Incidental Mutation 'R5599:Or56a3'
ID 438944
Institutional Source Beutler Lab
Gene Symbol Or56a3
Ensembl Gene ENSMUSG00000096029
Gene Name olfactory receptor family 56 subfamily A member 3
Synonyms MOR40-2, GA_x6K02T2PBJ9-7714499-7715446, Olfr679
MMRRC Submission 043151-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5599 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104734925-104735872 bp(+) (GRCm39)
Type of Mutation splice site (4152 bp from exon)
DNA Base Change (assembly) T to C at 104735757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042676] [ENSMUST00000098158] [ENSMUST00000214328] [ENSMUST00000215704]
AlphaFold Q8VGV0
Predicted Effect probably null
Transcript: ENSMUST00000042676
Predicted Effect possibly damaging
Transcript: ENSMUST00000098158
AA Change: I278T

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095761
Gene: ENSMUSG00000096029
AA Change: I278T

DomainStartEndE-ValueType
Pfam:7tm_4 35 314 1.2e-73 PFAM
Pfam:7TM_GPCR_Srsx 39 311 6.2e-10 PFAM
Pfam:7tm_1 45 296 1.8e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214328
AA Change: I278T

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214738
Predicted Effect possibly damaging
Transcript: ENSMUST00000215704
AA Change: I278T

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T A 7: 78,946,746 (GRCm39) probably null Het
Agpat3 T C 10: 78,110,103 (GRCm39) D282G probably benign Het
Ankhd1 G A 18: 36,693,860 (GRCm39) A24T probably damaging Het
Cracdl T C 1: 37,652,424 (GRCm39) N1128D possibly damaging Het
Cry1 A T 10: 84,980,114 (GRCm39) M398K probably benign Het
Dpp10 A G 1: 123,832,803 (GRCm39) I47T probably damaging Het
Fpr-rs6 C T 17: 20,402,375 (GRCm39) D329N probably benign Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gxylt1 CTCATCCGGGTCAT CTCAT 15: 93,152,198 (GRCm39) probably benign Het
Hnrnpul1 G A 7: 25,454,097 (GRCm39) probably benign Het
Lbx1 T A 19: 45,223,519 (GRCm39) S50C probably damaging Het
Lims2 A G 18: 32,090,324 (GRCm39) N183S probably benign Het
Lrp1 T C 10: 127,429,738 (GRCm39) N444S probably damaging Het
Mast4 A T 13: 102,873,987 (GRCm39) C1626S probably damaging Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Nf2 T C 11: 4,732,269 (GRCm39) E553G probably damaging Het
Nfatc4 A T 14: 56,069,733 (GRCm39) T704S probably benign Het
Or4c3d A G 2: 89,882,563 (GRCm39) V35A probably benign Het
Or7g29 T G 9: 19,286,925 (GRCm39) N84T possibly damaging Het
Or9m1b T G 2: 87,836,349 (GRCm39) I258L probably benign Het
Plekha7 T A 7: 115,776,117 (GRCm39) probably null Het
Polr1a T C 6: 71,944,346 (GRCm39) M1271T possibly damaging Het
Ppip5k2 A G 1: 97,668,323 (GRCm39) M595T probably damaging Het
Ppox A T 1: 171,105,033 (GRCm39) V412D probably damaging Het
Ppp1r12b A G 1: 134,793,645 (GRCm39) V573A probably benign Het
Prkcb T C 7: 122,181,701 (GRCm39) Y430H probably benign Het
Psmd6 A C 14: 14,120,144 (GRCm38) M65R probably benign Het
Rbm12 G A 2: 155,938,713 (GRCm39) R520* probably null Het
Rin3 T C 12: 102,356,188 (GRCm39) F830L probably damaging Het
Sema4b A G 7: 79,863,039 (GRCm39) K104R probably benign Het
Slitrk1 T C 14: 109,149,244 (GRCm39) D489G probably benign Het
Spef2 T C 15: 9,729,789 (GRCm39) T110A possibly damaging Het
Sult2a6 T A 7: 13,988,629 (GRCm39) K44* probably null Het
Tasor A G 14: 27,201,886 (GRCm39) N1427D probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tcstv2c A C 13: 120,616,458 (GRCm39) Q99P probably damaging Het
Tnxb G T 17: 34,909,176 (GRCm39) G1445V probably damaging Het
Tnxb T C 17: 34,909,179 (GRCm39) V1569A probably benign Het
Zcchc2 A G 1: 105,959,880 (GRCm39) D1163G probably damaging Het
Zfp365 C T 10: 67,745,197 (GRCm39) E194K probably damaging Het
Other mutations in Or56a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02247:Or56a3 APN 7 104,735,530 (GRCm39) nonsense probably null
IGL02505:Or56a3 APN 7 104,735,540 (GRCm39) missense probably benign
IGL03160:Or56a3 APN 7 104,735,520 (GRCm39) missense probably damaging 1.00
R0079:Or56a3 UTSW 7 104,735,135 (GRCm39) missense probably damaging 1.00
R2126:Or56a3 UTSW 7 104,735,822 (GRCm39) missense probably damaging 1.00
R2185:Or56a3 UTSW 7 104,735,509 (GRCm39) missense possibly damaging 0.79
R3122:Or56a3 UTSW 7 104,735,385 (GRCm39) missense probably benign 0.00
R3828:Or56a3 UTSW 7 104,735,504 (GRCm39) missense probably benign 0.00
R4235:Or56a3 UTSW 7 104,734,994 (GRCm39) missense possibly damaging 0.71
R4360:Or56a3 UTSW 7 104,735,460 (GRCm39) missense probably damaging 0.99
R4485:Or56a3 UTSW 7 104,735,808 (GRCm39) missense probably damaging 1.00
R4790:Or56a3 UTSW 7 104,735,844 (GRCm39) unclassified probably benign
R5542:Or56a3 UTSW 7 104,735,565 (GRCm39) missense probably damaging 1.00
R5723:Or56a3 UTSW 7 104,740,309 (GRCm39) missense probably damaging 0.99
R5770:Or56a3 UTSW 7 104,740,102 (GRCm39) missense probably damaging 0.99
R5871:Or56a3 UTSW 7 104,735,511 (GRCm39) missense possibly damaging 0.65
R7231:Or56a3 UTSW 7 104,734,994 (GRCm39) missense possibly damaging 0.94
R7593:Or56a3 UTSW 7 104,735,372 (GRCm39) missense probably benign
R7881:Or56a3 UTSW 7 104,735,780 (GRCm39) missense probably damaging 0.98
R8878:Or56a3 UTSW 7 104,735,763 (GRCm39) missense probably damaging 1.00
R8903:Or56a3 UTSW 7 104,735,329 (GRCm39) missense possibly damaging 0.89
R9576:Or56a3 UTSW 7 104,735,760 (GRCm39) missense probably damaging 0.99
R9684:Or56a3 UTSW 7 104,735,589 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCTGGGATCAGACCTATTCC -3'
(R):5'- TCCACATTAGAATGTTCTGAGTTAGTG -3'

Sequencing Primer
(F):5'- GGGATCAGACCTATTCCTCATC -3'
(R):5'- TGCAGTTGGCCTGTTTAC -3'
Posted On 2016-10-26