Incidental Mutation 'R4235:Or56a3'
ID 368302
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 041052-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4235 (G1)
Quality Score 55
Status Validated
Chromosome 7
Chromosomal Location 104734925-104735872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104734994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 24 (S24T)
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: S24T

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095761
Gene: ENSMUSG00000096029
AA Change: S24T

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: S24T

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214738
Predicted Effect possibly damaging
Transcript: ENSMUST00000215704
AA Change: S24T

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.2692 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (68/70)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
5730596B20Rik G T 6: 52,155,941 (GRCm39) probably benign Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atp7b A G 8: 22,501,039 (GRCm39) Y955H possibly damaging Het
Bnc2 A G 4: 84,211,751 (GRCm39) V231A probably damaging Het
Bod1l A G 5: 41,978,798 (GRCm39) S839P probably damaging Het
Casp8 T A 1: 58,872,857 (GRCm39) H264Q possibly damaging Het
Cc2d1b A T 4: 108,482,549 (GRCm39) probably benign Het
Cpne6 A T 14: 55,751,057 (GRCm39) probably benign Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dgkd T A 1: 87,859,704 (GRCm39) L774* probably null Het
Fbxl2 T A 9: 113,818,231 (GRCm39) N205I probably benign Het
Fcgbpl1 T A 7: 27,856,073 (GRCm39) D1953E probably damaging Het
Fkbp15 A T 4: 62,254,693 (GRCm39) I269K probably benign Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Has1 G T 17: 18,070,298 (GRCm39) R208S possibly damaging Het
Hecw1 C G 13: 14,491,724 (GRCm39) A423P probably benign Het
Hspa12b T C 2: 130,980,932 (GRCm39) V162A probably benign Het
Ifi208 T G 1: 173,510,477 (GRCm39) S211A probably benign Het
Ighv6-3 T C 12: 114,355,494 (GRCm39) E65G probably damaging Het
Igkv9-120 A T 6: 68,027,317 (GRCm39) D77V probably benign Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kdm2a A G 19: 4,372,549 (GRCm39) I932T probably damaging Het
Krt17 T C 11: 100,148,694 (GRCm39) T279A possibly damaging Het
Lamp1 T C 8: 13,217,192 (GRCm39) V67A possibly damaging Het
Limk1 T C 5: 134,699,332 (GRCm39) I142V probably benign Het
Mamdc2 T C 19: 23,351,381 (GRCm39) N182D possibly damaging Het
Mcpt1 G A 14: 56,256,017 (GRCm39) probably null Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mfsd10 G T 5: 34,792,969 (GRCm39) T44N probably damaging Het
Mrps27 T C 13: 99,541,549 (GRCm39) S218P probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Neil2 A C 14: 63,429,290 (GRCm39) M1R probably null Het
Nelfcd T C 2: 174,268,841 (GRCm39) F587L probably damaging Het
Nfil3 T C 13: 53,122,835 (GRCm39) D23G probably benign Het
Nit2 T C 16: 56,977,523 (GRCm39) K169R probably benign Het
Nxt1 T C 2: 148,517,267 (GRCm39) S3P probably benign Het
Ogt A G X: 100,711,131 (GRCm39) N434D probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pramel25 G C 4: 143,521,344 (GRCm39) C320S probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rsl1 T C 13: 67,325,226 (GRCm39) probably null Het
Sobp G A 10: 42,898,896 (GRCm39) H230Y probably damaging Het
Sptan1 A G 2: 29,916,600 (GRCm39) E2096G probably damaging Het
Tie1 G T 4: 118,335,602 (GRCm39) S797* probably null Het
Tmem266 T C 9: 55,325,391 (GRCm39) I186T probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tnfaip6 T C 2: 51,940,876 (GRCm39) F139S probably damaging Het
Tnrc6a T C 7: 122,770,903 (GRCm39) S898P probably benign Het
Trim24 A G 6: 37,941,675 (GRCm39) D911G probably damaging Het
Tyw5 T C 1: 57,427,647 (GRCm39) probably benign Het
Ubr3 C T 2: 69,846,729 (GRCm39) Q1651* probably null Het
Unc13c T A 9: 73,438,234 (GRCm39) I1943F possibly damaging Het
Usp47 T A 7: 111,709,255 (GRCm39) S1334T probably damaging Het
Vmn1r215 T A 13: 23,260,101 (GRCm39) V47E probably benign Het
Vmn1r224 T A 17: 20,639,624 (GRCm39) M67K possibly damaging Het
Wdfy3 T A 5: 102,070,500 (GRCm39) probably null Het
Zfc3h1 T C 10: 115,254,704 (GRCm39) Y1433H probably benign 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
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'- CAGTTGACTTGGATAACCTGCTAC -3'
(R):5'- CTAGTACCTTGGGGATGACAGTG -3'

Sequencing Primer
(F):5'- GACTTGGATAACCTGCTACAATTG -3'
(R):5'- CAGTGAGGCAGAGTATGATGTCC -3'
Posted On 2016-01-22