Incidental Mutation 'R4788:Fcrl5'
| ID |
472954 |
| Institutional Source |
Beutler Lab
|
| 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: 0.053)
|
| Stock # |
R4788 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87343084-87407985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87364495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 470
(N470S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049926]
[ENSMUST00000166297]
[ENSMUST00000178261]
[ENSMUST00000193229]
[ENSMUST00000194102]
|
| AlphaFold |
Q68SN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049926
AA Change: N558S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000050151
Gene: ENSMUSG00000048031
AA Change: N558S
| 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: N470S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131176
Gene: ENSMUSG00000048031
AA Change: N470S
| 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: N558S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136046
Gene: ENSMUSG00000048031
AA Change: N558S
| 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: N470S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141311
Gene: ENSMUSG00000048031
AA Change: N470S
| 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: N558S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000142210
Gene: ENSMUSG00000048031
AA Change: N558S
| 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: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,960,361 (GRCm39) |
D815N |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,566,456 (GRCm39) |
C1135* |
probably null |
Het |
| Ap3b1 |
G |
A |
13: 94,702,149 (GRCm39) |
M1067I |
unknown |
Het |
| Arhgap15 |
T |
C |
2: 43,638,902 (GRCm39) |
M1T |
probably null |
Het |
| Boc |
T |
C |
16: 44,320,796 (GRCm39) |
D288G |
probably damaging |
Het |
| Brsk1 |
G |
T |
7: 4,701,954 (GRCm39) |
|
probably null |
Het |
| Cabp1 |
T |
C |
5: 115,313,530 (GRCm39) |
N226S |
probably benign |
Het |
| Capn13 |
A |
T |
17: 73,644,427 (GRCm39) |
Y367* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,777,185 (GRCm39) |
E632G |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,071,565 (GRCm39) |
S591P |
probably damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,190,427 (GRCm39) |
V118A |
possibly damaging |
Het |
| Cndp2 |
T |
C |
18: 84,693,289 (GRCm39) |
N157S |
probably damaging |
Het |
| Col6a3 |
A |
G |
1: 90,700,672 (GRCm39) |
|
probably null |
Het |
| Coq2 |
A |
T |
5: 100,805,775 (GRCm39) |
V287E |
probably damaging |
Het |
| Cpa6 |
T |
C |
1: 10,478,502 (GRCm39) |
K278R |
possibly damaging |
Het |
| Cracdl |
A |
T |
1: 37,670,556 (GRCm39) |
I128K |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,921,892 (GRCm39) |
Y347* |
probably null |
Het |
| Dcun1d4 |
G |
T |
5: 73,691,971 (GRCm39) |
W160L |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,738,200 (GRCm39) |
T994A |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,582,760 (GRCm39) |
T229A |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,106,513 (GRCm39) |
R1741S |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,747,213 (GRCm39) |
V1508D |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,484,721 (GRCm39) |
T117A |
possibly damaging |
Het |
| Dtnb |
A |
G |
12: 3,822,699 (GRCm39) |
D533G |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,275,706 (GRCm39) |
V1105E |
unknown |
Het |
| Fry |
T |
C |
5: 150,323,101 (GRCm39) |
V1084A |
probably benign |
Het |
| Gabra1 |
G |
T |
11: 42,037,980 (GRCm39) |
R213S |
probably damaging |
Het |
| Gbp2b |
A |
C |
3: 142,317,171 (GRCm39) |
K509T |
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,491,104 (GRCm39) |
T811A |
probably benign |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,400 (GRCm39) |
D101G |
probably damaging |
Het |
| Ifna11 |
G |
A |
4: 88,738,245 (GRCm39) |
W17* |
probably null |
Het |
| Ighv1-62-3 |
T |
A |
12: 115,424,672 (GRCm39) |
M100L |
probably benign |
Het |
| Lgmn |
T |
A |
12: 102,368,936 (GRCm39) |
Y181F |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,043,076 (GRCm39) |
S644P |
probably benign |
Het |
| Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
| Nav1 |
C |
T |
1: 135,397,461 (GRCm39) |
A903T |
probably benign |
Het |
| Nop53 |
T |
C |
7: 15,676,240 (GRCm39) |
E153G |
possibly damaging |
Het |
| Nop56 |
G |
T |
2: 130,120,820 (GRCm39) |
V190L |
probably benign |
Het |
| Nyap2 |
A |
T |
1: 81,247,112 (GRCm39) |
M687L |
probably benign |
Het |
| Or4a81 |
G |
A |
2: 89,619,480 (GRCm39) |
S72F |
probably damaging |
Het |
| Or8g17 |
T |
C |
9: 38,930,217 (GRCm39) |
T207A |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,095,908 (GRCm39) |
T145A |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,813,320 (GRCm39) |
K183R |
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,611,487 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,208,124 (GRCm39) |
Q244R |
possibly damaging |
Het |
| Pcdh9 |
C |
A |
14: 94,124,851 (GRCm39) |
V317F |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,417 (GRCm39) |
Q489L |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,286,675 (GRCm39) |
S164R |
probably benign |
Het |
| Ptf1a |
T |
C |
2: 19,450,762 (GRCm39) |
S31P |
probably benign |
Het |
| Rasal3 |
A |
T |
17: 32,618,312 (GRCm39) |
D164E |
probably benign |
Het |
| Rnf170 |
A |
G |
8: 26,630,891 (GRCm39) |
E168G |
probably damaging |
Het |
| Rubcn |
A |
G |
16: 32,656,778 (GRCm39) |
|
probably null |
Het |
| Sec16b |
A |
T |
1: 157,389,094 (GRCm39) |
T830S |
possibly damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,289,175 (GRCm39) |
V882A |
probably benign |
Het |
| Sfpq |
A |
G |
4: 126,919,791 (GRCm39) |
E512G |
probably damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,302,518 (GRCm39) |
L187P |
probably damaging |
Het |
| Skint6 |
C |
T |
4: 113,095,533 (GRCm39) |
G42D |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,367,023 (GRCm39) |
I526V |
probably benign |
Het |
| Spmip7 |
T |
C |
11: 11,438,652 (GRCm39) |
|
probably null |
Het |
| Ssh2 |
A |
T |
11: 77,320,624 (GRCm39) |
N328Y |
probably damaging |
Het |
| Taok2 |
G |
A |
7: 126,467,304 (GRCm39) |
S167L |
possibly damaging |
Het |
| Tom1l2 |
A |
G |
11: 60,139,844 (GRCm39) |
L275P |
probably damaging |
Het |
| Trgv5 |
A |
G |
13: 19,376,724 (GRCm39) |
K57R |
probably benign |
Het |
| Tyrp1 |
C |
T |
4: 80,763,180 (GRCm39) |
R356* |
probably null |
Het |
| Zan |
A |
G |
5: 137,440,375 (GRCm39) |
L1953P |
unknown |
Het |
| Zfhx3 |
T |
C |
8: 109,520,842 (GRCm39) |
S655P |
probably damaging |
Het |
| Zmym1 |
T |
C |
4: 126,948,090 (GRCm39) |
T94A |
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 |
|
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'- GCCTCTTACATACCATGGGG -3'
(R):5'- AAATCACGTTTTCCTCAGGCTC -3'
Sequencing Primer
(F):5'- TTACATACCATGGGGGCACAACATAG -3'
(R):5'- TCCTCAGGCTCTATTTAGGAAGAAGG -3'
|
| Posted On |
2017-04-14 |
Incidental Mutation