Incidental Mutation 'R4359:Or51ac3'
ID 324804
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 041670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4359 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103213531-103214484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103213742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 248 (F248S)
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: F248S

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102499
Gene: ENSMUSG00000047544
AA Change: F248S

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: F248S

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000215673
Predicted Effect probably benign
Transcript: ENSMUST00000217293
AA Change: F248S

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,247,629 (GRCm39) V2459F probably benign Het
Acot1 T C 12: 84,061,314 (GRCm39) Y207H probably damaging Het
Anapc1 A G 2: 128,465,476 (GRCm39) V1668A possibly damaging Het
Atr T A 9: 95,833,589 (GRCm39) I2613N probably damaging Het
Baz2b A G 2: 59,731,957 (GRCm39) I2027T possibly damaging Het
C2cd3 T G 7: 100,090,296 (GRCm39) H466Q probably damaging Het
Cdc14b T A 13: 64,396,225 (GRCm39) I15F probably benign Het
Cep135 G T 5: 76,759,561 (GRCm39) K438N possibly damaging Het
Cnot1 T C 8: 96,466,476 (GRCm39) D1587G probably damaging Het
Cxcl16 C A 11: 70,349,631 (GRCm39) V65L possibly damaging Het
Dhx36 T A 3: 62,382,699 (GRCm39) T783S probably benign Het
Disp3 T C 4: 148,356,389 (GRCm39) N157S probably benign Het
Efcab3 G T 11: 104,624,547 (GRCm39) probably null Het
Fem1al A T 11: 29,774,669 (GRCm39) S263T probably benign Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Grin3b T A 10: 79,808,731 (GRCm39) D160E probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Htr1b C A 9: 81,514,404 (GRCm39) A68S probably benign Het
Ifit2 A T 19: 34,550,544 (GRCm39) D28V possibly damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Klhl25 T C 7: 75,516,480 (GRCm39) V462A probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
L3mbtl3 A G 10: 26,203,639 (GRCm39) V397A unknown Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp1b A C 2: 40,793,077 (GRCm39) C2532W probably damaging Het
Malt1 T C 18: 65,609,300 (GRCm39) V768A probably benign Het
Mindy3 A T 2: 12,401,020 (GRCm39) W233R probably damaging Het
Ncor1 T C 11: 62,249,736 (GRCm39) K1054R probably damaging Het
Nin T A 12: 70,061,712 (GRCm39) T2051S probably benign Het
Or10j5 C A 1: 172,784,647 (GRCm39) A95E probably benign Het
Pcsk1 T C 13: 75,260,838 (GRCm39) S354P possibly damaging Het
Pilra T C 5: 137,829,576 (GRCm39) T160A probably benign Het
Plekha5 G C 6: 140,537,414 (GRCm39) E540D probably benign Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Stxbp4 C T 11: 90,385,470 (GRCm39) W506* probably null Het
Timeless C A 10: 128,083,211 (GRCm39) Q653K probably benign Het
Trio G A 15: 27,749,883 (GRCm39) Q1129* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zzef1 T A 11: 72,714,334 (GRCm39) S275T probably 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
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'- TGGTTATTTGAGCAAGTTTCCC -3'
(R):5'- CATCATGAAGCTGGCCTGTG -3'

Sequencing Primer
(F):5'- TTTGAGCAAGTTTCCCCAAAC -3'
(R):5'- GGTCCTGTCAGGGTCAACATCATC -3'
Posted On 2015-07-06