Incidental Mutation 'R0056:Or56a4'
ID 16999
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 038350-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R0056 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 104805949-104806887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104806329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 187 (S187P)
Ref Sequence ENSEMBL: ENSMUSP00000150107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060893] [ENSMUST00000215552] [ENSMUST00000215744] [ENSMUST00000217136]
AlphaFold Q7TRN8
Predicted Effect probably benign
Transcript: ENSMUST00000060893
AA Change: S187P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: S187P

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
Predicted Effect probably benign
Transcript: ENSMUST00000215552
AA Change: S187P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000215744
AA Change: S187P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000217136
AA Change: S187P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.2794 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,540 (GRCm39) C561* probably null Het
Ankfn1 A G 11: 89,282,502 (GRCm39) S1061P possibly damaging Het
Atp9b A G 18: 80,809,018 (GRCm39) S634P probably damaging Het
Bche A T 3: 73,608,654 (GRCm39) N257K possibly damaging Het
Bms1 A T 6: 118,382,190 (GRCm39) D449E probably benign Het
C630050I24Rik G T 8: 107,846,026 (GRCm39) V59F unknown Het
Camkk2 C T 5: 122,880,261 (GRCm39) E452K probably damaging Het
Ccdc121rt1 T C 1: 181,338,118 (GRCm39) Y278C probably damaging Het
Chd9 A G 8: 91,660,165 (GRCm39) H375R possibly damaging Het
Entpd7 T A 19: 43,713,733 (GRCm39) V364E probably benign Het
Epb41l3 A T 17: 69,560,392 (GRCm39) D313V probably damaging Het
Etv6 G T 6: 134,225,497 (GRCm39) E154* probably null Het
Fshr T G 17: 89,295,885 (GRCm39) H274P probably damaging Het
G3bp1 A G 11: 55,388,867 (GRCm39) N360D probably benign Het
Gdf11 C T 10: 128,722,294 (GRCm39) R187H probably benign Het
Gpihbp1 T A 15: 75,468,982 (GRCm39) I52N probably damaging Het
H1f8 G T 6: 115,923,934 (GRCm39) probably benign Het
Htt T C 5: 34,983,422 (GRCm39) probably benign Het
Iqcm A G 8: 76,480,014 (GRCm39) Q324R probably benign Het
Kcng3 A G 17: 83,895,185 (GRCm39) L427P probably damaging Het
Klk7 T C 7: 43,461,434 (GRCm39) L17P possibly damaging Het
Klrd1 G A 6: 129,570,738 (GRCm39) V50I probably benign Het
Lama5 A T 2: 179,828,899 (GRCm39) probably benign Het
Lamtor3 T A 3: 137,632,711 (GRCm39) probably benign Het
Lyplal1 G A 1: 185,820,763 (GRCm39) T228I probably benign Het
Mapk6 A G 9: 75,296,098 (GRCm39) Y467H possibly damaging Het
Marchf6 T C 15: 31,467,880 (GRCm39) T776A possibly damaging Het
Mogat1 T G 1: 78,500,407 (GRCm39) M157R probably damaging Het
Morc2b T A 17: 33,357,733 (GRCm39) Q13L possibly damaging Het
Myo1h C T 5: 114,468,273 (GRCm39) T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 (GRCm38) probably null Het
Nobox A G 6: 43,281,853 (GRCm39) C407R probably benign Het
Nup58 A G 14: 60,476,924 (GRCm39) probably null Het
Otoa A G 7: 120,730,570 (GRCm39) Y590C probably benign Het
Pelp1 A T 11: 70,284,658 (GRCm39) V1070E unknown Het
Pglyrp3 G T 3: 91,933,111 (GRCm39) probably benign Het
Plpp2 A G 10: 79,363,063 (GRCm39) F189S probably damaging Het
Polr2b T C 5: 77,482,382 (GRCm39) I640T possibly damaging Het
Ryr2 T A 13: 11,683,924 (GRCm39) T3047S probably damaging Het
Snx25 A T 8: 46,491,550 (GRCm39) W847R probably damaging Het
Son T C 16: 91,475,043 (GRCm39) Y454H possibly damaging Het
Sos1 A T 17: 80,721,050 (GRCm39) N923K probably damaging Het
Tex15 A G 8: 34,072,055 (GRCm39) H2534R probably benign Het
Ticam2 G T 18: 46,693,401 (GRCm39) Q229K possibly damaging Het
Tnfaip3 A T 10: 18,881,041 (GRCm39) V342E probably damaging Het
Traf6 A G 2: 101,527,496 (GRCm39) I415M possibly damaging Het
Trpm1 A G 7: 63,893,334 (GRCm39) D1062G probably damaging Het
Wdr59 C T 8: 112,207,239 (GRCm39) probably benign Het
Other mutations in Or56a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Or56a4 APN 7 104,806,667 (GRCm39) missense probably benign 0.02
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
R8230:Or56a4 UTSW 7 104,806,631 (GRCm39) missense probably damaging 0.99
R8677:Or56a4 UTSW 7 104,806,775 (GRCm39) missense probably benign 0.04
R9398:Or56a4 UTSW 7 104,806,006 (GRCm39) nonsense probably null
Posted On 2013-01-20