Incidental Mutation 'IGL01653:Fcgr3'
| ID |
102876 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fcgr3
|
| Ensembl Gene |
ENSMUSG00000059498 |
| Gene Name |
Fc receptor, IgG, low affinity III |
| Synonyms |
FcgammaRIII, CD16, Fcg receptor III |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
170878743-170892504 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 170886849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 25
(L25Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164044]
[ENSMUST00000164179]
[ENSMUST00000169017]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164044
AA Change: L25Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131938
Gene: ENSMUSG00000059498
AA Change: L25Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
|
IG
|
47 |
120 |
1.2e-1 |
SMART |
|
IG
|
128 |
206 |
1.24e-8 |
SMART |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164179
AA Change: L25Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133039
Gene: ENSMUSG00000059498
AA Change: L25Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
|
PDB:3WJL|C
|
35 |
74 |
6e-11 |
PDB |
|
SCOP:d1f2qa1
|
39 |
74 |
8e-7 |
SMART |
|
Blast:IG
|
46 |
74 |
4e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168817
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169017
AA Change: L25Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131836
Gene: ENSMUSG00000059498
AA Change: L25Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
|
IG
|
46 |
119 |
1.2e-1 |
SMART |
|
IG
|
127 |
205 |
1.24e-8 |
SMART |
|
transmembrane domain
|
218 |
240 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a targeted null mutation lack IgG-mediated mast cell degranulation and have impaired IgG-dependent anaphylaxis and Arthus reactions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,500 (GRCm39) |
C149R |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,786,703 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
| Cerk |
G |
T |
15: 86,033,552 (GRCm39) |
Y290* |
probably null |
Het |
| Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
| Dcp1a |
T |
C |
14: 30,227,528 (GRCm39) |
S134P |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,871,245 (GRCm39) |
I83V |
probably benign |
Het |
| Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
| Krt6b |
T |
A |
15: 101,587,549 (GRCm39) |
T182S |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
| Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
| Nhlrc2 |
C |
T |
19: 56,559,282 (GRCm39) |
R256C |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
| Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,317,770 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,119,147 (GRCm39) |
D374G |
possibly damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
Het |
|
| Other mutations in Fcgr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4696001:Fcgr3
|
UTSW |
1 |
170,885,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1722:Fcgr3
|
UTSW |
1 |
170,881,688 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3734:Fcgr3
|
UTSW |
1 |
170,885,443 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4207:Fcgr3
|
UTSW |
1 |
170,881,644 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5885:Fcgr3
|
UTSW |
1 |
170,885,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Fcgr3
|
UTSW |
1 |
170,886,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Fcgr3
|
UTSW |
1 |
170,885,442 (GRCm39) |
missense |
probably benign |
|
|
R7514:Fcgr3
|
UTSW |
1 |
170,886,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7692:Fcgr3
|
UTSW |
1 |
170,881,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Fcgr3
|
UTSW |
1 |
170,879,386 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Posted On |
2014-01-21 |
Incidental Mutation