Incidental Mutation 'IGL01067:Fcgr2b'
ID |
50186 |
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)
|
Stock # |
IGL01067
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
170786186-170804116 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 170795622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 102
(N102K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137669
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027966]
[ENSMUST00000081103]
[ENSMUST00000159688]
[ENSMUST00000159969]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027966
AA Change: N102K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027966 Gene: ENSMUSG00000026656 AA Change: N102K
Domain | Start | End | E-Value | Type |
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: N102K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000079882 Gene: ENSMUSG00000026656 AA Change: N102K
Domain | Start | End | E-Value | Type |
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: N102K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000123774 Gene: ENSMUSG00000026656 AA Change: N102K
Domain | Start | End | E-Value | Type |
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: ENSMUST00000159969
AA Change: N102K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000137669 Gene: ENSMUSG00000026656 AA Change: N102K
Domain | Start | End | E-Value | Type |
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: ENSMUST00000161730
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
A330008L17Rik |
T |
C |
8: 100,148,586 (GRCm39) |
|
noncoding transcript |
Het |
Acp4 |
C |
T |
7: 43,902,876 (GRCm39) |
V331I |
probably benign |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Alg6 |
T |
C |
4: 99,629,807 (GRCm39) |
V128A |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,686,026 (GRCm39) |
K280E |
probably damaging |
Het |
Bfar |
T |
C |
16: 13,503,105 (GRCm39) |
C36R |
probably damaging |
Het |
Car14 |
A |
G |
3: 95,806,128 (GRCm39) |
I311T |
probably damaging |
Het |
Cd300c |
T |
C |
11: 114,851,253 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,383,096 (GRCm39) |
E513V |
probably damaging |
Het |
Clip1 |
C |
A |
5: 123,768,867 (GRCm39) |
K612N |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,056,411 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
T |
9: 106,959,572 (GRCm39) |
|
probably null |
Het |
Dph6 |
A |
T |
2: 114,478,290 (GRCm39) |
M17K |
probably damaging |
Het |
Enkur |
T |
C |
2: 21,194,042 (GRCm39) |
Q177R |
probably benign |
Het |
Faap100 |
T |
C |
11: 120,262,958 (GRCm39) |
H800R |
probably damaging |
Het |
Fastkd2 |
T |
G |
1: 63,776,930 (GRCm39) |
|
probably benign |
Het |
Fezf1 |
C |
T |
6: 23,247,842 (GRCm39) |
V78I |
possibly damaging |
Het |
Fmn2 |
A |
T |
1: 174,330,885 (GRCm39) |
D425V |
unknown |
Het |
Fnta |
G |
A |
8: 26,497,229 (GRCm39) |
Q207* |
probably null |
Het |
Fpr3 |
T |
A |
17: 18,190,828 (GRCm39) |
V33D |
probably benign |
Het |
Fshr |
C |
T |
17: 89,292,821 (GRCm39) |
C619Y |
possibly damaging |
Het |
Gbp3 |
T |
C |
3: 142,272,358 (GRCm39) |
|
probably null |
Het |
Gjb2 |
A |
G |
14: 57,337,629 (GRCm39) |
V193A |
possibly damaging |
Het |
Il4ra |
A |
G |
7: 125,174,333 (GRCm39) |
T292A |
probably benign |
Het |
Lama5 |
A |
G |
2: 179,818,336 (GRCm39) |
|
probably benign |
Het |
Marveld3 |
G |
T |
8: 110,688,596 (GRCm39) |
D48E |
possibly damaging |
Het |
Meox1 |
A |
T |
11: 101,784,599 (GRCm39) |
I78N |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,283,354 (GRCm39) |
H444Q |
probably damaging |
Het |
Ndst3 |
T |
C |
3: 123,340,466 (GRCm39) |
Q784R |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,248,714 (GRCm39) |
I107M |
probably benign |
Het |
Or4k44 |
T |
A |
2: 111,368,359 (GRCm39) |
I92F |
probably damaging |
Het |
Pld5 |
A |
T |
1: 176,102,445 (GRCm39) |
|
probably benign |
Het |
Plk1 |
G |
A |
7: 121,768,148 (GRCm39) |
R456H |
probably damaging |
Het |
Polr2a |
T |
A |
11: 69,638,840 (GRCm39) |
I65F |
possibly damaging |
Het |
Ptprd |
T |
A |
4: 75,977,922 (GRCm39) |
I196F |
probably damaging |
Het |
Qsox2 |
T |
C |
2: 26,118,408 (GRCm39) |
N121S |
probably damaging |
Het |
Reln |
A |
G |
5: 22,184,664 (GRCm39) |
L1617S |
probably damaging |
Het |
Rragc |
T |
C |
4: 123,823,761 (GRCm39) |
F345L |
probably benign |
Het |
Sass6 |
A |
T |
3: 116,407,605 (GRCm39) |
E240D |
possibly damaging |
Het |
Shcbp1l |
A |
C |
1: 153,311,770 (GRCm39) |
S308R |
possibly damaging |
Het |
Slc1a5 |
T |
A |
7: 16,520,804 (GRCm39) |
C224* |
probably null |
Het |
Slc27a5 |
T |
C |
7: 12,722,999 (GRCm39) |
E567G |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,088,201 (GRCm39) |
N1417K |
possibly damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,960,791 (GRCm39) |
T214A |
probably damaging |
Het |
Tjp3 |
C |
A |
10: 81,109,699 (GRCm39) |
V835L |
probably benign |
Het |
Trpc4 |
C |
A |
3: 54,129,983 (GRCm39) |
Q250K |
probably benign |
Het |
Ttn |
A |
T |
2: 76,575,506 (GRCm39) |
I25129N |
probably damaging |
Het |
Ube4a |
T |
A |
9: 44,856,163 (GRCm39) |
Y523F |
probably damaging |
Het |
Zfp971 |
G |
A |
2: 177,665,175 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Fcgr2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Fcgr2b
|
APN |
1 |
170,788,799 (GRCm39) |
missense |
possibly damaging |
0.87 |
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 |
2013-06-21 |