Incidental Mutation 'R5053:Acvrl1'
| ID |
394774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acvrl1
|
| Ensembl Gene |
ENSMUSG00000000530 |
| Gene Name |
activin A receptor, type II-like 1 |
| Synonyms |
activin receptor-like kinase-1, Alk-1, Acvrlk1, Alk1 |
| MMRRC Submission |
042643-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5053 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101026403-101043217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101035250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 259
(I259F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000542]
[ENSMUST00000117984]
[ENSMUST00000119063]
[ENSMUST00000120028]
[ENSMUST00000120754]
[ENSMUST00000121718]
[ENSMUST00000124151]
[ENSMUST00000144229]
[ENSMUST00000130432]
|
| AlphaFold |
Q61288 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000542
AA Change: I259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: I259F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117984
AA Change: I259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: I259F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LCR|A
|
19 |
116 |
4e-43 |
PDB |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119063
AA Change: I259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: I259F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120028
AA Change: I259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: I259F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120754
AA Change: I259F
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: I259F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121718
AA Change: I259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: I259F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
31 |
102 |
2.1e-10 |
PFAM |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
5.72e-14 |
SMART |
|
Blast:TyrKc
|
207 |
478 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124151
|
| SMART Domains |
Protein: ENSMUSP00000114829
Gene: ENSMUSG00000000530
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LCR|A
|
19 |
76 |
8e-25 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144229
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130432
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene die at midgestation with severe vascular abnormalities, including fusion of major arteries and veins. Mice heterozygous for one targeted mutation provide a suitable model for hereditary hemorrhagic telangiectasia type 2. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,844,651 (GRCm39) |
C180R |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,614,349 (GRCm39) |
I448T |
possibly damaging |
Het |
| Alg9 |
G |
T |
9: 50,699,472 (GRCm39) |
G200W |
probably damaging |
Het |
| Amhr2 |
G |
A |
15: 102,355,693 (GRCm39) |
V213I |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,774,248 (GRCm39) |
L200* |
probably null |
Het |
| As3mt |
A |
G |
19: 46,697,493 (GRCm39) |
Y87C |
probably damaging |
Het |
| Bcl11a |
C |
A |
11: 24,114,068 (GRCm39) |
F470L |
probably benign |
Het |
| Cacna2d2 |
A |
T |
9: 107,392,063 (GRCm39) |
Y468F |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,804,848 (GRCm39) |
D71G |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,616,882 (GRCm39) |
T923A |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,394,461 (GRCm39) |
L273P |
probably damaging |
Het |
| Comtd1 |
T |
C |
14: 21,897,764 (GRCm39) |
D123G |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,623,271 (GRCm39) |
E144V |
probably damaging |
Het |
| Cyp2c37 |
G |
A |
19: 39,990,331 (GRCm39) |
S343N |
probably benign |
Het |
| Dennd6a |
C |
A |
14: 26,329,738 (GRCm39) |
T103K |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,016,093 (GRCm39) |
L733P |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,325,393 (GRCm39) |
H11L |
probably benign |
Het |
| Ero1b |
T |
C |
13: 12,614,795 (GRCm39) |
L253P |
probably damaging |
Het |
| Etfbkmt |
T |
A |
6: 149,048,766 (GRCm39) |
L135* |
probably null |
Het |
| Frmd4a |
A |
T |
2: 4,608,732 (GRCm39) |
T867S |
probably damaging |
Het |
| Gm815 |
C |
T |
19: 26,863,813 (GRCm39) |
A18V |
unknown |
Het |
| Gna12 |
C |
A |
5: 140,746,482 (GRCm39) |
R321L |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Irs1 |
A |
G |
1: 82,264,643 (GRCm39) |
L1191P |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,496,957 (GRCm39) |
Q551K |
probably benign |
Het |
| Klhl11 |
C |
T |
11: 100,363,026 (GRCm39) |
V177M |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Llcfc1 |
A |
G |
6: 41,662,269 (GRCm39) |
H91R |
possibly damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,740,489 (GRCm39) |
M223K |
probably damaging |
Het |
| Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,272,270 (GRCm39) |
V623E |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,231,415 (GRCm39) |
S119P |
probably damaging |
Het |
| Nfs1 |
A |
C |
2: 155,968,318 (GRCm39) |
C383G |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,628,919 (GRCm39) |
|
probably null |
Het |
| Oca2 |
C |
A |
7: 55,973,328 (GRCm39) |
Q411K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,654,741 (GRCm39) |
H184R |
probably benign |
Het |
| Or11h23 |
T |
A |
14: 50,947,968 (GRCm39) |
Y60* |
probably null |
Het |
| Or1ad1 |
G |
A |
11: 50,876,137 (GRCm39) |
G203D |
probably damaging |
Het |
| Or4c15 |
C |
A |
2: 88,760,597 (GRCm39) |
V21F |
probably benign |
Het |
| Or8k25 |
A |
G |
2: 86,243,682 (GRCm39) |
F238S |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,943 (GRCm39) |
T493S |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,115,782 (GRCm39) |
S368P |
probably benign |
Het |
| Pla2g2e |
T |
G |
4: 138,607,686 (GRCm39) |
V22G |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,299,442 (GRCm39) |
H1736Q |
probably damaging |
Het |
| Prlr |
C |
A |
15: 10,325,471 (GRCm39) |
Q215K |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,291,246 (GRCm39) |
V687A |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,399,063 (GRCm39) |
T1951S |
probably damaging |
Het |
| Sec31a |
G |
T |
5: 100,541,073 (GRCm39) |
Q345K |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,309,473 (GRCm39) |
|
probably null |
Het |
| Sertad3 |
T |
A |
7: 27,175,947 (GRCm39) |
V127E |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,632,220 (GRCm39) |
L202P |
probably damaging |
Het |
| Sp8 |
C |
T |
12: 118,813,339 (GRCm39) |
T398M |
probably damaging |
Het |
| Tmem150c |
A |
T |
5: 100,231,599 (GRCm39) |
D125E |
probably benign |
Het |
| Trim3 |
G |
T |
7: 105,266,968 (GRCm39) |
D470E |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,387,315 (GRCm39) |
C88* |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,071,007 (GRCm39) |
D1124E |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,037,550 (GRCm39) |
S677P |
probably benign |
Het |
| Vmn1r76 |
T |
C |
7: 11,664,241 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
C |
T |
7: 43,266,570 (GRCm39) |
T275I |
probably damaging |
Het |
| Zranb2 |
T |
A |
3: 157,246,796 (GRCm39) |
D161E |
probably damaging |
Het |
|
| Other mutations in Acvrl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Acvrl1
|
APN |
15 |
101,041,221 (GRCm39) |
splice site |
probably null |
|
|
IGL00780:Acvrl1
|
APN |
15 |
101,035,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01714:Acvrl1
|
APN |
15 |
101,035,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02962:Acvrl1
|
APN |
15 |
101,033,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03268:Acvrl1
|
APN |
15 |
101,033,803 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03341:Acvrl1
|
APN |
15 |
101,035,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0256:Acvrl1
|
UTSW |
15 |
101,035,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Acvrl1
|
UTSW |
15 |
101,034,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1666:Acvrl1
|
UTSW |
15 |
101,035,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2402:Acvrl1
|
UTSW |
15 |
101,035,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Acvrl1
|
UTSW |
15 |
101,035,350 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4720:Acvrl1
|
UTSW |
15 |
101,033,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Acvrl1
|
UTSW |
15 |
101,033,409 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4995:Acvrl1
|
UTSW |
15 |
101,033,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5093:Acvrl1
|
UTSW |
15 |
101,032,628 (GRCm39) |
splice site |
probably null |
|
|
R5191:Acvrl1
|
UTSW |
15 |
101,034,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6981:Acvrl1
|
UTSW |
15 |
101,036,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Acvrl1
|
UTSW |
15 |
101,041,245 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7231:Acvrl1
|
UTSW |
15 |
101,034,104 (GRCm39) |
nonsense |
probably null |
|
|
R7326:Acvrl1
|
UTSW |
15 |
101,038,953 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7555:Acvrl1
|
UTSW |
15 |
101,041,354 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7569:Acvrl1
|
UTSW |
15 |
101,033,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7627:Acvrl1
|
UTSW |
15 |
101,033,747 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8971:Acvrl1
|
UTSW |
15 |
101,033,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9038:Acvrl1
|
UTSW |
15 |
101,039,011 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9108:Acvrl1
|
UTSW |
15 |
101,039,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:Acvrl1
|
UTSW |
15 |
101,034,924 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACATGTCTGCTATTCTAGGC -3'
(R):5'- ATCTCCACATGTAGGTGCGC -3'
Sequencing Primer
(F):5'- ACATGTCTGCTATTCTAGGCCTAGG -3'
(R):5'- ACATGTAGGTGCGCCAGGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation