Incidental Mutation 'R8287:Fcrlb'
| ID |
638482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcrlb
|
| Ensembl Gene |
ENSMUSG00000070524 |
| Gene Name |
Fc receptor-like B |
| Synonyms |
Fcry, FcRL2, FREB2, mFCRL2, FREB-2 |
| MMRRC Submission |
067709-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
170734842-170740510 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 170739653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 83
(Y83F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094337]
|
| AlphaFold |
Q5DRQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094337
AA Change: Y83F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091895
Gene: ENSMUSG00000070524
AA Change: Y83F
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (27/27) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,220,852 (GRCm39) |
|
probably null |
Het |
| Apcs |
T |
G |
1: 172,721,814 (GRCm39) |
L177F |
possibly damaging |
Het |
| Arsa |
G |
T |
15: 89,357,593 (GRCm39) |
H457N |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,170,799 (GRCm39) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,917,735 (GRCm39) |
Y419C |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,225 (GRCm39) |
D417G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,585,775 (GRCm39) |
S1133P |
probably damaging |
Het |
| Cops2 |
T |
A |
2: 125,701,037 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,899 (GRCm39) |
M472L |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,214,453 (GRCm39) |
Q379L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,534,560 (GRCm39) |
I2019V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,866,157 (GRCm39) |
Y1241C |
unknown |
Het |
| Dock8 |
T |
C |
19: 25,107,825 (GRCm39) |
Y852H |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,805,226 (GRCm39) |
A33T |
possibly damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Gm14180 |
A |
G |
11: 99,625,068 (GRCm39) |
S17P |
unknown |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,265 (GRCm39) |
Q437R |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,430 (GRCm39) |
D707G |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,323,883 (GRCm39) |
Q509R |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,201,258 (GRCm39) |
V214A |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,633 (GRCm39) |
T14A |
probably benign |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,398,880 (GRCm39) |
M2109K |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,660,129 (GRCm39) |
H722R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,308,588 (GRCm39) |
N555S |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zscan18 |
T |
G |
7: 12,509,298 (GRCm39) |
K67N |
unknown |
Het |
|
| Other mutations in Fcrlb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Fcrlb
|
APN |
1 |
170,736,393 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGCTTTTGGACCAGGAAATC -3'
(R):5'- TACTCTGGAGAAGCCTGTACTG -3'
Sequencing Primer
(F):5'- GGAAATCTTTACTGCAGGCTTC -3'
(R):5'- TGGAGAAGCCTGTACTGACTCTAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation