Incidental Mutation 'R7786:Fcrla'
| ID |
599519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcrla
|
| Ensembl Gene |
ENSMUSG00000038421 |
| Gene Name |
Fc receptor-like A |
| Synonyms |
mFREB, Freb1, Fcrx, mFcrX, FREB, FCRL1 |
| MMRRC Submission |
045842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
170745163-170755169 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 170748426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 265
(P265Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046322]
[ENSMUST00000159149]
[ENSMUST00000159171]
[ENSMUST00000162136]
[ENSMUST00000162887]
|
| AlphaFold |
Q920A9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046322
AA Change: P265Q
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036380
Gene: ENSMUSG00000038421
AA Change: P265Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
IG
|
95 |
177 |
5.75e-4 |
SMART |
|
IG
|
188 |
272 |
1.4e-7 |
SMART |
|
low complexity region
|
281 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159149
|
| SMART Domains |
Protein: ENSMUSP00000125074
Gene: ENSMUSG00000038421
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
IG
|
66 |
148 |
5.75e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159171
AA Change: P264Q
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124853
Gene: ENSMUSG00000038421
AA Change: P264Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
IG
|
94 |
176 |
5.75e-4 |
SMART |
|
IG
|
187 |
271 |
1.4e-7 |
SMART |
|
low complexity region
|
280 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162136
|
| SMART Domains |
Protein: ENSMUSP00000124859
Gene: ENSMUSG00000038421
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
Pfam:Ig_2
|
83 |
150 |
2.2e-6 |
PFAM |
|
Pfam:Ig_2
|
156 |
215 |
1e-3 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162887
|
| SMART Domains |
Protein: ENSMUSP00000124469
Gene: ENSMUSG00000038421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ig_2
|
28 |
78 |
1.4e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit largely normal T-dependent and T-independent antibody responses with an increase in IgG1 after secondary challenge with sheep red blood cells. [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 |
|---|
| Acaa2 |
T |
C |
18: 74,925,518 (GRCm39) |
S94P |
probably damaging |
Het |
| Adam18 |
C |
T |
8: 25,101,134 (GRCm39) |
R676H |
probably benign |
Het |
| Akna |
A |
G |
4: 63,313,199 (GRCm39) |
L308P |
probably benign |
Het |
| Ambra1 |
G |
C |
2: 91,598,141 (GRCm39) |
V101L |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,392,267 (GRCm39) |
D377G |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,612,092 (GRCm39) |
W179R |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,001,077 (GRCm39) |
Q159K |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,984,478 (GRCm39) |
H3935Q |
probably damaging |
Het |
| Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
| Gabbr1 |
A |
T |
17: 37,380,955 (GRCm39) |
N766I |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 74,016,976 (GRCm39) |
T27S |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,766,403 (GRCm39) |
S391T |
probably benign |
Het |
| Gatad2b |
T |
C |
3: 90,262,986 (GRCm39) |
I476T |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Gtf2ird1 |
C |
A |
5: 134,419,753 (GRCm39) |
G71* |
probably null |
Het |
| Hdac11 |
T |
A |
6: 91,150,158 (GRCm39) |
L319* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,506 (GRCm39) |
W4R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,466 (GRCm39) |
I1278V |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,798,965 (GRCm39) |
E240V |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,812,085 (GRCm39) |
Q180* |
probably null |
Het |
| Megf8 |
T |
C |
7: 25,017,120 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,313,511 (GRCm39) |
T892A |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,276,764 (GRCm39) |
S413N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,397,733 (GRCm39) |
D812G |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,050 (GRCm39) |
I71N |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,193,916 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,930 (GRCm39) |
R309H |
unknown |
Het |
| Or52p1 |
T |
A |
7: 104,266,925 (GRCm39) |
I13N |
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,576,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,310,024 (GRCm39) |
M432T |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,586,757 (GRCm39) |
T430I |
probably benign |
Het |
| Poc5 |
C |
A |
13: 96,541,027 (GRCm39) |
Q399K |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,036,992 (GRCm39) |
G2013R |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,190,568 (GRCm39) |
D52G |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,901,276 (GRCm39) |
F2488V |
probably damaging |
Het |
| Tnfaip8 |
G |
C |
18: 50,180,178 (GRCm39) |
A110P |
unknown |
Het |
| Tnfaip8 |
C |
T |
18: 50,180,179 (GRCm39) |
A110V |
unknown |
Het |
| Top3a |
C |
T |
11: 60,667,792 (GRCm39) |
A46T |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,332,463 (GRCm39) |
S40T |
possibly damaging |
Het |
| Vav2 |
C |
A |
2: 27,276,613 (GRCm39) |
L70F |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,242,702 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fcrla |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Fcrla
|
APN |
1 |
170,755,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01712:Fcrla
|
APN |
1 |
170,749,192 (GRCm39) |
splice site |
probably null |
|
|
IGL03323:Fcrla
|
APN |
1 |
170,755,114 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0113:Fcrla
|
UTSW |
1 |
170,749,868 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R1457:Fcrla
|
UTSW |
1 |
170,748,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Fcrla
|
UTSW |
1 |
170,755,095 (GRCm39) |
nonsense |
probably null |
|
|
R4331:Fcrla
|
UTSW |
1 |
170,749,245 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4819:Fcrla
|
UTSW |
1 |
170,748,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4923:Fcrla
|
UTSW |
1 |
170,748,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Fcrla
|
UTSW |
1 |
170,749,959 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5441:Fcrla
|
UTSW |
1 |
170,752,991 (GRCm39) |
intron |
probably benign |
|
|
R5459:Fcrla
|
UTSW |
1 |
170,745,738 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6575:Fcrla
|
UTSW |
1 |
170,749,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7369:Fcrla
|
UTSW |
1 |
170,749,886 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9276:Fcrla
|
UTSW |
1 |
170,755,135 (GRCm39) |
unclassified |
probably benign |
|
|
R9482:Fcrla
|
UTSW |
1 |
170,745,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9585:Fcrla
|
UTSW |
1 |
170,749,868 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R9622:Fcrla
|
UTSW |
1 |
170,749,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTTGGCTTGTTCCACAG -3'
(R):5'- AGCTGTCAGACAAAGCTGG -3'
Sequencing Primer
(F):5'- GCTTGTTCCACAGTCCAAGGAAG -3'
(R):5'- TGTCAGACAAAGCTGGCCCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation