Incidental Mutation 'R3882:Angptl4'
| ID |
312830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angptl4
|
| Ensembl Gene |
ENSMUSG00000002289 |
| Gene Name |
angiopoietin-like 4 |
| Synonyms |
HFARP, BK89, FIAF, NG27 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33993874-34000549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33996008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 323
(P323S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002360]
[ENSMUST00000173869]
|
| AlphaFold |
Q9Z1P8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002360
AA Change: P323S
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002360
Gene: ENSMUSG00000002289
AA Change: P323S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
coiled coil region
|
104 |
151 |
N/A |
INTRINSIC |
|
FBG
|
187 |
404 |
6.6e-69 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173869
|
| SMART Domains |
Protein: ENSMUSP00000133417
Gene: ENSMUSG00000002289
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
coiled coil region
|
104 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174872
|
| Meta Mutation Damage Score |
0.0948 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display decreased levels of triglycerides and cholesterol and a lower increase in body fat after exposure to gut microbiota. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
T |
9: 106,312,708 (GRCm39) |
T181K |
possibly damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,003 (GRCm39) |
F581L |
probably benign |
Het |
| Amhr2 |
G |
A |
15: 102,354,333 (GRCm39) |
G48D |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,525,661 (GRCm39) |
F1979S |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,526 (GRCm39) |
W24R |
probably damaging |
Het |
| C2 |
T |
C |
17: 35,092,465 (GRCm39) |
T191A |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,227,727 (GRCm39) |
T2454S |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,107 (GRCm39) |
E150G |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,595,492 (GRCm39) |
V1444F |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,162 (GRCm39) |
V319A |
possibly damaging |
Het |
| Gpha2 |
T |
C |
19: 6,276,919 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,137,319 (GRCm39) |
N517S |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,927,480 (GRCm39) |
I874N |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,672,462 (GRCm39) |
V1162E |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,012,063 (GRCm39) |
V698D |
possibly damaging |
Het |
| Miip |
A |
C |
4: 147,945,509 (GRCm39) |
S376A |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,435,983 (GRCm39) |
R285Q |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,517 (GRCm39) |
V281A |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,126,099 (GRCm39) |
L194I |
probably damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,624 (GRCm39) |
I369V |
probably benign |
Het |
| Pcdhga10 |
C |
A |
18: 37,880,494 (GRCm39) |
A85E |
possibly damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,899,719 (GRCm39) |
R137G |
possibly damaging |
Het |
| Rcor1 |
C |
T |
12: 111,070,187 (GRCm39) |
A230V |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,312,623 (GRCm39) |
M1191V |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,950,384 (GRCm39) |
D904G |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,662,313 (GRCm39) |
V706E |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,329 (GRCm39) |
C243S |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,092,536 (GRCm39) |
C1083S |
possibly damaging |
Het |
| Zfp952 |
G |
T |
17: 33,220,949 (GRCm39) |
E18* |
probably null |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,862 (GRCm39) |
G509C |
probably damaging |
Het |
|
| Other mutations in Angptl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Angptl4
|
APN |
17 |
34,000,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Angptl4
|
UTSW |
17 |
33,999,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1225:Angptl4
|
UTSW |
17 |
34,000,165 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1491:Angptl4
|
UTSW |
17 |
34,000,165 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1932:Angptl4
|
UTSW |
17 |
34,000,249 (GRCm39) |
nonsense |
probably null |
|
|
R2055:Angptl4
|
UTSW |
17 |
33,999,498 (GRCm39) |
splice site |
probably null |
|
|
R2212:Angptl4
|
UTSW |
17 |
33,994,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2959:Angptl4
|
UTSW |
17 |
33,996,008 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2963:Angptl4
|
UTSW |
17 |
33,996,008 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3877:Angptl4
|
UTSW |
17 |
33,996,008 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3881:Angptl4
|
UTSW |
17 |
33,996,008 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4646:Angptl4
|
UTSW |
17 |
34,000,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4660:Angptl4
|
UTSW |
17 |
33,996,249 (GRCm39) |
intron |
probably benign |
|
|
R6192:Angptl4
|
UTSW |
17 |
33,996,015 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6591:Angptl4
|
UTSW |
17 |
33,999,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6691:Angptl4
|
UTSW |
17 |
33,999,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7350:Angptl4
|
UTSW |
17 |
33,996,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Angptl4
|
UTSW |
17 |
33,999,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Angptl4
|
UTSW |
17 |
34,000,285 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9388:Angptl4
|
UTSW |
17 |
33,996,158 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGCTCTGTGCCAGAATGG -3'
(R):5'- TGCACAGCATCACAGGGAAC -3'
Sequencing Primer
(F):5'- TTCAATGACTGGCCCATAGG -3'
(R):5'- ACCGAGGAAGCCAATTGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation