Incidental Mutation 'R0079:Or56a3'
ID 19613
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 038366-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0079 (G1)
Quality Score 6.97
Status Validated
Chromosome 7
Chromosomal Location 104734925-104735872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104735135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 71 (S71P)
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 probably damaging
Transcript: ENSMUST00000098158
AA Change: S71P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095761
Gene: ENSMUSG00000096029
AA Change: S71P

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 probably damaging
Transcript: ENSMUST00000214328
AA Change: S71P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214738
Predicted Effect probably damaging
Transcript: ENSMUST00000215704
AA Change: S71P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7229 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.4%
  • 20x: 90.7%
Validation Efficiency 78% (155/199)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T A 12: 17,057,183 (GRCm39) T105S possibly damaging Het
Abca13 G A 11: 9,243,493 (GRCm39) M1785I probably benign Het
Adamts3 G C 5: 89,840,912 (GRCm39) P804A probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Ank2 G T 3: 126,728,264 (GRCm39) D776E probably benign Het
Cep152 T A 2: 125,460,373 (GRCm39) K193M possibly damaging Het
Cep55 C T 19: 38,048,769 (GRCm39) L142F probably benign Het
Chd5 A G 4: 152,470,206 (GRCm39) Y1884C probably damaging Het
Clasp1 T C 1: 118,471,034 (GRCm39) L890P probably damaging Het
Cul9 C A 17: 46,848,589 (GRCm39) E716* probably null Het
Cytip T A 2: 58,050,006 (GRCm39) D21V probably benign Het
Denr T G 5: 124,062,908 (GRCm39) F137C probably damaging Het
Dhrs3 A T 4: 144,646,618 (GRCm39) S197C probably damaging Het
Egr4 A T 6: 85,489,751 (GRCm39) M103K probably damaging Het
Eif4enif1 C T 11: 3,192,676 (GRCm39) Q835* probably null Het
Gckr A G 5: 31,463,883 (GRCm39) I268V probably benign Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Hpd T C 5: 123,319,544 (GRCm39) Y8C probably damaging Het
Il12rb2 A T 6: 67,338,889 (GRCm39) F16I probably benign Het
Ildr2 A T 1: 166,135,289 (GRCm39) Y347F probably damaging Het
Kcnv1 T C 15: 44,976,729 (GRCm39) D186G probably damaging Het
Khdrbs2 A G 1: 32,558,996 (GRCm39) probably null Het
L1cam G T X: 72,913,364 (GRCm39) P16H probably damaging Het
Lyn A G 4: 3,746,768 (GRCm39) H161R probably damaging Het
Mctp2 T A 7: 71,863,864 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mitf A C 6: 97,973,401 (GRCm39) M220L probably benign Het
Mrpl21 T C 19: 3,334,807 (GRCm39) Y50H possibly damaging Het
Myh1 T A 11: 67,104,237 (GRCm39) L968Q probably damaging Het
Myo3b A G 2: 69,925,502 (GRCm39) K18E possibly damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nlrp2 T A 7: 5,330,729 (GRCm39) T556S possibly damaging Het
Nsmf T C 2: 24,949,096 (GRCm39) probably benign Het
Nsun7 C T 5: 66,452,856 (GRCm39) P558S probably benign Het
Or10h5 G A 17: 33,435,079 (GRCm39) R80C probably benign Het
Or1e34 T G 11: 73,778,563 (GRCm39) I212L probably benign Het
Or5d40 A T 2: 88,015,698 (GRCm39) Y159F possibly damaging Het
Phf19 T C 2: 34,785,966 (GRCm39) N501S probably benign Het
Ranbp17 A C 11: 33,450,682 (GRCm39) I85S probably damaging Het
Robo1 A G 16: 72,730,230 (GRCm39) probably benign Het
Sntg1 A G 1: 8,749,286 (GRCm39) probably benign Het
Snx15 A G 19: 6,173,943 (GRCm39) L58P probably damaging Het
Spink5 G T 18: 44,110,831 (GRCm39) C134F probably damaging Het
Strip2 T C 6: 29,920,532 (GRCm39) probably null Het
Taf1d C T 9: 15,221,240 (GRCm39) A182V probably benign Het
Tenm3 A G 8: 48,796,380 (GRCm39) V475A possibly damaging Het
Tent4b T A 8: 88,926,631 (GRCm39) Y14N possibly damaging Het
Tgds A T 14: 118,353,647 (GRCm39) H223Q possibly damaging Het
Thoc2 G T X: 40,952,985 (GRCm39) S230Y probably benign Het
Tm9sf4 T A 2: 153,033,065 (GRCm39) V290E probably damaging Het
Trak2 A T 1: 58,965,883 (GRCm39) L97Q probably damaging Het
Trnau1ap A G 4: 132,041,656 (GRCm39) Y145H probably damaging Het
Vars2 A T 17: 35,970,048 (GRCm39) D780E probably damaging Het
Vmn1r170 T A 7: 23,305,735 (GRCm39) S46T possibly damaging Het
Vmn1r20 A T 6: 57,408,777 (GRCm39) R34S possibly damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Wdr64 T C 1: 175,622,668 (GRCm39) M805T probably benign Het
Xdh G A 17: 74,198,213 (GRCm39) R1225C probably damaging Het
Zfp341 T A 2: 154,466,914 (GRCm39) Y94* probably null Het
Zfp641 T C 15: 98,186,970 (GRCm39) N218D probably benign Het
Zscan22 T C 7: 12,638,014 (GRCm39) probably null 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
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
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'- ACGTACAGATAAATCCTGCTGCTTCAG -3'
(R):5'- AACATTTCTCCCACAGTAATGGAGTCG -3'

Sequencing Primer
(F):5'- GTTGACTTGGATAACCTGCTAC -3'
(R):5'- GCCGCCTTGACTACAAATTGG -3'
Posted On 2013-04-11