Incidental Mutation 'R7043:Or52ab2'
ID 547156
Institutional Source Beutler Lab
Gene Symbol Or52ab2
Ensembl Gene ENSMUSG00000073952
Gene Name olfactory receptor family 52 subfamily AB member 2
Synonyms Olfr597, MOR23-2, GA_x6K02T2PBJ9-6029614-6030561
MMRRC Submission 045142-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7043 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102969620-102970567 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 102970292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098203] [ENSMUST00000214765] [ENSMUST00000216456]
AlphaFold L7N224
Predicted Effect
SMART Domains Protein: ENSMUSP00000095804
Gene: ENSMUSG00000073952
AA Change: Q225K

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 2.2e-89 PFAM
Pfam:7TM_GPCR_Srsx 41 312 5.7e-7 PFAM
Pfam:7tm_1 47 297 3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214765
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,484,474 (GRCm39) L1596P probably damaging Het
Actr3b A G 5: 26,054,936 (GRCm39) M329V probably benign Het
Avpr1a C T 10: 122,285,586 (GRCm39) R293C probably damaging Het
Bdp1 A T 13: 100,215,215 (GRCm39) C390S probably benign Het
C2cd2l A T 9: 44,227,848 (GRCm39) M131K probably damaging Het
Ccna2 T C 3: 36,624,302 (GRCm39) probably benign Het
Cd53 T C 3: 106,670,577 (GRCm39) D152G probably damaging Het
Cdpf1 A T 15: 85,692,485 (GRCm39) V66E probably null Het
Chd9 G T 8: 91,760,843 (GRCm39) probably benign Het
Crybg2 A G 4: 133,818,447 (GRCm39) D1710G probably benign Het
Dst A G 1: 34,296,992 (GRCm39) T5794A probably damaging Het
Eif2s1 G T 12: 78,923,882 (GRCm39) R113L probably damaging Het
Eif5 A G 12: 111,511,030 (GRCm39) D423G probably benign Het
Eri1 A C 8: 35,945,792 (GRCm39) D164E probably damaging Het
F7 A T 8: 13,083,997 (GRCm39) R227S probably benign Het
Gm14496 T G 2: 181,642,120 (GRCm39) I597S possibly damaging Het
Gpr85 T A 6: 13,835,876 (GRCm39) N343Y probably damaging Het
H2-T23 A T 17: 36,342,803 (GRCm39) S112T probably damaging Het
Itga9 C T 9: 118,598,184 (GRCm39) P573S probably damaging Het
Kcnb2 A T 1: 15,383,150 (GRCm39) M159L probably benign Het
Kmt5b T A 19: 3,865,220 (GRCm39) S738R possibly damaging Het
Lrp1b T C 2: 40,812,426 (GRCm39) N2393S possibly damaging Het
Mme T A 3: 63,252,638 (GRCm39) Y427* probably null Het
Naip1 A G 13: 100,563,422 (GRCm39) V581A probably damaging Het
Ndel1 A G 11: 68,713,450 (GRCm39) L329P possibly damaging Het
Nthl1 T G 17: 24,857,644 (GRCm39) V281G probably benign Het
Per2 G T 1: 91,347,130 (GRCm39) H1197Q probably benign Het
Phf8-ps T C 17: 33,284,306 (GRCm39) D832G possibly damaging Het
Plec G A 15: 76,093,328 (GRCm39) probably benign Het
Prpf6 A T 2: 181,291,297 (GRCm39) H704L probably benign Het
Recql5 C T 11: 115,821,502 (GRCm39) probably null Het
Rimbp3 G A 16: 17,028,972 (GRCm39) V799M probably damaging Het
Sema3f C T 9: 107,568,599 (GRCm39) A169T possibly damaging Het
Serpinb9f T C 13: 33,509,970 (GRCm39) I54T possibly damaging Het
Skint5 A T 4: 113,574,304 (GRCm39) L749Q unknown Het
Slc35g3 T C 11: 69,652,476 (GRCm39) D12G probably benign Het
Sptbn1 A G 11: 30,053,323 (GRCm39) V2252A probably benign Het
Stab2 T C 10: 86,706,110 (GRCm39) N1750S probably damaging Het
Supt5 C A 7: 28,019,435 (GRCm39) R543L probably benign Het
Syne1 T C 10: 5,022,193 (GRCm39) E7806G possibly damaging Het
Syt12 T A 19: 4,501,049 (GRCm39) M334L probably benign Het
Tk1 A G 11: 117,706,779 (GRCm39) *234R probably null Het
Trp73 T G 4: 154,151,464 (GRCm39) probably null Het
Ttn A G 2: 76,727,477 (GRCm39) probably benign Het
Vmn2r11 T C 5: 109,200,098 (GRCm39) I452V probably benign Het
Wwox G T 8: 115,406,578 (GRCm39) V190L probably damaging Het
Wwp2 A G 8: 108,184,532 (GRCm39) H80R probably benign Het
Zc3h3 A G 15: 75,681,485 (GRCm39) I532T probably damaging Het
Zfp280d A G 9: 72,226,539 (GRCm39) K328E probably damaging Het
Zfp365 A G 10: 67,745,656 (GRCm39) S41P probably damaging Het
Other mutations in Or52ab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01864:Or52ab2 APN 7 102,970,541 (GRCm39) missense probably benign 0.27
IGL01872:Or52ab2 APN 7 102,970,179 (GRCm39) missense probably benign 0.17
IGL02797:Or52ab2 APN 7 102,970,058 (GRCm39) missense probably benign
IGL02811:Or52ab2 APN 7 102,970,140 (GRCm39) missense probably benign
PIT4131001:Or52ab2 UTSW 7 102,970,076 (GRCm39) nonsense probably null
R1800:Or52ab2 UTSW 7 102,969,621 (GRCm39) start codon destroyed probably null 0.98
R4921:Or52ab2 UTSW 7 102,969,750 (GRCm39) missense probably damaging 1.00
R6288:Or52ab2 UTSW 7 102,970,286 (GRCm39) missense probably damaging 0.97
R6993:Or52ab2 UTSW 7 102,969,998 (GRCm39) unclassified probably benign
R7322:Or52ab2 UTSW 7 102,970,494 (GRCm39) missense
R7472:Or52ab2 UTSW 7 102,969,656 (GRCm39) missense
R7704:Or52ab2 UTSW 7 102,969,978 (GRCm39) missense
R8393:Or52ab2 UTSW 7 102,969,668 (GRCm39) missense
R8418:Or52ab2 UTSW 7 102,970,278 (GRCm39) missense
R8830:Or52ab2 UTSW 7 102,970,212 (GRCm39) missense
R8867:Or52ab2 UTSW 7 102,970,449 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CGAGCGGTAGTACTTGTAGG -3'
(R):5'- CCCGCTTTCGAATGACCATG -3'

Sequencing Primer
(F):5'- CGGTAGTACTTGTAGGCCTGTTACC -3'
(R):5'- CTCCATACACAATAGGGTTGAGAGC -3'
Posted On 2019-05-13