Incidental Mutation 'R8372:Fcgr2b'
| ID |
646481 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
067875-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R8372 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
170786186-170804116 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 170793330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 233
(V233A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027966
(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: V233A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000027966
Gene: ENSMUSG00000026656
AA Change: V233A
| 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 |
probably benign
Transcript: ENSMUST00000081103
AA Change: V233A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000079882
Gene: ENSMUSG00000026656
AA Change: V233A
| 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 |
probably benign
Transcript: ENSMUST00000159688
AA Change: V233A
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123774
Gene: ENSMUSG00000026656
AA Change: V233A
| 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 |
probably benign
Transcript: ENSMUST00000159969
AA Change: V233A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000137669
Gene: ENSMUSG00000026656
AA Change: V233A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 |
|---|
| 4930562C15Rik |
A |
G |
16: 4,682,152 (GRCm39) |
D155G |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,616,114 (GRCm39) |
|
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,925,185 (GRCm39) |
S833P |
unknown |
Het |
| B4galnt2 |
T |
C |
11: 95,760,106 (GRCm39) |
E307G |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,418,528 (GRCm39) |
M826V |
probably benign |
Het |
| C2cd3 |
C |
T |
7: 100,104,487 (GRCm39) |
Q2167* |
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,547,585 (GRCm39) |
E1289G |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,385,203 (GRCm39) |
V1893A |
probably benign |
Het |
| Clec4g |
T |
C |
8: 3,757,990 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,794,479 (GRCm39) |
E738G |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,481,335 (GRCm39) |
|
probably benign |
Het |
| Dab2 |
A |
C |
15: 6,446,406 (GRCm39) |
S8R |
possibly damaging |
Het |
| Dclk3 |
A |
G |
9: 111,314,081 (GRCm39) |
D719G |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,111,514 (GRCm39) |
V2540A |
possibly damaging |
Het |
| Elavl1 |
T |
C |
8: 4,339,664 (GRCm39) |
N306S |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,301,552 (GRCm39) |
S452P |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,850 (GRCm39) |
F80L |
probably benign |
Het |
| Ighv13-2 |
A |
T |
12: 114,321,681 (GRCm39) |
C19* |
probably null |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,596 (GRCm39) |
L215P |
probably damaging |
Het |
| Krtap20-1 |
G |
C |
16: 88,812,385 (GRCm39) |
G57R |
unknown |
Het |
| Or9k2b |
A |
G |
10: 130,016,656 (GRCm39) |
F31S |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 116,991,786 (GRCm39) |
Q872H |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,042,696 (GRCm39) |
S1531P |
probably damaging |
Het |
| Psg16 |
A |
G |
7: 16,829,240 (GRCm39) |
T275A |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,762 (GRCm39) |
M19V |
|
Het |
| Rbm42 |
A |
G |
7: 30,340,631 (GRCm39) |
S447P |
unknown |
Het |
| Rsf1 |
T |
C |
7: 97,311,624 (GRCm39) |
S785P |
|
Het |
| Scnn1a |
A |
G |
6: 125,320,681 (GRCm39) |
N578S |
probably damaging |
Het |
| Slc39a7 |
T |
C |
17: 34,249,639 (GRCm39) |
N169D |
probably damaging |
Het |
| Spp1 |
A |
G |
5: 104,588,122 (GRCm39) |
T175A |
probably benign |
Het |
| Tigd5 |
A |
G |
15: 75,782,337 (GRCm39) |
H233R |
probably benign |
Het |
| Tmprss3 |
C |
T |
17: 31,403,671 (GRCm39) |
V377I |
probably benign |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,657 (GRCm39) |
I130F |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,835,341 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,906,166 (GRCm39) |
T1186A |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,953,506 (GRCm39) |
Y172H |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTAGCATAGGTCATGGCAC -3'
(R):5'- AGGTCTCAGGGAAATGTACTACAC -3'
Sequencing Primer
(F):5'- GGCACATCATCAGGTTTGTTCAAGTC -3'
(R):5'- TGTACTACACCTATGAGTGACCAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation