Incidental Mutation 'R3028:Angpt2'
| ID |
265883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angpt2
|
| Ensembl Gene |
ENSMUSG00000031465 |
| Gene Name |
angiopoietin 2 |
| Synonyms |
Ang-2, Ang2 |
| MMRRC Submission |
040544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.825)
|
| Stock # |
R3028 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
18740279-18791578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 18753560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 289
(K289Q)
|
| 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: K289Q
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000033846
Gene: ENSMUSG00000031465
AA Change: K289Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170200
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Avl9 |
T |
A |
6: 56,707,672 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,095 (GRCm39) |
K752E |
probably benign |
Het |
| Cyp4a10 |
T |
C |
4: 115,375,628 (GRCm39) |
F37S |
possibly damaging |
Het |
| Gtpbp1 |
C |
T |
15: 79,600,080 (GRCm39) |
T369I |
possibly damaging |
Het |
| Hcrtr1 |
C |
A |
4: 130,029,604 (GRCm39) |
R159L |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,264,135 (GRCm39) |
I809V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhdc4 |
C |
T |
8: 122,526,288 (GRCm39) |
V284M |
probably damaging |
Het |
| N6amt1 |
C |
G |
16: 87,159,536 (GRCm39) |
H147Q |
probably benign |
Het |
| Pdgfra |
A |
T |
5: 75,335,642 (GRCm39) |
H425L |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,634,245 (GRCm39) |
A240V |
probably damaging |
Het |
| Ppib |
A |
T |
9: 65,973,589 (GRCm39) |
K181* |
probably null |
Het |
| Rab11fip3 |
A |
G |
17: 26,234,916 (GRCm39) |
|
probably null |
Het |
| Sftpc |
A |
T |
14: 70,758,865 (GRCm39) |
H161Q |
probably benign |
Het |
| Sigirr |
A |
G |
7: 140,672,192 (GRCm39) |
L251P |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 113,093,690 (GRCm39) |
M151K |
possibly damaging |
Het |
| Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
| Speer3 |
T |
A |
5: 13,845,445 (GRCm39) |
N159K |
probably damaging |
Het |
| Spire1 |
A |
C |
18: 67,624,417 (GRCm39) |
S581A |
probably damaging |
Het |
| Susd6 |
C |
T |
12: 80,921,234 (GRCm39) |
T277I |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCTGTGTTCTGTACTCGGC -3'
(R):5'- TGACAGCAAACATGCTTCAAG -3'
Sequencing Primer
(F):5'- TCTGTACTCGGCAATGTCAGAGC -3'
(R):5'- TCAAGATTATTGAGTCTGTCTTGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation