Incidental Mutation 'R4935:Angpt2'
| ID |
380304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angpt2
|
| Ensembl Gene |
ENSMUSG00000031465 |
| Gene Name |
angiopoietin 2 |
| Synonyms |
Ang-2, Ang2 |
| MMRRC Submission |
042535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.828)
|
| Stock # |
R4935 (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 C
at 18742131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 475
(Y475C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033846]
[ENSMUST00000039412]
[ENSMUST00000124910]
|
| AlphaFold |
O35608 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033846
AA Change: Y475C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033846
Gene: ENSMUSG00000031465
AA Change: Y475C
| 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: ENSMUST00000153133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170200
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 86.9%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
G |
11: 6,150,442 (GRCm39) |
*138W |
probably null |
Het |
| Abcb1a |
T |
A |
5: 8,787,773 (GRCm39) |
|
probably null |
Het |
| Acp6 |
T |
C |
3: 97,079,060 (GRCm39) |
|
probably null |
Het |
| Adcyap1 |
A |
T |
17: 93,511,541 (GRCm39) |
I172L |
probably benign |
Het |
| Adgrf1 |
A |
C |
17: 43,606,130 (GRCm39) |
I85L |
probably benign |
Het |
| Afdn |
A |
T |
17: 14,111,228 (GRCm39) |
T1604S |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,749,713 (GRCm39) |
S439P |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,812,033 (GRCm39) |
N366K |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,626,922 (GRCm39) |
S87P |
probably benign |
Het |
| Ano7 |
T |
A |
1: 93,323,036 (GRCm39) |
S459T |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,656,369 (GRCm39) |
V1460M |
probably benign |
Het |
| Atg16l1 |
A |
C |
1: 87,694,764 (GRCm39) |
N147T |
possibly damaging |
Het |
| Atp10a |
T |
C |
7: 58,463,512 (GRCm39) |
V1015A |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,100,401 (GRCm38) |
S696T |
probably benign |
Het |
| Babam1 |
C |
T |
8: 71,852,446 (GRCm39) |
T184I |
probably benign |
Het |
| Blk |
A |
G |
14: 63,618,711 (GRCm39) |
S175P |
possibly damaging |
Het |
| Col5a1 |
T |
A |
2: 27,914,754 (GRCm39) |
F123L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 48,024,480 (GRCm39) |
Y496C |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,615,700 (GRCm39) |
Y1676* |
probably null |
Het |
| Fdxacb1 |
T |
A |
9: 50,683,243 (GRCm39) |
M402K |
probably benign |
Het |
| Frmd5 |
A |
G |
2: 121,393,405 (GRCm39) |
V141A |
possibly damaging |
Het |
| Gapvd1 |
G |
A |
2: 34,594,504 (GRCm39) |
R685* |
probably null |
Het |
| Grik2 |
A |
G |
10: 49,116,826 (GRCm39) |
L645P |
probably damaging |
Het |
| H2aj |
T |
A |
6: 136,785,681 (GRCm39) |
V115E |
possibly damaging |
Het |
| Hrh3 |
T |
C |
2: 179,743,061 (GRCm39) |
Y189C |
probably damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,108,133 (GRCm39) |
T175A |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,300,332 (GRCm39) |
Y61C |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,939 (GRCm39) |
R645G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,899,438 (GRCm39) |
I380V |
possibly damaging |
Het |
| Lamb2 |
A |
G |
9: 108,364,700 (GRCm39) |
I1151M |
possibly damaging |
Het |
| Leo1 |
A |
G |
9: 75,353,159 (GRCm39) |
D234G |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 41,388,405 (GRCm39) |
N407H |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,831 (GRCm39) |
S732P |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,523,431 (GRCm39) |
F114I |
possibly damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,713 (GRCm39) |
N138D |
probably benign |
Het |
| Or4f17-ps1 |
G |
A |
2: 111,357,793 (GRCm39) |
V45I |
probably damaging |
Het |
| Or5b123 |
T |
C |
19: 13,597,066 (GRCm39) |
I180T |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,676,980 (GRCm39) |
V179A |
probably benign |
Het |
| Plaur |
A |
T |
7: 24,166,141 (GRCm39) |
S71C |
possibly damaging |
Het |
| Plbd2 |
T |
C |
5: 120,624,786 (GRCm39) |
N461D |
possibly damaging |
Het |
| Plcb2 |
T |
A |
2: 118,549,396 (GRCm39) |
Y322F |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,569,671 (GRCm39) |
V79A |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,197,568 (GRCm39) |
C774S |
probably damaging |
Het |
| Ring1 |
A |
C |
17: 34,242,016 (GRCm39) |
L131R |
probably benign |
Het |
| Rxfp2 |
G |
A |
5: 149,975,097 (GRCm39) |
|
probably null |
Het |
| Selenbp1 |
A |
T |
3: 94,845,269 (GRCm39) |
I122F |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,217,468 (GRCm39) |
H394R |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,864,758 (GRCm39) |
V266I |
probably damaging |
Het |
| Slc2a10 |
A |
G |
2: 165,359,578 (GRCm39) |
T481A |
probably benign |
Het |
| Spmap2l |
T |
C |
5: 77,185,200 (GRCm39) |
|
probably null |
Het |
| Tapbp |
A |
G |
17: 34,144,596 (GRCm39) |
M231V |
probably benign |
Het |
| Tbxas1 |
A |
T |
6: 38,999,981 (GRCm39) |
N256I |
probably benign |
Het |
| Uimc1 |
A |
G |
13: 55,240,998 (GRCm39) |
I30T |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,377,669 (GRCm39) |
N231K |
probably benign |
Het |
| Zfhx3 |
T |
G |
8: 109,674,482 (GRCm39) |
V1844G |
possibly damaging |
Het |
| Znrf3 |
A |
T |
11: 5,233,422 (GRCm39) |
C212S |
probably damaging |
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 |
|
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'- TTCCTGATGTGGAAAGGGGC -3'
(R):5'- CAGTACTGGGATTGCACTGGTG -3'
Sequencing Primer
(F):5'- AAAGGGGCTGCTATGCATTG -3'
(R):5'- TGGAGTAACAAATCAATGTGGCTC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation