Incidental Mutation 'IGL01458:Fcer2a'
ID |
84873 |
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 # |
IGL01458
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
3731737-3744175 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3738151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 137
(R137S)
|
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 benign
Transcript: ENSMUST00000005678
AA Change: R138S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000005678 Gene: ENSMUSG00000005540 AA Change: R138S
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
AA Change: R98S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207635
AA Change: R111S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208145
AA Change: R137S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208438
AA Change: R116S
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208492
AA Change: R137S
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208603
AA Change: R116S
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433N12Rik |
A |
T |
9: 3,134,008 (GRCm39) |
|
noncoding transcript |
Het |
Akap12 |
A |
G |
10: 4,304,060 (GRCm39) |
E290G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 52,933,601 (GRCm39) |
C364* |
probably null |
Het |
Akr1c18 |
A |
T |
13: 4,187,143 (GRCm39) |
Y198N |
probably damaging |
Het |
Aurka |
T |
C |
2: 172,210,899 (GRCm39) |
|
probably benign |
Het |
Bloc1s6 |
T |
A |
2: 122,586,135 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Csn2 |
T |
C |
5: 87,843,879 (GRCm39) |
|
probably benign |
Het |
Dsc1 |
T |
C |
18: 20,232,195 (GRCm39) |
E271G |
probably damaging |
Het |
Eif1ad4 |
A |
T |
12: 87,862,158 (GRCm39) |
K7* |
probably null |
Het |
Evi5 |
G |
A |
5: 107,963,513 (GRCm39) |
A354V |
probably damaging |
Het |
Fto |
A |
G |
8: 92,168,344 (GRCm39) |
T266A |
probably benign |
Het |
Fzd4 |
G |
A |
7: 89,053,943 (GRCm39) |
V17I |
unknown |
Het |
Gadd45b |
T |
C |
10: 80,767,075 (GRCm39) |
L105P |
probably damaging |
Het |
Galntl6 |
T |
C |
8: 58,880,743 (GRCm39) |
S137G |
probably damaging |
Het |
Gpr135 |
T |
C |
12: 72,116,442 (GRCm39) |
M442V |
probably benign |
Het |
Kcnq1 |
T |
A |
7: 142,748,015 (GRCm39) |
Y330* |
probably null |
Het |
Kdm5b |
A |
G |
1: 134,549,724 (GRCm39) |
R1106G |
possibly damaging |
Het |
Lrrc8e |
C |
T |
8: 4,286,141 (GRCm39) |
R789W |
probably damaging |
Het |
Myo16 |
T |
C |
8: 10,485,853 (GRCm39) |
L644P |
probably damaging |
Het |
Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
Or10ag56 |
C |
T |
2: 87,139,826 (GRCm39) |
T251I |
probably damaging |
Het |
Or1e29 |
A |
T |
11: 73,667,532 (GRCm39) |
I207N |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,882,307 (GRCm39) |
N70D |
probably benign |
Het |
Panx3 |
A |
T |
9: 37,572,443 (GRCm39) |
M369K |
probably damaging |
Het |
Plet1 |
A |
G |
9: 50,406,017 (GRCm39) |
N52S |
probably benign |
Het |
Prss1l |
T |
G |
6: 41,373,621 (GRCm39) |
D161E |
probably benign |
Het |
Psg18 |
A |
T |
7: 18,088,741 (GRCm39) |
M1K |
probably null |
Het |
Ptprz1 |
A |
T |
6: 22,972,843 (GRCm39) |
D251V |
probably damaging |
Het |
Serpinb6a |
A |
G |
13: 34,114,064 (GRCm39) |
Y88H |
possibly damaging |
Het |
Siglecf |
G |
A |
7: 43,004,562 (GRCm39) |
R297Q |
possibly damaging |
Het |
Tbx15 |
T |
C |
3: 99,223,544 (GRCm39) |
V244A |
probably damaging |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Trim39 |
A |
G |
17: 36,574,855 (GRCm39) |
|
probably benign |
Het |
Vps37c |
T |
C |
19: 10,687,781 (GRCm39) |
C81R |
probably damaging |
Het |
Wdr62 |
A |
T |
7: 29,941,187 (GRCm39) |
S744T |
probably benign |
Het |
Zyg11a |
G |
A |
4: 108,062,099 (GRCm39) |
T234I |
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 |
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 |
|
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 |
2013-11-11 |