Incidental Mutation 'IGL02886:Fcgr2b'
ID |
363007 |
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 # |
IGL02886
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
170786186-170804116 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 170793297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 244
(V244A)
|
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: V244A
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027966 Gene: ENSMUSG00000026656 AA Change: V244A
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: V244A
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000079882 Gene: ENSMUSG00000026656 AA Change: V244A
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: V244A
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000123774 Gene: ENSMUSG00000026656 AA Change: V244A
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: V244A
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000137669 Gene: ENSMUSG00000026656 AA Change: V244A
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: ENSMUST00000161503
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,921,863 (GRCm39) |
C1140S |
probably damaging |
Het |
Abhd12b |
T |
C |
12: 70,229,740 (GRCm39) |
I238T |
possibly damaging |
Het |
Adgrb3 |
T |
C |
1: 25,543,991 (GRCm39) |
|
probably null |
Het |
Baz2b |
A |
T |
2: 59,788,087 (GRCm39) |
|
probably null |
Het |
Brwd3 |
T |
C |
X: 107,794,454 (GRCm39) |
Y1410C |
probably damaging |
Het |
Casp7 |
T |
A |
19: 56,421,775 (GRCm39) |
I71N |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,804,672 (GRCm39) |
I1828F |
probably damaging |
Het |
Cul2 |
T |
C |
18: 3,426,920 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,986,700 (GRCm39) |
D5409G |
possibly damaging |
Het |
Fam187a |
A |
T |
11: 102,777,380 (GRCm39) |
T395S |
probably benign |
Het |
Fubp1 |
A |
G |
3: 151,926,392 (GRCm39) |
E333G |
possibly damaging |
Het |
Ganab |
G |
T |
19: 8,888,391 (GRCm39) |
|
probably benign |
Het |
Hpdl |
A |
G |
4: 116,677,952 (GRCm39) |
S170P |
probably benign |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Klhl11 |
T |
C |
11: 100,363,047 (GRCm39) |
S170G |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,777,090 (GRCm39) |
|
probably benign |
Het |
Lrrd1 |
T |
C |
5: 3,901,534 (GRCm39) |
V613A |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,276,055 (GRCm39) |
F757L |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,059,169 (GRCm39) |
|
probably benign |
Het |
Myocd |
T |
A |
11: 65,069,569 (GRCm39) |
D837V |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,436,984 (GRCm39) |
Q513R |
possibly damaging |
Het |
Nol4l |
A |
G |
2: 153,371,457 (GRCm39) |
F76L |
probably benign |
Het |
Or10ak7 |
T |
C |
4: 118,792,027 (GRCm39) |
E6G |
probably benign |
Het |
Or2b2b |
T |
A |
13: 21,859,122 (GRCm39) |
|
probably benign |
Het |
Or5b98 |
T |
A |
19: 12,931,882 (GRCm39) |
S310T |
probably benign |
Het |
Pck1 |
G |
A |
2: 172,996,649 (GRCm39) |
E188K |
probably benign |
Het |
Pdcd11 |
T |
C |
19: 47,102,064 (GRCm39) |
V1083A |
possibly damaging |
Het |
Primpol |
G |
A |
8: 47,046,619 (GRCm39) |
Q226* |
probably null |
Het |
Rbm15 |
A |
C |
3: 107,233,611 (GRCm39) |
V959G |
probably benign |
Het |
Rorb |
A |
G |
19: 18,954,943 (GRCm39) |
|
probably null |
Het |
Spata9 |
T |
C |
13: 76,125,853 (GRCm39) |
L112P |
probably damaging |
Het |
Stk24 |
A |
T |
14: 121,529,527 (GRCm39) |
L375Q |
probably null |
Het |
Svip |
A |
G |
7: 51,655,509 (GRCm39) |
S11P |
possibly damaging |
Het |
Taf13 |
T |
C |
3: 108,488,500 (GRCm39) |
|
probably benign |
Het |
Tex30 |
T |
C |
1: 44,127,683 (GRCm39) |
Y7C |
probably damaging |
Het |
Tmem68 |
T |
C |
4: 3,569,361 (GRCm39) |
|
probably benign |
Het |
Tnc |
T |
C |
4: 63,918,344 (GRCm39) |
E1189G |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,365,688 (GRCm38) |
S4P |
possibly damaging |
Het |
Trav3-3 |
C |
A |
14: 53,903,822 (GRCm39) |
L47I |
probably benign |
Het |
Ttn |
G |
A |
2: 76,733,557 (GRCm39) |
|
probably benign |
Het |
Uroc1 |
A |
G |
6: 90,323,811 (GRCm39) |
|
probably benign |
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 |
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 |
|
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 |
2015-12-18 |