Incidental Mutation 'R6796:Fcer2a'
ID |
533012 |
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 |
044909-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6796 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
3731737-3744175 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3739830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 47
(H47R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005678]
[ENSMUST00000207463]
[ENSMUST00000207635]
[ENSMUST00000208145]
[ENSMUST00000208438]
[ENSMUST00000208492]
[ENSMUST00000208603]
|
AlphaFold |
P20693 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005678
AA Change: H48R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000005678 Gene: ENSMUSG00000005540 AA Change: H48R
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 |
possibly damaging
Transcript: ENSMUST00000207463
AA Change: D8G
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207635
AA Change: H21R
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208145
AA Change: H47R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208438
AA Change: H47R
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208492
AA Change: H47R
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208603
AA Change: H47R
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
Meta Mutation Damage Score |
0.0805 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
98% (41/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,620,597 (GRCm39) |
V3950A |
probably damaging |
Het |
App |
A |
G |
16: 84,917,455 (GRCm39) |
I63T |
probably damaging |
Het |
Bpifb4 |
A |
T |
2: 153,803,467 (GRCm39) |
K381N |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,603,607 (GRCm39) |
A529T |
probably damaging |
Het |
Cdh18 |
T |
A |
15: 23,446,159 (GRCm39) |
N536K |
probably damaging |
Het |
Dpy19l1 |
C |
A |
9: 24,414,158 (GRCm39) |
R90L |
possibly damaging |
Het |
E2f3 |
A |
G |
13: 30,102,568 (GRCm39) |
V231A |
possibly damaging |
Het |
F930015N05Rik |
A |
T |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
Hcar2 |
A |
G |
5: 124,003,330 (GRCm39) |
S58P |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,953,558 (GRCm39) |
T625A |
possibly damaging |
Het |
Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
Itgax |
C |
T |
7: 127,734,236 (GRCm39) |
A336V |
probably damaging |
Het |
Lin37 |
A |
T |
7: 30,256,341 (GRCm39) |
V140E |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,874,595 (GRCm39) |
I1341K |
unknown |
Het |
Map4k5 |
T |
C |
12: 69,864,799 (GRCm39) |
I561V |
probably benign |
Het |
Mcc |
A |
G |
18: 44,857,627 (GRCm39) |
S163P |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,290,039 (GRCm39) |
T158A |
probably damaging |
Het |
Or5an6 |
A |
T |
19: 12,372,292 (GRCm39) |
I222F |
probably damaging |
Het |
Or5b119 |
A |
G |
19: 13,457,278 (GRCm39) |
C95R |
probably damaging |
Het |
Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
Pax8 |
A |
T |
2: 24,331,098 (GRCm39) |
M200K |
probably benign |
Het |
Plcd4 |
T |
C |
1: 74,601,229 (GRCm39) |
S498P |
probably benign |
Het |
Poglut1 |
T |
C |
16: 38,349,972 (GRCm39) |
Y267C |
probably damaging |
Het |
Pom121l2 |
T |
C |
13: 22,167,694 (GRCm39) |
I655T |
probably benign |
Het |
Proca1 |
G |
T |
11: 78,085,754 (GRCm39) |
R19L |
probably benign |
Het |
Prr30 |
A |
G |
14: 101,436,380 (GRCm39) |
S61P |
probably benign |
Het |
Ranbp17 |
T |
C |
11: 33,167,398 (GRCm39) |
S1022G |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,387,469 (GRCm39) |
H1037R |
probably damaging |
Het |
Rpl34 |
G |
T |
3: 130,522,926 (GRCm39) |
T6K |
probably damaging |
Het |
Scaper |
T |
C |
9: 55,771,711 (GRCm39) |
T402A |
probably benign |
Het |
Selenow |
A |
T |
7: 15,653,996 (GRCm39) |
V52E |
probably damaging |
Het |
Septin14 |
T |
A |
5: 129,774,822 (GRCm39) |
I118L |
probably benign |
Het |
Sis |
A |
T |
3: 72,872,951 (GRCm39) |
N62K |
probably benign |
Het |
Sit1 |
A |
T |
4: 43,482,761 (GRCm39) |
C133S |
probably benign |
Het |
Susd3 |
ACC |
AC |
13: 49,391,041 (GRCm39) |
|
probably null |
Het |
Svep1 |
A |
G |
4: 58,064,275 (GRCm39) |
V3236A |
probably benign |
Het |
Taf12 |
G |
A |
4: 132,016,725 (GRCm39) |
V168I |
possibly damaging |
Het |
Tas2r139 |
A |
T |
6: 42,118,526 (GRCm39) |
R219S |
probably damaging |
Het |
Tmc1 |
A |
T |
19: 20,776,400 (GRCm39) |
V653D |
probably damaging |
Het |
Utp23 |
T |
A |
15: 51,741,007 (GRCm39) |
L30Q |
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 |
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 |
|
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 |
PCR Primer
(F):5'- AGAAGTTTTCTACTGAGATAGAGGC -3'
(R):5'- TCTGTGGCGTAAGGACATCC -3'
Sequencing Primer
(F):5'- AGATAGAGGCTATCCATTGGTTCCC -3'
(R):5'- CGTAAGGACATCCGCAGC -3'
|
Posted On |
2018-08-29 |