Incidental Mutation 'R8185:Fcgr2b'
| ID |
634801 |
| 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 |
067608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R8185 (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 170794020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 210
(V210A)
|
| 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 damaging
Transcript: ENSMUST00000027966
AA Change: V210A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027966
Gene: ENSMUSG00000026656
AA Change: V210A
| 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 damaging
Transcript: ENSMUST00000081103
AA Change: V210A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079882
Gene: ENSMUSG00000026656
AA Change: V210A
| 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 damaging
Transcript: ENSMUST00000159688
AA Change: V210A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123774
Gene: ENSMUSG00000026656
AA Change: V210A
| 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 damaging
Transcript: ENSMUST00000159969
AA Change: V210A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137669
Gene: ENSMUSG00000026656
AA Change: V210A
| 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: 99.5%
- 20x: 98.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
C |
5: 88,120,011 (GRCm39) |
V256A |
possibly damaging |
Het |
| Ackr3 |
G |
A |
1: 90,141,666 (GRCm39) |
V42M |
probably benign |
Het |
| C9 |
T |
A |
15: 6,520,878 (GRCm39) |
I441N |
probably damaging |
Het |
| Cd44 |
G |
A |
2: 102,654,665 (GRCm39) |
A667V |
possibly damaging |
Het |
| Cdc23 |
T |
C |
18: 34,774,197 (GRCm39) |
N322D |
probably benign |
Het |
| Chrm2 |
A |
G |
6: 36,500,824 (GRCm39) |
N227S |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,487,979 (GRCm39) |
R559Q |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,391,897 (GRCm39) |
N121D |
probably damaging |
Het |
| Cog7 |
A |
G |
7: 121,576,969 (GRCm39) |
L63P |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,854,168 (GRCm39) |
A285V |
probably benign |
Het |
| Cpsf7 |
C |
T |
19: 10,514,224 (GRCm39) |
R343* |
probably null |
Het |
| Cubn |
T |
G |
2: 13,299,129 (GRCm39) |
K3181N |
probably benign |
Het |
| Dsg1a |
C |
T |
18: 20,473,669 (GRCm39) |
T914I |
probably damaging |
Het |
| Ebf3 |
A |
T |
7: 136,827,607 (GRCm39) |
C255S |
possibly damaging |
Het |
| Eif1ad5 |
T |
A |
12: 87,940,433 (GRCm39) |
W46R |
noncoding transcript |
Het |
| Fasn |
A |
T |
11: 120,702,969 (GRCm39) |
I1658N |
probably benign |
Het |
| Flvcr1 |
G |
A |
1: 190,747,681 (GRCm39) |
P305S |
probably damaging |
Het |
| Frem3 |
G |
T |
8: 81,338,933 (GRCm39) |
E409* |
probably null |
Het |
| Gabrr2 |
T |
A |
4: 33,082,330 (GRCm39) |
D213E |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,040 (GRCm39) |
D418E |
possibly damaging |
Het |
| Immt |
C |
T |
6: 71,849,835 (GRCm39) |
Q530* |
probably null |
Het |
| Ints10 |
T |
C |
8: 69,249,370 (GRCm39) |
F67L |
possibly damaging |
Het |
| Kdm4c |
C |
T |
4: 74,291,821 (GRCm39) |
H813Y |
probably benign |
Het |
| Klhl5 |
T |
A |
5: 65,313,471 (GRCm39) |
M395K |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,426,332 (GRCm39) |
I49T |
probably damaging |
Het |
| Lmln |
A |
T |
16: 32,909,690 (GRCm39) |
N357I |
probably damaging |
Het |
| Lpar1 |
A |
T |
4: 58,486,509 (GRCm39) |
M254K |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,894 (GRCm39) |
V554A |
probably damaging |
Het |
| Melk |
G |
A |
4: 44,360,965 (GRCm39) |
V582I |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,573,492 (GRCm39) |
T195A |
unknown |
Het |
| Nedd4l |
T |
C |
18: 65,342,769 (GRCm39) |
F781L |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,971,739 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
G |
A |
9: 48,304,509 (GRCm39) |
D199N |
possibly damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,542 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
| Ovol1 |
T |
C |
19: 5,601,542 (GRCm39) |
D160G |
probably damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,106,863 (GRCm39) |
P453S |
probably benign |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,873 (GRCm39) |
G373S |
probably damaging |
Het |
| Slc7a9 |
T |
C |
7: 35,151,842 (GRCm39) |
S46P |
probably damaging |
Het |
| Sntn |
A |
G |
14: 13,679,014 (GRCm38) |
I63V |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,694,667 (GRCm39) |
V305A |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,398,430 (GRCm39) |
|
probably null |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,163 (GRCm39) |
N118I |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCCTGCAAGTGAGGAAC -3'
(R):5'- AAACCATCACGCTAAGGTGC -3'
Sequencing Primer
(F):5'- AGGAACTCTGGCCCGAG -3'
(R):5'- ATCACGCTAAGGTGCCATAGCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation