Incidental Mutation 'IGL01545:Fcer2a'
ID |
90306 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01545
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
3731737-3744175 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 3733598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 198
(R198*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005678]
[ENSMUST00000044857]
[ENSMUST00000207463]
[ENSMUST00000207635]
[ENSMUST00000207787]
[ENSMUST00000208145]
[ENSMUST00000208438]
[ENSMUST00000208492]
[ENSMUST00000208603]
|
AlphaFold |
P20693 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005678
AA Change: R220*
|
SMART Domains |
Protein: ENSMUSP00000005678 Gene: ENSMUSG00000005540 AA Change: R220*
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 |
probably benign
Transcript: ENSMUST00000044857
|
SMART Domains |
Protein: ENSMUSP00000036541 Gene: ENSMUSG00000040236
Domain | Start | End | E-Value | Type |
Pfam:TRAPP
|
28 |
177 |
3.2e-39 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207463
AA Change: R180*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207635
AA Change: R193*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207787
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208145
AA Change: R219*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208438
AA Change: R198*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208492
AA Change: R219*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208603
AA Change: R198*
|
Coding Region Coverage |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
G |
A |
11: 30,376,228 (GRCm39) |
S213L |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,614,303 (GRCm39) |
I4030T |
possibly damaging |
Het |
Ap4b1 |
G |
A |
3: 103,720,143 (GRCm39) |
R55H |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Atp6v1h |
T |
A |
1: 5,159,282 (GRCm39) |
M55K |
probably benign |
Het |
B3galt4 |
A |
C |
17: 34,170,187 (GRCm39) |
V17G |
probably benign |
Het |
Cd79a |
A |
T |
7: 24,600,691 (GRCm39) |
M172L |
probably benign |
Het |
Cry1 |
A |
T |
10: 85,020,226 (GRCm39) |
L37H |
possibly damaging |
Het |
D5Ertd615e |
A |
T |
5: 45,326,755 (GRCm39) |
|
noncoding transcript |
Het |
Dnah17 |
A |
T |
11: 118,010,394 (GRCm39) |
L308Q |
probably damaging |
Het |
Dnah7a |
C |
T |
1: 53,557,941 (GRCm39) |
A2158T |
probably benign |
Het |
Dusp2 |
A |
G |
2: 127,179,695 (GRCm39) |
T313A |
probably benign |
Het |
Fam110c |
T |
C |
12: 31,124,982 (GRCm39) |
S315P |
probably damaging |
Het |
Fryl |
G |
A |
5: 73,211,940 (GRCm39) |
T2359M |
probably damaging |
Het |
Gm14221 |
G |
A |
2: 160,410,303 (GRCm39) |
|
noncoding transcript |
Het |
Gpc6 |
T |
G |
14: 118,202,242 (GRCm39) |
L484R |
probably damaging |
Het |
Igdcc3 |
G |
A |
9: 65,087,355 (GRCm39) |
V298M |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,046,080 (GRCm39) |
|
probably benign |
Het |
Iqca1 |
T |
A |
1: 89,973,364 (GRCm39) |
M803L |
probably benign |
Het |
Itga4 |
T |
C |
2: 79,146,314 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
G |
7: 125,352,143 (GRCm39) |
|
probably null |
Het |
Kidins220 |
T |
C |
12: 25,090,459 (GRCm39) |
F1141S |
possibly damaging |
Het |
Kif7 |
A |
G |
7: 79,352,026 (GRCm39) |
I912T |
probably damaging |
Het |
Klhl38 |
G |
A |
15: 58,185,854 (GRCm39) |
R292W |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,053,389 (GRCm39) |
|
probably benign |
Het |
Mbd4 |
A |
T |
6: 115,827,758 (GRCm39) |
D39E |
probably damaging |
Het |
Mrm2 |
A |
G |
5: 140,317,010 (GRCm39) |
V8A |
probably benign |
Het |
Myod1 |
A |
T |
7: 46,026,539 (GRCm39) |
E148V |
probably damaging |
Het |
Or5d47 |
A |
C |
2: 87,804,895 (GRCm39) |
I38S |
probably benign |
Het |
Pdcd10 |
A |
T |
3: 75,448,475 (GRCm39) |
F30I |
possibly damaging |
Het |
Ptcd1 |
T |
A |
5: 145,096,346 (GRCm39) |
H249L |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,865,561 (GRCm39) |
D451E |
probably benign |
Het |
Rab44 |
C |
A |
17: 29,366,351 (GRCm39) |
S680R |
unknown |
Het |
Rad21l |
A |
T |
2: 151,497,084 (GRCm39) |
D340E |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,314,703 (GRCm39) |
F1808L |
possibly damaging |
Het |
Rnf122 |
T |
C |
8: 31,618,630 (GRCm39) |
V126A |
probably damaging |
Het |
Slc25a47 |
G |
T |
12: 108,820,142 (GRCm39) |
V49L |
probably benign |
Het |
Slc36a2 |
T |
C |
11: 55,075,633 (GRCm39) |
|
probably null |
Het |
Sorl1 |
G |
A |
9: 41,955,252 (GRCm39) |
R668W |
probably damaging |
Het |
Tbx19 |
T |
A |
1: 164,966,725 (GRCm39) |
N383I |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,510 (GRCm39) |
H1676R |
probably benign |
Het |
Tgm5 |
G |
T |
2: 120,883,289 (GRCm39) |
R351S |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,071,842 (GRCm39) |
S34G |
probably benign |
Het |
Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,170,140 (GRCm39) |
|
probably benign |
Het |
Wfdc11 |
A |
G |
2: 164,507,365 (GRCm39) |
|
probably null |
Het |
Xrn2 |
T |
A |
2: 146,880,099 (GRCm39) |
I474K |
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,797,063 (GRCm39) |
K383R |
probably 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 |
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 |
|
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 |
2013-12-03 |