Incidental Mutation 'R1450:Or51ac3'
ID 162147
Institutional Source Beutler Lab
Gene Symbol Or51ac3
Ensembl Gene ENSMUSG00000047544
Gene Name olfactory receptor family 51 subfamily AC member 3
Synonyms MOR19-1, GA_x6K02T2PBJ9-6289676-6288723, Olfr616
MMRRC Submission 039505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R1450 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103213531-103214484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103213658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 276 (V276A)
Ref Sequence ENSEMBL: ENSMUSP00000150954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098198] [ENSMUST00000106886] [ENSMUST00000214345] [ENSMUST00000214806] [ENSMUST00000215673] [ENSMUST00000217293]
AlphaFold Q3KPB0
Predicted Effect probably benign
Transcript: ENSMUST00000098198
SMART Domains Protein: ENSMUSP00000095800
Gene: ENSMUSG00000073947

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 2.5e-105 PFAM
Pfam:7TM_GPCR_Srsx 36 253 8.5e-9 PFAM
Pfam:7tm_1 42 293 8.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106886
AA Change: V276A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102499
Gene: ENSMUSG00000047544
AA Change: V276A

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:7tm_4 33 311 1.1e-116 PFAM
Pfam:7TM_GPCR_Srsx 37 309 1.2e-6 PFAM
Pfam:7tm_1 43 294 4.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214345
Predicted Effect probably benign
Transcript: ENSMUST00000214806
AA Change: V276A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215673
Predicted Effect probably benign
Transcript: ENSMUST00000217293
AA Change: V276A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.2164 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.8%
Validation Efficiency 96% (73/76)
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
Abca13 A T 11: 9,380,531 (GRCm39) probably benign Het
Adh4 C T 3: 138,129,935 (GRCm39) P254S probably damaging Het
Amfr T C 8: 94,714,375 (GRCm39) T223A probably benign Het
Ank2 T C 3: 126,750,951 (GRCm39) T412A possibly damaging Het
Bag6 T A 17: 35,360,934 (GRCm39) D422E probably benign Het
Ccdc185 T G 1: 182,575,129 (GRCm39) Q520P possibly damaging Het
Cfap276 T A 3: 108,449,799 (GRCm39) probably null Het
Clock G A 5: 76,410,578 (GRCm39) Q98* probably null Het
Cngb3 A T 4: 19,395,922 (GRCm39) probably benign Het
Csmd1 T G 8: 15,995,180 (GRCm39) probably null Het
Cubn A G 2: 13,365,130 (GRCm39) L1636P probably damaging Het
Dennd4a A G 9: 64,818,947 (GRCm39) I1701V probably benign Het
Dgcr2 T C 16: 17,674,678 (GRCm39) H243R possibly damaging Het
Dimt1 A G 13: 107,084,151 (GRCm39) N46S probably benign Het
Dnah9 T C 11: 65,818,612 (GRCm39) Y58C probably damaging Het
Dsg1b T A 18: 20,542,241 (GRCm39) V916E probably damaging Het
Dst T C 1: 34,227,476 (GRCm39) S1690P probably damaging Het
Dst T A 1: 34,251,340 (GRCm39) I2131K probably damaging Het
Epb41l1 T C 2: 156,353,745 (GRCm39) probably benign Het
Fem1a T C 17: 56,564,579 (GRCm39) V224A probably damaging Het
Got2 C T 8: 96,598,614 (GRCm39) E203K probably benign Het
Hcar2 A T 5: 124,002,813 (GRCm39) I230N probably damaging Het
Herc3 A T 6: 58,853,500 (GRCm39) K554* probably null Het
Hfm1 A G 5: 107,066,324 (GRCm39) F35L probably damaging Het
Hmcn1 A G 1: 150,528,257 (GRCm39) probably benign Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hs2st1 C T 3: 144,140,479 (GRCm39) probably benign Het
Igfbp5 T A 1: 72,913,048 (GRCm39) D84V probably benign Het
Ints3 C A 3: 90,340,135 (GRCm39) L41F probably damaging Het
Ipo5 T C 14: 121,181,805 (GRCm39) V966A probably benign Het
Kif26a C T 12: 112,140,286 (GRCm39) T505M probably damaging Het
Kpna2 A G 11: 106,888,135 (GRCm39) S2P probably benign Het
Lct A G 1: 128,235,640 (GRCm39) S456P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc7 T G 3: 157,892,681 (GRCm39) I323L possibly damaging Het
Ly6g A G 15: 75,030,482 (GRCm39) K77R probably benign Het
Maea T C 5: 33,523,144 (GRCm39) probably null Het
Marco A T 1: 120,404,474 (GRCm39) probably benign Het
Mcmbp G T 7: 128,317,655 (GRCm39) probably benign Het
Mtcl3 A T 10: 29,023,736 (GRCm39) N361I probably damaging Het
Mtr T A 13: 12,208,619 (GRCm39) R1017W probably damaging Het
Myo15a T A 11: 60,386,308 (GRCm39) I1811N probably damaging Het
Nbeal2 G A 9: 110,462,740 (GRCm39) probably benign Het
Nlrp10 A G 7: 108,524,595 (GRCm39) V295A probably damaging Het
Or10ak7 T C 4: 118,791,707 (GRCm39) T111A probably benign Het
Or5e1 A T 7: 108,354,719 (GRCm39) I219F probably damaging Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Peg12 C A 7: 62,113,324 (GRCm39) G258* probably null Het
Pigc A G 1: 161,798,822 (GRCm39) Y268C probably benign Het
Pnisr G T 4: 21,874,912 (GRCm39) probably null Het
Poteg T C 8: 27,937,871 (GRCm39) F5S probably benign Het
Prss40 T A 1: 34,595,178 (GRCm39) I101F probably benign Het
Ptges3l T A 11: 101,312,731 (GRCm39) D113V possibly damaging Het
Raver2 T C 4: 100,993,349 (GRCm39) S510P possibly damaging Het
Rgr A T 14: 36,766,641 (GRCm39) C94* probably null Het
Rp1l1 T A 14: 64,265,599 (GRCm39) I395N probably benign Het
Sesn3 T A 9: 14,227,520 (GRCm39) H168Q possibly damaging Het
Sox30 C A 11: 45,908,098 (GRCm39) P755Q probably damaging Het
Stac3 T C 10: 127,340,754 (GRCm39) F173S probably damaging Het
Synj2 C A 17: 6,077,599 (GRCm39) probably benign Het
Tars3 A T 7: 65,297,244 (GRCm39) I120L probably benign Het
Tas2r124 A G 6: 132,732,019 (GRCm39) I109M probably damaging Het
Tm4sf19 A T 16: 32,226,781 (GRCm39) H190L probably damaging Het
Tmem143 T G 7: 45,556,532 (GRCm39) V179G probably damaging Het
Ubr4 T C 4: 139,195,339 (GRCm39) F1187S probably damaging Het
Ubtfl1 A G 9: 18,321,209 (GRCm39) R246G possibly damaging Het
Zdhhc5 A G 2: 84,532,733 (GRCm39) F57S probably damaging Het
Zfp40 A T 17: 23,394,232 (GRCm39) M717K probably benign Het
Other mutations in Or51ac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:Or51ac3 APN 7 103,214,228 (GRCm39) missense probably damaging 0.99
IGL02366:Or51ac3 APN 7 103,213,622 (GRCm39) missense probably damaging 1.00
IGL03028:Or51ac3 APN 7 103,213,796 (GRCm39) splice site probably null
R0087:Or51ac3 UTSW 7 103,213,569 (GRCm39) missense probably benign 0.00
R1900:Or51ac3 UTSW 7 103,213,814 (GRCm39) nonsense probably null
R2026:Or51ac3 UTSW 7 103,214,084 (GRCm39) missense probably damaging 1.00
R2139:Or51ac3 UTSW 7 103,213,961 (GRCm39) missense possibly damaging 0.90
R2883:Or51ac3 UTSW 7 103,214,471 (GRCm39) missense probably benign 0.24
R4359:Or51ac3 UTSW 7 103,213,742 (GRCm39) missense probably benign 0.29
R4589:Or51ac3 UTSW 7 103,213,639 (GRCm39) missense probably damaging 0.98
R4827:Or51ac3 UTSW 7 103,213,752 (GRCm39) missense probably damaging 1.00
R5023:Or51ac3 UTSW 7 103,214,378 (GRCm39) missense possibly damaging 0.95
R5397:Or51ac3 UTSW 7 103,213,713 (GRCm39) missense probably damaging 0.99
R6109:Or51ac3 UTSW 7 103,214,346 (GRCm39) missense probably benign 0.12
R8090:Or51ac3 UTSW 7 103,214,048 (GRCm39) missense probably benign 0.03
R9101:Or51ac3 UTSW 7 103,213,680 (GRCm39) missense possibly damaging 0.69
R9439:Or51ac3 UTSW 7 103,214,049 (GRCm39) missense probably benign
R9649:Or51ac3 UTSW 7 103,213,850 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACACCTCTTTTGCTAAGACTGTGTG -3'
(R):5'- TGATGTTAATGATCCCCTTGCCAATCC -3'

Sequencing Primer
(F):5'- GTGGTTATTTGAGCAAGTTTCCCC -3'
(R):5'- ACATCATGAAGCTGGCCTG -3'
Posted On 2014-03-14