Incidental Mutation 'R5107:Angptl2'
| ID |
393586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angptl2
|
| Ensembl Gene |
ENSMUSG00000004105 |
| Gene Name |
angiopoietin-like 2 |
| Synonyms |
Arp2 |
| MMRRC Submission |
042695-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R5107 (G1)
|
| Quality Score |
133 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
33106081-33137729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33118615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 130
(M130L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004208]
[ENSMUST00000042615]
[ENSMUST00000091039]
[ENSMUST00000113165]
[ENSMUST00000131298]
[ENSMUST00000193373]
|
| AlphaFold |
Q9R045 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004208
AA Change: M130L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: M130L
| 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 |
|
| Meta Mutation Damage Score |
0.0832 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
98% (56/57) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 61,001,472 (GRCm39) |
N85S |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,708,977 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Agbl5 |
C |
A |
5: 31,049,822 (GRCm39) |
P257Q |
probably damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,468,198 (GRCm39) |
|
probably null |
Het |
| Ccdc78 |
G |
A |
17: 26,006,454 (GRCm39) |
V133M |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,215,821 (GRCm39) |
K145E |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,913,057 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
C |
6: 69,608,914 (GRCm39) |
I24V |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,381,302 (GRCm39) |
Y93H |
probably damaging |
Het |
| Isl2 |
T |
C |
9: 55,449,570 (GRCm39) |
V82A |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,750,340 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
A |
T |
15: 101,831,226 (GRCm39) |
M225K |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,827,673 (GRCm39) |
V484A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,267,086 (GRCm39) |
V1592E |
possibly damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,867,533 (GRCm39) |
P736L |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,795,901 (GRCm39) |
F376I |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,409,268 (GRCm39) |
H1117Q |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,223,881 (GRCm39) |
|
probably benign |
Het |
| Myod1 |
G |
T |
7: 46,027,218 (GRCm39) |
A228S |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,702,280 (GRCm39) |
T58A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,144 (GRCm39) |
T16A |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,094,893 (GRCm39) |
V559E |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,870,566 (GRCm39) |
S161P |
probably benign |
Het |
| Pias1 |
C |
A |
9: 62,789,510 (GRCm39) |
A566S |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,612,623 (GRCm39) |
|
probably benign |
Het |
| Pmp22 |
A |
G |
11: 63,049,237 (GRCm39) |
E160G |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,135,062 (GRCm39) |
|
probably null |
Het |
| Prob1 |
T |
C |
18: 35,785,989 (GRCm39) |
N755S |
possibly damaging |
Het |
| Rhou |
A |
T |
8: 124,387,912 (GRCm39) |
K215* |
probably null |
Het |
| Scaper |
A |
G |
9: 55,487,616 (GRCm39) |
S749P |
probably damaging |
Het |
| Selenop |
A |
G |
15: 3,305,075 (GRCm39) |
E77G |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,627,572 (GRCm39) |
S490* |
probably null |
Het |
| Slc26a2 |
A |
G |
18: 61,331,632 (GRCm39) |
Y600H |
probably damaging |
Het |
| Slfn8 |
A |
C |
11: 82,907,976 (GRCm39) |
I189S |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,885,752 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
G |
A |
2: 30,036,733 (GRCm39) |
E205K |
probably damaging |
Het |
| Tex47 |
C |
T |
5: 7,354,842 (GRCm39) |
R8W |
probably benign |
Het |
| Tmem198b |
T |
C |
10: 128,638,156 (GRCm39) |
T136A |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,305,705 (GRCm39) |
Q414R |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,608,496 (GRCm39) |
I16063T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,693,905 (GRCm39) |
V321A |
possibly damaging |
Het |
| Ubox5 |
A |
G |
2: 130,441,688 (GRCm39) |
L333P |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,286,602 (GRCm39) |
Y78* |
probably null |
Het |
| Wnk4 |
A |
G |
11: 101,166,364 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,054 (GRCm39) |
D765G |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,342,205 (GRCm39) |
G1482V |
probably damaging |
Het |
| Znhit1 |
A |
G |
5: 137,015,682 (GRCm39) |
V2A |
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 |
|
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'- ATTTGTGTCAACTCCAAGGAGC -3'
(R):5'- CTTCGAGCTGAGCAATGACC -3'
Sequencing Primer
(F):5'- TGTCAACTCCAAGGAGCCTGAG -3'
(R):5'- AGCTGAGCAATGACCTCTGATTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation