Incidental Mutation 'R0241:Fcer2a'
ID |
66189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcer2a
|
Ensembl Gene |
ENSMUSG00000005540 |
Gene Name |
Fc receptor, IgE, low affinity II, alpha polypeptide |
Synonyms |
Ly-42, FC epsilon RII, Fce2, CD23, low-affinity IgE receptor |
MMRRC Submission |
038479-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0241 (G1)
|
Quality Score |
184 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
3731737-3744175 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 3738796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005678]
[ENSMUST00000207463]
[ENSMUST00000207635]
[ENSMUST00000208145]
[ENSMUST00000208438]
[ENSMUST00000208492]
[ENSMUST00000208603]
|
AlphaFold |
P20693 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005678
|
SMART Domains |
Protein: ENSMUSP00000005678 Gene: ENSMUSG00000005540
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
coiled coil region
|
80 |
150 |
N/A |
INTRINSIC |
CLECT
|
186 |
306 |
2.11e-41 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207327
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207463
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207635
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208145
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208438
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208492
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208603
|
Meta Mutation Damage Score |
0.9488 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 89.8%
- 20x: 65.7%
|
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 B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] PHENOTYPE: Mice homozygous for mutations in this gene are essentially normal although IgE levels or IgE mediated responses may be abnormal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,470,549 (GRCm39) |
M1527K |
possibly damaging |
Het |
Bicra |
A |
T |
7: 15,709,070 (GRCm39) |
M1188K |
probably damaging |
Het |
Brd7 |
G |
A |
8: 89,072,478 (GRCm39) |
R331W |
probably benign |
Het |
Cactin |
A |
G |
10: 81,158,486 (GRCm39) |
T151A |
probably benign |
Het |
Cadps |
G |
A |
14: 12,376,675 (GRCm38) |
T1274M |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,952,667 (GRCm39) |
M175T |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,450,589 (GRCm39) |
D605G |
probably damaging |
Het |
Chst12 |
G |
A |
5: 140,510,054 (GRCm39) |
R227H |
possibly damaging |
Het |
Cobl |
A |
T |
11: 12,204,524 (GRCm39) |
V644E |
probably benign |
Het |
Ddx31 |
A |
G |
2: 28,738,303 (GRCm39) |
T155A |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,521,953 (GRCm39) |
Q4069R |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
Doc2b |
A |
G |
11: 75,663,387 (GRCm39) |
V355A |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,556,340 (GRCm39) |
S578T |
probably benign |
Het |
Fmnl1 |
G |
A |
11: 103,072,996 (GRCm39) |
|
probably null |
Het |
Git2 |
T |
C |
5: 114,871,290 (GRCm39) |
E208G |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,376,232 (GRCm39) |
F136L |
probably benign |
Het |
Hydin |
G |
A |
8: 111,124,655 (GRCm39) |
V555I |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,276,494 (GRCm39) |
L1726S |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,027,114 (GRCm39) |
D615G |
probably damaging |
Het |
Nfasc |
C |
A |
1: 132,564,731 (GRCm39) |
A70S |
probably benign |
Het |
Or4d1 |
T |
A |
11: 87,804,860 (GRCm39) |
N291Y |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,889 (GRCm39) |
M131K |
possibly damaging |
Het |
Or52n4 |
A |
G |
7: 104,294,450 (GRCm39) |
M41T |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,154 (GRCm39) |
K90R |
probably benign |
Het |
Pde7b |
A |
G |
10: 20,311,962 (GRCm39) |
C239R |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,368,027 (GRCm39) |
L2654Q |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,575,110 (GRCm39) |
|
probably null |
Het |
Proz |
T |
A |
8: 13,115,356 (GRCm39) |
M124K |
probably benign |
Het |
Raet1d |
A |
G |
10: 22,247,328 (GRCm39) |
T135A |
probably benign |
Het |
Rapgef1 |
A |
G |
2: 29,592,682 (GRCm39) |
N558S |
possibly damaging |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Simc1 |
G |
T |
13: 54,698,338 (GRCm39) |
L1319F |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,438,429 (GRCm39) |
E1499G |
possibly damaging |
Het |
Tas2r118 |
T |
C |
6: 23,969,338 (GRCm39) |
Y241C |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,430,636 (GRCm39) |
E344G |
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tmbim7 |
A |
T |
5: 3,716,866 (GRCm39) |
Y66F |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,465,853 (GRCm39) |
L548P |
probably damaging |
Het |
Wdr3 |
A |
G |
3: 100,052,973 (GRCm39) |
V593A |
probably damaging |
Het |
Zan |
T |
C |
5: 137,420,084 (GRCm39) |
T2858A |
unknown |
Het |
Zbtb37 |
A |
T |
1: 160,847,939 (GRCm39) |
V356E |
probably benign |
Het |
Zfp36 |
C |
T |
7: 28,077,759 (GRCm39) |
V50I |
probably damaging |
Het |
Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
|
Other mutations in Fcer2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01102:Fcer2a
|
APN |
8 |
3,738,842 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01458:Fcer2a
|
APN |
8 |
3,738,151 (GRCm39) |
missense |
probably benign |
0.45 |
IGL01545:Fcer2a
|
APN |
8 |
3,733,598 (GRCm39) |
nonsense |
probably null |
|
IGL01994:Fcer2a
|
APN |
8 |
3,738,302 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03340:Fcer2a
|
APN |
8 |
3,738,310 (GRCm39) |
missense |
possibly damaging |
0.75 |
anemone
|
UTSW |
8 |
3,738,796 (GRCm39) |
critical splice donor site |
probably null |
|
R0058:Fcer2a
|
UTSW |
8 |
3,738,111 (GRCm39) |
splice site |
probably benign |
|
R0058:Fcer2a
|
UTSW |
8 |
3,738,111 (GRCm39) |
splice site |
probably benign |
|
R0241:Fcer2a
|
UTSW |
8 |
3,738,796 (GRCm39) |
critical splice donor site |
probably null |
|
R0276:Fcer2a
|
UTSW |
8 |
3,739,811 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1530:Fcer2a
|
UTSW |
8 |
3,732,976 (GRCm39) |
missense |
probably damaging |
0.98 |
R2202:Fcer2a
|
UTSW |
8 |
3,738,557 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4133:Fcer2a
|
UTSW |
8 |
3,741,130 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4249:Fcer2a
|
UTSW |
8 |
3,738,831 (GRCm39) |
missense |
probably benign |
0.00 |
R4273:Fcer2a
|
UTSW |
8 |
3,732,848 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4506:Fcer2a
|
UTSW |
8 |
3,738,603 (GRCm39) |
splice site |
probably null |
|
R6796:Fcer2a
|
UTSW |
8 |
3,739,830 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6861:Fcer2a
|
UTSW |
8 |
3,732,910 (GRCm39) |
missense |
probably damaging |
0.98 |
R7421:Fcer2a
|
UTSW |
8 |
3,740,335 (GRCm39) |
missense |
probably benign |
|
R7795:Fcer2a
|
UTSW |
8 |
3,732,910 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
|
Posted On |
2013-08-19 |