Incidental Mutation 'R5494:Or52ac1'
ID 432238
Institutional Source Beutler Lab
Gene Symbol Or52ac1
Ensembl Gene ENSMUSG00000051182
Gene Name olfactory receptor family 52 subfamily AC member 1
Synonyms GA_x6K02T2PBJ9-7224628-7223702, Olfr655, MOR38-1
MMRRC Submission 043055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5494 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104245460-104246386 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104245932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 152 (G152V)
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: G152V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054108
Gene: ENSMUSG00000051182
AA Change: G152V

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: G152V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000216750
AA Change: G152V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,223,165 (GRCm39) E436G probably damaging Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Apob A G 12: 8,061,762 (GRCm39) N3415D probably damaging Het
Asb18 T C 1: 89,882,121 (GRCm39) E139G probably damaging Het
Atrn T C 2: 130,864,995 (GRCm39) L1374P probably damaging Het
Ccdc81 A G 7: 89,526,781 (GRCm39) S410P probably damaging Het
Cep112 A G 11: 108,555,431 (GRCm39) E809G probably damaging Het
Dctn1 G T 6: 83,159,546 (GRCm39) R8L possibly damaging Het
Ddn C A 15: 98,704,884 (GRCm39) R82L probably damaging Het
Dgkz A T 2: 91,771,394 (GRCm39) probably null Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Frem1 T C 4: 82,858,990 (GRCm39) *415W probably null Het
Fry A T 5: 150,314,132 (GRCm39) D789V probably damaging Het
Fzr1 C T 10: 81,207,178 (GRCm39) probably null Het
Gemin5 T A 11: 58,021,526 (GRCm39) Y1025F probably damaging Het
Gjb5 C T 4: 127,249,347 (GRCm39) V266M probably damaging Het
Gli3 A T 13: 15,900,567 (GRCm39) Q1318L probably benign Het
Golgb1 T A 16: 36,749,045 (GRCm39) N3056K possibly damaging Het
Gucy1b1 T A 3: 81,947,183 (GRCm39) D342V probably damaging Het
H1f9 T C 11: 94,858,843 (GRCm39) L46S probably benign Het
Hc A T 2: 34,893,551 (GRCm39) probably null Het
Heg1 A G 16: 33,545,804 (GRCm39) D185G probably benign Het
Igf2r A T 17: 12,912,032 (GRCm39) M1865K possibly damaging Het
Il27 A G 7: 126,192,100 (GRCm39) L12P probably damaging Het
Krt1 C T 15: 101,759,149 (GRCm39) C5Y unknown Het
Med25 C T 7: 44,535,225 (GRCm39) V170M probably damaging Het
Mgat4a T A 1: 37,493,898 (GRCm39) Y316F probably damaging Het
Oas3 A G 5: 120,899,709 (GRCm39) V725A unknown Het
Or5w16 T C 2: 87,576,950 (GRCm39) S137P probably damaging Het
Pcdhb17 T C 18: 37,620,300 (GRCm39) S697P probably damaging Het
Plch2 T C 4: 155,075,579 (GRCm39) Y751C probably damaging Het
Rbms2 G T 10: 127,973,560 (GRCm39) T252N probably damaging Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Scfd1 A G 12: 51,443,522 (GRCm39) probably null Het
Shank3 C T 15: 89,432,441 (GRCm39) T1062M probably damaging Het
Slc28a1 G A 7: 80,817,787 (GRCm39) G552E probably damaging Het
Sntn A G 14: 13,682,214 (GRCm38) R96G probably benign Het
Tas2r102 T C 6: 132,740,106 (GRCm39) V338A probably benign Het
Trim62 A T 4: 128,778,999 (GRCm39) N145Y possibly damaging Het
Tspoap1 C T 11: 87,666,031 (GRCm39) T863I possibly damaging Het
Ubr5 C T 15: 38,019,525 (GRCm39) C739Y possibly damaging Het
Vps13c G A 9: 67,855,428 (GRCm39) V2498I probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Or52ac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02151:Or52ac1 APN 7 104,245,741 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTAGAAGCAGATCGAGTCCCAC -3'
(R):5'- AAGGTCCTGTGCCTCTTCTG -3'

Sequencing Primer
(F):5'- GCAGATCGAGTCCCACTACAAG -3'
(R):5'- CCTCTTCTGGTTTGATGATCGAGTC -3'
Posted On 2016-10-05