Incidental Mutation 'R5250:Fgl2'
| ID |
398927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgl2
|
| Ensembl Gene |
ENSMUSG00000039899 |
| Gene Name |
fibrinogen-like protein 2 |
| Synonyms |
|
| MMRRC Submission |
042821-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R5250 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21577671-21583384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21580521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 288
(S288G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030552]
[ENSMUST00000035799]
[ENSMUST00000115245]
|
| AlphaFold |
P12804 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030552
|
| SMART Domains |
Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035799
AA Change: S288G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046131
Gene: ENSMUSG00000039899
AA Change: S288G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
|
coiled coil region
|
71 |
158 |
N/A |
INTRINSIC |
|
FBG
|
201 |
428 |
1.6e-131 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115245
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
438 |
477 |
N/A |
INTRINSIC |
|
coiled coil region
|
549 |
595 |
N/A |
INTRINSIC |
|
coiled coil region
|
617 |
663 |
N/A |
INTRINSIC |
|
coiled coil region
|
690 |
720 |
N/A |
INTRINSIC |
|
coiled coil region
|
770 |
793 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2253 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice for one allele have unaltered type 1 immunity responses. Homozygous null mice for another allele show partial embryonic lethality, hemorrhage at implantation sites, decreased susceptibility to hepatitis virus infection and prolongedsurvival of heart grafts. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,135,182 (GRCm39) |
K236* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,460,069 (GRCm39) |
V109A |
probably benign |
Het |
| Adora2a |
T |
C |
10: 75,161,882 (GRCm39) |
I7T |
probably damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,860,335 (GRCm39) |
V36A |
probably damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,540,955 (GRCm39) |
|
probably null |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atg2b |
G |
A |
12: 105,602,024 (GRCm39) |
R1651W |
probably damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,933,870 (GRCm39) |
V553D |
possibly damaging |
Het |
| Bard1 |
G |
A |
1: 71,113,722 (GRCm39) |
L420F |
probably damaging |
Het |
| Bcat1 |
C |
G |
6: 144,993,165 (GRCm39) |
|
probably null |
Het |
| Bpifb5 |
A |
T |
2: 154,066,881 (GRCm39) |
N45Y |
probably benign |
Het |
| Btbd17 |
G |
T |
11: 114,682,234 (GRCm39) |
|
probably benign |
Het |
| Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 114,010,819 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,456,305 (GRCm39) |
N784D |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,283,152 (GRCm39) |
V555D |
probably damaging |
Het |
| Dixdc1 |
T |
G |
9: 50,595,035 (GRCm39) |
E230A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,412,514 (GRCm39) |
V4041G |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,334,968 (GRCm39) |
I1021L |
probably damaging |
Het |
| Flt4 |
T |
A |
11: 49,521,227 (GRCm39) |
I412N |
possibly damaging |
Het |
| Gabrb1 |
A |
G |
5: 72,026,922 (GRCm39) |
I141V |
possibly damaging |
Het |
| Gpc2 |
A |
G |
5: 138,277,230 (GRCm39) |
Y66H |
probably damaging |
Het |
| Hoxd3 |
C |
T |
2: 74,574,650 (GRCm39) |
Q99* |
probably null |
Het |
| Inpp5d |
T |
C |
1: 87,637,397 (GRCm39) |
V781A |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,221,013 (GRCm39) |
|
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,618 (GRCm39) |
S674R |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,340,467 (GRCm39) |
T561A |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,694,259 (GRCm39) |
Q83L |
probably benign |
Het |
| Mucl2 |
T |
C |
15: 103,927,733 (GRCm39) |
N75D |
possibly damaging |
Het |
| Myh13 |
C |
T |
11: 67,218,085 (GRCm39) |
Q53* |
probably null |
Het |
| Myot |
T |
A |
18: 44,479,137 (GRCm39) |
D291E |
probably damaging |
Het |
| Nae1 |
A |
G |
8: 105,257,023 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
A |
T |
1: 13,294,913 (GRCm39) |
S2R |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,858 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,842,869 (GRCm39) |
|
probably benign |
Het |
| Or10aa3 |
T |
G |
1: 173,878,838 (GRCm39) |
F300V |
probably benign |
Het |
| Or14j4 |
A |
G |
17: 37,920,851 (GRCm39) |
S264P |
probably damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,430 (GRCm39) |
T254A |
probably benign |
Het |
| P2rx2 |
T |
C |
5: 110,489,454 (GRCm39) |
E160G |
probably damaging |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,990 (GRCm39) |
D666V |
probably damaging |
Het |
| Pcm1 |
A |
T |
8: 41,765,242 (GRCm39) |
E1484D |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
| Potefam1 |
T |
G |
2: 111,058,422 (GRCm39) |
T124P |
possibly damaging |
Het |
| Ppm1e |
T |
C |
11: 87,121,744 (GRCm39) |
I738V |
probably benign |
Het |
| Ppp1r13b |
G |
T |
12: 111,811,394 (GRCm39) |
R165S |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,343 (GRCm39) |
W129R |
probably damaging |
Het |
| Smurf2 |
A |
G |
11: 106,747,005 (GRCm39) |
|
probably null |
Het |
| Spmap1 |
C |
A |
11: 97,663,553 (GRCm39) |
W99L |
possibly damaging |
Het |
| Ubr2 |
G |
T |
17: 47,241,368 (GRCm39) |
Q1729K |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,392 (GRCm39) |
H97Q |
probably damaging |
Het |
| Zfp429 |
G |
T |
13: 67,538,638 (GRCm39) |
R269S |
probably benign |
Het |
| Zfp568 |
T |
C |
7: 29,716,655 (GRCm39) |
V185A |
probably benign |
Het |
|
| Other mutations in Fgl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Fgl2
|
APN |
5 |
21,578,175 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01623:Fgl2
|
APN |
5 |
21,578,175 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02056:Fgl2
|
APN |
5 |
21,580,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03128:Fgl2
|
APN |
5 |
21,578,291 (GRCm39) |
missense |
probably benign |
|
|
A4554:Fgl2
|
UTSW |
5 |
21,577,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0049:Fgl2
|
UTSW |
5 |
21,580,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0049:Fgl2
|
UTSW |
5 |
21,580,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0052:Fgl2
|
UTSW |
5 |
21,580,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Fgl2
|
UTSW |
5 |
21,580,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Fgl2
|
UTSW |
5 |
21,580,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Fgl2
|
UTSW |
5 |
21,580,521 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1336:Fgl2
|
UTSW |
5 |
21,578,181 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1703:Fgl2
|
UTSW |
5 |
21,577,730 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1893:Fgl2
|
UTSW |
5 |
21,580,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2371:Fgl2
|
UTSW |
5 |
21,580,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Fgl2
|
UTSW |
5 |
21,580,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5422:Fgl2
|
UTSW |
5 |
21,580,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6759:Fgl2
|
UTSW |
5 |
21,578,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7808:Fgl2
|
UTSW |
5 |
21,578,229 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7812:Fgl2
|
UTSW |
5 |
21,577,896 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7838:Fgl2
|
UTSW |
5 |
21,577,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8177:Fgl2
|
UTSW |
5 |
21,578,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8725:Fgl2
|
UTSW |
5 |
21,580,677 (GRCm39) |
nonsense |
probably null |
|
|
R8727:Fgl2
|
UTSW |
5 |
21,580,677 (GRCm39) |
nonsense |
probably null |
|
|
R9114:Fgl2
|
UTSW |
5 |
21,580,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Fgl2
|
UTSW |
5 |
21,577,920 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9513:Fgl2
|
UTSW |
5 |
21,580,790 (GRCm39) |
nonsense |
probably null |
|
|
R9606:Fgl2
|
UTSW |
5 |
21,577,991 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0017:Fgl2
|
UTSW |
5 |
21,580,650 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0026:Fgl2
|
UTSW |
5 |
21,580,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAACAGCAGCTTTGAGGTC -3'
(R):5'- GGTACCGATCGTTGTCTCTG -3'
Sequencing Primer
(F):5'- AACAGCAGCTTTGAGGTCTACTG -3'
(R):5'- AAACCTCAGGTCATGGTTGTAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation