Incidental Mutation 'R1264:Angpt2'
| ID |
151111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angpt2
|
| Ensembl Gene |
ENSMUSG00000031465 |
| Gene Name |
angiopoietin 2 |
| Synonyms |
Ang-2, Ang2 |
| MMRRC Submission |
039331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.825)
|
| Stock # |
R1264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
18740279-18791578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18791233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 21
(N21S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033846]
[ENSMUST00000039412]
|
| AlphaFold |
O35608 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033846
AA Change: N21S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000033846
Gene: ENSMUSG00000031465
AA Change: N21S
| 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 |
|
| Meta Mutation Damage Score |
0.0626 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,592,103 (GRCm39) |
|
probably benign |
Het |
| Acadl |
A |
T |
1: 66,896,712 (GRCm39) |
C27S |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,598,931 (GRCm39) |
G258E |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,299,962 (GRCm39) |
|
probably null |
Het |
| Ano6 |
A |
G |
15: 95,847,447 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,518,615 (GRCm39) |
|
probably benign |
Het |
| Clec10a |
T |
A |
11: 70,060,567 (GRCm39) |
S103T |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,339,662 (GRCm39) |
R770G |
probably benign |
Het |
| Cndp2 |
C |
A |
18: 84,696,916 (GRCm39) |
C95F |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
| Col4a3 |
A |
T |
1: 82,621,022 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,022,085 (GRCm39) |
|
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,953,484 (GRCm39) |
V18A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,439,491 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,221,675 (GRCm39) |
D715G |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,379 (GRCm39) |
K425E |
unknown |
Het |
| Kif13b |
T |
C |
14: 65,013,681 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
T |
A |
17: 88,014,607 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,071,604 (GRCm39) |
N474D |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,978,185 (GRCm39) |
T1246A |
probably benign |
Het |
| Nob1 |
T |
C |
8: 108,148,136 (GRCm39) |
H102R |
probably damaging |
Het |
| Or4z4 |
G |
T |
19: 12,076,198 (GRCm39) |
D268E |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,203,316 (GRCm39) |
I415F |
probably damaging |
Het |
| Pfkl |
T |
G |
10: 77,829,250 (GRCm39) |
K386T |
possibly damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,474,195 (GRCm39) |
V447A |
probably benign |
Het |
| Poli |
C |
T |
18: 70,650,574 (GRCm39) |
V266I |
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 71,861,449 (GRCm39) |
K46N |
possibly damaging |
Het |
| Shisa6 |
T |
C |
11: 66,265,975 (GRCm39) |
|
probably benign |
Het |
| Six3 |
T |
A |
17: 85,929,285 (GRCm39) |
D206E |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,060,158 (GRCm39) |
E944D |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,381 (GRCm39) |
F1173S |
probably damaging |
Het |
| Tfdp1 |
C |
A |
8: 13,423,837 (GRCm39) |
|
probably benign |
Het |
| Trrap |
A |
G |
5: 144,726,409 (GRCm39) |
|
probably benign |
Het |
| Wbp11 |
A |
G |
6: 136,791,513 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTTCTTGCTCACCAGAGCCAGC -3'
(R):5'- ACTGATGGACTTATTCACACGGCAC -3'
Sequencing Primer
(F):5'- ATCAGCCACTGTGTGTTGTTC -3'
(R):5'- ACAGCCCTGTGCCTTAGAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation