Incidental Mutation 'IGL00332:Fcgr2b'
ID 7331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcgr2b
Ensembl Gene ENSMUSG00000026656
Gene Name Fc receptor, IgG, low affinity IIb
Synonyms Fcr-2, Fcgr2, CD32, Fcr-3, FcgammaRIIB, F630109E10Rik, Fcgr2a, LyM-1, Ly-17, Ly-m20, Fc gamma RIIB, Fc[g]RII, FcgRII
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL00332
Quality Score
Status
Chromosome 1
Chromosomal Location 170786186-170804116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 170788799 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 97,083,737 (GRCm39) Y404H possibly damaging Het
Adgrv1 T A 13: 81,620,996 (GRCm39) probably benign Het
Akap13 A G 7: 75,378,667 (GRCm39) K2107E probably damaging Het
Ankrd42 A G 7: 92,233,662 (GRCm39) probably benign Het
Apba3 C T 10: 81,108,901 (GRCm39) P555S probably damaging Het
Aplnr A G 2: 84,967,985 (GRCm39) S337G probably benign Het
Arhgef40 A G 14: 52,226,417 (GRCm39) N154D probably damaging Het
Asb14 A G 14: 26,633,998 (GRCm39) K401R probably benign Het
Aspn C A 13: 49,719,968 (GRCm39) T328K probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Brca2 T A 5: 150,463,363 (GRCm39) H1042Q probably benign Het
C3 A G 17: 57,533,004 (GRCm39) L167P probably benign Het
Ccdc33 A G 9: 57,977,257 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,063 (GRCm39) M222K possibly damaging Het
Cfap45 C T 1: 172,362,912 (GRCm39) probably benign Het
Chil3 T A 3: 106,056,017 (GRCm39) N352I probably damaging Het
Chn2 G T 6: 54,272,907 (GRCm39) probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cpt1b T C 15: 89,305,066 (GRCm39) E394G probably benign Het
Fpr-rs7 G A 17: 20,333,480 (GRCm39) Q337* probably null Het
Fras1 T A 5: 96,887,217 (GRCm39) N2666K possibly damaging Het
Gfra3 C T 18: 34,824,601 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr75 C T 11: 30,841,590 (GRCm39) T165I probably damaging Het
Gzmd A T 14: 56,367,737 (GRCm39) C179S probably damaging Het
Hand1 T G 11: 57,722,575 (GRCm39) H13P probably damaging Het
Irak3 C T 10: 120,013,972 (GRCm39) probably null Het
Isl2 T A 9: 55,452,253 (GRCm39) L275Q possibly damaging Het
Itgb2 T C 10: 77,393,240 (GRCm39) V367A probably damaging Het
Katna1 T C 10: 7,638,758 (GRCm39) probably benign Het
Myh6 A G 14: 55,184,450 (GRCm39) M1627T probably benign Het
Naprt A G 15: 75,765,164 (GRCm39) Y187H probably damaging Het
Nedd4 T A 9: 72,642,371 (GRCm39) V550E probably damaging Het
Nt5c2 A G 19: 46,884,954 (GRCm39) V252A possibly damaging Het
Or8k39 T C 2: 86,563,579 (GRCm39) I126V possibly damaging Het
Or9i16 C T 19: 13,864,945 (GRCm39) V210I probably benign Het
P2ry2 A G 7: 100,647,393 (GRCm39) V304A probably damaging Het
Pde4dip T C 3: 97,674,593 (GRCm39) N108D probably benign Het
Pdgfrl A G 8: 41,438,660 (GRCm39) T199A probably damaging Het
Plaa A G 4: 94,470,844 (GRCm39) Y431H probably benign Het
Pls1 A T 9: 95,664,472 (GRCm39) I177N possibly damaging Het
Plxna2 T C 1: 194,472,138 (GRCm39) F1035L probably damaging Het
Ppp6r3 A T 19: 3,564,729 (GRCm39) probably null Het
Prpf4b T C 13: 35,067,890 (GRCm39) S240P probably benign Het
Reg2 T A 6: 78,383,204 (GRCm39) Y50* probably null Het
Rev3l C T 10: 39,682,965 (GRCm39) T361I probably benign Het
Rps4l A G 6: 148,256,383 (GRCm39) probably benign Het
Scn11a A T 9: 119,598,982 (GRCm39) F1183I probably damaging Het
Sh2b2 T C 5: 136,253,273 (GRCm39) E327G probably damaging Het
Shank2 A G 7: 143,965,584 (GRCm39) K1057R probably damaging Het
Sim2 T A 16: 93,915,803 (GRCm39) Y255* probably null Het
Snx9 A G 17: 5,949,636 (GRCm39) N112S probably benign Het
Sphkap T A 1: 83,258,237 (GRCm39) I169F probably damaging Het
Spink5 A G 18: 44,100,111 (GRCm39) T43A probably benign Het
Stac2 C T 11: 97,932,005 (GRCm39) S265N probably benign Het
Tbx20 A G 9: 24,670,044 (GRCm39) V91A probably damaging Het
Tgfbr2 C T 9: 115,939,257 (GRCm39) R190H probably damaging Het
Ubr2 A G 17: 47,301,916 (GRCm39) probably null Het
Wdfy3 C T 5: 102,063,204 (GRCm39) probably null Het
Wdr82 T C 9: 106,061,449 (GRCm39) V166A probably benign Het
Zfhx4 C T 3: 5,307,401 (GRCm39) A209V probably damaging Het
Zfp518b T A 5: 38,831,109 (GRCm39) T299S possibly damaging Het
Other mutations in Fcgr2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Fcgr2b APN 1 170,795,622 (GRCm39) missense possibly damaging 0.52
IGL02557:Fcgr2b APN 1 170,790,891 (GRCm39) splice site probably null
IGL02886:Fcgr2b APN 1 170,793,297 (GRCm39) missense possibly damaging 0.53
R0828:Fcgr2b UTSW 1 170,788,599 (GRCm39) missense probably damaging 1.00
R1344:Fcgr2b UTSW 1 170,788,650 (GRCm39) missense probably damaging 1.00
R1418:Fcgr2b UTSW 1 170,788,650 (GRCm39) missense probably damaging 1.00
R3849:Fcgr2b UTSW 1 170,795,704 (GRCm39) missense possibly damaging 0.49
R4163:Fcgr2b UTSW 1 170,791,016 (GRCm39) missense possibly damaging 0.71
R4969:Fcgr2b UTSW 1 170,790,941 (GRCm39) missense probably benign 0.29
R5308:Fcgr2b UTSW 1 170,793,279 (GRCm39) missense probably benign 0.02
R5778:Fcgr2b UTSW 1 170,790,957 (GRCm39) missense probably damaging 0.97
R6974:Fcgr2b UTSW 1 170,790,977 (GRCm39) critical splice donor site probably null
R7201:Fcgr2b UTSW 1 170,790,966 (GRCm39) missense probably benign
R7247:Fcgr2b UTSW 1 170,793,269 (GRCm39) critical splice donor site probably null
R8185:Fcgr2b UTSW 1 170,794,020 (GRCm39) missense probably damaging 1.00
R8258:Fcgr2b UTSW 1 170,795,702 (GRCm39) missense possibly damaging 0.93
R8259:Fcgr2b UTSW 1 170,795,702 (GRCm39) missense possibly damaging 0.93
R8372:Fcgr2b UTSW 1 170,793,330 (GRCm39) missense probably benign 0.03
R9240:Fcgr2b UTSW 1 170,797,042 (GRCm39) critical splice donor site probably null
R9434:Fcgr2b UTSW 1 170,793,385 (GRCm39) missense probably benign 0.08
R9454:Fcgr2b UTSW 1 170,788,657 (GRCm39) missense probably damaging 0.99
Posted On 2012-04-20