Incidental Mutation 'IGL01743:Fcrl5'
ID |
152920 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fcrl5
|
Ensembl Gene |
ENSMUSG00000048031 |
Gene Name |
Fc receptor-like 5 |
Synonyms |
Fcrh3, BXMAS1-like protein 2, mBXMH2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
IGL01743
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
87343084-87407985 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87351598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 282
(V282A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049926]
[ENSMUST00000166297]
[ENSMUST00000178261]
[ENSMUST00000193229]
[ENSMUST00000194102]
|
AlphaFold |
Q68SN8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049926
AA Change: V282A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000050151 Gene: ENSMUSG00000048031 AA Change: V282A
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: V194A
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000131176 Gene: ENSMUSG00000048031 AA Change: V194A
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: V282A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000136046 Gene: ENSMUSG00000048031 AA Change: V282A
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: V194A
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141311 Gene: ENSMUSG00000048031 AA Change: V194A
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 |
possibly damaging
Transcript: ENSMUST00000194102
AA Change: V282A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142210 Gene: ENSMUSG00000048031 AA Change: V282A
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 |
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
T |
7: 45,646,238 (GRCm39) |
N750K |
probably benign |
Het |
Ackr2 |
T |
C |
9: 121,738,566 (GRCm39) |
C314R |
probably benign |
Het |
Adar |
C |
T |
3: 89,652,747 (GRCm39) |
Q210* |
probably null |
Het |
Aifm1 |
A |
G |
X: 47,569,153 (GRCm39) |
|
probably benign |
Het |
Aldoa |
G |
T |
7: 126,395,875 (GRCm39) |
D198E |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 103,002,201 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
G |
T |
8: 3,414,697 (GRCm39) |
C25F |
probably benign |
Het |
Btnl1 |
T |
C |
17: 34,604,659 (GRCm39) |
I480T |
probably damaging |
Het |
Capn9 |
T |
C |
8: 125,318,508 (GRCm39) |
S125P |
probably benign |
Het |
Cd40lg |
T |
A |
X: 56,257,592 (GRCm39) |
Y26* |
probably null |
Het |
Cdc42bpg |
G |
T |
19: 6,359,853 (GRCm39) |
|
probably null |
Het |
Cdh10 |
T |
C |
15: 18,986,855 (GRCm39) |
L362P |
probably benign |
Het |
Dhx16 |
A |
G |
17: 36,199,000 (GRCm39) |
D782G |
probably damaging |
Het |
Dnajb14 |
G |
T |
3: 137,611,761 (GRCm39) |
V320L |
possibly damaging |
Het |
Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
Ercc6 |
T |
C |
14: 32,274,561 (GRCm39) |
V568A |
probably damaging |
Het |
Faf2 |
T |
C |
13: 54,789,311 (GRCm39) |
|
probably null |
Het |
Fbrsl1 |
C |
T |
5: 110,529,506 (GRCm39) |
V223M |
probably damaging |
Het |
Fxr2 |
C |
T |
11: 69,543,448 (GRCm39) |
L650F |
possibly damaging |
Het |
Gabrq |
A |
G |
X: 71,880,448 (GRCm39) |
M314V |
probably benign |
Het |
Gnas |
T |
A |
2: 174,140,125 (GRCm39) |
Y157* |
probably null |
Het |
Gtf2i |
T |
C |
5: 134,315,747 (GRCm39) |
E175G |
probably damaging |
Het |
Gtf3c1 |
A |
C |
7: 125,262,587 (GRCm39) |
Y1091D |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,132,069 (GRCm39) |
Q345* |
probably null |
Het |
Hydin |
T |
C |
8: 111,319,408 (GRCm39) |
V4437A |
possibly damaging |
Het |
Idi2 |
T |
A |
13: 9,008,578 (GRCm39) |
L112Q |
probably damaging |
Het |
Ift80 |
C |
T |
3: 68,869,629 (GRCm39) |
V221M |
probably benign |
Het |
Il16 |
A |
G |
7: 83,301,507 (GRCm39) |
F205S |
probably benign |
Het |
Irf1 |
T |
A |
11: 53,665,277 (GRCm39) |
M218K |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,270,144 (GRCm39) |
N114S |
probably benign |
Het |
Itgae |
T |
C |
11: 73,002,585 (GRCm39) |
V114A |
probably benign |
Het |
Klhdc10 |
A |
G |
6: 30,441,933 (GRCm39) |
|
probably null |
Het |
Krt78 |
C |
A |
15: 101,859,333 (GRCm39) |
R288L |
probably benign |
Het |
Lars2 |
A |
T |
9: 123,282,313 (GRCm39) |
L632F |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,235,919 (GRCm39) |
D1220G |
probably damaging |
Het |
Msl1 |
C |
T |
11: 98,696,245 (GRCm39) |
T597I |
probably damaging |
Het |
Mtor |
T |
C |
4: 148,615,070 (GRCm39) |
|
probably benign |
Het |
Myo1b |
T |
C |
1: 51,821,179 (GRCm39) |
T435A |
probably damaging |
Het |
Neb |
A |
G |
2: 52,115,679 (GRCm39) |
Y4176H |
probably damaging |
Het |
Nxpe3 |
A |
G |
16: 55,670,128 (GRCm39) |
F326L |
probably benign |
Het |
Or13a21 |
T |
C |
7: 139,999,581 (GRCm39) |
Y35C |
probably damaging |
Het |
Or2ag1 |
A |
G |
7: 106,313,541 (GRCm39) |
S116P |
possibly damaging |
Het |
Pak5 |
T |
A |
2: 135,929,333 (GRCm39) |
R617W |
probably damaging |
Het |
Peak1 |
C |
A |
9: 56,166,486 (GRCm39) |
V481L |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,281,267 (GRCm39) |
|
probably benign |
Het |
Pmm1 |
C |
T |
15: 81,844,987 (GRCm39) |
E6K |
probably benign |
Het |
Ppp2r5c |
G |
A |
12: 110,546,868 (GRCm39) |
V454M |
probably benign |
Het |
Ptprf |
C |
T |
4: 118,106,095 (GRCm39) |
|
probably null |
Het |
Pygm |
G |
A |
19: 6,443,024 (GRCm39) |
|
probably null |
Het |
Rimbp2 |
T |
A |
5: 128,874,912 (GRCm39) |
|
probably benign |
Het |
Rps6ka5 |
A |
T |
12: 100,541,892 (GRCm39) |
|
probably null |
Het |
Scarb2 |
A |
G |
5: 92,608,662 (GRCm39) |
V188A |
probably benign |
Het |
Sfrp1 |
T |
A |
8: 23,902,354 (GRCm39) |
|
probably benign |
Het |
Siglec15 |
T |
A |
18: 78,086,820 (GRCm39) |
|
probably benign |
Het |
Smgc |
A |
G |
15: 91,738,796 (GRCm39) |
I485V |
probably benign |
Het |
Tas2r124 |
A |
G |
6: 132,731,798 (GRCm39) |
I36V |
probably benign |
Het |
Trmt10b |
G |
T |
4: 45,305,879 (GRCm39) |
G185W |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,727,352 (GRCm39) |
N798S |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,619,896 (GRCm39) |
T15924N |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,587,301 (GRCm39) |
Y912N |
possibly damaging |
Het |
Vmn2r113 |
T |
C |
17: 23,177,285 (GRCm39) |
Y690H |
probably benign |
Het |
Vmn2r51 |
T |
C |
7: 9,834,154 (GRCm39) |
R295G |
probably damaging |
Het |
Vpreb3 |
A |
G |
10: 75,784,231 (GRCm39) |
T14A |
probably benign |
Het |
|
Other mutations in Fcrl5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-02-04 |