Incidental Mutation 'R7434:Or56a4'
ID 576630
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 045511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R7434 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104805949-104806887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104806106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 261 (V261A)
Ref Sequence ENSEMBL: ENSMUSP00000149627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060893] [ENSMUST00000215552] [ENSMUST00000215744] [ENSMUST00000217136]
AlphaFold Q7TRN8
Predicted Effect probably damaging
Transcript: ENSMUST00000060893
AA Change: V261A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: V261A

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 damaging
Transcript: ENSMUST00000215552
AA Change: V261A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000215744
AA Change: V261A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000217136
AA Change: V261A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.2010 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,344,115 (GRCm39) V1731A probably damaging Het
Bcat2 A G 7: 45,225,429 (GRCm39) probably null Het
Bcl6 T G 16: 23,788,798 (GRCm39) E523D possibly damaging Het
Cdcp3 C T 7: 130,881,212 (GRCm39) S1828F unknown Het
Col4a2 T A 8: 11,471,250 (GRCm39) N503K probably damaging Het
Cyb5r1 G A 1: 134,335,576 (GRCm39) C166Y probably benign Het
Cyp2w1 T C 5: 139,342,775 (GRCm39) V490A possibly damaging Het
Erich6b A G 14: 75,901,024 (GRCm39) I113V probably benign Het
Fabp12 C T 3: 10,312,738 (GRCm39) V95I probably benign Het
Gask1b T A 3: 79,848,669 (GRCm39) F472I probably damaging Het
Gpr3 T C 4: 132,938,448 (GRCm39) M75V probably benign Het
Grm5 T G 7: 87,779,682 (GRCm39) S1073A probably benign Het
Hoxc9 A G 15: 102,892,414 (GRCm39) K209R probably damaging Het
Irgm2 T G 11: 58,110,291 (GRCm39) V6G probably benign Het
Jakmip2 A G 18: 43,690,444 (GRCm39) V627A possibly damaging Het
Kansl1l C G 1: 66,801,262 (GRCm39) S568T probably damaging Het
Lims1 A G 10: 58,230,301 (GRCm39) T21A probably benign Het
Lpar2 G T 8: 70,279,165 (GRCm39) A320S probably benign Het
Lpcat4 A G 2: 112,073,400 (GRCm39) N235S probably damaging Het
Ly6g2 T C 15: 75,088,567 (GRCm39) F12L probably benign Het
Meis1 A T 11: 18,835,542 (GRCm39) S359T unknown Het
Mtor C T 4: 148,549,416 (GRCm39) T600I probably benign Het
Ncbp1 T C 4: 46,149,910 (GRCm39) S144P probably damaging Het
Ncor1 T C 11: 62,274,025 (GRCm39) E205G probably damaging Het
Nid1 T C 13: 13,643,049 (GRCm39) I329T probably benign Het
Nos3 T C 5: 24,587,633 (GRCm39) I1031T probably damaging Het
Nyap1 A G 5: 137,734,530 (GRCm39) S168P probably damaging Het
Pam T A 1: 97,903,515 (GRCm39) K73* probably null Het
Pcdhga11 T C 18: 37,891,005 (GRCm39) V671A probably benign Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Ric1 A G 19: 29,552,180 (GRCm39) D317G probably damaging Het
Scn1a T C 2: 66,103,389 (GRCm39) E1957G probably benign Het
Srcap T C 7: 127,159,414 (GRCm39) S3097P unknown Het
Tas2r113 C T 6: 132,870,272 (GRCm39) T100I probably benign Het
Tnni1 A G 1: 135,735,260 (GRCm39) D57G Het
Trim29 G A 9: 43,246,428 (GRCm39) V575I probably damaging Het
Trpv3 G A 11: 73,179,087 (GRCm39) V499M probably damaging Het
Ubr1 C T 2: 120,693,161 (GRCm39) M1748I probably benign Het
Upk1a A T 7: 30,306,617 (GRCm39) M99K probably damaging Het
Usp16 T A 16: 87,276,207 (GRCm39) L515* probably null Het
Vmn1r103 T C 7: 20,244,435 (GRCm39) K9E probably damaging Het
Vwde A G 6: 13,187,639 (GRCm39) V616A probably benign Het
Zfp101 A T 17: 33,600,564 (GRCm39) S397R 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
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
Predicted Primers PCR Primer
(F):5'- GTTCTAAAGGTGCCTGGGTAC -3'
(R):5'- AGGCTCTCCTGTGATGACATTAC -3'

Sequencing Primer
(F):5'- GGTACCTCTTACAACCTCCTCAAC -3'
(R):5'- ATCAACTTGTAGCAGGTTGGACCC -3'
Posted On 2019-10-07