Incidental Mutation 'R4289:Fcrl5'
| ID |
322318 |
| 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 |
041654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4289 (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 87349531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 102
(D102G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049926]
[ENSMUST00000166297]
[ENSMUST00000178261]
[ENSMUST00000193229]
[ENSMUST00000194102]
|
| AlphaFold |
Q68SN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049926
AA Change: D102G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000050151
Gene: ENSMUSG00000048031
AA Change: D102G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000131176
Gene: ENSMUSG00000048031
| 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: D102G
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000136046
Gene: ENSMUSG00000048031
AA Change: D102G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141311
Gene: ENSMUSG00000048031
| 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: D102G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142210
Gene: ENSMUSG00000048031
AA Change: D102G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (56/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
C |
T |
3: 32,766,263 (GRCm39) |
T39M |
possibly damaging |
Het |
| Arhgdib |
T |
C |
6: 136,901,156 (GRCm39) |
N191S |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,497,353 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,947,233 (GRCm39) |
R1139C |
probably damaging |
Het |
| Cdhr5 |
A |
T |
7: 140,852,752 (GRCm39) |
I78N |
probably damaging |
Het |
| Cfap97 |
T |
A |
8: 46,645,698 (GRCm39) |
N525K |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,455,481 (GRCm39) |
Y252F |
probably benign |
Het |
| Cyp3a57 |
G |
A |
5: 145,286,207 (GRCm39) |
G48S |
probably damaging |
Het |
| Cyp4v3 |
A |
C |
8: 45,781,260 (GRCm39) |
F73V |
possibly damaging |
Het |
| Ear10 |
T |
C |
14: 44,160,404 (GRCm39) |
D141G |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
| Fdxacb1 |
A |
T |
9: 50,683,879 (GRCm39) |
Q614L |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,290,331 (GRCm39) |
T59A |
probably damaging |
Het |
| Gm5581 |
C |
T |
6: 131,144,519 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
G |
T |
7: 40,808,336 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,884 (GRCm39) |
T200A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ift122 |
T |
C |
6: 115,900,852 (GRCm39) |
C1057R |
probably damaging |
Het |
| Kirrel3 |
A |
T |
9: 34,934,769 (GRCm39) |
N73I |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,490,798 (GRCm39) |
I433M |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,747,530 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,673,665 (GRCm39) |
K110* |
probably null |
Het |
| Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
| Mrpl36 |
A |
T |
13: 73,479,777 (GRCm39) |
|
probably null |
Het |
| Mypn |
T |
C |
10: 62,966,961 (GRCm39) |
E905G |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,468,472 (GRCm39) |
T329N |
probably damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,516 (GRCm39) |
L157P |
probably damaging |
Het |
| Or14c45 |
T |
A |
7: 86,176,262 (GRCm39) |
I99N |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,319 (GRCm39) |
S10T |
probably benign |
Het |
| Pappa |
C |
T |
4: 65,074,100 (GRCm39) |
A218V |
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,196,884 (GRCm39) |
Y737H |
probably benign |
Het |
| Plod2 |
G |
A |
9: 92,485,041 (GRCm39) |
R514Q |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,943,420 (GRCm39) |
R1888W |
probably damaging |
Het |
| Prss45 |
A |
G |
9: 110,669,997 (GRCm39) |
T269A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,681,151 (GRCm39) |
T784A |
probably damaging |
Het |
| Pycr3 |
T |
C |
15: 75,790,655 (GRCm39) |
N68S |
probably benign |
Het |
| Rbis |
T |
C |
3: 14,674,714 (GRCm39) |
M1V |
probably null |
Het |
| Rdh14 |
A |
T |
12: 10,444,949 (GRCm39) |
N267Y |
probably benign |
Het |
| Rph3a |
G |
A |
5: 121,111,368 (GRCm39) |
R71C |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,928,523 (GRCm39) |
V27E |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,417,771 (GRCm39) |
S312T |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,937 (GRCm39) |
|
probably null |
Het |
| Trdn |
C |
T |
10: 33,340,578 (GRCm39) |
S604L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
| Tyw3 |
A |
T |
3: 154,302,645 (GRCm39) |
F30I |
probably damaging |
Het |
| Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,562 (GRCm39) |
M261I |
probably benign |
Het |
| Zfp217 |
C |
T |
2: 169,956,707 (GRCm39) |
G764S |
probably benign |
Het |
| Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
| Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
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 |
|
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'- GGACCACTTTCTTTCGAGGAGAG -3'
(R):5'- ACATGAATTCTGTGCCATATCTGG -3'
Sequencing Primer
(F):5'- AGAGGTCGTCACACTGACTTG -3'
(R):5'- GTGCCATATCTGGTTCTCTATAGAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation