7 103,426,770 (GRCm39) missense probably benign 0.37
R0966:Or52a5 UTSW 7 103,426,656 (GRCm39) missense probably damaging 1.00
R1288:Or52a5 UTSW 7 103,427,249 (GRCm39) missense possibly damaging 0.94
R1597:Or52a5 UTSW 7 103,427,267 (GRCm39) missense probably benign
R4631:Or52a5 UTSW 7 103,426,682 (GRCm39) missense probably damaging 1.00
R4754:Or52a5 UTSW 7 103,426,875 (GRCm39) missense probably benign 0.00
R5184:Or52a5 UTSW 7 103,426,611 (GRCm39) missense probably benign 0.00
R5654:Or52a5 UTSW 7 103,427,182 (GRCm39) missense probably damaging 1.00
R7994:Or52a5 UTSW 7 103,426,607 (GRCm39) missense probably benign 0.05
R8026:Or52a5 UTSW 7 103,427,547 (GRCm39) missense probably benign
R8190:Or52a5 UTSW 7 103,426,802 (GRCm39) missense probably damaging 1.00
R8502:Or52a5 UTSW 7 103,426,968 (GRCm39) missense probably benign
R8815:Or52a5 UTSW 7 103,427,063 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GCTTTGAATCGAGCCTCCTTCTGG -3'
(R):5'- AGTCACAGACATTGCCCTTAGCAC -3'

Sequencing Primer
(F):5'- GAGCTGCCAGTTTCACAATG -3'
(R):5'- CACATGCATTCTTCCCAAAATGTTG -3'
Posted On 2014-01-15