Incidental Mutation 'R5504:Angptl2'
ID |
430807 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Angptl2
|
Ensembl Gene |
ENSMUSG00000004105 |
Gene Name |
angiopoietin-like 2 |
Synonyms |
Arp2 |
MMRRC Submission |
043065-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.257)
|
Stock # |
R5504 (G1)
|
Quality Score |
206 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
33106081-33137729 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 33119050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000004208 Gene: ENSMUSG00000004105
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 |
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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
Validation Efficiency |
99% (69/70) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
C |
T |
8: 44,078,319 (GRCm39) |
C635Y |
probably damaging |
Het |
Akr1b7 |
A |
G |
6: 34,396,453 (GRCm39) |
|
probably null |
Het |
Amy2a1 |
T |
G |
3: 113,325,318 (GRCm39) |
D92A |
probably benign |
Het |
Angel2 |
A |
G |
1: 190,676,083 (GRCm39) |
T455A |
probably damaging |
Het |
Ankrd40 |
A |
G |
11: 94,219,153 (GRCm39) |
E25G |
probably benign |
Het |
Asb18 |
T |
A |
1: 89,920,746 (GRCm39) |
D136V |
probably damaging |
Het |
Asphd1 |
T |
C |
7: 126,545,350 (GRCm39) |
I336V |
possibly damaging |
Het |
Birc6 |
C |
T |
17: 74,962,208 (GRCm39) |
P58S |
probably damaging |
Het |
Bsx |
A |
T |
9: 40,785,460 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,488,843 (GRCm39) |
L1965P |
probably benign |
Het |
Capza3 |
A |
T |
6: 139,988,165 (GRCm39) |
I255L |
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,575,192 (GRCm39) |
A499E |
probably damaging |
Het |
Cfhr4 |
A |
T |
1: 139,629,558 (GRCm39) |
S749T |
probably benign |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Colgalt2 |
G |
A |
1: 152,276,054 (GRCm39) |
V56M |
possibly damaging |
Het |
Dennd1b |
A |
T |
1: 139,018,246 (GRCm39) |
T197S |
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,914,278 (GRCm39) |
Y1000H |
probably benign |
Het |
Dlg2 |
C |
T |
7: 92,091,865 (GRCm39) |
A910V |
probably damaging |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dock5 |
T |
C |
14: 68,040,535 (GRCm39) |
D884G |
probably benign |
Het |
Fhad1 |
A |
G |
4: 141,712,846 (GRCm39) |
S198P |
probably benign |
Het |
Gabpa |
T |
C |
16: 84,649,446 (GRCm39) |
S218P |
probably benign |
Het |
Gm17654 |
A |
T |
14: 43,815,494 (GRCm39) |
N104K |
unknown |
Het |
Gm4775 |
T |
C |
14: 106,338,389 (GRCm39) |
|
noncoding transcript |
Het |
Gvin3 |
T |
A |
7: 106,201,951 (GRCm39) |
|
noncoding transcript |
Het |
Heatr1 |
T |
A |
13: 12,421,500 (GRCm39) |
S467T |
possibly damaging |
Het |
Hecw1 |
A |
G |
13: 14,515,487 (GRCm39) |
M215T |
probably benign |
Het |
Hmgn2 |
A |
T |
4: 133,694,114 (GRCm39) |
|
probably benign |
Het |
Kncn |
T |
A |
4: 115,742,062 (GRCm39) |
I43N |
possibly damaging |
Het |
Lgals3bp |
G |
T |
11: 118,284,811 (GRCm39) |
T256N |
probably benign |
Het |
Mpi |
T |
C |
9: 57,452,500 (GRCm39) |
D344G |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,178,879 (GRCm39) |
E1304K |
probably damaging |
Het |
Npat |
T |
A |
9: 53,481,564 (GRCm39) |
F1091I |
probably benign |
Het |
Nrcam |
T |
G |
12: 44,610,915 (GRCm39) |
|
probably null |
Het |
Or2a7 |
T |
A |
6: 43,151,572 (GRCm39) |
Y217* |
probably null |
Het |
Or4c114 |
C |
T |
2: 88,905,024 (GRCm39) |
R137Q |
probably benign |
Het |
Or56a4 |
T |
C |
7: 104,806,383 (GRCm39) |
K169E |
probably benign |
Het |
Pappa2 |
A |
G |
1: 158,675,615 (GRCm39) |
S1044P |
probably benign |
Het |
Pcnx4 |
T |
C |
12: 72,621,222 (GRCm39) |
L1014S |
probably damaging |
Het |
Pear1 |
G |
A |
3: 87,660,002 (GRCm39) |
|
probably benign |
Het |
Piwil2 |
T |
A |
14: 70,627,348 (GRCm39) |
Y797F |
probably benign |
Het |
Ppp2r1b |
T |
G |
9: 50,770,187 (GRCm39) |
L81R |
probably damaging |
Het |
Pxdn |
C |
A |
12: 30,052,800 (GRCm39) |
H812Q |
probably damaging |
Het |
Rad21l |
A |
T |
2: 151,510,357 (GRCm39) |
F33I |
probably damaging |
Het |
Rgs13 |
A |
T |
1: 144,015,358 (GRCm39) |
C120S |
possibly damaging |
Het |
Rp1 |
G |
A |
1: 4,420,113 (GRCm39) |
T333M |
probably damaging |
Het |
Sema6d |
T |
A |
2: 124,499,941 (GRCm39) |
V339E |
probably damaging |
Het |
Serpina3i |
T |
A |
12: 104,232,862 (GRCm39) |
Y256N |
probably damaging |
Het |
Slc13a1 |
A |
T |
6: 24,150,743 (GRCm39) |
M65K |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,349,064 (GRCm39) |
K45R |
probably damaging |
Het |
Src |
T |
C |
2: 157,306,641 (GRCm39) |
Y215H |
probably damaging |
Het |
Synj2 |
T |
C |
17: 6,086,750 (GRCm39) |
V384A |
possibly damaging |
Het |
Tmeff1 |
T |
C |
4: 48,650,396 (GRCm39) |
S285P |
probably damaging |
Het |
Vmn2r125 |
A |
G |
4: 156,703,456 (GRCm39) |
D278G |
possibly damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,486,176 (GRCm39) |
K371E |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,218,341 (GRCm39) |
H426Q |
probably benign |
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 |
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'- GAGGTCATTGCTCAGCTCGAAG -3'
(R):5'- CTTATTGGAGCAATGCCATCCC -3'
Sequencing Primer
(F):5'- ACTGCCAACGCGTACCTG -3'
(R):5'- GAGCAATGCCATCCCTTGCTC -3'
|
Posted On |
2016-10-05 |