Incidental Mutation 'IGL01298:Angpt2'
ID |
73203 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Angpt2
|
Ensembl Gene |
ENSMUSG00000031465 |
Gene Name |
angiopoietin 2 |
Synonyms |
Ang-2, Ang2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.828)
|
Stock # |
IGL01298
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
18740279-18791578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 18760544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 186
(N186T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033846]
[ENSMUST00000039412]
[ENSMUST00000124910]
|
AlphaFold |
O35608 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033846
AA Change: N186T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000033846 Gene: ENSMUSG00000031465 AA Change: N186T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
coiled coil region
|
166 |
248 |
N/A |
INTRINSIC |
FBG
|
279 |
494 |
9.43e-129 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000039412
|
SMART Domains |
Protein: ENSMUSP00000037000 Gene: ENSMUSG00000039842
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
coiled coil region
|
128 |
155 |
N/A |
INTRINSIC |
Pfam:Microcephalin
|
224 |
597 |
1.2e-143 |
PFAM |
BRCT
|
624 |
707 |
2.23e-2 |
SMART |
BRCT
|
740 |
810 |
1.55e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124910
|
SMART Domains |
Protein: ENSMUSP00000131698 Gene: ENSMUSG00000039842
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes an endothelial cell (EC)-derived regulator of angiogenesis and ligand for endothelial-specific receptor tyrosine kinase. The encoded protein acts as an anti-apoptotic factor for stressed ECs and a proapoptotic factor for resting ECs. [provided by RefSeq, Jan 2013] PHENOTYPE: Homozygous inactivation of this gene results in impaired angiogenesis, abnormal lymphatic development and function, and ultimately postnatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora2a |
G |
T |
10: 75,169,326 (GRCm39) |
W263C |
probably damaging |
Het |
Agtpbp1 |
G |
A |
13: 59,652,040 (GRCm39) |
H424Y |
possibly damaging |
Het |
Ank2 |
A |
G |
3: 126,753,369 (GRCm39) |
V304A |
possibly damaging |
Het |
Atg3 |
T |
C |
16: 44,992,036 (GRCm39) |
M88T |
possibly damaging |
Het |
Baz1a |
G |
T |
12: 55,001,594 (GRCm39) |
P142Q |
probably damaging |
Het |
Btbd1 |
G |
T |
7: 81,444,055 (GRCm39) |
|
probably null |
Het |
Cacnb3 |
T |
C |
15: 98,537,734 (GRCm39) |
Y70H |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cyp7a1 |
A |
T |
4: 6,275,517 (GRCm39) |
W19R |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
Gm11444 |
C |
A |
11: 85,738,920 (GRCm39) |
D58Y |
unknown |
Het |
Gm7168 |
A |
T |
17: 14,170,120 (GRCm39) |
T496S |
probably benign |
Het |
Gpc5 |
A |
G |
14: 115,636,600 (GRCm39) |
S428G |
probably benign |
Het |
Haus8 |
T |
C |
8: 71,705,757 (GRCm39) |
E309G |
probably damaging |
Het |
Ice1 |
A |
G |
13: 70,753,023 (GRCm39) |
L1021P |
possibly damaging |
Het |
Krtap14 |
A |
T |
16: 88,622,615 (GRCm39) |
H121Q |
probably benign |
Het |
Nwd1 |
T |
C |
8: 73,388,959 (GRCm39) |
V170A |
probably benign |
Het |
Or1j10 |
T |
A |
2: 36,267,460 (GRCm39) |
M224K |
probably benign |
Het |
Or6c3b |
T |
C |
10: 129,527,898 (GRCm39) |
Y4C |
probably damaging |
Het |
Or8g24 |
G |
A |
9: 38,990,020 (GRCm39) |
T7I |
possibly damaging |
Het |
Pfpl |
T |
C |
19: 12,406,037 (GRCm39) |
M96T |
possibly damaging |
Het |
Pramel5 |
A |
G |
4: 143,997,732 (GRCm39) |
|
probably benign |
Het |
Proc |
T |
C |
18: 32,256,605 (GRCm39) |
N354S |
probably benign |
Het |
Prss40 |
T |
G |
1: 34,599,847 (GRCm39) |
I47L |
probably benign |
Het |
Tmprss7 |
T |
C |
16: 45,484,538 (GRCm39) |
R541G |
probably benign |
Het |
Togaram2 |
T |
C |
17: 72,023,508 (GRCm39) |
V788A |
possibly damaging |
Het |
Trbv19 |
T |
C |
6: 41,155,838 (GRCm39) |
Y70H |
probably damaging |
Het |
Ttk |
C |
T |
9: 83,747,195 (GRCm39) |
S678L |
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
|
Other mutations in Angpt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01449:Angpt2
|
APN |
8 |
18,760,641 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03088:Angpt2
|
APN |
8 |
18,791,039 (GRCm39) |
missense |
probably benign |
0.09 |
P0037:Angpt2
|
UTSW |
8 |
18,764,259 (GRCm39) |
unclassified |
probably benign |
|
R0308:Angpt2
|
UTSW |
8 |
18,742,141 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1099:Angpt2
|
UTSW |
8 |
18,749,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R1113:Angpt2
|
UTSW |
8 |
18,742,134 (GRCm39) |
nonsense |
probably null |
|
R1264:Angpt2
|
UTSW |
8 |
18,791,233 (GRCm39) |
missense |
probably benign |
0.00 |
R1308:Angpt2
|
UTSW |
8 |
18,742,134 (GRCm39) |
nonsense |
probably null |
|
R1518:Angpt2
|
UTSW |
8 |
18,755,855 (GRCm39) |
missense |
probably benign |
0.00 |
R1595:Angpt2
|
UTSW |
8 |
18,748,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R2016:Angpt2
|
UTSW |
8 |
18,755,747 (GRCm39) |
missense |
probably damaging |
0.96 |
R2017:Angpt2
|
UTSW |
8 |
18,755,747 (GRCm39) |
missense |
probably damaging |
0.96 |
R2050:Angpt2
|
UTSW |
8 |
18,755,673 (GRCm39) |
missense |
probably benign |
|
R2142:Angpt2
|
UTSW |
8 |
18,764,156 (GRCm39) |
missense |
probably benign |
0.39 |
R2184:Angpt2
|
UTSW |
8 |
18,742,132 (GRCm39) |
missense |
probably benign |
0.00 |
R3028:Angpt2
|
UTSW |
8 |
18,753,560 (GRCm39) |
missense |
probably benign |
0.01 |
R4096:Angpt2
|
UTSW |
8 |
18,748,111 (GRCm39) |
missense |
probably damaging |
0.97 |
R4112:Angpt2
|
UTSW |
8 |
18,749,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R4738:Angpt2
|
UTSW |
8 |
18,791,075 (GRCm39) |
missense |
probably benign |
0.07 |
R4790:Angpt2
|
UTSW |
8 |
18,764,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R4935:Angpt2
|
UTSW |
8 |
18,742,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Angpt2
|
UTSW |
8 |
18,748,132 (GRCm39) |
missense |
probably benign |
0.00 |
R6499:Angpt2
|
UTSW |
8 |
18,744,533 (GRCm39) |
missense |
probably benign |
|
R6938:Angpt2
|
UTSW |
8 |
18,748,105 (GRCm39) |
nonsense |
probably null |
|
R7211:Angpt2
|
UTSW |
8 |
18,791,147 (GRCm39) |
missense |
probably benign |
|
R7323:Angpt2
|
UTSW |
8 |
18,755,840 (GRCm39) |
missense |
probably benign |
0.13 |
R7349:Angpt2
|
UTSW |
8 |
18,742,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R7746:Angpt2
|
UTSW |
8 |
18,742,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R7812:Angpt2
|
UTSW |
8 |
18,742,161 (GRCm39) |
missense |
probably benign |
0.43 |
R8346:Angpt2
|
UTSW |
8 |
18,791,135 (GRCm39) |
nonsense |
probably null |
|
R8348:Angpt2
|
UTSW |
8 |
18,791,135 (GRCm39) |
nonsense |
probably null |
|
R8508:Angpt2
|
UTSW |
8 |
18,791,135 (GRCm39) |
nonsense |
probably null |
|
R8509:Angpt2
|
UTSW |
8 |
18,791,135 (GRCm39) |
nonsense |
probably null |
|
R9138:Angpt2
|
UTSW |
8 |
18,764,162 (GRCm39) |
missense |
probably benign |
0.06 |
R9182:Angpt2
|
UTSW |
8 |
18,760,658 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9211:Angpt2
|
UTSW |
8 |
18,748,078 (GRCm39) |
missense |
probably benign |
0.01 |
R9309:Angpt2
|
UTSW |
8 |
18,749,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R9476:Angpt2
|
UTSW |
8 |
18,764,143 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2013-10-07 |