Incidental Mutation 'R9101:Or51ac3'
ID 691686
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 068915-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R9101 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103213531-103214484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103213680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 269 (F269I)
Ref Sequence ENSEMBL: ENSMUSP00000150171 (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 possibly damaging
Transcript: ENSMUST00000106886
AA Change: F269I

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102499
Gene: ENSMUSG00000047544
AA Change: F269I

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 possibly damaging
Transcript: ENSMUST00000214806
AA Change: F269I

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000215673
Predicted Effect possibly damaging
Transcript: ENSMUST00000217293
AA Change: F269I

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T C 12: 113,455,376 (GRCm39) V731A probably benign Het
Adamts7 T C 9: 90,071,794 (GRCm39) probably null Het
Afdn T C 17: 14,043,706 (GRCm39) V388A probably damaging Het
Alg3 A G 16: 20,427,599 (GRCm39) Y113H possibly damaging Het
Aox1 C T 1: 58,371,796 (GRCm39) P820L probably benign Het
Avil A G 10: 126,852,873 (GRCm39) D731G probably benign Het
Blvra C T 2: 126,927,890 (GRCm39) L47F probably damaging Het
Bmerb1 T A 16: 13,867,259 (GRCm39) I39N probably damaging Het
Ccdc85c C A 12: 108,240,917 (GRCm39) R159L unknown Het
Clcn2 T C 16: 20,525,979 (GRCm39) D797G probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Dclre1a A T 19: 56,532,738 (GRCm39) F619I possibly damaging Het
Dnajb1 C A 8: 84,335,119 (GRCm39) D53E probably benign Het
Dnmt1 T C 9: 20,852,839 (GRCm39) D89G probably damaging Het
Gck A G 11: 5,856,516 (GRCm39) Y214H probably damaging Het
Gm9507 A G 10: 77,647,650 (GRCm39) S10P unknown Het
Hacd2 G A 16: 34,920,156 (GRCm39) V138I probably benign Het
Hhip A T 8: 80,770,591 (GRCm39) V272D probably damaging Het
Hoga1 A C 19: 42,048,347 (GRCm39) T72P possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Kif21b G A 1: 136,078,893 (GRCm39) G414S probably damaging Het
Klk1b5 T A 7: 43,500,205 (GRCm39) D264E probably benign Het
Lars1 G A 18: 42,376,942 (GRCm39) R205C probably damaging Het
Ly6a A T 15: 74,869,419 (GRCm39) L12Q probably null Het
Mastl A G 2: 23,008,449 (GRCm39) *866Q probably null Het
Mpzl3 T A 9: 44,981,983 (GRCm39) M217K possibly damaging Het
Mroh2b T A 15: 4,929,935 (GRCm39) M7K probably benign Het
Mtarc2 T A 1: 184,554,687 (GRCm39) R273W probably null Het
Nefh A G 11: 4,890,925 (GRCm39) S565P probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nsd1 C T 13: 55,461,359 (GRCm39) L2632F Het
Or10d1 T A 9: 39,483,805 (GRCm39) Y250F probably benign Het
Or1a1b C T 11: 74,097,322 (GRCm39) C240Y probably damaging Het
Or4a71 A T 2: 89,358,721 (GRCm39) I11N possibly damaging Het
Or51r1 T C 7: 102,228,137 (GRCm39) V145A probably benign Het
Or5m10b A G 2: 85,694,523 (GRCm39) probably benign Het
Or5w18 T C 2: 87,632,924 (GRCm39) Y60H probably damaging Het
Pcdhga6 T C 18: 37,841,393 (GRCm39) V371A possibly damaging Het
Pdss2 A G 10: 43,269,945 (GRCm39) K263E possibly damaging Het
Phf3 C T 1: 30,843,026 (GRCm39) A1978T possibly damaging Het
Phykpl C A 11: 51,483,741 (GRCm39) T207K probably benign Het
Pkd2 T A 5: 104,628,230 (GRCm39) C435S probably damaging Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Pramel52-ps G A 5: 94,531,899 (GRCm39) C261Y probably damaging Het
Prkra T A 2: 76,478,184 (GRCm39) H6L probably benign Het
Prpf39 A G 12: 65,090,078 (GRCm39) K131E probably damaging Het
Prpf40a A G 2: 53,035,255 (GRCm39) V762A probably benign Het
Prr27 C T 5: 87,991,330 (GRCm39) T314I probably damaging Het
Ptges3 A G 10: 127,907,998 (GRCm39) D116G possibly damaging Het
Rab11fip5 G T 6: 85,317,675 (GRCm39) F1071L probably benign Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
Slc45a3 T C 1: 131,905,175 (GRCm39) V66A possibly damaging Het
Spata31e5 T A 1: 28,815,740 (GRCm39) D764V probably benign Het
Ten1 A G 11: 116,096,562 (GRCm39) Y72C probably damaging Het
Tenm3 A G 8: 48,745,186 (GRCm39) L1125S probably damaging Het
Thpo T A 16: 20,544,557 (GRCm39) I159F possibly damaging Het
Tmppe T C 9: 114,234,309 (GRCm39) S203P probably damaging Het
Ttc23l A T 15: 10,537,661 (GRCm39) I203N probably benign Het
Vars2 A G 17: 35,969,980 (GRCm39) L803P possibly damaging Het
Vmn2r110 T A 17: 20,794,471 (GRCm39) I733F Het
Xxylt1 T C 16: 30,899,745 (GRCm39) N137D possibly damaging Het
Zc3h13 G A 14: 75,561,042 (GRCm39) R544Q unknown Het
Zfhx4 C T 3: 5,477,198 (GRCm39) T3271I probably benign Het
Zfp943 T A 17: 22,212,392 (GRCm39) C493S possibly damaging 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
R1450:Or51ac3 UTSW 7 103,213,658 (GRCm39) missense probably benign 0.12
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
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'- CACCTCTTTTGCTAAGACTGTGTG -3'
(R):5'- TGTCAGGGTCAACATCATCTATGG -3'

Sequencing Primer
(F):5'- GTGGTTATTTGAGCAAGTTTCCCC -3'
(R):5'- GGGTCAACATCATCTATGGATTGTC -3'
Posted On 2021-12-30