Incidental Mutation 'R9434:Fcgr2b'
| ID |
713154 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R9434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
170786186-170804116 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 170793385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 215
(S215T)
|
| 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: S215T
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000027966
Gene: ENSMUSG00000026656
AA Change: S215T
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000079882
Gene: ENSMUSG00000026656
AA Change: S215T
| 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: S215T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123774
Gene: ENSMUSG00000026656
AA Change: S215T
| 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: S215T
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000137669
Gene: ENSMUSG00000026656
AA Change: S215T
| 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: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,284 (GRCm39) |
I251V |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,666,292 (GRCm39) |
|
probably benign |
Het |
| Adipoq |
A |
G |
16: 22,965,697 (GRCm39) |
|
probably benign |
Het |
| Adnp |
C |
T |
2: 168,026,377 (GRCm39) |
R306Q |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,829 (GRCm39) |
N1519K |
|
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,217,092 (GRCm39) |
M15V |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,672,837 (GRCm39) |
D947G |
probably damaging |
Het |
| Crhr2 |
A |
T |
6: 55,069,512 (GRCm39) |
F381I |
probably damaging |
Het |
| Dmxl1 |
G |
T |
18: 50,010,788 (GRCm39) |
A982S |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,899,863 (GRCm39) |
V4375A |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,479,227 (GRCm39) |
E259G |
possibly damaging |
Het |
| Erbb4 |
T |
C |
1: 68,081,773 (GRCm39) |
D1087G |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,816,702 (GRCm39) |
Y4145F |
possibly damaging |
Het |
| Fyb2 |
C |
T |
4: 104,847,534 (GRCm39) |
T518M |
probably damaging |
Het |
| Galk1 |
C |
T |
11: 115,903,494 (GRCm39) |
W4* |
probably null |
Het |
| Gmds |
C |
A |
13: 32,284,369 (GRCm39) |
D248Y |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,853,846 (GRCm39) |
F631I |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,839,226 (GRCm39) |
K55E |
possibly damaging |
Het |
| Il17rb |
T |
C |
14: 29,728,054 (GRCm39) |
E51G |
probably damaging |
Het |
| Ildr1 |
T |
A |
16: 36,529,862 (GRCm39) |
L83Q |
probably damaging |
Het |
| Ints9 |
A |
G |
14: 65,245,506 (GRCm39) |
I255V |
probably benign |
Het |
| Itga9 |
G |
T |
9: 118,636,315 (GRCm39) |
D668Y |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Klhl35 |
A |
G |
7: 99,119,547 (GRCm39) |
Y344C |
probably damaging |
Het |
| Klra4 |
A |
G |
6: 130,040,083 (GRCm39) |
V63A |
possibly damaging |
Het |
| Lgr4 |
A |
G |
2: 109,836,907 (GRCm39) |
T414A |
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,157,314 (GRCm39) |
T184M |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,381,689 (GRCm39) |
D3795G |
possibly damaging |
Het |
| N6amt1 |
T |
A |
16: 87,159,421 (GRCm39) |
L109Q |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,365,755 (GRCm39) |
C215R |
probably benign |
Het |
| Ngef |
G |
A |
1: 87,408,315 (GRCm39) |
S584F |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,801,673 (GRCm39) |
C1174R |
probably damaging |
Het |
| Opa1 |
T |
C |
16: 29,404,874 (GRCm39) |
I24T |
probably benign |
Het |
| Or10v1 |
A |
C |
19: 11,873,393 (GRCm39) |
I3L |
probably benign |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,662 (GRCm39) |
I49F |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,591,254 (GRCm39) |
E19G |
probably benign |
Het |
| Or4a15 |
A |
G |
2: 89,193,692 (GRCm39) |
V27A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,542,512 (GRCm39) |
V1223A |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,933,492 (GRCm39) |
K118R |
unknown |
Het |
| Plcd1 |
A |
T |
9: 118,905,231 (GRCm39) |
M186K |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Sumf1 |
A |
T |
6: 108,130,096 (GRCm39) |
C233S |
possibly damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,902,461 (GRCm39) |
K540R |
probably benign |
Het |
| Tmem150c |
T |
C |
5: 100,240,643 (GRCm39) |
N73S |
probably damaging |
Het |
| Tpra1 |
T |
C |
6: 88,888,774 (GRCm39) |
S319P |
probably benign |
Het |
| Ttk |
C |
A |
9: 83,750,143 (GRCm39) |
Y699* |
probably null |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,790 (GRCm39) |
L143* |
probably null |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,745 (GRCm39) |
V825A |
possibly damaging |
Het |
| Zpld2 |
T |
G |
4: 133,929,553 (GRCm39) |
T251P |
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 |
|
|
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 |
|
|
R9454:Fcgr2b
|
UTSW |
1 |
170,788,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGAGTAACCCCTAGCTAGC -3'
(R):5'- AGGCTTCAGATCCATCCTCC -3'
Sequencing Primer
(F):5'- GTAACCCCTAGCTAGCTGAGAATAAG -3'
(R):5'- GTTACCAGTGTGCCTTCATTAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation