Incidental Mutation 'IGL01615:Or56a4'
ID 92373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or56a4
Ensembl Gene ENSMUSG00000047225
Gene Name olfactory receptor family 56 subfamily A member 4
Synonyms GA_x6K02T2PBJ9-7786441-7785503, Olfr684, MOR40-8P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL01615
Quality Score
Status
Chromosome 7
Chromosomal Location 104805949-104806887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104806667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 74 (V74A)
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: V74A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: V74A

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: V74A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000215744
AA Change: V74A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000217136
AA Change: V74A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,171,692 (GRCm39) T906A probably damaging Het
Akap13 A G 7: 75,347,141 (GRCm39) S1731G probably damaging Het
Apbb2 A G 5: 66,465,044 (GRCm39) V650A probably benign Het
Appl1 A G 14: 26,681,427 (GRCm39) probably benign Het
Avpr1b T G 1: 131,527,885 (GRCm39) V136G probably damaging Het
C6 T C 15: 4,811,378 (GRCm39) F409L probably benign Het
Ccdc121rt3 A G 5: 112,503,696 (GRCm39) S3P possibly damaging Het
Cdk20 A G 13: 64,584,124 (GRCm39) probably benign Het
Cenpf T C 1: 189,385,381 (GRCm39) K2300E possibly damaging Het
Cfap57 C T 4: 118,457,993 (GRCm39) R399Q probably damaging Het
Cimap3 G T 3: 105,904,523 (GRCm39) probably null Het
Cnnm1 A T 19: 43,460,375 (GRCm39) S706C probably benign Het
Cr1l T C 1: 194,812,189 (GRCm39) I45V possibly damaging Het
D130043K22Rik A T 13: 25,083,779 (GRCm39) R1081S probably damaging Het
Ddx60 A T 8: 62,416,774 (GRCm39) H573L probably null Het
Eif5b T C 1: 38,084,787 (GRCm39) L878S probably damaging Het
Ets1 T C 9: 32,644,235 (GRCm39) probably benign Het
Evi5 A G 5: 107,912,573 (GRCm39) L696P probably damaging Het
Fbh1 C A 2: 11,762,334 (GRCm39) E12* probably null Het
Gabpb1 C A 2: 126,495,520 (GRCm39) M77I possibly damaging Het
Glul T A 1: 153,782,222 (GRCm39) N152K probably benign Het
Gm45234 T C 6: 124,723,394 (GRCm39) Y613C probably damaging Het
Gm5611 A G 9: 16,941,647 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,808,953 (GRCm39) I225K probably damaging Het
Herc4 T C 10: 63,126,461 (GRCm39) probably benign Het
Iqsec3 C T 6: 121,387,580 (GRCm39) V720M probably damaging Het
Itgam A T 7: 127,715,939 (GRCm39) H1104L possibly damaging Het
Itgb3 T A 11: 104,534,791 (GRCm39) D549E probably damaging Het
Kctd7 A T 5: 130,176,976 (GRCm39) M76L probably damaging Het
Kdm3b T G 18: 34,962,284 (GRCm39) N1523K probably damaging Het
Map3k12 T A 15: 102,412,186 (GRCm39) E318D probably damaging Het
Mc1r T C 8: 124,134,789 (GRCm39) Y181H probably damaging Het
Mex3c G A 18: 73,706,703 (GRCm39) A197T unknown Het
Mvk A G 5: 114,584,353 (GRCm39) D71G probably benign Het
Ndufb3 T A 1: 58,634,912 (GRCm39) L88* probably null Het
Or5p55 A G 7: 107,567,144 (GRCm39) D180G probably damaging Het
Pramel17 T A 4: 101,694,201 (GRCm39) R227S possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Slc5a3 C T 16: 91,876,000 (GRCm39) Q686* probably null Het
Vmn2r75 T C 7: 85,797,681 (GRCm39) I711V probably benign Het
Vps13c T A 9: 67,863,063 (GRCm39) H3026Q probably benign Het
Zfp354c A G 11: 50,708,732 (GRCm39) S22P possibly damaging Het
Other mutations in Or56a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-09