Incidental Mutation 'R6938:Angpt2'
ID |
540385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Angpt2
|
Ensembl Gene |
ENSMUSG00000031465 |
Gene Name |
angiopoietin 2 |
Synonyms |
Ang-2, Ang2 |
MMRRC Submission |
045052-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.828)
|
Stock # |
R6938 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
18740279-18791578 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 18748105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 385
(S385*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033846]
[ENSMUST00000039412]
[ENSMUST00000124910]
|
AlphaFold |
O35608 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033846
AA Change: S385*
|
SMART Domains |
Protein: ENSMUSP00000033846 Gene: ENSMUSG00000031465 AA Change: S385*
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
T |
C |
4: 152,302,351 (GRCm39) |
|
probably null |
Het |
Acp6 |
T |
C |
3: 97,082,949 (GRCm39) |
M320T |
probably benign |
Het |
Adam22 |
A |
T |
5: 8,196,499 (GRCm39) |
Y259N |
probably benign |
Het |
Akap9 |
C |
A |
5: 4,096,628 (GRCm39) |
A2501D |
possibly damaging |
Het |
Asxl2 |
G |
C |
12: 3,526,149 (GRCm39) |
R255T |
probably damaging |
Het |
Btg3 |
T |
C |
16: 78,157,216 (GRCm39) |
I244V |
probably benign |
Het |
Casr |
T |
C |
16: 36,316,283 (GRCm39) |
T596A |
probably damaging |
Het |
Ccl1 |
A |
T |
11: 82,067,684 (GRCm39) |
V82D |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,948,333 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,873,379 (GRCm39) |
D1243G |
probably benign |
Het |
Dnaaf9 |
A |
C |
2: 130,617,673 (GRCm39) |
H297Q |
probably benign |
Het |
Drc3 |
A |
T |
11: 60,284,949 (GRCm39) |
|
probably null |
Het |
Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Gbp4 |
T |
C |
5: 105,282,943 (GRCm39) |
D109G |
probably damaging |
Het |
Gstz1 |
A |
G |
12: 87,193,943 (GRCm39) |
|
probably null |
Het |
Kctd10 |
C |
A |
5: 114,508,191 (GRCm39) |
E106* |
probably null |
Het |
Kctd20 |
G |
A |
17: 29,180,555 (GRCm39) |
G110S |
probably benign |
Het |
Klk1b26 |
A |
T |
7: 43,665,718 (GRCm39) |
T177S |
probably benign |
Het |
Kyat3 |
T |
A |
3: 142,431,183 (GRCm39) |
V118E |
probably damaging |
Het |
Maml3 |
T |
C |
3: 52,011,159 (GRCm39) |
K136E |
probably damaging |
Het |
Mex3d |
T |
C |
10: 80,218,074 (GRCm39) |
N381S |
possibly damaging |
Het |
Mmrn2 |
A |
T |
14: 34,120,671 (GRCm39) |
T514S |
probably benign |
Het |
Nlrp1b |
G |
A |
11: 71,109,042 (GRCm39) |
A153V |
probably damaging |
Het |
Or13e8 |
C |
T |
4: 43,696,286 (GRCm39) |
V296M |
probably damaging |
Het |
Pcolce |
T |
C |
5: 137,603,878 (GRCm39) |
T365A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,593,985 (GRCm39) |
I377V |
probably benign |
Het |
Plk2 |
T |
A |
13: 110,533,214 (GRCm39) |
Y192* |
probably null |
Het |
Rev3l |
T |
A |
10: 39,738,706 (GRCm39) |
V2820D |
probably damaging |
Het |
Secisbp2l |
G |
T |
2: 125,592,272 (GRCm39) |
P650T |
probably damaging |
Het |
Slc9a5 |
T |
C |
8: 106,080,064 (GRCm39) |
L69P |
probably damaging |
Het |
Sp9 |
T |
C |
2: 73,103,616 (GRCm39) |
C57R |
probably damaging |
Het |
Tbl3 |
A |
T |
17: 24,924,187 (GRCm39) |
V190D |
possibly damaging |
Het |
Timm8b |
A |
G |
9: 50,516,294 (GRCm39) |
D49G |
possibly damaging |
Het |
Tmem231 |
T |
C |
8: 112,660,144 (GRCm39) |
S53G |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,205,753 (GRCm39) |
V797D |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,803,886 (GRCm39) |
D1665E |
probably damaging |
Het |
Txk |
C |
A |
5: 72,856,492 (GRCm39) |
R433L |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,992 (GRCm39) |
S182P |
possibly damaging |
Het |
Vps13b |
T |
G |
15: 35,423,344 (GRCm39) |
I221M |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,903,464 (GRCm39) |
N1082D |
probably benign |
Het |
|
Other mutations in Angpt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01298:Angpt2
|
APN |
8 |
18,760,544 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGTCTGTCTCAGTGATC -3'
(R):5'- TAAGGTGATGGATTCCAAACACAAG -3'
Sequencing Primer
(F):5'- TCTTGACCATGCTAGGCAAG -3'
(R):5'- GATGGATTCCAAACACAAGAACAAAC -3'
|
Posted On |
2018-11-06 |