Incidental Mutation 'IGL01872:Or52ab2'
ID 178735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52ab2
Ensembl Gene ENSMUSG00000073952
Gene Name olfactory receptor family 52 subfamily AB member 2
Synonyms Olfr597, MOR23-2, GA_x6K02T2PBJ9-6029614-6030561
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01872
Quality Score
Status
Chromosome 7
Chromosomal Location 102969620-102970567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102970179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 187 (V187A)
Ref Sequence ENSEMBL: ENSMUSP00000150238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098203] [ENSMUST00000214765] [ENSMUST00000216456]
AlphaFold L7N224
Predicted Effect probably benign
Transcript: ENSMUST00000098203
AA Change: V187A

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095804
Gene: ENSMUSG00000073952
AA Change: V187A

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 probably benign
Transcript: ENSMUST00000216456
AA Change: V187A

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,120 (GRCm39) probably benign Het
Alpk2 A G 18: 65,437,824 (GRCm39) S1657P probably benign Het
Alx4 A G 2: 93,507,818 (GRCm39) N371S probably benign Het
Cby1 T A 15: 79,549,943 (GRCm39) W59R probably damaging Het
Chmp1a A T 8: 123,932,976 (GRCm39) L159Q probably damaging Het
Ciz1 T C 2: 32,268,121 (GRCm39) probably benign Het
Cnksr1 A G 4: 133,956,275 (GRCm39) I603T probably benign Het
Dph1 A C 11: 75,072,167 (GRCm39) F220C probably damaging Het
Epha4 T A 1: 77,359,676 (GRCm39) M726L probably benign Het
Eps8l1 C T 7: 4,475,295 (GRCm39) probably benign Het
Fbxo24 C A 5: 137,611,987 (GRCm39) R313L probably damaging Het
Fgf4 C T 7: 144,415,995 (GRCm39) R119* probably null Het
Grb10 T C 11: 11,920,547 (GRCm39) T24A probably damaging Het
Ifi27l2a C T 12: 103,401,719 (GRCm39) A2V probably damaging Het
Ipmk T A 10: 71,208,706 (GRCm39) M165K probably damaging Het
Kcnk2 C T 1: 188,988,780 (GRCm39) G266R probably damaging Het
Mak A C 13: 41,210,131 (GRCm39) M35R probably damaging Het
Mlxipl A T 5: 135,142,545 (GRCm39) I120F probably damaging Het
Nav1 A G 1: 135,381,814 (GRCm39) V1423A probably damaging Het
Olfm4 T C 14: 80,259,368 (GRCm39) *506Q probably null Het
Opn4 T A 14: 34,319,166 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,176 (GRCm39) L4P possibly damaging Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Otof G A 5: 30,536,598 (GRCm39) probably benign Het
Pde5a G A 3: 122,588,018 (GRCm39) probably null Het
Pik3r1 A T 13: 101,825,625 (GRCm39) D87E probably benign Het
Rbm6 A T 9: 107,660,914 (GRCm39) V883E probably damaging Het
Rptn A G 3: 93,304,154 (GRCm39) S496G probably benign Het
Sap130 A G 18: 31,807,473 (GRCm39) R427G probably damaging Het
Slc26a4 T C 12: 31,589,202 (GRCm39) S415G probably benign Het
Slc5a1 T C 5: 33,311,981 (GRCm39) S458P probably damaging Het
Smg1 A G 7: 117,748,167 (GRCm39) probably benign Het
Sspo G T 6: 48,431,623 (GRCm39) V639L probably damaging Het
Ttn A G 2: 76,729,077 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps54 G A 11: 21,256,940 (GRCm39) A683T probably damaging Het
Zfp354a A T 11: 50,960,164 (GRCm39) N123I possibly damaging Het
Zfpm2 T C 15: 40,965,783 (GRCm39) V624A probably benign Het
Other mutations in Or52ab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01864:Or52ab2 APN 7 102,970,541 (GRCm39) missense probably benign 0.27
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
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
Posted On 2014-05-07