Incidental Mutation 'IGL00324:Fcrlb'
| ID |
332256 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fcrlb
|
| Ensembl Gene |
ENSMUSG00000070524 |
| Gene Name |
Fc receptor-like B |
| Synonyms |
Fcry, FcRL2, FREB2, mFCRL2, FREB-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
170734842-170740510 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 170736393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 128
(Y128D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094337]
|
| AlphaFold |
Q5DRQ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094337
AA Change: Y128D
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091895
Gene: ENSMUSG00000070524
AA Change: Y128D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IG_like
|
29 |
101 |
1.17e1 |
SMART |
|
IG
|
109 |
191 |
9.34e-4 |
SMART |
|
Blast:IG_like
|
209 |
281 |
2e-38 |
BLAST |
|
low complexity region
|
290 |
306 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit an enhanced antibody response to a T-dependent antigen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
T |
C |
3: 121,570,642 (GRCm39) |
|
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,136,214 (GRCm39) |
L1156Q |
unknown |
Het |
| Ctsl |
T |
C |
13: 64,515,982 (GRCm39) |
Y66C |
probably damaging |
Het |
| Esd |
C |
T |
14: 74,973,467 (GRCm39) |
H21Y |
probably damaging |
Het |
| Gm17027 |
A |
T |
14: 41,981,267 (GRCm39) |
N196K |
unknown |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Hpcal1 |
A |
G |
12: 17,841,146 (GRCm39) |
S175G |
probably benign |
Het |
| Itgam |
A |
T |
7: 127,684,833 (GRCm39) |
D401V |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,389,122 (GRCm39) |
T932A |
probably benign |
Het |
| Lmod1 |
A |
G |
1: 135,292,216 (GRCm39) |
K357R |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,599,186 (GRCm39) |
I3271V |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,248,107 (GRCm39) |
K1692E |
probably damaging |
Het |
| Ocln |
A |
G |
13: 100,671,521 (GRCm39) |
W279R |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,254,130 (GRCm39) |
I80V |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,206 (GRCm39) |
K677R |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,618,702 (GRCm39) |
L586Q |
probably damaging |
Het |
| Plppr3 |
G |
A |
10: 79,702,503 (GRCm39) |
S217L |
probably damaging |
Het |
| Pnldc1 |
A |
T |
17: 13,124,645 (GRCm39) |
|
probably benign |
Het |
| Pramel12 |
T |
A |
4: 143,143,237 (GRCm39) |
M1K |
probably null |
Het |
| Pramel13 |
A |
G |
4: 144,121,310 (GRCm39) |
L238P |
possibly damaging |
Het |
| Sema6b |
C |
T |
17: 56,437,048 (GRCm39) |
D204N |
probably damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,839,041 (GRCm39) |
N1063S |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,565,273 (GRCm39) |
V1205A |
probably benign |
Het |
| Tmem260 |
T |
C |
14: 48,724,336 (GRCm39) |
F205L |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,956,337 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,703,530 (GRCm39) |
*296W |
probably null |
Het |
| Ubr2 |
A |
G |
17: 47,296,986 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,706,684 (GRCm39) |
W505R |
possibly damaging |
Het |
| Wbp11 |
A |
G |
6: 136,798,668 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
A |
T |
2: 166,878,649 (GRCm39) |
M1909K |
possibly damaging |
Het |
|
| Other mutations in Fcrlb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02124:Fcrlb
|
APN |
1 |
170,734,927 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02142:Fcrlb
|
APN |
1 |
170,736,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Fcrlb
|
APN |
1 |
170,735,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0928:Fcrlb
|
UTSW |
1 |
170,735,509 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1460:Fcrlb
|
UTSW |
1 |
170,739,853 (GRCm39) |
splice site |
probably benign |
|
|
R1735:Fcrlb
|
UTSW |
1 |
170,734,901 (GRCm39) |
missense |
probably benign |
|
|
R1806:Fcrlb
|
UTSW |
1 |
170,735,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2078:Fcrlb
|
UTSW |
1 |
170,735,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Fcrlb
|
UTSW |
1 |
170,735,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4570:Fcrlb
|
UTSW |
1 |
170,740,189 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5457:Fcrlb
|
UTSW |
1 |
170,739,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5854:Fcrlb
|
UTSW |
1 |
170,735,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Fcrlb
|
UTSW |
1 |
170,736,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7502:Fcrlb
|
UTSW |
1 |
170,736,210 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7579:Fcrlb
|
UTSW |
1 |
170,735,416 (GRCm39) |
splice site |
probably null |
|
|
R7879:Fcrlb
|
UTSW |
1 |
170,736,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8287:Fcrlb
|
UTSW |
1 |
170,739,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Fcrlb
|
UTSW |
1 |
170,739,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Fcrlb
|
UTSW |
1 |
170,735,536 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9036:Fcrlb
|
UTSW |
1 |
170,734,938 (GRCm39) |
missense |
probably benign |
|
|
R9629:Fcrlb
|
UTSW |
1 |
170,739,735 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9706:Fcrlb
|
UTSW |
1 |
170,735,474 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2015-08-05 |
Incidental Mutation