Incidental Mutation 'R3085:Fcrl5'
| ID |
265567 |
| 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 |
040574-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R3085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87343084-87407985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87353771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 372
(Y372C)
|
| 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: Y372C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050151
Gene: ENSMUSG00000048031
AA Change: Y372C
| 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: Y284C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131176
Gene: ENSMUSG00000048031
AA Change: Y284C
| 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: Y372C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136046
Gene: ENSMUSG00000048031
AA Change: Y372C
| 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: Y284C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141311
Gene: ENSMUSG00000048031
AA Change: Y284C
| 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: Y372C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142210
Gene: ENSMUSG00000048031
AA Change: Y372C
| 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 |
0.4412 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,270,536 (GRCm39) |
|
probably benign |
Het |
| Adrm1 |
T |
C |
2: 179,816,094 (GRCm39) |
|
probably null |
Het |
| Aldh18a1 |
T |
C |
19: 40,562,813 (GRCm39) |
I76V |
probably benign |
Het |
| Atp1b2 |
T |
C |
11: 69,493,705 (GRCm39) |
K125E |
possibly damaging |
Het |
| Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,923,018 (GRCm39) |
T293A |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,185,476 (GRCm39) |
V345D |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,628,979 (GRCm39) |
E131G |
unknown |
Het |
| Col4a4 |
C |
T |
1: 82,507,285 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
G |
T |
2: 91,825,789 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,341,445 (GRCm39) |
D601G |
probably benign |
Het |
| Dipk1a |
G |
T |
5: 108,062,290 (GRCm39) |
D28E |
probably damaging |
Het |
| Dnaaf4 |
T |
A |
9: 72,879,688 (GRCm39) |
N289K |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,759,332 (GRCm39) |
E807G |
probably damaging |
Het |
| Exog |
C |
A |
9: 119,291,518 (GRCm39) |
T241K |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,344,314 (GRCm39) |
D109G |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,142,997 (GRCm39) |
R4284H |
possibly damaging |
Het |
| Fbxw13 |
C |
A |
9: 109,013,299 (GRCm39) |
G130* |
probably null |
Het |
| Gli3 |
T |
C |
13: 15,835,526 (GRCm39) |
S435P |
probably damaging |
Het |
| Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
| Havcr1 |
C |
T |
11: 46,647,052 (GRCm39) |
T162I |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,039,340 (GRCm39) |
F947S |
probably damaging |
Het |
| Irx1 |
G |
T |
13: 72,111,411 (GRCm39) |
A66E |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
| Kynu |
A |
G |
2: 43,492,312 (GRCm39) |
M190V |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,297,479 (GRCm39) |
T3161A |
probably benign |
Het |
| Macrod1 |
G |
T |
19: 7,173,859 (GRCm39) |
A208S |
probably damaging |
Het |
| Mamdc2 |
G |
A |
19: 23,288,296 (GRCm39) |
H581Y |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
| Mthfd1l |
G |
A |
10: 4,040,007 (GRCm39) |
R806H |
probably benign |
Het |
| Nags |
T |
A |
11: 102,036,810 (GRCm39) |
V133D |
probably damaging |
Het |
| Nrg3 |
C |
A |
14: 38,092,906 (GRCm39) |
D560Y |
probably damaging |
Het |
| Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
| Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
| Or4p23 |
A |
G |
2: 88,576,488 (GRCm39) |
F248S |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,708,553 (GRCm39) |
S240P |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,475,248 (GRCm39) |
|
probably null |
Het |
| Plekhf1 |
T |
C |
7: 37,921,001 (GRCm39) |
E189G |
probably benign |
Het |
| Ppm1b |
A |
T |
17: 85,321,288 (GRCm39) |
I477L |
probably benign |
Het |
| Rad51ap2 |
C |
A |
12: 11,506,758 (GRCm39) |
Q227K |
possibly damaging |
Het |
| Rnf125 |
T |
C |
18: 21,110,787 (GRCm39) |
V15A |
probably benign |
Het |
| Rnps1 |
C |
T |
17: 24,631,393 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,798,898 (GRCm39) |
I953V |
possibly damaging |
Het |
| Sash1 |
A |
T |
10: 8,618,186 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
T |
C |
10: 128,324,028 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,584,672 (GRCm39) |
E224V |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,221,356 (GRCm39) |
V357A |
probably benign |
Het |
| Synpo2l |
T |
C |
14: 20,712,248 (GRCm39) |
D350G |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,064,913 (GRCm39) |
N1448Y |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,273,227 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
| Tmem40 |
T |
C |
6: 115,718,576 (GRCm39) |
D43G |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,725,871 (GRCm39) |
C156S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,081 (GRCm39) |
M419V |
probably benign |
Het |
| Wdr73 |
G |
A |
7: 80,550,990 (GRCm39) |
|
probably benign |
Het |
| Zc3hc1 |
C |
T |
6: 30,374,763 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,682,664 (GRCm39) |
Y3368H |
unknown |
Het |
| Zfp263 |
G |
A |
16: 3,567,580 (GRCm39) |
E632K |
probably damaging |
Het |
| Zfp266 |
A |
G |
9: 20,412,240 (GRCm39) |
L111P |
probably damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,587 (GRCm39) |
S189R |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,206,699 (GRCm39) |
R331G |
possibly damaging |
Het |
| Zkscan5 |
G |
A |
5: 145,157,889 (GRCm39) |
C797Y |
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 |
|
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 |
|
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'- TGAAGGGCAGTTGCTGTTAC -3'
(R):5'- GGCAAACATTACAGAATTGGGC -3'
Sequencing Primer
(F):5'- AAGGGCAGTTGCTGTTACTCAAC -3'
(R):5'- CCCTGTACTGGGGCATATAAAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation