Incidental Mutation 'IGL01653:Fcgr3'
ID102876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcgr3
Ensembl Gene ENSMUSG00000059498
Gene NameFc receptor, IgG, low affinity III
SynonymsCD16, FcgammaRIII, Fcg receptor III
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01653
Quality Score
Status
Chromosome1
Chromosomal Location171051174-171064935 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 171059280 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 25 (L25Q)
Ref Sequence ENSEMBL: ENSMUSP00000131836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164044] [ENSMUST00000164179] [ENSMUST00000169017]
Predicted Effect probably damaging
Transcript: ENSMUST00000164044
AA Change: L25Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131938
Gene: ENSMUSG00000059498
AA Change: L25Q

DomainStartEndE-ValueType
low complexity region 18 27 N/A INTRINSIC
IG 47 120 1.2e-1 SMART
IG 128 206 1.24e-8 SMART
transmembrane domain 219 241 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164179
AA Change: L25Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133039
Gene: ENSMUSG00000059498
AA Change: L25Q

DomainStartEndE-ValueType
low complexity region 18 27 N/A INTRINSIC
PDB:3WJL|C 35 74 6e-11 PDB
SCOP:d1f2qa1 39 74 8e-7 SMART
Blast:IG 46 74 4e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168817
Predicted Effect probably damaging
Transcript: ENSMUST00000169017
AA Change: L25Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131836
Gene: ENSMUSG00000059498
AA Change: L25Q

DomainStartEndE-ValueType
low complexity region 18 27 N/A INTRINSIC
IG 46 119 1.2e-1 SMART
IG 127 205 1.24e-8 SMART
transmembrane domain 218 240 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a targeted null mutation lack IgG-mediated mast cell degranulation and have impaired IgG-dependent anaphylaxis and Arthus reactions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,446,974 D119G probably damaging Het
5430403G16Rik A C 5: 109,677,316 Y89* probably null Het
Apol7c A G 15: 77,526,300 C149R probably damaging Het
Arfgef1 G A 1: 10,159,908 R1235* probably null Het
Bpifb4 A G 2: 153,944,783 D285G probably damaging Het
Cep192 T A 18: 67,852,972 H1682Q possibly damaging Het
Cerk G T 15: 86,149,351 Y290* probably null Het
Cyld A T 8: 88,741,370 I544F probably damaging Het
Dcp1a T C 14: 30,505,571 S134P possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ephb4 A G 5: 137,365,741 probably benign Het
Heatr3 A G 8: 88,144,617 I83V probably benign Het
Hormad1 T A 3: 95,578,297 N265K possibly damaging Het
Kpna1 A G 16: 36,020,192 T201A probably benign Het
Krt6b T A 15: 101,679,114 T182S probably damaging Het
Macc1 A G 12: 119,450,353 K755E probably damaging Het
Med12l C T 3: 59,261,893 T1568M probably damaging Het
Muc4 G T 16: 32,761,348 probably null Het
Myt1l T C 12: 29,910,771 S1028P unknown Het
Nhlrc2 C T 19: 56,570,850 R256C probably benign Het
Olfr1230 T A 2: 89,297,127 T48S probably benign Het
Olfr1441 G A 19: 12,422,372 R21H probably benign Het
Pfkfb4 G A 9: 108,999,134 R79H probably damaging Het
Piezo2 T C 18: 63,182,833 probably benign Het
Pramel5 C T 4: 144,273,859 R49H probably benign Het
Ralgapb T A 2: 158,462,159 S613T possibly damaging Het
Ryr1 T C 7: 29,078,597 E2158G probably damaging Het
Scgb2b19 T A 7: 33,279,728 Y43F probably damaging Het
Slc17a6 A G 7: 51,668,022 T468A possibly damaging Het
Slc36a1 A G 11: 55,228,321 D374G possibly damaging Het
Wdtc1 T C 4: 133,295,232 D601G probably damaging Het
Other mutations in Fcgr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1722:Fcgr3 UTSW 1 171054119 missense possibly damaging 0.89
R3734:Fcgr3 UTSW 1 171057874 missense probably benign 0.04
R4207:Fcgr3 UTSW 1 171054075 missense probably benign 0.29
R5885:Fcgr3 UTSW 1 171057711 missense probably damaging 1.00
Posted On2014-01-21