Incidental Mutation 'R9204:Angptl2'
| ID |
698362 |
| 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 # |
R9204 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
33106081-33137729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33118342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 39
(I39F)
|
| 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: I39F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000004208
Gene: ENSMUSG00000004105
AA Change: I39F
| 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: I39F
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000142084
Gene: ENSMUSG00000004105
AA Change: I39F
| 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 |
0.0611 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,996,566 (GRCm39) |
V389A |
possibly damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,660,519 (GRCm39) |
F792S |
probably benign |
Het |
| Aprt |
A |
G |
8: 123,303,355 (GRCm39) |
I29T |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,885,816 (GRCm39) |
S464T |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,603,636 (GRCm39) |
Y151H |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,623 (GRCm39) |
T77A |
unknown |
Het |
| Boc |
C |
A |
16: 44,308,077 (GRCm39) |
C926F |
|
Het |
| Brd10 |
A |
G |
19: 29,696,938 (GRCm39) |
S852P |
possibly damaging |
Het |
| Cabin1 |
C |
T |
10: 75,530,550 (GRCm39) |
R1544Q |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,938,388 (GRCm39) |
V861A |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,904,322 (GRCm39) |
T230A |
unknown |
Het |
| Cdc42bpa |
T |
A |
1: 179,939,460 (GRCm39) |
|
probably null |
Het |
| Chrnb2 |
T |
C |
3: 89,668,128 (GRCm39) |
M396V |
probably benign |
Het |
| Chst2 |
A |
G |
9: 95,287,155 (GRCm39) |
V397A |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,126,498 (GRCm39) |
N1643K |
probably damaging |
Het |
| Ckb |
T |
A |
12: 111,637,869 (GRCm39) |
D113V |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,727,571 (GRCm39) |
M136K |
probably damaging |
Het |
| Epas1 |
G |
T |
17: 87,116,873 (GRCm39) |
R181L |
probably damaging |
Het |
| Flnc |
A |
C |
6: 29,452,353 (GRCm39) |
I1726L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,883,022 (GRCm39) |
R2518H |
probably damaging |
Het |
| Gid4 |
T |
C |
11: 60,308,654 (GRCm39) |
V58A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,610,262 (GRCm39) |
N1469I |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,278,377 (GRCm39) |
E1693G |
probably damaging |
Het |
| Irx4 |
C |
G |
13: 73,416,649 (GRCm39) |
C348W |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,387,438 (GRCm39) |
S410P |
possibly damaging |
Het |
| Lsm11 |
A |
G |
11: 45,824,789 (GRCm39) |
V246A |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,670,425 (GRCm39) |
V1489F |
probably damaging |
Het |
| Mc2r |
T |
C |
18: 68,540,667 (GRCm39) |
T209A |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,581,153 (GRCm39) |
L821P |
probably damaging |
Het |
| Mtus2 |
A |
T |
5: 148,238,293 (GRCm39) |
E1206V |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,410,129 (GRCm39) |
H1234Q |
unknown |
Het |
| Naip5 |
A |
T |
13: 100,359,008 (GRCm39) |
F743I |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,919,305 (GRCm39) |
V1318I |
probably benign |
Het |
| Or4c10b |
T |
G |
2: 89,711,482 (GRCm39) |
L104W |
probably damaging |
Het |
| Or52a24 |
A |
G |
7: 103,382,056 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or5p60 |
A |
T |
7: 107,723,935 (GRCm39) |
N178K |
possibly damaging |
Het |
| Or7g26 |
T |
C |
9: 19,229,995 (GRCm39) |
L61P |
probably damaging |
Het |
| Or8b4 |
C |
A |
9: 37,830,670 (GRCm39) |
T239K |
probably damaging |
Het |
| Or9k2b |
G |
C |
10: 130,016,566 (GRCm39) |
P61R |
probably damaging |
Het |
| Paqr5 |
G |
A |
9: 61,868,826 (GRCm39) |
R246C |
probably benign |
Het |
| Pdgfb |
T |
C |
15: 79,885,956 (GRCm39) |
Q128R |
probably damaging |
Het |
| Prr3 |
T |
A |
17: 36,285,619 (GRCm39) |
I88F |
possibly damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,301 (GRCm39) |
D433N |
probably benign |
Het |
| Scnn1b |
A |
T |
7: 121,498,522 (GRCm39) |
T21S |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,668,857 (GRCm39) |
I2V |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,940,686 (GRCm39) |
D8G |
probably benign |
Het |
| Tbc1d22a |
T |
C |
15: 86,098,803 (GRCm39) |
F10L |
probably benign |
Het |
| Tmem126a |
T |
A |
7: 90,102,026 (GRCm39) |
I58F |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,869,880 (GRCm39) |
K398E |
probably benign |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Usp53 |
G |
T |
3: 122,741,068 (GRCm39) |
N727K |
probably benign |
Het |
| Vmn2r25 |
T |
G |
6: 123,830,092 (GRCm39) |
I20L |
probably benign |
Het |
| Zfp747l1 |
T |
A |
7: 126,984,332 (GRCm39) |
I257L |
unknown |
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 |
|
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'- TGTATTTGGGGAACGTCCTAC -3'
(R):5'- CATTGTTGAGCAGCTCCAGC -3'
Sequencing Primer
(F):5'- ATGGGGCTGTCACTGACCTTATC -3'
(R):5'- CTCCTGCTTGTGCACACGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation