Incidental Mutation 'R7217:Fcrl5'
ID |
561524 |
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 |
045289-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R7217 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
87343084-87407985 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87351081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 197
(T197M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049926]
[ENSMUST00000166297]
[ENSMUST00000178261]
[ENSMUST00000193229]
[ENSMUST00000194102]
|
AlphaFold |
Q68SN8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049926
AA Change: T197M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050151 Gene: ENSMUSG00000048031 AA Change: T197M
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 damaging
Transcript: ENSMUST00000166297
AA Change: T109M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131176 Gene: ENSMUSG00000048031 AA Change: T109M
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 damaging
Transcript: ENSMUST00000178261
AA Change: T197M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136046 Gene: ENSMUSG00000048031 AA Change: T197M
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 damaging
Transcript: ENSMUST00000193229
AA Change: T109M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141311 Gene: ENSMUSG00000048031 AA Change: T109M
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 damaging
Transcript: ENSMUST00000194102
AA Change: T197M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142210 Gene: ENSMUSG00000048031 AA Change: T197M
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
91% (40/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
Abcg3 |
A |
G |
5: 105,087,094 (GRCm39) |
F543L |
possibly damaging |
Het |
Asnsd1 |
T |
C |
1: 53,387,352 (GRCm39) |
T92A |
probably damaging |
Het |
Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
Car14 |
A |
G |
3: 95,806,629 (GRCm39) |
S250P |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
Gpr68 |
A |
G |
12: 100,845,058 (GRCm39) |
V162A |
possibly damaging |
Het |
Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
Kif20a |
T |
A |
18: 34,762,613 (GRCm39) |
H495Q |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
Rbm25 |
G |
A |
12: 83,710,991 (GRCm39) |
R368Q |
unknown |
Het |
Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
Slc35b2 |
A |
G |
17: 45,875,955 (GRCm39) |
T55A |
probably benign |
Het |
Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,743,367 (GRCm39) |
V66A |
probably damaging |
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 |
R7243:Fcrl5
|
UTSW |
3 |
87,349,552 (GRCm39) |
missense |
probably benign |
|
R7776:Fcrl5
|
UTSW |
3 |
87,351,502 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7813:Fcrl5
|
UTSW |
3 |
87,350,930 (GRCm39) |
missense |
probably benign |
0.09 |
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'- TTTTCTGGTGCTGCAAGCTC -3'
(R):5'- GGTGCTGCTTTTGATTACCCAC -3'
Sequencing Primer
(F):5'- TTCTGAGGTGCTACGCAAAG -3'
(R):5'- TGATTACCCACATCCTCCCAC -3'
|
Posted On |
2019-06-26 |