Incidental Mutation 'R2026:Or51ac3'
ID 220619
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R2026 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103213531-103214484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103214084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 134 (Y134F)
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 damaging
Transcript: ENSMUST00000106886
AA Change: Y134F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102499
Gene: ENSMUSG00000047544
AA Change: Y134F

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 damaging
Transcript: ENSMUST00000214806
AA Change: Y134F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215673
Predicted Effect probably damaging
Transcript: ENSMUST00000217293
AA Change: Y134F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,880,205 (GRCm39) K269R probably benign Het
Abcc12 A G 8: 87,284,862 (GRCm39) V251A probably benign Het
Avil G A 10: 126,847,742 (GRCm39) G556S probably damaging Het
C3 T C 17: 57,525,562 (GRCm39) Y898C probably damaging Het
Cacng2 A G 15: 77,879,720 (GRCm39) F201L possibly damaging Het
Casp7 T A 19: 56,424,830 (GRCm39) I183N probably damaging Het
Cntn3 A T 6: 102,397,388 (GRCm39) W62R probably damaging Het
Ctrb1 T C 8: 112,415,317 (GRCm39) N119S probably benign Het
Cyp3a59 G A 5: 146,033,098 (GRCm39) V157M probably damaging Het
Dhfr G T 13: 92,502,279 (GRCm39) G117* probably null Het
Dido1 A T 2: 180,330,974 (GRCm39) L158* probably null Het
Dlg2 C A 7: 91,614,931 (GRCm39) P290Q probably damaging Het
Dnah3 T A 7: 119,638,629 (GRCm39) Q1240L probably damaging Het
Exd1 A T 2: 119,350,786 (GRCm39) S492T probably benign Het
Fermt1 T C 2: 132,760,445 (GRCm39) I415M probably benign Het
Fsip2 A G 2: 82,819,788 (GRCm39) T5174A possibly damaging Het
Fuca2 T G 10: 13,388,391 (GRCm39) V389G probably damaging Het
Gm14412 A T 2: 177,008,898 (GRCm39) H50Q possibly damaging Het
Gm5129 G A 5: 29,940,732 (GRCm39) probably benign Het
Hif3a T C 7: 16,778,322 (GRCm39) R437G possibly damaging Het
Hook3 T C 8: 26,528,126 (GRCm39) E588G probably damaging Het
Hs1bp3 A G 12: 8,387,738 (GRCm39) E301G probably benign Het
Icam2 A G 11: 106,273,268 (GRCm39) F15L probably benign Het
Ice2 T C 9: 69,323,607 (GRCm39) S701P probably benign Het
Igf2bp1 A G 11: 95,864,996 (GRCm39) V151A possibly damaging Het
Lig4 A T 8: 10,022,436 (GRCm39) L448Q probably damaging Het
Man2b1 G C 8: 85,821,964 (GRCm39) W726C probably damaging Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Msh6 C T 17: 88,297,771 (GRCm39) H1264Y probably damaging Het
Ncoa1 A T 12: 4,317,647 (GRCm39) S1228R probably benign Het
Ndufa10 A G 1: 92,367,614 (GRCm39) Y339H probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nutm2 A G 13: 50,628,856 (GRCm39) H640R probably benign Het
Or11i1 T C 3: 106,729,027 (GRCm39) I283V probably benign Het
Or2t1 T C 14: 14,328,891 (GRCm38) V260A probably benign Het
Or5b123 T A 19: 13,596,945 (GRCm39) C140S probably damaging Het
Or5w1b G T 2: 87,475,753 (GRCm39) A238E probably damaging Het
Or6c211 T A 10: 129,506,334 (GRCm39) D18V probably damaging Het
Pde1c C T 6: 56,157,175 (GRCm39) V162I probably damaging Het
Pdss2 A T 10: 43,269,871 (GRCm39) N238I possibly damaging Het
Pfas C T 11: 68,884,783 (GRCm39) G473E probably damaging Het
Pkn1 A G 8: 84,398,007 (GRCm39) V795A probably damaging Het
Polq A G 16: 36,883,107 (GRCm39) D1757G possibly damaging Het
Popdc3 T C 10: 45,190,951 (GRCm39) W21R probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rfc1 G T 5: 65,445,372 (GRCm39) T412K probably damaging Het
Sap130 T C 18: 31,831,627 (GRCm39) S706P possibly damaging Het
Scgn T C 13: 24,175,047 (GRCm39) probably benign Het
Smad7 T C 18: 75,527,225 (GRCm39) V357A probably damaging Het
Snrnp48 G T 13: 38,393,862 (GRCm39) A56S possibly damaging Het
Sptbn1 G T 11: 30,054,559 (GRCm39) A2178E probably benign Het
Syn2 C T 6: 115,255,212 (GRCm39) T508I probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Trpm7 T C 2: 126,654,658 (GRCm39) K1427E probably benign Het
Trrap A G 5: 144,739,854 (GRCm39) I1118V possibly damaging Het
Tslp A T 18: 32,948,725 (GRCm39) I37L probably benign Het
Ttll3 G A 6: 113,375,731 (GRCm39) V297M probably damaging Het
Ttn T C 2: 76,540,713 (GRCm39) D34091G possibly damaging Het
Txndc11 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 10,952,338 (GRCm39) probably benign Het
Ube3a T C 7: 58,953,474 (GRCm39) F803L probably damaging Het
Ubn1 A G 16: 4,882,514 (GRCm39) E325G probably damaging Het
Wfikkn2 A G 11: 94,129,779 (GRCm39) W121R possibly damaging Het
Zfp579 C A 7: 4,996,520 (GRCm39) E464* probably null Het
Zfp616 A T 11: 73,974,413 (GRCm39) L227F 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
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'- CCATAGATGATGTTGACCCTGAC -3'
(R):5'- TGGCAGCTACAGATGTTGGTC -3'

Sequencing Primer
(F):5'- ATGATGTTGACCCTGACAGGACC -3'
(R):5'- ACAGATGTTGGTCTCTCTGTATCAAC -3'
Posted On 2014-08-25