Incidental Mutation 'IGL03340:Fcer2a'
| ID |
417175 |
| 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 # |
IGL03340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
3731737-3744175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3738310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 120
(D120G)
|
| 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: D121G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000005678
Gene: ENSMUSG00000005540
AA Change: D121G
| 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: D81G
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207635
AA Change: D94G
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208145
AA Change: D120G
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208438
AA Change: D99G
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208492
AA Change: D120G
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208603
AA Change: D99G
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,126,786 (GRCm39) |
L26P |
probably benign |
Het |
| Aff1 |
A |
T |
5: 103,931,670 (GRCm39) |
H104L |
possibly damaging |
Het |
| Apon |
T |
C |
10: 128,090,847 (GRCm39) |
I175T |
probably benign |
Het |
| C2cd6 |
A |
C |
1: 59,115,830 (GRCm39) |
F168V |
probably benign |
Het |
| Cgn |
C |
T |
3: 94,685,405 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
G |
A |
17: 25,192,516 (GRCm39) |
P956L |
probably damaging |
Het |
| Cyp2e1 |
G |
A |
7: 140,344,767 (GRCm39) |
V78M |
probably damaging |
Het |
| Cyp4b1 |
G |
A |
4: 115,499,076 (GRCm39) |
P97S |
probably damaging |
Het |
| Fads2 |
G |
T |
19: 10,069,136 (GRCm39) |
P96Q |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,038,517 (GRCm39) |
S241P |
probably damaging |
Het |
| Gm21972 |
G |
T |
1: 86,061,450 (GRCm39) |
A887S |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,601,003 (GRCm39) |
D295G |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,740,668 (GRCm39) |
V270D |
possibly damaging |
Het |
| Kcnk2 |
T |
A |
1: 189,027,878 (GRCm39) |
I126F |
possibly damaging |
Het |
| Kifap3 |
T |
G |
1: 163,656,718 (GRCm39) |
V346G |
possibly damaging |
Het |
| Kpna1 |
T |
A |
16: 35,820,616 (GRCm39) |
N20K |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 99,916,298 (GRCm39) |
|
probably benign |
Het |
| Krtap9-5 |
T |
C |
11: 99,839,427 (GRCm39) |
C43R |
possibly damaging |
Het |
| Lars1 |
G |
A |
18: 42,361,715 (GRCm39) |
|
probably benign |
Het |
| Lifr |
T |
C |
15: 7,207,417 (GRCm39) |
W540R |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,358,981 (GRCm39) |
S631P |
probably damaging |
Het |
| Mbd1 |
G |
T |
18: 74,407,553 (GRCm39) |
R111L |
probably benign |
Het |
| Meltf |
C |
T |
16: 31,711,602 (GRCm39) |
T576M |
probably damaging |
Het |
| Mmp20 |
G |
A |
9: 7,643,995 (GRCm39) |
G228S |
probably damaging |
Het |
| Mob4 |
A |
G |
1: 55,175,867 (GRCm39) |
D37G |
possibly damaging |
Het |
| Msr1 |
T |
C |
8: 40,073,048 (GRCm39) |
K234E |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,899,607 (GRCm39) |
V1764A |
probably damaging |
Het |
| Naaladl1 |
A |
G |
19: 6,156,229 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Nisch |
A |
G |
14: 30,895,101 (GRCm39) |
V1065A |
probably damaging |
Het |
| Npas4 |
A |
T |
19: 5,035,094 (GRCm39) |
|
probably benign |
Het |
| Or4c124 |
T |
C |
2: 89,156,039 (GRCm39) |
T162A |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,269,997 (GRCm39) |
D280G |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,990,125 (GRCm39) |
I182T |
probably damaging |
Het |
| Ppm1k |
A |
G |
6: 57,487,711 (GRCm39) |
W371R |
probably damaging |
Het |
| Samm50 |
T |
C |
15: 84,082,864 (GRCm39) |
|
probably null |
Het |
| Scaper |
G |
T |
9: 55,510,116 (GRCm39) |
T640K |
possibly damaging |
Het |
| Sun3 |
A |
C |
11: 8,973,285 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,111,451 (GRCm39) |
K1056M |
possibly damaging |
Het |
| Tgs1 |
C |
A |
4: 3,604,813 (GRCm39) |
P745Q |
probably benign |
Het |
| Tomm20l |
A |
T |
12: 71,164,388 (GRCm39) |
|
probably benign |
Het |
| Usp38 |
A |
C |
8: 81,738,905 (GRCm39) |
L237V |
probably damaging |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,644 (GRCm39) |
Y214C |
probably benign |
Het |
| Zan |
G |
A |
5: 137,426,136 (GRCm39) |
P2547S |
unknown |
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 |
|
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 |
2016-08-02 |
Incidental Mutation