Incidental Mutation 'R5854:Fcrlb'
ID |
454801 |
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 |
043228-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5854 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
170734842-170740510 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 170735530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 248
(Y248C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094337]
|
AlphaFold |
Q5DRQ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094337
AA Change: Y248C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000091895 Gene: ENSMUSG00000070524 AA Change: Y248C
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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Atg4c |
G |
A |
4: 99,116,796 (GRCm39) |
V313I |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,354,594 (GRCm39) |
E1111G |
possibly damaging |
Het |
Chuk |
T |
C |
19: 44,070,396 (GRCm39) |
H573R |
probably benign |
Het |
Cst13 |
A |
G |
2: 148,670,094 (GRCm39) |
N88S |
probably benign |
Het |
Dalrd3 |
T |
C |
9: 108,447,276 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,351,477 (GRCm39) |
|
probably null |
Het |
Fbxo41 |
A |
G |
6: 85,452,076 (GRCm39) |
L810P |
probably damaging |
Het |
Gmcl1 |
A |
G |
6: 86,691,241 (GRCm39) |
|
silent |
Het |
Gtf3c3 |
C |
A |
1: 54,458,596 (GRCm39) |
A442S |
probably benign |
Het |
Hdac4 |
T |
C |
1: 91,887,143 (GRCm39) |
S799G |
probably damaging |
Het |
Hnrnpa2b1 |
C |
G |
6: 51,443,589 (GRCm39) |
|
probably benign |
Het |
Hnrnpab |
T |
C |
11: 51,495,508 (GRCm39) |
E177G |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,900,884 (GRCm39) |
I862V |
probably benign |
Het |
Lonp2 |
T |
A |
8: 87,399,699 (GRCm39) |
|
probably null |
Het |
Map3k19 |
G |
T |
1: 127,758,092 (GRCm39) |
P363T |
probably damaging |
Het |
Morn3 |
A |
G |
5: 123,179,178 (GRCm39) |
Y91H |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,158,478 (GRCm39) |
D810G |
probably benign |
Het |
Nans |
A |
G |
4: 46,500,180 (GRCm39) |
Y188C |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,186,548 (GRCm39) |
D1E |
probably benign |
Het |
Nelfb |
T |
C |
2: 25,100,005 (GRCm39) |
N204S |
probably damaging |
Het |
Noxo1 |
T |
C |
17: 24,917,516 (GRCm39) |
S31P |
probably damaging |
Het |
Or13a20 |
A |
G |
7: 140,232,491 (GRCm39) |
M200V |
probably benign |
Het |
Or5af1 |
T |
A |
11: 58,722,382 (GRCm39) |
M134K |
probably damaging |
Het |
Or8b50 |
T |
C |
9: 38,517,959 (GRCm39) |
L66S |
probably damaging |
Het |
Pkd1l2 |
T |
G |
8: 117,792,485 (GRCm39) |
T436P |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,445,186 (GRCm39) |
D3686G |
probably damaging |
Het |
Ppp2r5b |
A |
G |
19: 6,280,974 (GRCm39) |
L285S |
probably damaging |
Het |
Pzp |
A |
T |
6: 128,483,832 (GRCm39) |
V522D |
probably benign |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Rpe65 |
A |
G |
3: 159,321,313 (GRCm39) |
D375G |
probably benign |
Het |
Sacs |
C |
T |
14: 61,448,996 (GRCm39) |
L3681F |
probably damaging |
Het |
Sft2d1 |
C |
T |
17: 8,539,485 (GRCm39) |
T96I |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,942,059 (GRCm39) |
N312D |
probably benign |
Het |
Spaca6 |
A |
T |
17: 18,051,509 (GRCm39) |
K82* |
probably null |
Het |
Stk32c |
A |
G |
7: 138,768,195 (GRCm39) |
|
probably benign |
Het |
Tet2 |
T |
A |
3: 133,193,646 (GRCm39) |
N263Y |
probably damaging |
Het |
Uxs1 |
T |
C |
1: 43,819,233 (GRCm39) |
N190S |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGGACACTGGGGTCTTC -3'
(R):5'- AGGAACCCTCTCCAGATAAGGG -3'
Sequencing Primer
(F):5'- AAGGAAAGCGGCTTGTCCC -3'
(R):5'- GGGGTCCCATTGCTCTTGC -3'
|
Posted On |
2017-02-10 |