Incidental Mutation 'IGL00332:Fcgr2b'
ID7331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcgr2b
Ensembl Gene ENSMUSG00000026656
Gene NameFc receptor, IgG, low affinity IIb
SynonymsFc[g]RII, Ly-m20, F630109E10Rik, CD32, LyM-1, FcgRII, Fcgr2, Fcr-2, Fcgr2a, FcgammaRIIB, Fcr-3, Fc gamma RIIB, Ly-17
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL00332
Quality Score
Status
Chromosome1
Chromosomal Location170958617-170976547 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 170961230 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 273 (N273I)
Ref Sequence ENSEMBL: ENSMUSP00000123774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027966] [ENSMUST00000081103] [ENSMUST00000159688] [ENSMUST00000159969]
Predicted Effect probably benign
Transcript: ENSMUST00000027966
AA Change: N301I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027966
Gene: ENSMUSG00000026656
AA Change: N301I

DomainStartEndE-ValueType
IG 52 125 2.15e-3 SMART
IG 133 211 1.24e-8 SMART
transmembrane domain 224 246 N/A INTRINSIC
low complexity region 277 291 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000081103
AA Change: N254I

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000079882
Gene: ENSMUSG00000026656
AA Change: N254I

DomainStartEndE-ValueType
IG 52 125 2.15e-3 SMART
IG 133 211 1.24e-8 SMART
transmembrane domain 224 246 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000159688
AA Change: N273I

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123774
Gene: ENSMUSG00000026656
AA Change: N273I

DomainStartEndE-ValueType
IG 52 125 2.15e-3 SMART
IG 133 211 1.24e-8 SMART
transmembrane domain 224 246 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159969
AA Change: N301I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137669
Gene: ENSMUSG00000026656
AA Change: N301I

DomainStartEndE-ValueType
IG 52 125 2.15e-3 SMART
IG 133 211 1.24e-8 SMART
transmembrane domain 224 246 N/A INTRINSIC
low complexity region 277 291 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161503
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mutants show increased antibody response, passive cutaneous analphylaxis, autoantibodies and arthritis susceptibility. On C57BL/6, mice die by 9 months with anemia, proteinuria, glomerulonephritis, and inflammatory disease. A strain variant controls expression in germinal center B cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,176,421 Y404H possibly damaging Het
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Aplnr A G 2: 85,137,641 S337G probably benign Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Gzmd A T 14: 56,130,280 C179S probably damaging Het
Hand1 T G 11: 57,831,749 H13P probably damaging Het
Irak3 C T 10: 120,178,067 probably null Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Katna1 T C 10: 7,762,994 probably benign Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1089 T C 2: 86,733,235 I126V possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Reg2 T A 6: 78,406,221 Y50* probably null Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tbx20 A G 9: 24,758,748 V91A probably damaging Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Fcgr2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Fcgr2b APN 1 170968053 missense possibly damaging 0.52
IGL02557:Fcgr2b APN 1 170963322 splice site probably null
IGL02886:Fcgr2b APN 1 170965728 missense possibly damaging 0.53
R0828:Fcgr2b UTSW 1 170961030 missense probably damaging 1.00
R1344:Fcgr2b UTSW 1 170961081 missense probably damaging 1.00
R1418:Fcgr2b UTSW 1 170961081 missense probably damaging 1.00
R3849:Fcgr2b UTSW 1 170968135 missense possibly damaging 0.49
R4163:Fcgr2b UTSW 1 170963447 missense possibly damaging 0.71
R4969:Fcgr2b UTSW 1 170963372 missense probably benign 0.29
R5308:Fcgr2b UTSW 1 170965710 missense probably benign 0.02
R5778:Fcgr2b UTSW 1 170963388 missense probably damaging 0.97
R6974:Fcgr2b UTSW 1 170963408 critical splice donor site probably null
R7201:Fcgr2b UTSW 1 170963397 missense probably benign
R7247:Fcgr2b UTSW 1 170965700 critical splice donor site probably null
R8185:Fcgr2b UTSW 1 170966451 missense probably damaging 1.00
R8258:Fcgr2b UTSW 1 170968133 missense possibly damaging 0.93
R8259:Fcgr2b UTSW 1 170968133 missense possibly damaging 0.93
R8372:Fcgr2b UTSW 1 170965761 missense probably benign 0.03
Posted On2012-04-20