Incidental Mutation 'IGL02151:Or52ac1'
ID 282007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52ac1
Ensembl Gene ENSMUSG00000051182
Gene Name olfactory receptor family 52 subfamily AC member 1
Synonyms GA_x6K02T2PBJ9-7224628-7223702, Olfr655, MOR38-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02151
Quality Score
Status
Chromosome 7
Chromosomal Location 104245460-104246386 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104245741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 216 (S216P)
Ref Sequence ENSEMBL: ENSMUSP00000150891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057385] [ENSMUST00000215538] [ENSMUST00000216750]
AlphaFold E9Q252
Predicted Effect probably damaging
Transcript: ENSMUST00000057385
AA Change: S216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054108
Gene: ENSMUSG00000051182
AA Change: S216P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.4e-95 PFAM
Pfam:7TM_GPCR_Srsx 35 305 5e-10 PFAM
Pfam:7tm_1 41 291 1.5e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215434
Predicted Effect probably damaging
Transcript: ENSMUST00000215538
AA Change: S216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216750
AA Change: S216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 G T 5: 50,136,484 (GRCm39) T667N probably benign Het
Aff4 T C 11: 53,290,633 (GRCm39) I531T probably benign Het
Akap9 C T 5: 4,082,728 (GRCm39) Q1951* probably null Het
Arhgef10 C T 8: 14,978,889 (GRCm39) T52M possibly damaging Het
Atg2a A G 19: 6,305,787 (GRCm39) E1132G possibly damaging Het
AW551984 A C 9: 39,504,241 (GRCm39) I575S probably benign Het
Cfap299 C T 5: 98,477,301 (GRCm39) T24M probably damaging Het
Cog7 T C 7: 121,543,031 (GRCm39) E460G probably damaging Het
Ctse A G 1: 131,600,273 (GRCm39) I341V probably benign Het
Dcpp1 A T 17: 24,101,568 (GRCm39) I106L possibly damaging Het
Dcxr T A 11: 120,616,809 (GRCm39) M158L probably benign Het
Dnah11 A T 12: 118,023,623 (GRCm39) probably benign Het
Dnah7a T A 1: 53,512,023 (GRCm39) I3013F probably benign Het
Dnah8 A G 17: 30,867,391 (GRCm39) D281G possibly damaging Het
Dpysl3 G A 18: 43,491,365 (GRCm39) H136Y probably damaging Het
Eaf1 C T 14: 31,219,744 (GRCm39) T61M probably damaging Het
Fmnl1 A G 11: 103,083,598 (GRCm39) T441A probably benign Het
Hmgcll1 C T 9: 75,988,720 (GRCm39) P197L probably benign Het
Kdm4b T C 17: 56,703,234 (GRCm39) V643A probably benign Het
Lrch2 A G X: 146,336,716 (GRCm39) F111L possibly damaging Het
Macf1 A T 4: 123,265,559 (GRCm39) probably benign Het
Mfsd4b2 T C 10: 39,797,687 (GRCm39) N223D probably damaging Het
Mug1 G A 6: 121,861,649 (GRCm39) probably null Het
Nek7 A T 1: 138,414,838 (GRCm39) L270Q probably damaging Het
Nexn T A 3: 151,953,881 (GRCm39) D127V probably damaging Het
Nxf3 A G X: 134,980,322 (GRCm39) F130S probably damaging Het
Or11a4 T A 17: 37,536,057 (GRCm39) F14I probably damaging Het
Pcdhb16 G A 18: 37,611,411 (GRCm39) V124I possibly damaging Het
Podxl T C 6: 31,501,394 (GRCm39) D387G possibly damaging Het
Prp2rt T A 13: 97,235,682 (GRCm39) T22S probably null Het
Rab3d C A 9: 21,827,020 (GRCm39) R70M probably damaging Het
Ripk2 A T 4: 16,139,240 (GRCm39) M219K possibly damaging Het
Rnf146 A G 10: 29,223,349 (GRCm39) V179A probably damaging Het
Robo1 G T 16: 72,786,504 (GRCm39) V839L probably benign Het
Rttn T A 18: 89,038,329 (GRCm39) N808K probably damaging Het
Slc12a3 T G 8: 95,075,220 (GRCm39) V738G probably benign Het
Slc26a3 T C 12: 31,497,830 (GRCm39) V78A probably damaging Het
Slc26a9 G A 1: 131,691,781 (GRCm39) V675M probably damaging Het
Sncb T A 13: 54,910,509 (GRCm39) I76F probably benign Het
Stat4 G A 1: 52,053,029 (GRCm39) R70H probably damaging Het
Tle6 T C 10: 81,434,474 (GRCm39) M42V probably benign Het
Tmem67 T C 4: 12,068,882 (GRCm39) T439A probably benign Het
Ugt2b35 C A 5: 87,151,141 (GRCm39) T249K possibly damaging Het
Vmn1r231 C T 17: 21,109,997 (GRCm39) R306K probably benign Het
Vmn1r42 A T 6: 89,822,023 (GRCm39) I182N possibly damaging Het
Zfhx3 T C 8: 109,520,515 (GRCm39) S546P probably damaging Het
Zic3 G T X: 57,076,899 (GRCm39) probably null Het
Other mutations in Or52ac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03309:Or52ac1 APN 7 104,246,248 (GRCm39) missense probably benign
R0421:Or52ac1 UTSW 7 104,245,929 (GRCm39) missense probably benign 0.00
R1966:Or52ac1 UTSW 7 104,246,008 (GRCm39) missense probably damaging 1.00
R4452:Or52ac1 UTSW 7 104,245,846 (GRCm39) missense probably damaging 0.98
R4566:Or52ac1 UTSW 7 104,245,823 (GRCm39) nonsense probably null
R5445:Or52ac1 UTSW 7 104,246,028 (GRCm39) missense probably damaging 1.00
R5494:Or52ac1 UTSW 7 104,245,932 (GRCm39) missense probably damaging 0.97
R5838:Or52ac1 UTSW 7 104,246,104 (GRCm39) missense probably benign
R6015:Or52ac1 UTSW 7 104,245,915 (GRCm39) missense probably damaging 1.00
R6928:Or52ac1 UTSW 7 104,245,796 (GRCm39) nonsense probably null
R6996:Or52ac1 UTSW 7 104,246,018 (GRCm39) missense probably benign 0.10
R7250:Or52ac1 UTSW 7 104,245,738 (GRCm39) missense probably damaging 1.00
R7268:Or52ac1 UTSW 7 104,246,284 (GRCm39) missense probably benign
R8195:Or52ac1 UTSW 7 104,246,133 (GRCm39) missense probably damaging 1.00
R9198:Or52ac1 UTSW 7 104,245,635 (GRCm39) missense probably damaging 1.00
X0027:Or52ac1 UTSW 7 104,246,295 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16