Incidental Mutation 'R6797:Angptl2'
ID |
533038 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Angptl2
|
Ensembl Gene |
ENSMUSG00000004105 |
Gene Name |
angiopoietin-like 2 |
Synonyms |
Arp2 |
MMRRC Submission |
044910-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.257)
|
Stock # |
R6797 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
33106081-33137729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33118277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 17
(V17A)
|
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: V17A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000004208 Gene: ENSMUSG00000004105 AA Change: V17A
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 |
probably benign
Transcript: ENSMUST00000193373
AA Change: V17A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000142084 Gene: ENSMUSG00000004105 AA Change: V17A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Fibrinogen_C
|
49 |
112 |
4.2e-21 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
Validation Efficiency |
100% (42/42) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c18 |
T |
A |
13: 4,195,276 (GRCm39) |
I61L |
probably benign |
Het |
Casp14 |
T |
C |
10: 78,550,975 (GRCm39) |
D70G |
possibly damaging |
Het |
Cckbr |
A |
G |
7: 105,083,773 (GRCm39) |
M234V |
possibly damaging |
Het |
Cd93 |
T |
C |
2: 148,284,044 (GRCm39) |
N434S |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,943,899 (GRCm39) |
Q938L |
possibly damaging |
Het |
Col6a3 |
A |
C |
1: 90,731,810 (GRCm39) |
V1481G |
probably damaging |
Het |
Dnah5 |
G |
T |
15: 28,233,384 (GRCm39) |
E248* |
probably null |
Het |
Dnah5 |
G |
A |
15: 28,451,609 (GRCm39) |
R4349Q |
probably damaging |
Het |
F11 |
A |
G |
8: 45,706,092 (GRCm39) |
Y98H |
probably benign |
Het |
Fen1 |
A |
G |
19: 10,178,067 (GRCm39) |
F126L |
probably benign |
Het |
Gpr146 |
G |
A |
5: 139,378,795 (GRCm39) |
G199D |
possibly damaging |
Het |
Gramd1b |
A |
G |
9: 40,219,702 (GRCm39) |
I324T |
probably benign |
Het |
H2bc12 |
A |
T |
13: 22,220,259 (GRCm39) |
N68I |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,310,557 (GRCm39) |
S932R |
probably benign |
Het |
Hk3 |
A |
T |
13: 55,158,644 (GRCm39) |
|
probably null |
Het |
Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
Jaml |
T |
C |
9: 45,000,058 (GRCm39) |
C77R |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,687,505 (GRCm39) |
N452D |
possibly damaging |
Het |
Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
Lipn |
A |
T |
19: 34,058,160 (GRCm39) |
M294L |
probably benign |
Het |
Magel2 |
A |
G |
7: 62,029,907 (GRCm39) |
E937G |
unknown |
Het |
Med13l |
G |
A |
5: 118,897,329 (GRCm39) |
|
probably null |
Het |
Mrgprb8 |
G |
A |
7: 48,038,892 (GRCm39) |
V188I |
probably benign |
Het |
Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
Ofcc1 |
C |
T |
13: 40,241,423 (GRCm39) |
R695Q |
possibly damaging |
Het |
Or11h23 |
T |
A |
14: 50,948,563 (GRCm39) |
Y259N |
probably damaging |
Het |
Or52ab7 |
G |
A |
7: 102,978,328 (GRCm39) |
V212I |
probably benign |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pak5 |
A |
T |
2: 135,939,454 (GRCm39) |
H560Q |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,480,694 (GRCm39) |
S493P |
probably damaging |
Het |
Ppp6r3 |
A |
G |
19: 3,564,719 (GRCm39) |
W185R |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,450,522 (GRCm39) |
D4189E |
probably damaging |
Het |
Serpinb9b |
A |
G |
13: 33,213,467 (GRCm39) |
N8S |
possibly damaging |
Het |
Slit3 |
A |
G |
11: 35,524,779 (GRCm39) |
T730A |
possibly damaging |
Het |
Srgap3 |
A |
T |
6: 112,806,503 (GRCm39) |
F53I |
probably damaging |
Het |
Stc2 |
T |
A |
11: 31,315,351 (GRCm39) |
K163* |
probably null |
Het |
Tasor2 |
T |
C |
13: 3,626,769 (GRCm39) |
I1060M |
probably benign |
Het |
Tlk1 |
T |
A |
2: 70,568,770 (GRCm39) |
K411* |
probably null |
Het |
Ttc27 |
G |
T |
17: 75,036,883 (GRCm39) |
L185F |
probably benign |
Het |
Vmn2r102 |
C |
T |
17: 19,880,694 (GRCm39) |
Q12* |
probably null |
Het |
Vmn2r95 |
C |
T |
17: 18,672,551 (GRCm39) |
|
probably benign |
Het |
Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
Wdr64 |
T |
A |
1: 175,638,176 (GRCm39) |
|
probably null |
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 |
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 |
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'- CGTGTATTTGGGGAACGTCCTAC -3'
(R):5'- ATTGTTGAGCAGCTCCAGC -3'
Sequencing Primer
(F):5'- TTGGGGAACGTCCTACCTTGC -3'
(R):5'- CTCAGGCTCCTTGGAGTTGACAC -3'
|
Posted On |
2018-08-29 |