Incidental Mutation 'R1309:Angptl2'
ID |
157870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Angptl2
|
Ensembl Gene |
ENSMUSG00000004105 |
Gene Name |
angiopoietin-like 2 |
Synonyms |
Arp2 |
MMRRC Submission |
039375-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.257)
|
Stock # |
R1309 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
33106081-33137729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33136140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 442
(A442T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004208
(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: A442T
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000004208 Gene: ENSMUSG00000004105 AA Change: A442T
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: ENSMUST00000143252
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193373
|
SMART Domains |
Protein: ENSMUSP00000142084 Gene: ENSMUSG00000004105
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Fibrinogen_C
|
49 |
112 |
4.2e-21 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.9%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,713,163 (GRCm39) |
I709V |
possibly damaging |
Het |
Asb2 |
A |
G |
12: 103,291,667 (GRCm39) |
V372A |
probably benign |
Het |
Ccm2l |
A |
T |
2: 152,912,844 (GRCm39) |
I129F |
probably damaging |
Het |
Cdkal1 |
T |
A |
13: 29,541,566 (GRCm39) |
I433F |
possibly damaging |
Het |
Cpsf7 |
T |
C |
19: 10,510,831 (GRCm39) |
|
probably null |
Het |
Dhx37 |
C |
T |
5: 125,494,502 (GRCm39) |
W944* |
probably null |
Het |
Dip2a |
A |
G |
10: 76,115,610 (GRCm39) |
L939P |
probably damaging |
Het |
Kera |
A |
G |
10: 97,445,288 (GRCm39) |
T216A |
possibly damaging |
Het |
Lmnb1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
18: 56,872,976 (GRCm39) |
|
probably null |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Prep |
A |
G |
10: 45,002,122 (GRCm39) |
T426A |
probably benign |
Het |
Rxfp1 |
C |
T |
3: 79,570,599 (GRCm39) |
|
probably null |
Het |
Spag6 |
A |
G |
2: 18,739,027 (GRCm39) |
Y319C |
probably damaging |
Het |
Stk24 |
A |
G |
14: 121,540,198 (GRCm39) |
Y134H |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,937,512 (GRCm39) |
I1179V |
probably benign |
Het |
Tedc1 |
A |
G |
12: 113,125,400 (GRCm39) |
E274G |
probably benign |
Het |
Zswim2 |
A |
T |
2: 83,769,100 (GRCm39) |
F87Y |
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 |
IGL02826:Angptl2
|
APN |
2 |
33,118,327 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCACTTCCATTTTCACCTGAG -3'
(R):5'- TGACAGAGCCACATTGGAAAGCAC -3'
Sequencing Primer
(F):5'- gctgcctatctgtaatctaccatc -3'
(R):5'- TTGGAAAGCACAGTCCTCC -3'
|
Posted On |
2014-02-18 |