Incidental Mutation 'R2185:Or56a3'
ID 237825
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 040187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104734925-104735872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104735509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 195 (D195E)
Ref Sequence ENSEMBL: ENSMUSP00000149116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042676] [ENSMUST00000098158] [ENSMUST00000214328] [ENSMUST00000215704]
AlphaFold Q8VGV0
Predicted Effect probably benign
Transcript: ENSMUST00000042676
Predicted Effect possibly damaging
Transcript: ENSMUST00000098158
AA Change: D195E

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095761
Gene: ENSMUSG00000096029
AA Change: D195E

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: D195E

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214738
Predicted Effect possibly damaging
Transcript: ENSMUST00000215704
AA Change: D195E

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1949 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly 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
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
R5599:Or56a3 UTSW 7 104,735,757 (GRCm39) splice site probably null
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'- TAGCCATCTGTCACCCACTG -3'
(R):5'- TCCTCTTAGCTACATGTGTGAG -3'

Sequencing Primer
(F):5'- TGAGATATCCATCCATCATCACTG -3'
(R):5'- TAGCTACATGTGTGAGGATAAAAACC -3'
Posted On 2014-10-02