Mutagenetix > Incidental Mutation

Incidental Mutation 'R5093:Acvrl1'

387959

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

042682-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5093 (G1)

Quality Score

112

Status

Validated

Chromosome

Chromosomal Location

101026403-101043217 bp(+) (GRCm39)

Type of Mutation

splice site (53 bp from exon)

DNA Base Change (assembly)

A to G at 101032628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115241 (fasta)

Gene Model

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

AlphaFold

Q61288

Predicted Effect

probably null
Transcript: ENSMUST00000000542

SMART Domains

Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530

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 null
Transcript: ENSMUST00000117984

SMART Domains

Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530

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 null
Transcript: ENSMUST00000119063

SMART Domains

Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530

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 null
Transcript: ENSMUST00000120028

SMART Domains

Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530

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 null
Transcript: ENSMUST00000120754

SMART Domains

Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530

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 null
Transcript: ENSMUST00000121718

SMART Domains

Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530

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 null
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 null
Transcript: ENSMUST00000130432

Predicted Effect

probably null
Transcript: ENSMUST00000144229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128525

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (90/91)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,610,573 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,032,358 (GRCm39)	L753Q	probably damaging	Het
Adgrv1	A	T	13: 81,740,704 (GRCm39)	N141K	probably damaging	Het
Aftph	C	T	11: 20,659,619 (GRCm39)		probably null	Het
Aifm1	C	T	X: 47,571,637 (GRCm39)	G371S	probably benign	Het
Aldh3b2	A	G	19: 4,029,433 (GRCm39)	M269V	probably benign	Het
Ankrd44	T	C	1: 54,802,877 (GRCm39)	Y207C	probably damaging	Het
Arhgap15	G	T	2: 44,212,767 (GRCm39)	M412I	probably damaging	Het
Auts2	A	C	5: 131,468,296 (GRCm39)	L783R	probably damaging	Het
Baiap2l1	A	T	5: 144,215,363 (GRCm39)	Y381N	probably damaging	Het
Baiap3	T	C	17: 25,469,243 (GRCm39)	D180G	probably damaging	Het
Cant1	T	C	11: 118,302,038 (GRCm39)	Y93C	probably damaging	Het
Catsperg2	T	C	7: 29,416,423 (GRCm39)	S330G	probably benign	Het
Ccdc73	A	T	2: 104,848,111 (GRCm39)		probably benign	Het
Cdc5l	A	T	17: 45,703,967 (GRCm39)	F752L	possibly damaging	Het
Celsr2	G	T	3: 108,320,689 (GRCm39)	H708N	possibly damaging	Het
Cep170	T	A	1: 176,596,896 (GRCm39)	K487M	possibly damaging	Het
Cerkl	A	T	2: 79,163,867 (GRCm39)	N66K	probably damaging	Het
Cilk1	G	A	9: 78,047,303 (GRCm39)	V68I	probably benign	Het
Clec11a	C	T	7: 43,954,150 (GRCm39)	A268T	probably damaging	Het
Ctnna2	C	A	6: 77,091,912 (GRCm39)		probably null	Het
Diaph3	C	A	14: 87,222,236 (GRCm39)	R416L	probably damaging	Het
Dnmbp	T	A	19: 43,838,315 (GRCm39)	N1170I	probably damaging	Het
Erbb2	G	T	11: 98,318,279 (GRCm39)	C505F	probably damaging	Het
Ercc6	T	A	14: 32,289,479 (GRCm39)	F904L	probably damaging	Het
Exo5	C	T	4: 120,779,514 (GRCm39)	G117D	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Fbxl5	A	G	5: 43,930,896 (GRCm39)	Y64H	probably damaging	Het
Gabra4	T	A	5: 71,798,207 (GRCm39)	M207L	probably damaging	Het
Galnt15	T	C	14: 31,771,786 (GRCm39)	L277P	probably damaging	Het
Gclm	T	C	3: 122,049,261 (GRCm39)		probably null	Het
Gm5493	T	A	17: 22,966,201 (GRCm39)	C29S	possibly damaging	Het
Grik3	A	G	4: 125,564,382 (GRCm39)	T455A	probably benign	Het
Grm3	A	G	5: 9,639,766 (GRCm39)	V93A	probably benign	Het
Hdgfl2	C	T	17: 56,406,217 (GRCm39)	A535V	possibly damaging	Het
Hfm1	A	T	5: 107,049,597 (GRCm39)	S455T	probably damaging	Het
Hmcn1	T	A	1: 150,613,007 (GRCm39)	D1424V	probably benign	Het
Hsd3b6	C	T	3: 98,715,120 (GRCm39)	V91I	probably benign	Het
Igdcc4	G	A	9: 65,030,039 (GRCm39)	S363N	possibly damaging	Het
Intu	T	C	3: 40,647,347 (GRCm39)	V740A	probably benign	Het
Itga2	C	T	13: 114,992,717 (GRCm39)	V838I	probably benign	Het
Kif9	A	G	9: 110,318,965 (GRCm39)	E143G	probably damaging	Het
Kmt2c	T	A	5: 25,614,205 (GRCm39)	I172F	probably benign	Het
Kmt2d	G	A	15: 98,754,043 (GRCm39)	R21W	probably damaging	Het
Mdh1b	A	T	1: 63,750,620 (GRCm39)	D449E	probably benign	Het
Meis1	T	C	11: 18,831,785 (GRCm39)	I418V	probably benign	Het
Nags	T	A	11: 102,037,395 (GRCm39)	M162K	probably damaging	Het
Nufip1	A	G	14: 76,348,413 (GRCm39)	D14G	probably benign	Het
Or2l13	T	A	16: 19,306,227 (GRCm39)	I213N	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or7g28	T	G	9: 19,272,274 (GRCm39)	I126L	probably damaging	Het
Osmr	A	C	15: 6,850,560 (GRCm39)	V681G	probably damaging	Het
Paxip1	G	T	5: 27,971,282 (GRCm39)	Q356K	unknown	Het
Pcdhac1	T	A	18: 37,223,595 (GRCm39)	F136Y	probably damaging	Het
Pla2g6	A	G	15: 79,171,328 (GRCm39)	V699A	probably benign	Het
Plcb3	A	T	19: 6,943,578 (GRCm39)	V107E	probably damaging	Het
Plch1	T	A	3: 63,681,136 (GRCm39)	I164F	probably damaging	Het
Plpp3	A	T	4: 105,052,077 (GRCm39)	I73F	probably damaging	Het
Plscr5	G	A	9: 92,080,574 (GRCm39)	R20Q	probably benign	Het
Prdm10	G	A	9: 31,252,779 (GRCm39)	R504Q	probably damaging	Het
Prss58	T	C	6: 40,874,751 (GRCm39)	Y30C	probably damaging	Het
Psg19	T	A	7: 18,530,894 (GRCm39)	T87S	probably benign	Het
Ptpn22	T	G	3: 103,789,418 (GRCm39)	M294R	probably benign	Het
Rai1	T	A	11: 60,079,482 (GRCm39)	M1182K	probably benign	Het
Sez6	T	A	11: 77,867,388 (GRCm39)	V795D	possibly damaging	Het
Shcbp1	A	G	8: 4,789,214 (GRCm39)	V535A	possibly damaging	Het
Skint9	A	G	4: 112,246,447 (GRCm39)	Y222H	probably benign	Het
Slc13a3	T	A	2: 165,253,816 (GRCm39)	I446F	probably damaging	Het
Slc2a3	C	T	6: 122,714,196 (GRCm39)	R57H	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Spata31d1b	A	T	13: 59,863,838 (GRCm39)	N329Y	possibly damaging	Het
Strbp	C	T	2: 37,517,499 (GRCm39)	R192K	probably damaging	Het
Tctn3	A	T	19: 40,600,548 (GRCm39)	L14Q	probably damaging	Het
Tenm2	T	A	11: 36,834,989 (GRCm39)	D2V	probably damaging	Het
Tln2	T	G	9: 67,241,596 (GRCm39)	K1003T	probably benign	Het
Tmem63b	T	C	17: 45,971,800 (GRCm39)	E805G	probably damaging	Het
Trhr	A	T	15: 44,060,980 (GRCm39)	N167Y	probably damaging	Het
Trpc2	A	G	7: 101,744,390 (GRCm39)	R721G	probably benign	Het
Ttn	C	A	2: 76,701,267 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,869,288 (GRCm39)	I412T	probably damaging	Het
Zcchc4	T	A	5: 52,953,952 (GRCm39)	S211T	probably benign	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
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'- CCTAAAGTCAGACGTAGGAGTTGG -3'
(R):5'- CAGCTTGGCAGTCAGTATCAC -3'

Sequencing Primer
(F):5'- GGAGGTGGCTTCCCTGC -3'
(R):5'- AGGAACAGCTGTGGTGGTG -3'

Posted On

2016-06-06