Incidental Mutation 'R4827:Or51ac3'
ID 372502
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 042443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4827 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103213531-103214484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103213752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 245 (S245T)
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: S245T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102499
Gene: ENSMUSG00000047544
AA Change: S245T

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: S245T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000215673
Predicted Effect probably damaging
Transcript: ENSMUST00000217293
AA Change: S245T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.5751 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (67/70)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A G 12: 88,413,489 (GRCm39) R274G probably benign Het
Agbl5 T G 5: 31,053,158 (GRCm39) S83R probably damaging Het
Ankib1 A G 5: 3,751,907 (GRCm39) I711T probably damaging Het
Arnt T A 3: 95,397,224 (GRCm39) probably null Het
Atad2 C G 15: 57,971,744 (GRCm39) V702L probably benign Het
B4galnt4 A G 7: 140,648,392 (GRCm39) E636G probably benign Het
Btbd2 A G 10: 80,482,223 (GRCm39) I244T probably damaging Het
Cenpc1 A T 5: 86,182,290 (GRCm39) N531K possibly damaging Het
Ces3b T A 8: 105,813,527 (GRCm39) M266K probably benign Het
Cfap54 A T 10: 92,737,937 (GRCm39) probably benign Het
Coq8a A G 1: 179,994,903 (GRCm39) V590A possibly damaging Het
Drc7 A G 8: 95,798,267 (GRCm39) Y504C probably damaging Het
Elovl4 T C 9: 83,688,091 (GRCm39) M1V probably null Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Fads2 A G 19: 10,059,958 (GRCm39) F239L probably benign Het
Gcc2 A T 10: 58,121,953 (GRCm39) probably null Het
Ggact C T 14: 123,128,987 (GRCm39) R76H probably benign Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm3739 A T 14: 18,506,218 (GRCm39) F13I probably damaging Het
Gng2 T C 14: 19,925,898 (GRCm39) K65E possibly damaging Het
Gnmt A G 17: 47,038,245 (GRCm39) Y94H possibly damaging Het
Gzme C A 14: 56,356,755 (GRCm39) R69M probably null Het
Hdc G A 2: 126,436,233 (GRCm39) P546L probably benign Het
Ibtk C A 9: 85,610,607 (GRCm39) V326F probably benign Het
Inpp5b G T 4: 124,637,643 (GRCm39) probably benign Het
Kcnh7 A T 2: 62,546,564 (GRCm39) C1006S probably benign Het
Kcnk18 A T 19: 59,208,362 (GRCm39) N66I probably damaging Het
Lpar6 T A 14: 73,476,190 (GRCm39) N50K probably damaging Het
Lrba G T 3: 86,267,457 (GRCm39) D1716Y possibly damaging Het
Ltf T A 9: 110,856,445 (GRCm39) probably benign Het
Map3k6 A G 4: 132,976,160 (GRCm39) T794A possibly damaging Het
Mcm8 A G 2: 132,665,174 (GRCm39) T217A probably damaging Het
Meaf6 A G 4: 124,996,713 (GRCm39) E141G probably damaging Het
Mmp13 A G 9: 7,278,880 (GRCm39) T324A possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Msl2 T G 9: 100,979,350 (GRCm39) F575V probably benign Het
Ncoa4-ps C T 12: 119,225,529 (GRCm39) noncoding transcript Het
Nlrp2 A T 7: 5,331,950 (GRCm39) W149R possibly damaging Het
Ntng1 C A 3: 110,042,727 (GRCm39) C33F probably damaging Het
Nxn A G 11: 76,152,418 (GRCm39) Y359H probably benign Het
Olfml2a A C 2: 38,850,033 (GRCm39) D583A probably damaging Het
Or12j5 A C 7: 140,083,583 (GRCm39) L263R probably damaging Het
Or1e32 A T 11: 73,705,547 (GRCm39) Y120* probably null Het
Or2t48 A G 11: 58,420,422 (GRCm39) I130T probably damaging Het
Or4b1b A T 2: 90,112,547 (GRCm39) I124N probably damaging Het
Pcdha4 T C 18: 37,086,251 (GRCm39) S145P probably damaging Het
Pcsk2 A T 2: 143,643,099 (GRCm39) K459* probably null Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Plch2 A G 4: 155,075,570 (GRCm39) F653S probably damaging Het
Plpp3 T C 4: 105,088,167 (GRCm39) I296T probably benign Het
Polr2b A G 5: 77,490,398 (GRCm39) E846G probably benign Het
Ptpro A T 6: 137,419,708 (GRCm39) N157Y probably damaging Het
Ralgapa1 A G 12: 55,723,222 (GRCm39) L1815P probably damaging Het
Sap18 A G 14: 58,036,020 (GRCm39) N69D probably damaging Het
Sncg C A 14: 34,095,284 (GRCm39) V74F probably damaging Het
Spata31e2 T C 1: 26,724,923 (GRCm39) K86E possibly damaging Het
Spmip4 A C 6: 50,572,836 (GRCm39) S26A possibly damaging Het
Tmem186 A T 16: 8,453,681 (GRCm39) Y193* probably null Het
Trrap A G 5: 144,737,758 (GRCm39) S1045G probably benign Het
Tti2 T G 8: 31,640,998 (GRCm39) S41A probably benign Het
Unc13c T C 9: 73,838,568 (GRCm39) E761G probably damaging Het
Vamp2 T A 11: 68,980,637 (GRCm39) D68E probably benign Het
Vmn1r200 A T 13: 22,579,265 (GRCm39) M14L probably benign Het
Vps35 T A 8: 86,000,186 (GRCm39) D480V possibly damaging Het
Zfp462 T C 4: 55,012,213 (GRCm39) L1393P probably damaging Het
Zfp512 G A 5: 31,630,158 (GRCm39) M274I probably benign Het
Znfx1 C G 2: 166,886,151 (GRCm39) G803A 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
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'- GTTATTTGAGCAAGTTTCCCCAAAC -3'
(R):5'- ATCATGAAGCTGGCCTGTGG -3'

Sequencing Primer
(F):5'- CCCCAAACTTTAAATATTTTGCACAC -3'
(R):5'- GGTCCTGTCAGGGTCAACATCATC -3'
Posted On 2016-03-01