Incidental Mutation 'IGL02625:Or4a47'
ID 301054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4a47
Ensembl Gene ENSMUSG00000075073
Gene Name olfactory receptor family 4 subfamily A member 47
Synonyms MOR231-1, Olfr1256, GA_x6K02T2Q125-51276848-51275928
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02625
Quality Score
Status
Chromosome 2
Chromosomal Location 89665367-89666287 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89665740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 183 (L183P)
Ref Sequence ENSEMBL: ENSMUSP00000149123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099763] [ENSMUST00000111520] [ENSMUST00000213833] [ENSMUST00000215613]
AlphaFold Q8VGP1
Predicted Effect probably damaging
Transcript: ENSMUST00000099763
AA Change: L183P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097351
Gene: ENSMUSG00000075073
AA Change: L183P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 5.3e-28 PFAM
Pfam:7tm_4 137 278 7.1e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111520
AA Change: L183P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107145
Gene: ENSMUSG00000075073
AA Change: L183P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 1.3e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213833
AA Change: L183P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215613
AA Change: L183P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,634,584 (GRCm39) C109S probably damaging Het
Arhgdia C A 11: 120,471,039 (GRCm39) E53D probably benign Het
Ccr4 A C 9: 114,321,401 (GRCm39) C221W probably damaging Het
Ces2a G A 8: 105,466,910 (GRCm39) probably null Het
Chpf2 G T 5: 24,796,709 (GRCm39) E552* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dock2 A G 11: 34,451,168 (GRCm39) probably null Het
Esr1 A T 10: 4,951,346 (GRCm39) T575S probably benign Het
Fancc A G 13: 63,545,965 (GRCm39) C93R probably damaging Het
Foxj3 A T 4: 119,482,114 (GRCm39) R523W unknown Het
Fryl C T 5: 73,227,220 (GRCm39) probably benign Het
Fsip2 A C 2: 82,779,836 (GRCm39) H194P probably benign Het
Gaa G A 11: 119,165,559 (GRCm39) V350I probably damaging Het
Gpn3 T A 5: 122,519,257 (GRCm39) I152N probably damaging Het
H2-M10.3 T A 17: 36,678,417 (GRCm39) H136L probably benign Het
H4c16 C T 6: 136,781,335 (GRCm39) probably benign Het
Hspg2 A G 4: 137,239,953 (GRCm39) D507G probably damaging Het
Jcad A G 18: 4,674,422 (GRCm39) E728G probably benign Het
Kat14 G A 2: 144,244,365 (GRCm39) R406H possibly damaging Het
Kcnma1 G T 14: 23,413,900 (GRCm39) D863E probably damaging Het
Lrp1 A G 10: 127,410,355 (GRCm39) Y1464H probably damaging Het
Map4 T C 9: 109,893,485 (GRCm39) S584P probably damaging Het
Nlrp4f G A 13: 65,347,085 (GRCm39) L58F probably damaging Het
Nlrp6 A G 7: 140,503,413 (GRCm39) I506M probably benign Het
Nudt17 G A 3: 96,613,780 (GRCm39) R266W probably damaging Het
Or4a69 A G 2: 89,313,018 (GRCm39) S154P probably damaging Het
Or52h9 A G 7: 104,202,780 (GRCm39) Y218C probably damaging Het
Plcb4 A G 2: 135,803,714 (GRCm39) E529G probably benign Het
Prss32 A T 17: 24,075,210 (GRCm39) I187F possibly damaging Het
Prss55 A T 14: 64,316,818 (GRCm39) I108K probably damaging Het
Rcl1 A G 19: 29,095,741 (GRCm39) M109V probably benign Het
Rho A T 6: 115,912,158 (GRCm39) M207L possibly damaging Het
Slc12a1 A G 2: 125,012,611 (GRCm39) D291G probably damaging Het
Slco2b1 A C 7: 99,309,330 (GRCm39) probably null Het
Stx11 T A 10: 12,817,661 (GRCm39) D21V possibly damaging Het
Svep1 T A 4: 58,115,807 (GRCm39) Y962F possibly damaging Het
Tbx5 G T 5: 119,974,972 (GRCm39) probably benign Het
Tcf12 C A 9: 71,830,039 (GRCm39) G141W probably damaging Het
Tmtc2 A G 10: 105,206,407 (GRCm39) M296T probably damaging Het
Trim13 T A 14: 61,842,999 (GRCm39) S339T probably benign Het
Ugt1a7c A G 1: 88,023,239 (GRCm39) K133E possibly damaging Het
Usp40 A G 1: 87,877,739 (GRCm39) V1050A probably benign Het
Vmn2r86 T G 10: 130,288,781 (GRCm39) N240T probably damaging Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr6 T C 9: 108,452,704 (GRCm39) Y393C probably damaging Het
Zfp619 A T 7: 39,183,609 (GRCm39) probably benign Het
Other mutations in Or4a47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Or4a47 APN 2 89,665,802 (GRCm39) nonsense probably null
IGL01082:Or4a47 APN 2 89,674,407 (GRCm39) unclassified probably benign
IGL01613:Or4a47 APN 2 89,666,152 (GRCm39) missense probably damaging 0.98
IGL01969:Or4a47 APN 2 89,666,064 (GRCm39) missense probably benign 0.01
R0843:Or4a47 UTSW 2 89,665,960 (GRCm39) missense probably benign 0.01
R1270:Or4a47 UTSW 2 89,665,666 (GRCm39) missense possibly damaging 0.90
R1521:Or4a47 UTSW 2 89,665,516 (GRCm39) nonsense probably null
R2219:Or4a47 UTSW 2 89,665,769 (GRCm39) missense probably damaging 1.00
R2881:Or4a47 UTSW 2 89,675,328 (GRCm39) splice site probably null
R3121:Or4a47 UTSW 2 89,665,858 (GRCm39) missense probably benign
R3609:Or4a47 UTSW 2 89,665,420 (GRCm39) missense probably damaging 0.99
R4984:Or4a47 UTSW 2 89,666,157 (GRCm39) missense probably damaging 1.00
R5153:Or4a47 UTSW 2 89,665,578 (GRCm39) missense possibly damaging 0.77
R5640:Or4a47 UTSW 2 89,666,282 (GRCm39) missense probably benign 0.08
R7198:Or4a47 UTSW 2 89,666,076 (GRCm39) missense probably damaging 1.00
R7862:Or4a47 UTSW 2 89,665,468 (GRCm39) missense probably benign 0.16
R8100:Or4a47 UTSW 2 89,666,029 (GRCm39) nonsense probably null
R8487:Or4a47 UTSW 2 89,665,609 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16