Incidental Mutation 'R7704:Or52ab2'
ID 594186
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 045765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R7704 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102969620-102970567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102969978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 120 (M120K)
Ref Sequence ENSEMBL: ENSMUSP00000150238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098203] [ENSMUST00000214765] [ENSMUST00000216456]
AlphaFold L7N224
Predicted Effect
SMART Domains Protein: ENSMUSP00000095804
Gene: ENSMUSG00000073952
AA Change: M120K

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: 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C A 7: 45,756,068 (GRCm39) W1458L probably damaging Het
Actn4 A T 7: 28,596,467 (GRCm39) I676N possibly damaging Het
Adamts10 T C 17: 33,770,126 (GRCm39) C1002R probably damaging Het
Agbl2 A C 2: 90,619,349 (GRCm39) N58T probably benign Het
Akap12 A T 10: 4,306,082 (GRCm39) D1069V probably damaging Het
Bltp2 C A 11: 78,159,570 (GRCm39) Q540K probably benign Het
Cfap65 T A 1: 74,967,527 (GRCm39) T184S probably benign Het
Chd1 T C 17: 15,987,737 (GRCm39) V1517A probably benign Het
CN725425 T A 15: 91,119,993 (GRCm39) V38D possibly damaging Het
Copg1 T A 6: 87,884,940 (GRCm39) L712Q probably benign Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Ddx21 T C 10: 62,429,865 (GRCm39) Y293C probably damaging Het
Ddx46 C T 13: 55,821,832 (GRCm39) P839S probably benign Het
Dennd5a A G 7: 109,496,174 (GRCm39) V1164A possibly damaging Het
Dync1h1 T A 12: 110,632,200 (GRCm39) I4490N probably damaging Het
Ecm1 A C 3: 95,643,843 (GRCm39) Y236D probably damaging Het
Fat2 T C 11: 55,175,173 (GRCm39) T1847A probably benign Het
Galc T A 12: 98,175,102 (GRCm39) I567L probably benign Het
Gask1a C T 9: 121,780,151 (GRCm39) probably benign Het
H6pd T C 4: 150,067,360 (GRCm39) D350G probably benign Het
Ifi44 A G 3: 151,438,061 (GRCm39) Y409H probably benign Het
Kdm5a T G 6: 120,404,025 (GRCm39) F1210C probably damaging Het
Kdm5b C T 1: 134,515,669 (GRCm39) R98C probably damaging Het
Lipt1 T A 1: 37,915,043 (GRCm39) C366* probably null Het
Med13 G A 11: 86,236,744 (GRCm39) R138* probably null Het
Mterf1a A G 5: 3,941,845 (GRCm39) C8R probably benign Het
Ncapg2 A T 12: 116,382,897 (GRCm39) I243F probably damaging Het
Nop58 T C 1: 59,744,754 (GRCm39) S304P probably damaging Het
Nsd2 T C 5: 34,028,811 (GRCm39) *167Q probably null Het
Or1e30 T G 11: 73,678,616 (GRCm39) M284R probably damaging Het
Or2t35 T A 14: 14,407,867 (GRCm38) I213N probably damaging Het
Pramel29 C T 4: 143,935,091 (GRCm39) V217I possibly damaging Het
Prdm16 C T 4: 154,425,947 (GRCm39) G613R probably damaging Het
Prss46 T C 9: 110,679,065 (GRCm39) S89P probably damaging Het
Scin T C 12: 40,174,687 (GRCm39) N132S possibly damaging Het
Sec14l2 T C 11: 4,058,574 (GRCm39) K196R probably benign Het
Sox17 C A 1: 4,563,895 (GRCm39) probably benign Het
Tango6 A G 8: 107,425,621 (GRCm39) T394A probably benign Het
Tbc1d22a T A 15: 86,250,876 (GRCm39) I398N probably damaging Het
Tdpoz8 A G 3: 92,981,752 (GRCm39) I183V probably benign Het
Tmem8b T C 4: 43,689,461 (GRCm39) V285A probably damaging Het
Tnfrsf11b T A 15: 54,123,497 (GRCm39) T35S probably benign Het
Unc13c T A 9: 73,606,494 (GRCm39) I1289F probably benign Het
Ust C T 10: 8,205,987 (GRCm39) V99I probably benign Het
Vmn1r76 A G 7: 11,664,344 (GRCm39) V290A probably benign Het
Vmn2r50 T C 7: 9,781,665 (GRCm39) N360S probably benign Het
Vmn2r93 T C 17: 18,536,910 (GRCm39) I531T probably benign Het
Zap70 T C 1: 36,818,395 (GRCm39) probably null Het
Zfp932 A G 5: 110,157,630 (GRCm39) N443D probably benign 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
R7043:Or52ab2 UTSW 7 102,970,292 (GRCm39) unclassified probably benign
R7322:Or52ab2 UTSW 7 102,970,494 (GRCm39) missense
R7472:Or52ab2 UTSW 7 102,969,656 (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'- GTACATCTTCCTGGCTGTGC -3'
(R):5'- TACATCATCTGCTGCAAGCTTC -3'

Sequencing Primer
(F):5'- TGTGCTGGCAGGTACAGAC -3'
(R):5'- CAGCCATGTGTTCACAGTAAG -3'
Posted On 2019-11-12