Incidental Mutation 'R0421:Or52ac1'
ID 37058
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 038623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0421 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104245460-104246386 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104245929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 153 (V153A)
Ref Sequence ENSEMBL: ENSMUSP00000150891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057385] [ENSMUST00000215538] [ENSMUST00000216750]
AlphaFold E9Q252
Predicted Effect probably benign
Transcript: ENSMUST00000057385
AA Change: V153A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054108
Gene: ENSMUSG00000051182
AA Change: V153A

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 benign
Transcript: ENSMUST00000215538
AA Change: V153A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216750
AA Change: V153A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 97% (67/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 G A 2: 22,850,839 (GRCm39) T195I probably damaging Het
Afap1l1 T C 18: 61,884,945 (GRCm39) N180S probably damaging Het
Arsg A G 11: 109,418,592 (GRCm39) Y196C probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atp2b2 C A 6: 113,790,849 (GRCm39) R185L probably damaging Het
Ccr9 A T 9: 123,608,671 (GRCm39) M118L probably benign Het
Cdh12 A T 15: 21,480,310 (GRCm39) probably null Het
Cdk13 T C 13: 17,937,755 (GRCm39) S763G probably damaging Het
Cenpk C A 13: 104,378,911 (GRCm39) N177K probably benign Het
Cfap43 T G 19: 47,824,014 (GRCm39) N119T probably benign Het
Chrna6 T C 8: 27,898,415 (GRCm39) E101G probably null Het
Clasp2 G A 9: 113,683,370 (GRCm39) R400H probably benign Het
Col6a6 T C 9: 105,661,405 (GRCm39) M235V probably benign Het
Ddx49 A T 8: 70,748,282 (GRCm39) L291Q probably damaging Het
Dhrs7 A T 12: 72,699,860 (GRCm39) probably benign Het
Dnah5 A T 15: 28,229,687 (GRCm39) K107M possibly damaging Het
Dsg2 C T 18: 20,712,448 (GRCm39) R151C probably damaging Het
Dsn1 T C 2: 156,847,789 (GRCm39) T2A possibly damaging Het
Edem3 A G 1: 151,668,189 (GRCm39) probably benign Het
Eif3c T C 7: 126,162,884 (GRCm39) N133S possibly damaging Het
F10 A G 8: 13,095,097 (GRCm39) K85E probably benign Het
Fbn2 T A 18: 58,160,876 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,607,290 (GRCm39) H50Q probably benign Het
Hephl1 A G 9: 14,970,456 (GRCm39) F1013L probably benign Het
Hps3 C A 3: 20,083,480 (GRCm39) V238F probably benign Het
Kcna10 A C 3: 107,101,820 (GRCm39) K150N probably damaging Het
Kirrel1 C T 3: 86,990,914 (GRCm39) G636D probably damaging Het
Kndc1 G A 7: 139,488,912 (GRCm39) R189H probably damaging Het
Knop1 C T 7: 118,454,852 (GRCm39) E50K possibly damaging Het
Kplce T C 3: 92,776,291 (GRCm39) T131A probably damaging Het
Kpna7 T A 5: 144,926,551 (GRCm39) H467L possibly damaging Het
Lcn4 T C 2: 26,558,661 (GRCm39) N142D possibly damaging Het
Map3k3 T C 11: 106,039,741 (GRCm39) probably benign Het
Mdn1 A G 4: 32,684,707 (GRCm39) T806A probably benign Het
Nbeal1 T A 1: 60,307,598 (GRCm39) N1703K probably benign Het
Neurl4 T C 11: 69,799,360 (GRCm39) V914A probably damaging Het
Niban1 T A 1: 151,584,833 (GRCm39) probably benign Het
Nop56 T C 2: 130,118,692 (GRCm39) S275P possibly damaging Het
Or1j20 A G 2: 36,759,653 (GRCm39) E25G possibly damaging Het
Or7e174 A G 9: 20,012,771 (GRCm39) K239E probably damaging Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Pappa2 A T 1: 158,675,650 (GRCm39) I1032N probably damaging Het
Pcdh7 A G 5: 57,877,402 (GRCm39) E319G probably damaging Het
Pcdhb11 T A 18: 37,555,533 (GRCm39) S288T probably benign Het
Phip A T 9: 82,808,510 (GRCm39) D488E probably damaging Het
Pla2g7 A T 17: 43,922,303 (GRCm39) H394L probably damaging Het
Plk3 A G 4: 116,990,641 (GRCm39) V69A probably damaging Het
Prob1 C A 18: 35,786,083 (GRCm39) A724S possibly damaging Het
Prune2 T C 19: 17,100,675 (GRCm39) F2060L probably benign Het
Rgl3 G A 9: 21,887,328 (GRCm39) R498C probably benign Het
Rnf213 A C 11: 119,338,083 (GRCm39) N3362H probably damaging Het
Sbds A G 5: 130,282,774 (GRCm39) probably benign Het
Scn9a T C 2: 66,373,621 (GRCm39) S453G probably benign Het
Sh3rf3 T C 10: 58,819,897 (GRCm39) L236P probably damaging Het
Skint1 A G 4: 111,876,211 (GRCm39) N44S possibly damaging Het
Slc5a1 T A 5: 33,291,996 (GRCm39) I141N probably damaging Het
Tlcd3b G A 7: 126,424,187 (GRCm39) V44M probably damaging Het
Trank1 T A 9: 111,220,907 (GRCm39) I2548N probably damaging Het
Tsc22d2 G A 3: 58,324,749 (GRCm39) probably benign Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vmn2r11 T G 5: 109,207,294 (GRCm39) I9L probably benign Het
Vmn2r58 T G 7: 41,514,628 (GRCm39) N114H probably benign Het
Vps53 A G 11: 75,973,496 (GRCm39) L166P probably damaging Het
Zfp119a T A 17: 56,172,248 (GRCm39) K532* probably null Het
Zfp472 A G 17: 33,194,897 (GRCm39) T11A possibly damaging Het
Zfp512b T A 2: 181,230,051 (GRCm39) K87* probably null Het
Zfp518b G A 5: 38,831,918 (GRCm39) P29L probably damaging Het
Zfp599 A G 9: 22,161,843 (GRCm39) probably benign Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGAGTTGAGGCGTACCACACTCTG -3'
(R):5'- CACACCAATGTATCTGCTCCTGGC -3'

Sequencing Primer
(F):5'- AATTAGAAGCAGATCGAGTCCC -3'
(R):5'- GATCGAGTCATAGCCATCTATGC -3'
Posted On 2013-05-09