Incidental Mutation 'R7569:Acvrl1'
| ID |
585663 |
| 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 |
045657-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7569 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101026403-101043217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101033636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 106
(Q106R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000542]
[ENSMUST00000117984]
[ENSMUST00000119063]
[ENSMUST00000120028]
[ENSMUST00000120754]
[ENSMUST00000121718]
[ENSMUST00000124151]
[ENSMUST00000130432]
[ENSMUST00000144229]
|
| AlphaFold |
Q61288 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000542
AA Change: Q106R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: Q106R
| 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: ENSMUST00000117984
AA Change: Q106R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: Q106R
| 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 benign
Transcript: ENSMUST00000119063
AA Change: Q106R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: Q106R
| 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: ENSMUST00000120028
AA Change: Q106R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: Q106R
| 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: ENSMUST00000120754
AA Change: Q106R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: Q106R
| 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: ENSMUST00000121718
AA Change: Q106R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: Q106R
| 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 |
probably benign
Transcript: ENSMUST00000130432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144229
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182O14Rik |
A |
T |
15: 40,008,344 (GRCm39) |
T73S |
unknown |
Het |
| Adgb |
A |
T |
10: 10,306,996 (GRCm39) |
D329E |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,289,900 (GRCm39) |
D1844E |
probably damaging |
Het |
| Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
| Apol6 |
A |
C |
15: 76,934,898 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,629,506 (GRCm39) |
V618M |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,619,046 (GRCm39) |
T113A |
probably benign |
Het |
| BC034090 |
T |
A |
1: 155,093,151 (GRCm39) |
H769L |
probably benign |
Het |
| Bcl11a |
G |
T |
11: 24,035,458 (GRCm39) |
E65* |
probably null |
Het |
| Birc6 |
G |
T |
17: 74,905,077 (GRCm39) |
R1290L |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,819,063 (GRCm39) |
E465G |
probably benign |
Het |
| Cav2 |
T |
A |
6: 17,282,078 (GRCm39) |
I112N |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,957,539 (GRCm39) |
A848V |
probably damaging |
Het |
| Col8a1 |
T |
A |
16: 57,447,555 (GRCm39) |
I652F |
unknown |
Het |
| Cul4a |
A |
G |
8: 13,173,493 (GRCm39) |
N180S |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,287,327 (GRCm39) |
S214P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,323,271 (GRCm39) |
V1197A |
possibly damaging |
Het |
| Dynlt1f |
A |
G |
17: 6,923,181 (GRCm39) |
S7P |
not run |
Het |
| Eef1ece2 |
T |
A |
16: 20,461,237 (GRCm39) |
Y641* |
probably null |
Het |
| Epha1 |
T |
A |
6: 42,342,356 (GRCm39) |
T331S |
possibly damaging |
Het |
| Hus1b |
A |
G |
13: 31,130,847 (GRCm39) |
Y271H |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,978 (GRCm39) |
V2610A |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,141,046 (GRCm39) |
L651P |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,298,661 (GRCm39) |
Y361C |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,366,142 (GRCm39) |
V349A |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,977,388 (GRCm39) |
R912G |
probably benign |
Het |
| Mtarc2 |
A |
T |
1: 184,573,622 (GRCm39) |
F92Y |
possibly damaging |
Het |
| Nampt |
T |
A |
12: 32,900,433 (GRCm39) |
H459Q |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 70,999,869 (GRCm39) |
M817V |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,225,026 (GRCm39) |
R345G |
probably benign |
Het |
| Nuak2 |
G |
A |
1: 132,244,019 (GRCm39) |
A18T |
possibly damaging |
Het |
| Or4d6 |
T |
C |
19: 12,086,385 (GRCm39) |
D175G |
possibly damaging |
Het |
| Or5ak23 |
A |
G |
2: 85,244,479 (GRCm39) |
V248A |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3b |
T |
C |
11: 29,138,540 (GRCm39) |
F296S |
possibly damaging |
Het |
| Pramel51 |
A |
T |
12: 88,143,085 (GRCm39) |
Y373N |
probably benign |
Het |
| Pycr2 |
T |
C |
1: 180,732,083 (GRCm39) |
F19L |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,832,003 (GRCm39) |
T226S |
possibly damaging |
Het |
| Rock1 |
A |
T |
18: 10,140,194 (GRCm39) |
N132K |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,355,063 (GRCm39) |
L379Q |
unknown |
Het |
| Sema6d |
A |
G |
2: 124,499,892 (GRCm39) |
I323V |
possibly damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,672,479 (GRCm39) |
I814T |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,272,584 (GRCm39) |
G352R |
probably damaging |
Het |
| Slc39a14 |
T |
C |
14: 70,547,276 (GRCm39) |
T357A |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,029,695 (GRCm39) |
D94E |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,183,220 (GRCm39) |
Y1018H |
probably benign |
Het |
| Srebf1 |
G |
T |
11: 60,090,947 (GRCm39) |
T1069K |
possibly damaging |
Het |
| St3gal3 |
A |
G |
4: 117,821,553 (GRCm39) |
V123A |
probably benign |
Het |
| Stradb |
A |
G |
1: 59,030,310 (GRCm39) |
Y188C |
unknown |
Het |
| Styxl2 |
T |
C |
1: 165,935,604 (GRCm39) |
D198G |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,513,430 (GRCm39) |
F186L |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,164 (GRCm39) |
T1120A |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,446,440 (GRCm39) |
S430T |
probably benign |
Het |
| Tmem62 |
A |
T |
2: 120,837,411 (GRCm39) |
I573L |
probably benign |
Het |
| Trav9-1 |
T |
C |
14: 53,725,581 (GRCm39) |
S7P |
probably benign |
Het |
| U2af1l4 |
A |
T |
7: 30,262,982 (GRCm39) |
I24F |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,097,302 (GRCm39) |
I840N |
probably damaging |
Het |
| Vmn2r74 |
A |
C |
7: 85,601,544 (GRCm39) |
I698S |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,111,896 (GRCm39) |
P12L |
possibly damaging |
Het |
| Zfp507 |
T |
A |
7: 35,493,969 (GRCm39) |
E358V |
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 |
|
R5053:Acvrl1
|
UTSW |
15 |
101,035,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CAACGTGTCTCTGATGCTGG -3'
(R):5'- TTCAGGATGAGACTGGACTCG -3'
Sequencing Primer
(F):5'- AGGGTATGTCAGGTGGCTCAC -3'
(R):5'- ACTCGCCCAGGTCACTGTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation