Incidental Mutation 'R8230:Or56a4'
ID 637102
Institutional Source Beutler Lab
Gene Symbol Or56a4
Ensembl Gene ENSMUSG00000047225
Gene Name olfactory receptor family 56 subfamily A member 4
Synonyms GA_x6K02T2PBJ9-7786441-7785503, Olfr684, MOR40-8P
MMRRC Submission 067662-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R8230 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 104805949-104806887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104806631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 86 (I86T)
Ref Sequence ENSEMBL: ENSMUSP00000055880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060893]
AlphaFold Q7TRN8
Predicted Effect probably damaging
Transcript: ENSMUST00000060893
AA Change: I86T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: I86T

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 4.6e-73 PFAM
Pfam:7TM_GPCR_Srsx 37 307 7e-8 PFAM
Pfam:7tm_1 43 294 1.7e-16 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.9%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,246,904 (GRCm39) Y485H probably benign Het
Actl7a T A 4: 56,743,768 (GRCm39) H98Q probably damaging Het
Adam15 G A 3: 89,252,917 (GRCm39) T267I probably benign Het
Ankrd17 T C 5: 90,391,835 (GRCm39) H1945R possibly damaging Het
Baiap3 A G 17: 25,465,827 (GRCm39) I585T probably benign Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Cbx3 T C 6: 51,452,281 (GRCm39) V32A probably damaging Het
Ccdc127 T C 13: 74,508,751 (GRCm39) F50S unknown Het
Ccdc15 T C 9: 37,226,555 (GRCm39) E473G probably benign Het
Clasp2 A G 9: 113,721,482 (GRCm39) D763G possibly damaging Het
Dab2 T A 15: 6,451,824 (GRCm39) F147I probably damaging Het
Dcaf1 G A 9: 106,735,914 (GRCm39) G954D probably damaging Het
Etv1 T C 12: 38,830,935 (GRCm39) M1T probably null Het
F2r T A 13: 95,741,247 (GRCm39) D96V possibly damaging Het
Fancm A G 12: 65,149,424 (GRCm39) D730G probably benign Het
Fbf1 T C 11: 116,037,565 (GRCm39) I892V probably benign Het
Gbp8 T C 5: 105,198,735 (GRCm39) N60S probably benign Het
Gm12790 T C 4: 101,825,280 (GRCm39) I45V probably benign Het
Herc1 G A 9: 66,377,598 (GRCm39) V3455I probably damaging Het
Hic1 T C 11: 75,056,411 (GRCm39) D826G possibly damaging Het
Hmcn2 A G 2: 31,234,485 (GRCm39) Y300C possibly damaging Het
Ifit1 A G 19: 34,625,068 (GRCm39) Q68R probably benign Het
Igdcc4 A G 9: 65,030,020 (GRCm39) Y309C probably damaging Het
Itpr3 T C 17: 27,326,711 (GRCm39) probably null Het
Kat7 T C 11: 95,168,415 (GRCm39) K414E probably damaging Het
Lmnb2 A T 10: 80,740,982 (GRCm39) L260Q probably damaging Het
Mapk1 T C 16: 16,843,930 (GRCm39) I215T noncoding transcript Het
Ntpcr G T 8: 126,464,159 (GRCm39) probably null Het
Ntrk3 C A 7: 77,900,518 (GRCm39) C607F probably damaging Het
Or10ag54 A T 2: 87,099,545 (GRCm39) H119L probably benign Het
Or5w13 T A 2: 87,523,705 (GRCm39) I174F probably damaging Het
Pcdh15 T C 10: 74,191,707 (GRCm39) V601A probably damaging Het
Plagl2 A G 2: 153,074,239 (GRCm39) C221R probably damaging Het
Shf A G 2: 122,179,968 (GRCm39) Y195H probably damaging Het
Tapbpl T A 6: 125,203,684 (GRCm39) Y332F probably damaging Het
Tbx15 G T 3: 99,259,305 (GRCm39) C392F probably damaging Het
Ubxn7 T C 16: 32,194,094 (GRCm39) L222P probably benign Het
Vsig8 A T 1: 172,389,078 (GRCm39) D222V probably damaging Het
Xirp2 A G 2: 67,346,009 (GRCm39) E2750G probably damaging Het
Zfp870 A G 17: 33,102,663 (GRCm39) V222A possibly damaging Het
Other mutations in Or56a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Or56a4 APN 7 104,806,667 (GRCm39) missense probably benign 0.02
R0056:Or56a4 UTSW 7 104,806,329 (GRCm39) missense probably benign 0.19
R1773:Or56a4 UTSW 7 104,806,190 (GRCm39) missense probably benign 0.01
R2098:Or56a4 UTSW 7 104,806,478 (GRCm39) missense probably benign 0.03
R2295:Or56a4 UTSW 7 104,806,532 (GRCm39) missense probably benign 0.02
R3831:Or56a4 UTSW 7 104,806,589 (GRCm39) missense probably damaging 1.00
R4866:Or56a4 UTSW 7 104,806,514 (GRCm39) missense possibly damaging 0.95
R5058:Or56a4 UTSW 7 104,806,355 (GRCm39) missense probably damaging 1.00
R5504:Or56a4 UTSW 7 104,806,383 (GRCm39) missense probably benign 0.01
R7434:Or56a4 UTSW 7 104,806,106 (GRCm39) missense probably damaging 0.96
R7442:Or56a4 UTSW 7 104,806,289 (GRCm39) missense probably damaging 1.00
R7594:Or56a4 UTSW 7 104,806,880 (GRCm39) missense probably benign
R7759:Or56a4 UTSW 7 104,806,232 (GRCm39) missense probably damaging 1.00
R7787:Or56a4 UTSW 7 104,806,401 (GRCm39) missense probably benign 0.01
R8677:Or56a4 UTSW 7 104,806,775 (GRCm39) missense probably benign 0.04
R9398:Or56a4 UTSW 7 104,806,006 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTGATCAGTGATGACGGTCG -3'
(R):5'- GAAGCTCCCATCTCTGAATTCC -3'

Sequencing Primer
(F):5'- CGGGTACTGTAGAGGCTTACAG -3'
(R):5'- CCAGACCTGGCAGCATTG -3'
Posted On 2020-07-13