Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03341:Acvrl1'

417237

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03341

Quality Score

Status

Chromosome

Chromosomal Location

101026403-101043217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101035477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 334 (N334K)

Ref Sequence

ENSEMBL: ENSMUSP00000114027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000542] [ENSMUST00000117984] [ENSMUST00000119063] [ENSMUST00000120028] [ENSMUST00000120754] [ENSMUST00000121718] [ENSMUST00000124151] [ENSMUST00000130432] [ENSMUST00000144229]

AlphaFold

Q61288

Predicted Effect

probably damaging
Transcript: ENSMUST00000000542
AA Change: N334K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: N334K

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: N334K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: N334K

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: N334K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: N334K

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: N334K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: N334K

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: N334K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: N334K

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: N334K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: N334K

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: ENSMUST00000130432

Predicted Effect

probably benign
Transcript: ENSMUST00000144229

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	T	2: 35,265,906 (GRCm39)	V255I	possibly damaging	Het
Arhgef5	T	A	6: 43,257,585 (GRCm39)	I1284N	probably damaging	Het
Asns	C	A	6: 7,682,002 (GRCm39)	R236L	probably damaging	Het
Barx2	T	C	9: 31,770,090 (GRCm39)	E146G	probably damaging	Het
Ccl7	A	G	11: 81,936,661 (GRCm39)	S18G	probably benign	Het
Cilp	A	T	9: 65,185,284 (GRCm39)	T460S	probably benign	Het
Cpa5	A	G	6: 30,626,290 (GRCm39)	Y217C	possibly damaging	Het
Dgkh	T	A	14: 78,832,931 (GRCm39)		probably benign	Het
Dmc1	T	C	15: 79,446,746 (GRCm39)	T276A	probably benign	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Gstm2	T	C	3: 107,891,521 (GRCm39)	Y93C	possibly damaging	Het
Hc	A	T	2: 34,893,389 (GRCm39)	I1274N	probably damaging	Het
Htra1	A	G	7: 130,583,444 (GRCm39)	I355V	probably benign	Het
Ifi214	G	T	1: 173,354,082 (GRCm39)	T196K	possibly damaging	Het
Ms4a5	T	C	19: 11,256,742 (GRCm39)	T52A	probably benign	Het
Mtx3	T	C	13: 92,984,391 (GRCm39)	F191L	probably damaging	Het
Padi2	A	G	4: 140,654,424 (GRCm39)	M192V	probably benign	Het
Pdcl3	C	A	1: 39,034,976 (GRCm39)	Q178K	probably benign	Het
Rap1gap2	G	A	11: 74,326,540 (GRCm39)	R176W	probably damaging	Het
Ska2	A	G	11: 87,006,990 (GRCm39)	T32A	probably benign	Het
Slc6a18	G	T	13: 73,826,042 (GRCm39)	Q3K	probably benign	Het
Slc7a14	T	C	3: 31,292,919 (GRCm39)	Y122C	probably damaging	Het
Svep1	T	A	4: 58,070,308 (GRCm39)	K2493*	probably null	Het
Trpm6	T	A	19: 18,790,850 (GRCm39)	N628K	probably benign	Het
Ttc17	T	A	2: 94,205,566 (GRCm39)	N260I	probably damaging	Het
Ttc7b	T	C	12: 100,291,994 (GRCm39)	I193V	possibly damaging	Het
Ttn	T	A	2: 76,542,583 (GRCm39)	T25141S	possibly damaging	Het
Zfhx4	A	C	3: 5,476,910 (GRCm39)	Q3150P	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
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
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

Posted On

2016-08-02