Incidental Mutation 'R9775:Angptl2'
| ID |
733619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angptl2
|
| Ensembl Gene |
ENSMUSG00000004105 |
| Gene Name |
angiopoietin-like 2 |
| Synonyms |
Arp2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.257)
|
| Stock # |
R9775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
33106081-33137729 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
G to A
at 33118230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004208]
[ENSMUST00000042615]
[ENSMUST00000091039]
[ENSMUST00000113165]
[ENSMUST00000131298]
[ENSMUST00000193373]
|
| AlphaFold |
Q9R045 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004208
AA Change: M1I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: M1I
| 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 null
Transcript: ENSMUST00000193373
AA Change: M1I
|
| SMART Domains |
Protein: ENSMUSP00000142084
Gene: ENSMUSG00000004105
AA Change: M1I
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
G |
5: 113,861,765 (GRCm39) |
Q35P |
unknown |
Het |
| Bptf |
T |
C |
11: 106,934,502 (GRCm39) |
E223G |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,076,458 (GRCm39) |
I805N |
|
Het |
| Cep152 |
G |
A |
2: 125,423,660 (GRCm39) |
Q914* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,725,740 (GRCm39) |
T794A |
probably benign |
Het |
| Cntnap2 |
A |
G |
6: 47,026,261 (GRCm39) |
Y970C |
probably damaging |
Het |
| Ddx11 |
G |
T |
17: 66,445,157 (GRCm39) |
V360L |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,497,098 (GRCm39) |
V1223I |
probably benign |
Het |
| Fez2 |
A |
T |
17: 78,708,183 (GRCm39) |
I255N |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,197 (GRCm39) |
V439A |
possibly damaging |
Het |
| Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
| Kcnj9 |
T |
A |
1: 172,153,741 (GRCm39) |
I128F |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,350,393 (GRCm39) |
D146G |
probably damaging |
Het |
| Klra6 |
T |
A |
6: 129,999,639 (GRCm39) |
R110W |
probably damaging |
Het |
| Ldha |
A |
T |
7: 46,491,047 (GRCm39) |
|
probably benign |
Het |
| Lingo2 |
C |
A |
4: 35,708,781 (GRCm39) |
A400S |
probably benign |
Het |
| Lrrd1 |
A |
T |
5: 3,899,897 (GRCm39) |
R67S |
probably benign |
Het |
| Mapk6 |
C |
T |
9: 75,295,668 (GRCm39) |
C610Y |
possibly damaging |
Het |
| Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
| Myoz2 |
T |
C |
3: 122,807,399 (GRCm39) |
E137G |
probably damaging |
Het |
| Nemp2 |
T |
A |
1: 52,680,064 (GRCm39) |
I96N |
probably damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,742 (GRCm39) |
M351V |
possibly damaging |
Het |
| Nsg2 |
G |
A |
11: 32,005,029 (GRCm39) |
S77N |
possibly damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,568 (GRCm39) |
M96V |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,069 (GRCm39) |
R302S |
possibly damaging |
Het |
| Or6c5c |
T |
C |
10: 129,298,677 (GRCm39) |
I44T |
probably benign |
Het |
| Osbpl9 |
G |
A |
4: 109,013,747 (GRCm39) |
|
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,520,797 (GRCm39) |
C58Y |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,208,927 (GRCm39) |
F2480L |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,147,853 (GRCm39) |
D419E |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,323,435 (GRCm39) |
T242S |
probably benign |
Het |
| Ppp1r13b |
A |
C |
12: 111,803,457 (GRCm39) |
S254A |
possibly damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,244 (GRCm39) |
M213T |
probably benign |
Het |
| Ripk3 |
A |
G |
14: 56,023,252 (GRCm39) |
L151S |
unknown |
Het |
| Scmh1 |
A |
T |
4: 120,340,820 (GRCm39) |
M169L |
probably benign |
Het |
| Serpinb9d |
A |
T |
13: 33,382,007 (GRCm39) |
R159W |
probably damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,690,970 (GRCm39) |
R583G |
possibly damaging |
Het |
| Smim8 |
T |
C |
4: 34,769,068 (GRCm39) |
E72G |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,199,604 (GRCm39) |
N511S |
probably damaging |
Het |
| Srprb |
A |
C |
9: 103,078,490 (GRCm39) |
V80G |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,136,808 (GRCm39) |
S352N |
probably benign |
Het |
| Tbccd1 |
A |
G |
16: 22,652,666 (GRCm39) |
S152P |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,555,761 (GRCm39) |
I2822T |
possibly damaging |
Het |
| Tff1 |
A |
G |
17: 31,383,972 (GRCm39) |
V8A |
probably benign |
Het |
| Tmem132b |
T |
A |
5: 125,864,566 (GRCm39) |
S891T |
probably benign |
Het |
| Tmem200c |
T |
A |
17: 69,149,118 (GRCm39) |
V567D |
probably damaging |
Het |
| Trim3 |
G |
A |
7: 105,260,377 (GRCm39) |
T708M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,927 (GRCm39) |
N32725S |
possibly damaging |
Het |
| Ubash3b |
T |
G |
9: 40,926,214 (GRCm39) |
E633A |
possibly damaging |
Het |
| Usp4 |
A |
G |
9: 108,239,780 (GRCm39) |
R170G |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,037,406 (GRCm39) |
L1222Q |
unknown |
Het |
| Zfhx2 |
A |
G |
14: 55,304,562 (GRCm39) |
S1141P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTATGGCAGATCCCTTTTC -3'
(R):5'- CACAAATGGCACCTGTGACC -3'
Sequencing Primer
(F):5'- AGGGCCCCACTATCTATTAATATTTC -3'
(R):5'- CTGCTGGGGCACAATGAAAGTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation