Incidental Mutation 'R8677:Or56a4'
ID 661448
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 068532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R8677 (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 104806775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 38 (L38P)
Ref Sequence ENSEMBL: ENSMUSP00000149627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060893] [ENSMUST00000215552] [ENSMUST00000215744] [ENSMUST00000217136]
AlphaFold Q7TRN8
Predicted Effect probably benign
Transcript: ENSMUST00000060893
AA Change: L38P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: L38P

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: L38P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000215744
AA Change: L38P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000217136
AA Change: L38P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd A C 8: 106,427,576 (GRCm39) S25R probably damaging Het
Acly A T 11: 100,410,569 (GRCm39) H136Q probably damaging Het
Adrm1 C T 2: 179,813,832 (GRCm39) T2M probably benign Het
Ankrd12 A T 17: 66,331,209 (GRCm39) L246M probably damaging Het
Bltp2 C T 11: 78,174,982 (GRCm39) R1706C probably damaging Het
Cacnb3 T C 15: 98,539,931 (GRCm39) L258P probably damaging Het
Cd36 C T 5: 18,025,493 (GRCm39) V76M probably damaging Het
Cep120 A G 18: 53,871,633 (GRCm39) F80L possibly damaging Het
Clcn1 A T 6: 42,267,519 (GRCm39) probably null Het
Col17a1 T C 19: 47,640,240 (GRCm39) T1042A probably benign Het
Comp A T 8: 70,832,910 (GRCm39) N623Y probably damaging Het
Ctnnal1 A G 4: 56,813,272 (GRCm39) L653P probably benign Het
Cx3cl1 G T 8: 95,506,443 (GRCm39) R149S probably benign Het
Dbndd2 T A 2: 164,330,522 (GRCm39) N58K probably damaging Het
Dclk1 A G 3: 55,409,840 (GRCm39) I595V probably damaging Het
Dhx15 T C 5: 52,341,886 (GRCm39) D144G probably benign Het
Dlat T C 9: 50,570,007 (GRCm39) E120G probably damaging Het
Fam171a1 T A 2: 3,221,352 (GRCm39) Y273N probably damaging Het
Fndc3b A T 3: 27,511,176 (GRCm39) V778D probably benign Het
Grn T C 11: 102,324,393 (GRCm39) S129P possibly damaging Het
Grxcr1 T C 5: 68,267,757 (GRCm39) F169L possibly damaging Het
Hcn2 A G 10: 79,560,619 (GRCm39) I317V probably benign Het
Heca T C 10: 17,791,424 (GRCm39) N211D probably benign Het
Htr1f T C 16: 64,746,414 (GRCm39) T293A possibly damaging Het
Ifitm10 T A 7: 141,909,749 (GRCm39) I116F probably benign Het
Itprid1 A G 6: 55,849,579 (GRCm39) H37R probably benign Het
Ivl A T 3: 92,479,986 (GRCm39) D26E probably benign Het
Kcnma1 T A 14: 23,436,418 (GRCm39) E761V probably benign Het
Ltbp1 G T 17: 75,655,753 (GRCm39) V923F probably benign Het
Mfsd4b2 A T 10: 39,799,805 (GRCm39) F32L probably benign Het
Micu2 T C 14: 58,161,420 (GRCm39) R301G possibly damaging Het
Miip C T 4: 147,947,503 (GRCm39) C219Y probably damaging Het
Mn1 T A 5: 111,566,885 (GRCm39) L285* probably null Het
Mthfd1l T A 10: 3,998,250 (GRCm39) N664K possibly damaging Het
Mttp A T 3: 137,810,437 (GRCm39) H659Q probably benign Het
Myadml2 G A 11: 120,538,815 (GRCm39) P7S probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nlrp4c C T 7: 6,075,644 (GRCm39) T645I probably damaging Het
Notch1 C T 2: 26,359,936 (GRCm39) V1260I probably damaging Het
Numa1 T C 7: 101,650,148 (GRCm39) L1293P probably damaging Het
Or1a1 A T 11: 74,086,415 (GRCm39) I29F probably benign Het
Pcdh12 G T 18: 38,415,191 (GRCm39) H645N probably benign Het
Pdcd1 A T 1: 93,968,952 (GRCm39) L122H probably damaging Het
Pknox2 G A 9: 36,821,887 (GRCm39) P246L probably damaging Het
Polr2a A T 11: 69,626,381 (GRCm39) S1590T possibly damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Proser1 A G 3: 53,385,122 (GRCm39) T335A probably benign Het
Ptprc A G 1: 138,011,335 (GRCm39) I598T probably damaging Het
Rasal3 T C 17: 32,615,828 (GRCm39) T337A probably benign Het
Rasgrp3 A T 17: 75,819,055 (GRCm39) T415S probably benign Het
Rbm7 T A 9: 48,401,273 (GRCm39) R152* probably null Het
Sanbr T C 11: 23,545,471 (GRCm39) D474G probably benign Het
Sf3b2 C T 19: 5,336,257 (GRCm39) R513H probably damaging Het
Slc22a30 A G 19: 8,364,035 (GRCm39) S214P probably benign Het
Spam1 A G 6: 24,796,984 (GRCm39) T312A probably benign Het
Ssh2 A G 11: 77,346,019 (GRCm39) T1335A possibly damaging Het
Tef T A 15: 81,699,169 (GRCm39) L59Q probably damaging Het
Tmem131l A C 3: 83,836,009 (GRCm39) V700G probably damaging Het
Twsg1 A G 17: 66,233,402 (GRCm39) S183P probably damaging Het
Unc13c T C 9: 73,840,243 (GRCm39) T203A probably benign Het
Uqcc6 G T 10: 82,456,050 (GRCm39) T37K possibly damaging Het
Vmn2r75 G T 7: 85,814,410 (GRCm39) P361Q possibly damaging Het
Xirp2 A T 2: 67,346,978 (GRCm39) N3073I probably damaging Het
Zfp114 A G 7: 23,880,070 (GRCm39) N140D probably benign 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
R8230:Or56a4 UTSW 7 104,806,631 (GRCm39) missense probably damaging 0.99
R9398:Or56a4 UTSW 7 104,806,006 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGTTCATGACAAACATCTGGAGG -3'
(R):5'- TTCAAGCGGGATGGAAACTTG -3'

Sequencing Primer
(F):5'- CATGACAAACATCTGGAGGAAGCAG -3'
(R):5'- CGGGATGGAAACTTGAGATCTAC -3'
Posted On 2021-03-08