Incidental Mutation 'R8509:Angpt2'
| ID |
655761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Angpt2
|
| Ensembl Gene |
ENSMUSG00000031465 |
| Gene Name |
angiopoietin 2 |
| Synonyms |
Ang-2, Ang2 |
| MMRRC Submission |
067944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.828)
|
| Stock # |
R8509 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
18740279-18791578 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 18791135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 54
(R54*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033846]
[ENSMUST00000039412]
|
| AlphaFold |
O35608 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033846
AA Change: R54*
|
| SMART Domains |
Protein: ENSMUSP00000033846
Gene: ENSMUSG00000031465
AA Change: R54*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
C |
7: 115,703,669 (GRCm39) |
S181P |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,496,180 (GRCm39) |
E858G |
possibly damaging |
Het |
| Asrgl1 |
T |
C |
19: 9,091,590 (GRCm39) |
K244E |
probably damaging |
Het |
| BC048679 |
T |
A |
7: 81,145,116 (GRCm39) |
T82S |
probably benign |
Het |
| Brip1 |
A |
T |
11: 86,088,774 (GRCm39) |
C42* |
probably null |
Het |
| Cabcoco1 |
T |
C |
10: 68,267,119 (GRCm39) |
E296G |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,714 (GRCm39) |
N116S |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,695,876 (GRCm39) |
E214G |
probably benign |
Het |
| Cyp11b1 |
A |
G |
15: 74,711,202 (GRCm39) |
F159L |
possibly damaging |
Het |
| Dmxl2 |
C |
A |
9: 54,335,341 (GRCm39) |
E660* |
probably null |
Het |
| Dnah14 |
C |
T |
1: 181,642,220 (GRCm39) |
T112M |
|
Het |
| Fancd2 |
A |
G |
6: 113,549,531 (GRCm39) |
T74A |
probably benign |
Het |
| Fat4 |
G |
T |
3: 39,036,052 (GRCm39) |
V3235L |
probably benign |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gmcl1 |
A |
C |
6: 86,699,589 (GRCm39) |
I146S |
probably damaging |
Het |
| Hbb-bs |
T |
A |
7: 103,475,919 (GRCm39) |
K133* |
probably null |
Het |
| Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,449,302 (GRCm39) |
K5446* |
probably null |
Het |
| Hyal6 |
A |
T |
6: 24,734,605 (GRCm39) |
E179D |
probably damaging |
Het |
| Inpp5b |
T |
A |
4: 124,637,698 (GRCm39) |
|
probably null |
Het |
| Lrba |
A |
G |
3: 86,255,483 (GRCm39) |
K942E |
probably benign |
Het |
| Lrrcc1 |
A |
G |
3: 14,601,567 (GRCm39) |
N110S |
probably damaging |
Het |
| Mcoln3 |
A |
G |
3: 145,830,647 (GRCm39) |
I126V |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,572,048 (GRCm39) |
I242V |
probably benign |
Het |
| Ndufb4 |
A |
G |
16: 37,469,506 (GRCm39) |
I66T |
probably benign |
Het |
| Npffr2 |
T |
C |
5: 89,731,188 (GRCm39) |
S373P |
possibly damaging |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,931,866 (GRCm39) |
Y155C |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,172,008 (GRCm39) |
I579N |
|
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ripk2 |
T |
C |
4: 16,124,436 (GRCm39) |
E424G |
probably benign |
Het |
| Rnf19b |
T |
A |
4: 128,967,369 (GRCm39) |
C304S |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,248,064 (GRCm39) |
W46R |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,592,664 (GRCm39) |
|
probably null |
Het |
| Sbf1 |
A |
T |
15: 89,177,660 (GRCm39) |
D1674E |
probably damaging |
Het |
| Sgf29 |
T |
A |
7: 126,270,834 (GRCm39) |
|
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,585,339 (GRCm39) |
|
probably null |
Het |
| Smg6 |
T |
C |
11: 74,932,702 (GRCm39) |
S998P |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,126,950 (GRCm39) |
V2020A |
probably benign |
Het |
| Srgap3 |
G |
A |
6: 112,708,297 (GRCm39) |
Q801* |
probably null |
Het |
| Taf4b |
A |
G |
18: 15,031,112 (GRCm39) |
D832G |
probably damaging |
Het |
| Trim12a |
T |
C |
7: 103,955,234 (GRCm39) |
D163G |
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,153,020 (GRCm39) |
|
probably null |
Het |
| Trpm4 |
A |
G |
7: 44,971,785 (GRCm39) |
V274A |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,680,788 (GRCm39) |
D2128G |
possibly 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 |
|
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 |
|
|
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'- GGCTATTAGTTCTTGCTCACCAG -3'
(R):5'- CCTTAGACAGCAGCTGAGAG -3'
Sequencing Primer
(F):5'- GAGCCAGCCCACCTTCCTAC -3'
(R):5'- TTGCTGAACTCACAGTTTAGAACCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation