Incidental Mutation 'R7813:Fcrl5'
| ID |
601282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcrl5
|
| Ensembl Gene |
ENSMUSG00000048031 |
| Gene Name |
Fc receptor-like 5 |
| Synonyms |
Fcrh3, BXMAS1-like protein 2, mBXMH2 |
| MMRRC Submission |
045868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R7813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87343084-87407985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87350930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 147
(T147A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049926]
[ENSMUST00000166297]
[ENSMUST00000178261]
[ENSMUST00000193229]
[ENSMUST00000194102]
|
| AlphaFold |
Q68SN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049926
AA Change: T147A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000050151
Gene: ENSMUSG00000048031
AA Change: T147A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IG
|
40 |
113 |
2.08e-1 |
SMART |
|
IGc2
|
128 |
188 |
6.16e-4 |
SMART |
|
IG_like
|
213 |
296 |
4.41e1 |
SMART |
|
IGc2
|
316 |
380 |
3.97e-7 |
SMART |
|
IG_like
|
410 |
473 |
2.94e-1 |
SMART |
|
transmembrane domain
|
495 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166297
AA Change: T59A
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000131176
Gene: ENSMUSG00000048031
AA Change: T59A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
100 |
6.16e-4 |
SMART |
|
IG_like
|
125 |
208 |
4.41e1 |
SMART |
|
IGc2
|
228 |
292 |
3.97e-7 |
SMART |
|
IG_like
|
322 |
385 |
2.94e-1 |
SMART |
|
transmembrane domain
|
407 |
429 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178261
AA Change: T147A
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136046
Gene: ENSMUSG00000048031
AA Change: T147A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
IG
|
40 |
113 |
2.08e-1 |
SMART |
|
IGc2
|
128 |
188 |
6.16e-4 |
SMART |
|
IG_like
|
213 |
296 |
4.41e1 |
SMART |
|
IGc2
|
316 |
380 |
3.97e-7 |
SMART |
|
IG_like
|
410 |
473 |
2.94e-1 |
SMART |
|
transmembrane domain
|
495 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193229
AA Change: T59A
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141311
Gene: ENSMUSG00000048031
AA Change: T59A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IGc2
|
40 |
100 |
6.16e-4 |
SMART |
|
IG_like
|
125 |
208 |
4.41e1 |
SMART |
|
IGc2
|
228 |
292 |
3.97e-7 |
SMART |
|
IG_like
|
322 |
385 |
2.94e-1 |
SMART |
|
transmembrane domain
|
407 |
429 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194102
AA Change: T147A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142210
Gene: ENSMUSG00000048031
AA Change: T147A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IG
|
40 |
113 |
2.08e-1 |
SMART |
|
IGc2
|
128 |
188 |
6.16e-4 |
SMART |
|
IG_like
|
213 |
296 |
4.41e1 |
SMART |
|
IGc2
|
316 |
380 |
3.97e-7 |
SMART |
|
IG_like
|
410 |
473 |
2.94e-1 |
SMART |
|
transmembrane domain
|
495 |
517 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin receptor superfamily and the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
A |
10: 29,100,896 (GRCm39) |
R423K |
probably benign |
Het |
| Acot7 |
T |
C |
4: 152,307,575 (GRCm39) |
S170P |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,380,620 (GRCm39) |
Q341R |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,082,189 (GRCm39) |
E1206G |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 112,008,133 (GRCm39) |
K122N |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,049,726 (GRCm39) |
L203P |
possibly damaging |
Het |
| C1rb |
A |
T |
6: 124,557,488 (GRCm39) |
I542F |
probably benign |
Het |
| Cadm3 |
C |
A |
1: 173,171,956 (GRCm39) |
V206L |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,885,419 (GRCm39) |
D380G |
probably damaging |
Het |
| Ccdc42 |
A |
T |
11: 68,488,534 (GRCm39) |
Q164L |
probably benign |
Het |
| Ccnd1 |
A |
G |
7: 144,491,622 (GRCm39) |
|
probably null |
Het |
| Cep120 |
T |
C |
18: 53,871,578 (GRCm39) |
D98G |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,554,155 (GRCm39) |
T336A |
probably benign |
Het |
| Clca3a2 |
C |
A |
3: 144,790,726 (GRCm39) |
A449S |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,657,245 (GRCm39) |
F844L |
probably benign |
Het |
| Fbxo11 |
T |
A |
17: 88,308,245 (GRCm39) |
I480F |
|
Het |
| Gm15130 |
T |
A |
2: 110,969,320 (GRCm39) |
I133F |
|
Het |
| Gpr155 |
C |
T |
2: 73,212,329 (GRCm39) |
W98* |
probably null |
Het |
| Hspa4 |
A |
G |
11: 53,162,863 (GRCm39) |
S408P |
probably damaging |
Het |
| Il12rb2 |
G |
A |
6: 67,333,635 (GRCm39) |
R215C |
possibly damaging |
Het |
| Itga5 |
T |
A |
15: 103,265,741 (GRCm39) |
|
probably null |
Het |
| Kcnip3 |
T |
A |
2: 127,323,703 (GRCm39) |
|
probably null |
Het |
| Krt12 |
A |
G |
11: 99,309,309 (GRCm39) |
|
probably null |
Het |
| Marchf3 |
A |
T |
18: 56,916,163 (GRCm39) |
S177R |
probably benign |
Het |
| Minpp1 |
T |
G |
19: 32,468,803 (GRCm39) |
F229V |
probably damaging |
Het |
| Muc2 |
G |
A |
7: 141,282,543 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
G |
11: 68,676,735 (GRCm39) |
T906A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,218,056 (GRCm39) |
D43G |
probably benign |
Het |
| Nacad |
C |
T |
11: 6,549,071 (GRCm39) |
D1327N |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,331,048 (GRCm39) |
Y2219F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,953,163 (GRCm39) |
S1130P |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,486,719 (GRCm39) |
N415S |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,665,678 (GRCm39) |
I293V |
possibly damaging |
Het |
| Prpf38a |
A |
T |
4: 108,436,277 (GRCm39) |
I12N |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,372,413 (GRCm39) |
V1420M |
probably damaging |
Het |
| Qars1 |
A |
G |
9: 108,386,670 (GRCm39) |
D161G |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,247,549 (GRCm39) |
D957E |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,689 (GRCm39) |
Y1400C |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,832,801 (GRCm39) |
I999V |
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,181,958 (GRCm39) |
L1054H |
probably damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,088,455 (GRCm39) |
A906T |
probably damaging |
Het |
| Srd5a2 |
A |
G |
17: 74,331,541 (GRCm39) |
F152S |
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,835,888 (GRCm39) |
L241* |
probably null |
Het |
| Strip2 |
A |
T |
6: 29,923,912 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
A |
C |
6: 42,650,363 (GRCm39) |
Y905* |
probably null |
Het |
| Tet2 |
T |
C |
3: 133,179,404 (GRCm39) |
I1254V |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,487,522 (GRCm39) |
N681I |
probably damaging |
Het |
| Trappc6a |
A |
G |
7: 19,248,124 (GRCm39) |
|
probably null |
Het |
| Trav12-2 |
A |
T |
14: 53,854,223 (GRCm39) |
K66* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,597,841 (GRCm39) |
I19691F |
probably damaging |
Het |
| Tubgcp5 |
A |
T |
7: 55,450,444 (GRCm39) |
Q185L |
possibly damaging |
Het |
| Vmn1r44 |
A |
T |
6: 89,869,192 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,628,820 (GRCm39) |
D2717G |
possibly damaging |
Het |
| Vps13d |
A |
T |
4: 144,904,633 (GRCm39) |
Y133* |
probably null |
Het |
| Zer1 |
T |
C |
2: 30,000,385 (GRCm39) |
D265G |
probably damaging |
Het |
| Zfp710 |
A |
G |
7: 79,730,859 (GRCm39) |
D12G |
possibly damaging |
Het |
| Zfp819 |
T |
C |
7: 43,266,191 (GRCm39) |
S225P |
probably benign |
Het |
|
| Other mutations in Fcrl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01743:Fcrl5
|
APN |
3 |
87,351,598 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01868:Fcrl5
|
APN |
3 |
87,351,014 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01939:Fcrl5
|
APN |
3 |
87,353,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02817:Fcrl5
|
APN |
3 |
87,343,220 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL03106:Fcrl5
|
APN |
3 |
87,343,190 (GRCm39) |
splice site |
probably null |
|
|
R0381:Fcrl5
|
UTSW |
3 |
87,353,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Fcrl5
|
UTSW |
3 |
87,365,099 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0646:Fcrl5
|
UTSW |
3 |
87,349,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1231:Fcrl5
|
UTSW |
3 |
87,349,486 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1353:Fcrl5
|
UTSW |
3 |
87,355,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Fcrl5
|
UTSW |
3 |
87,364,721 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1714:Fcrl5
|
UTSW |
3 |
87,353,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Fcrl5
|
UTSW |
3 |
87,364,704 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2084:Fcrl5
|
UTSW |
3 |
87,351,537 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2358:Fcrl5
|
UTSW |
3 |
87,353,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2884:Fcrl5
|
UTSW |
3 |
87,364,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2885:Fcrl5
|
UTSW |
3 |
87,364,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Fcrl5
|
UTSW |
3 |
87,353,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Fcrl5
|
UTSW |
3 |
87,350,987 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4288:Fcrl5
|
UTSW |
3 |
87,349,531 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4289:Fcrl5
|
UTSW |
3 |
87,349,531 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4614:Fcrl5
|
UTSW |
3 |
87,355,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Fcrl5
|
UTSW |
3 |
87,351,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Fcrl5
|
UTSW |
3 |
87,364,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Fcrl5
|
UTSW |
3 |
87,351,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Fcrl5
|
UTSW |
3 |
87,361,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5373:Fcrl5
|
UTSW |
3 |
87,353,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5374:Fcrl5
|
UTSW |
3 |
87,353,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5963:Fcrl5
|
UTSW |
3 |
87,351,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5975:Fcrl5
|
UTSW |
3 |
87,349,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6022:Fcrl5
|
UTSW |
3 |
87,363,070 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6267:Fcrl5
|
UTSW |
3 |
87,355,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Fcrl5
|
UTSW |
3 |
87,351,501 (GRCm39) |
nonsense |
probably null |
|
|
R6393:Fcrl5
|
UTSW |
3 |
87,355,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Fcrl5
|
UTSW |
3 |
87,365,141 (GRCm39) |
makesense |
probably null |
|
|
R7175:Fcrl5
|
UTSW |
3 |
87,353,645 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7210:Fcrl5
|
UTSW |
3 |
87,353,719 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7217:Fcrl5
|
UTSW |
3 |
87,351,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Fcrl5
|
UTSW |
3 |
87,349,552 (GRCm39) |
missense |
probably benign |
|
|
R7776:Fcrl5
|
UTSW |
3 |
87,351,502 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8357:Fcrl5
|
UTSW |
3 |
87,351,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8457:Fcrl5
|
UTSW |
3 |
87,351,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9257:Fcrl5
|
UTSW |
3 |
87,343,195 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9276:Fcrl5
|
UTSW |
3 |
87,343,138 (GRCm39) |
start gained |
probably benign |
|
|
R9748:Fcrl5
|
UTSW |
3 |
87,364,469 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0054:Fcrl5
|
UTSW |
3 |
87,353,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTTTCTCAAGGTGCAGGTG -3'
(R):5'- CTTGGACTTGAACTACGACCG -3'
Sequencing Primer
(F):5'- AAAGAATTCATGCTTTCTCCACTTC -3'
(R):5'- GGACTTGAACTACGACCGTATTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation