Incidental Mutation 'IGL01864:Or52ab2'
ID 178441
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 # IGL01864
Quality Score
Status
Chromosome 7
Chromosomal Location 102969620-102970567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102970541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 308 (F308I)
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: F308I

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095804
Gene: ENSMUSG00000073952
AA Change: F308I

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: F308I

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc40 A G 11: 119,133,911 (GRCm39) N630S probably benign Het
Cd180 A T 13: 102,842,541 (GRCm39) H529L possibly damaging Het
Cntnap5c T C 17: 58,717,237 (GRCm39) M1273T probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Helz C T 11: 107,493,180 (GRCm39) S201L probably damaging Het
Ifi207 T C 1: 173,564,007 (GRCm39) E4G possibly damaging Het
Ints3 T C 3: 90,322,486 (GRCm39) T165A probably benign Het
Itgax T A 7: 127,732,935 (GRCm39) D271E probably benign Het
Mei1 T C 15: 81,997,218 (GRCm39) probably benign Het
Or4g16 T A 2: 111,137,400 (GRCm39) N283K probably damaging Het
Prdm4 T C 10: 85,729,100 (GRCm39) D762G probably benign Het
Psg19 T A 7: 18,528,077 (GRCm39) Y222F probably benign Het
Rflna A G 5: 125,087,511 (GRCm39) I83V possibly damaging Het
Suclg1 T C 6: 73,241,280 (GRCm39) probably benign Het
Usp48 G A 4: 137,366,538 (GRCm39) E130K possibly damaging Het
Vmn2r109 T A 17: 20,761,396 (GRCm39) T654S probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Or52ab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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