Incidental Mutation 'IGL02826:Angptl2'
ID |
361201 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Angptl2
|
Ensembl Gene |
ENSMUSG00000004105 |
Gene Name |
angiopoietin-like 2 |
Synonyms |
Arp2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.257)
|
Stock # |
IGL02826
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
33106081-33137729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33118327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 34
(S34P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004208]
[ENSMUST00000042615]
[ENSMUST00000091039]
[ENSMUST00000113165]
[ENSMUST00000131298]
[ENSMUST00000193373]
|
AlphaFold |
Q9R045 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004208
AA Change: S34P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000004208 Gene: ENSMUSG00000004105 AA Change: S34P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
coiled coil region
|
77 |
113 |
N/A |
INTRINSIC |
coiled coil region
|
152 |
180 |
N/A |
INTRINSIC |
low complexity region
|
205 |
228 |
N/A |
INTRINSIC |
FBG
|
273 |
488 |
3.62e-107 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042615
|
SMART Domains |
Protein: ENSMUSP00000048451 Gene: ENSMUSG00000038831
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
RasGEF
|
46 |
273 |
4.59e-86 |
SMART |
low complexity region
|
286 |
301 |
N/A |
INTRINSIC |
PH
|
372 |
485 |
1.87e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091039
|
SMART Domains |
Protein: ENSMUSP00000088563 Gene: ENSMUSG00000038831
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
RasGEF
|
46 |
290 |
7.54e-105 |
SMART |
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
low complexity region
|
397 |
411 |
N/A |
INTRINSIC |
PH
|
460 |
573 |
1.87e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113165
|
SMART Domains |
Protein: ENSMUSP00000108790 Gene: ENSMUSG00000038831
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
RasGEF
|
46 |
290 |
7.54e-105 |
SMART |
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
low complexity region
|
397 |
411 |
N/A |
INTRINSIC |
PH
|
459 |
572 |
1.87e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131298
|
SMART Domains |
Protein: ENSMUSP00000118363 Gene: ENSMUSG00000038831
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
RasGEF
|
46 |
290 |
7.54e-105 |
SMART |
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
PH
|
390 |
503 |
1.87e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193373
AA Change: S34P
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000142084 Gene: ENSMUSG00000004105 AA Change: S34P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Fibrinogen_C
|
49 |
112 |
4.2e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143252
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008] PHENOTYPE: When fed a high-fat diet, mice homozygous for a knock-out allele show decreased weight gain, reduced adipocity, a lower respiratory quotient, reduced inflammation in adipose tissues, enhanced glucose tolerance, and increased insulin sensitivity in both skeletal muscle and liver relative to controls. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,655,302 (GRCm39) |
|
probably benign |
Het |
Alk |
C |
T |
17: 72,176,531 (GRCm39) |
G1591D |
probably damaging |
Het |
Atp2a2 |
A |
G |
5: 122,627,354 (GRCm39) |
V137A |
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,366,770 (GRCm39) |
M845V |
probably damaging |
Het |
Camk1d |
A |
G |
2: 5,570,571 (GRCm39) |
V30A |
possibly damaging |
Het |
Ceacam19 |
G |
A |
7: 19,616,535 (GRCm39) |
T193I |
probably benign |
Het |
Cfap298 |
A |
C |
16: 90,722,950 (GRCm39) |
D261E |
probably benign |
Het |
Chst15 |
T |
A |
7: 131,868,475 (GRCm39) |
D315V |
probably damaging |
Het |
Cux1 |
G |
T |
5: 136,336,857 (GRCm39) |
P885Q |
probably damaging |
Het |
Cyth1 |
C |
T |
11: 118,076,307 (GRCm39) |
E88K |
possibly damaging |
Het |
Dido1 |
A |
G |
2: 180,325,751 (GRCm39) |
V479A |
probably benign |
Het |
Dlc1 |
G |
T |
8: 37,037,429 (GRCm39) |
|
probably benign |
Het |
H2-Ab1 |
G |
A |
17: 34,483,885 (GRCm39) |
R82Q |
probably damaging |
Het |
Hps6 |
T |
A |
19: 45,994,480 (GRCm39) |
*806K |
probably null |
Het |
Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
Kdm1b |
C |
A |
13: 47,233,943 (GRCm39) |
T759K |
probably damaging |
Het |
Kirrel1 |
C |
A |
3: 86,995,792 (GRCm39) |
V381F |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,276,569 (GRCm39) |
V1701E |
probably damaging |
Het |
Lrmda |
T |
C |
14: 22,878,805 (GRCm39) |
Y100H |
probably damaging |
Het |
Mastl |
T |
C |
2: 23,035,421 (GRCm39) |
I169V |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,991,630 (GRCm39) |
E1576G |
probably damaging |
Het |
Nek3 |
A |
T |
8: 22,650,384 (GRCm39) |
|
probably null |
Het |
Nipal3 |
G |
T |
4: 135,195,861 (GRCm39) |
Y247* |
probably null |
Het |
Nt5e |
A |
C |
9: 88,237,758 (GRCm39) |
K229N |
probably damaging |
Het |
Opa1 |
A |
G |
16: 29,429,705 (GRCm39) |
M290V |
probably null |
Het |
Or2a14 |
A |
G |
6: 43,130,511 (GRCm39) |
I91V |
possibly damaging |
Het |
Or8d6 |
G |
T |
9: 39,854,254 (GRCm39) |
G233C |
probably damaging |
Het |
Parp2 |
T |
A |
14: 51,052,872 (GRCm39) |
I155K |
probably benign |
Het |
Pde4dip |
G |
T |
3: 97,674,403 (GRCm39) |
A171E |
probably damaging |
Het |
Prom2 |
C |
T |
2: 127,373,036 (GRCm39) |
E678K |
probably benign |
Het |
Rab12 |
A |
G |
17: 66,805,111 (GRCm39) |
|
probably benign |
Het |
Rgs8 |
A |
T |
1: 153,546,545 (GRCm39) |
T13S |
probably damaging |
Het |
Setd3 |
A |
G |
12: 108,078,383 (GRCm39) |
|
probably benign |
Het |
Shisal1 |
A |
G |
15: 84,304,330 (GRCm39) |
|
probably benign |
Het |
Slx4ip |
G |
A |
2: 136,846,893 (GRCm39) |
V53I |
probably damaging |
Het |
Stil |
A |
G |
4: 114,881,295 (GRCm39) |
D613G |
probably benign |
Het |
Tektip1 |
A |
G |
10: 81,200,570 (GRCm39) |
|
probably benign |
Het |
Tjp3 |
T |
A |
10: 81,109,523 (GRCm39) |
S858C |
probably damaging |
Het |
Tmem215 |
A |
G |
4: 40,474,632 (GRCm39) |
*236W |
probably null |
Het |
Ttbk1 |
A |
G |
17: 46,781,586 (GRCm39) |
V389A |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,693,707 (GRCm39) |
F2706S |
possibly damaging |
Het |
Xpo4 |
C |
A |
14: 57,866,877 (GRCm39) |
V222L |
possibly damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,236,809 (GRCm39) |
S428G |
probably benign |
Het |
Zfp286 |
T |
C |
11: 62,678,786 (GRCm39) |
Q47R |
probably damaging |
Het |
Zfp318 |
A |
G |
17: 46,709,680 (GRCm39) |
K468E |
probably damaging |
Het |
|
Other mutations in Angptl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Angptl2
|
APN |
2 |
33,118,406 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00585:Angptl2
|
APN |
2 |
33,136,239 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00900:Angptl2
|
APN |
2 |
33,133,784 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01521:Angptl2
|
APN |
2 |
33,136,215 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02711:Angptl2
|
APN |
2 |
33,118,255 (GRCm39) |
missense |
probably benign |
0.00 |
Bloodhound
|
UTSW |
2 |
33,118,342 (GRCm39) |
missense |
probably benign |
|
Grazie
|
UTSW |
2 |
33,133,922 (GRCm39) |
nonsense |
probably null |
|
Huntress
|
UTSW |
2 |
33,118,814 (GRCm39) |
missense |
probably benign |
0.02 |
R1309:Angptl2
|
UTSW |
2 |
33,136,140 (GRCm39) |
missense |
probably benign |
0.38 |
R1541:Angptl2
|
UTSW |
2 |
33,136,177 (GRCm39) |
missense |
probably benign |
0.26 |
R1542:Angptl2
|
UTSW |
2 |
33,118,897 (GRCm39) |
missense |
probably benign |
0.24 |
R1604:Angptl2
|
UTSW |
2 |
33,133,785 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3432:Angptl2
|
UTSW |
2 |
33,118,814 (GRCm39) |
missense |
probably benign |
0.02 |
R4331:Angptl2
|
UTSW |
2 |
33,118,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R4652:Angptl2
|
UTSW |
2 |
33,133,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R4741:Angptl2
|
UTSW |
2 |
33,136,200 (GRCm39) |
missense |
probably benign |
0.12 |
R5107:Angptl2
|
UTSW |
2 |
33,118,615 (GRCm39) |
missense |
probably damaging |
0.98 |
R5504:Angptl2
|
UTSW |
2 |
33,119,050 (GRCm39) |
intron |
probably benign |
|
R5694:Angptl2
|
UTSW |
2 |
33,118,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R5967:Angptl2
|
UTSW |
2 |
33,118,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R6185:Angptl2
|
UTSW |
2 |
33,119,026 (GRCm39) |
missense |
probably benign |
0.00 |
R6797:Angptl2
|
UTSW |
2 |
33,118,277 (GRCm39) |
missense |
probably benign |
0.00 |
R7151:Angptl2
|
UTSW |
2 |
33,133,922 (GRCm39) |
nonsense |
probably null |
|
R7471:Angptl2
|
UTSW |
2 |
33,133,751 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7742:Angptl2
|
UTSW |
2 |
33,133,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R7763:Angptl2
|
UTSW |
2 |
33,132,394 (GRCm39) |
nonsense |
probably null |
|
R8719:Angptl2
|
UTSW |
2 |
33,133,914 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8927:Angptl2
|
UTSW |
2 |
33,132,316 (GRCm39) |
missense |
probably benign |
0.35 |
R8928:Angptl2
|
UTSW |
2 |
33,132,316 (GRCm39) |
missense |
probably benign |
0.35 |
R9204:Angptl2
|
UTSW |
2 |
33,118,342 (GRCm39) |
missense |
probably benign |
|
R9663:Angptl2
|
UTSW |
2 |
33,118,231 (GRCm39) |
missense |
probably benign |
0.02 |
R9775:Angptl2
|
UTSW |
2 |
33,118,230 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
Posted On |
2015-12-18 |