Incidental Mutation 'R0058:Fcer2a'
| ID |
16976 |
| 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 |
038352-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0058 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3731737-3744175 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 3738111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005678]
[ENSMUST00000207463]
[ENSMUST00000207635]
[ENSMUST00000208145]
[ENSMUST00000208438]
[ENSMUST00000208492]
[ENSMUST00000208603]
|
| AlphaFold |
P20693 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000207463
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208145
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208438
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208492
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208603
|
| Coding Region Coverage |
- 1x: 87.4%
- 3x: 82.9%
- 10x: 66.9%
- 20x: 41.4%
|
| Validation Efficiency |
85% (62/73) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,330,791 (GRCm39) |
V6088A |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,580,691 (GRCm39) |
|
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,361,141 (GRCm39) |
Y84N |
probably damaging |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Avpr1b |
A |
G |
1: 131,527,524 (GRCm39) |
T16A |
probably benign |
Het |
| Cables1 |
A |
G |
18: 12,056,470 (GRCm39) |
E316G |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,761,629 (GRCm39) |
I427L |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,097,415 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,113,121 (GRCm39) |
E1512G |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,490 (GRCm39) |
V1171M |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,018,485 (GRCm39) |
F1230Y |
probably benign |
Het |
| Dst |
T |
C |
1: 34,045,305 (GRCm39) |
S13P |
possibly damaging |
Het |
| Dym |
G |
A |
18: 75,176,243 (GRCm39) |
E15K |
possibly damaging |
Het |
| Faf1 |
A |
G |
4: 109,593,821 (GRCm39) |
Q133R |
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,713,893 (GRCm39) |
S204R |
probably benign |
Het |
| Ghitm |
A |
G |
14: 36,853,549 (GRCm39) |
L97P |
probably damaging |
Het |
| Gins4 |
A |
G |
8: 23,719,526 (GRCm39) |
|
probably benign |
Het |
| Gm10573 |
G |
A |
4: 121,754,005 (GRCm39) |
|
|
Het |
| Golga3 |
T |
A |
5: 110,350,643 (GRCm39) |
F766Y |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
| Helz |
A |
T |
11: 107,563,384 (GRCm39) |
|
probably benign |
Het |
| Igll1 |
A |
T |
16: 16,681,740 (GRCm39) |
V5E |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,699,225 (GRCm39) |
|
probably null |
Het |
| Limk1 |
A |
T |
5: 134,688,725 (GRCm39) |
W507R |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mtif3 |
C |
A |
5: 146,893,731 (GRCm39) |
V159F |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,523,537 (GRCm39) |
D887V |
probably damaging |
Het |
| Pkd1 |
G |
C |
17: 24,783,677 (GRCm39) |
A162P |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,628 (GRCm39) |
D309G |
possibly damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,307 (GRCm39) |
V401A |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,526,453 (GRCm39) |
V253I |
unknown |
Het |
| Ranbp2 |
T |
A |
10: 58,316,353 (GRCm39) |
S2358T |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,423,494 (GRCm39) |
V2183E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,432,953 (GRCm39) |
S232C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,904,012 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,574,909 (GRCm39) |
I531T |
probably benign |
Het |
| Slc36a1 |
C |
T |
11: 55,112,820 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,883,708 (GRCm39) |
|
probably null |
Het |
| Tex15 |
C |
T |
8: 34,071,530 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
T |
G |
9: 106,102,164 (GRCm39) |
L485R |
possibly damaging |
Het |
| Tmem207 |
A |
G |
16: 26,343,579 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
T |
C |
8: 43,638,306 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,705,465 (GRCm39) |
F288L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,784,869 (GRCm39) |
S559R |
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 |
|
|
R0241:Fcer2a
|
UTSW |
8 |
3,738,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation