Incidental Mutation 'R6575:Fcrla'
ID |
523376 |
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 |
044699-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6575 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
170745163-170755169 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 170749797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 87
(S87P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046322]
[ENSMUST00000159149]
[ENSMUST00000159171]
[ENSMUST00000162136]
[ENSMUST00000162887]
|
AlphaFold |
Q920A9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046322
AA Change: S87P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036380 Gene: ENSMUSG00000038421 AA Change: S87P
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 damaging
Transcript: ENSMUST00000159149
AA Change: S58P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125074 Gene: ENSMUSG00000038421 AA Change: S58P
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
IG
|
66 |
148 |
5.75e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159171
AA Change: S86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124853 Gene: ENSMUSG00000038421 AA Change: S86P
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 |
noncoding transcript
Transcript: ENSMUST00000159266
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161050
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162136
AA Change: S87P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124859 Gene: ENSMUSG00000038421 AA Change: S87P
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 damaging
Transcript: ENSMUST00000162887
AA Change: S25P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124469 Gene: ENSMUSG00000038421 AA Change: S25P
Domain | Start | End | E-Value | Type |
Pfam:Ig_2
|
28 |
78 |
1.4e-7 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,330,683 (GRCm39) |
Y1177C |
probably damaging |
Het |
Acnat1 |
A |
G |
4: 49,450,785 (GRCm39) |
Y109H |
possibly damaging |
Het |
Adgrf3 |
T |
A |
5: 30,401,522 (GRCm39) |
K835N |
possibly damaging |
Het |
Afg1l |
T |
C |
10: 42,194,712 (GRCm39) |
D360G |
probably damaging |
Het |
Ap3s1 |
C |
T |
18: 46,887,448 (GRCm39) |
T27M |
probably benign |
Het |
Atp8b4 |
A |
G |
2: 126,256,284 (GRCm39) |
L225P |
probably damaging |
Het |
Bicra |
G |
A |
7: 15,713,056 (GRCm39) |
T997I |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,995,411 (GRCm39) |
R112G |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,561,535 (GRCm39) |
T989A |
possibly damaging |
Het |
Cog1 |
C |
A |
11: 113,546,887 (GRCm39) |
Q494K |
probably benign |
Het |
Cyb5rl |
T |
C |
4: 106,942,550 (GRCm39) |
Y160H |
probably benign |
Het |
Dnajb8 |
A |
G |
6: 88,200,057 (GRCm39) |
N198D |
probably damaging |
Het |
Eif1ad11 |
T |
C |
12: 87,994,117 (GRCm39) |
I115T |
probably damaging |
Het |
Eif3l |
C |
A |
15: 78,970,778 (GRCm39) |
Q351K |
possibly damaging |
Het |
Esr1 |
T |
C |
10: 4,916,301 (GRCm39) |
|
probably benign |
Het |
Fam3c |
G |
T |
6: 22,329,607 (GRCm39) |
A40D |
probably damaging |
Het |
Glra1 |
A |
G |
11: 55,411,822 (GRCm39) |
Y246H |
probably damaging |
Het |
Gm45871 |
T |
A |
18: 90,609,844 (GRCm39) |
C361S |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,547,347 (GRCm39) |
N1522D |
possibly damaging |
Het |
Hcn4 |
T |
C |
9: 58,731,435 (GRCm39) |
M214T |
unknown |
Het |
Heatr5b |
A |
T |
17: 79,070,418 (GRCm39) |
V1665E |
probably damaging |
Het |
Hemgn |
C |
A |
4: 46,395,990 (GRCm39) |
M415I |
possibly damaging |
Het |
Hibadh |
G |
A |
6: 52,524,013 (GRCm39) |
T295I |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,878,745 (GRCm39) |
L947P |
probably damaging |
Het |
Icam2 |
G |
A |
11: 106,269,585 (GRCm39) |
T178I |
probably damaging |
Het |
Lbr |
A |
G |
1: 181,663,763 (GRCm39) |
S86P |
probably damaging |
Het |
Lipe |
G |
A |
7: 25,082,749 (GRCm39) |
T801I |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,518,934 (GRCm39) |
T44A |
possibly damaging |
Het |
Malrd1 |
A |
G |
2: 15,847,439 (GRCm39) |
H1193R |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Myh10 |
A |
G |
11: 68,699,676 (GRCm39) |
I1671V |
probably benign |
Het |
Or2c1 |
A |
G |
16: 3,656,894 (GRCm39) |
D19G |
probably benign |
Het |
Osbpl9 |
T |
C |
4: 108,930,129 (GRCm39) |
D334G |
possibly damaging |
Het |
Pdcd11 |
A |
G |
19: 47,098,117 (GRCm39) |
D801G |
probably damaging |
Het |
Pfdn4 |
C |
A |
2: 170,358,556 (GRCm39) |
D16E |
probably benign |
Het |
Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
Rrp9 |
C |
T |
9: 106,360,778 (GRCm39) |
T253I |
probably damaging |
Het |
Speer1m |
A |
T |
5: 11,970,612 (GRCm39) |
K62* |
probably null |
Het |
Tnrc6a |
A |
G |
7: 122,769,133 (GRCm39) |
T308A |
probably damaging |
Het |
Trgv4 |
T |
A |
13: 19,369,250 (GRCm39) |
C34S |
probably benign |
Het |
Trhr |
A |
G |
15: 44,092,602 (GRCm39) |
M280V |
possibly damaging |
Het |
Trp53bp1 |
G |
A |
2: 121,059,084 (GRCm39) |
H926Y |
probably damaging |
Het |
Trpv5 |
A |
T |
6: 41,652,903 (GRCm39) |
I90K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
Vav1 |
A |
C |
17: 57,612,280 (GRCm39) |
R513S |
probably damaging |
Het |
Vmn2r100 |
A |
T |
17: 19,741,671 (GRCm39) |
T128S |
probably benign |
Het |
Zfp687 |
T |
C |
3: 94,915,700 (GRCm39) |
Y1024C |
probably damaging |
Het |
Zfp938 |
C |
A |
10: 82,061,160 (GRCm39) |
G487* |
probably null |
Het |
Znrf2 |
A |
G |
6: 54,855,430 (GRCm39) |
Y73C |
probably damaging |
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 |
R7369:Fcrla
|
UTSW |
1 |
170,749,886 (GRCm39) |
missense |
probably benign |
0.23 |
R7786:Fcrla
|
UTSW |
1 |
170,748,426 (GRCm39) |
missense |
possibly damaging |
0.93 |
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'- AGACTGCTCACGGTATTTCCTC -3'
(R):5'- TCCCCAAGTTGCAGTATCATTC -3'
Sequencing Primer
(F):5'- CACGGTATTTCCTCACCCTG -3'
(R):5'- AGCAGCTGCCAGTTCAGAGAC -3'
|
Posted On |
2018-06-22 |