Mutagenetix > Incidental Mutation

Incidental Mutation 'R4995:Acvrl1'

385211

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

042589-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4995 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101026403-101043217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101033741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 141 (R141H)

Ref Sequence

ENSEMBL: ENSMUSP00000112490 (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: R141H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: R141H

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: R141H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: R141H

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: R141H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: R141H

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: R141H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: R141H

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: R141H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: R141H

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: R141H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: R141H

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: ENSMUST00000128868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128525

Predicted Effect

probably benign
Transcript: ENSMUST00000130432

Predicted Effect

probably benign
Transcript: ENSMUST00000144229

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (86/87)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	A	2: 19,498,995 (GRCm39)	Q333*	probably null	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adprm	A	G	11: 66,932,436 (GRCm39)	F158L	possibly damaging	Het
Aldoart2	C	T	12: 55,613,038 (GRCm39)	T321M	probably benign	Het
Ap3m2	A	G	8: 23,293,792 (GRCm39)	V86A	probably benign	Het
Arhgef19	T	A	4: 140,974,826 (GRCm39)		probably null	Het
Bcl2l12	T	G	7: 44,643,615 (GRCm39)		probably null	Het
Bptf	T	C	11: 106,945,391 (GRCm39)	Q2501R	probably damaging	Het
C230029F24Rik	A	T	1: 49,377,295 (GRCm39)		noncoding transcript	Het
C7	C	T	15: 5,079,074 (GRCm39)	G78D	probably damaging	Het
Caly	T	C	7: 139,650,538 (GRCm39)	T135A	probably benign	Het
Cbl	A	G	9: 44,065,108 (GRCm39)	M740T	possibly damaging	Het
Cbx4	A	G	11: 118,972,037 (GRCm39)	V446A	probably benign	Het
Celsr1	C	A	15: 85,822,112 (GRCm39)	R1735L	probably damaging	Het
Cep250	A	G	2: 155,830,236 (GRCm39)	D135G	probably damaging	Het
Cgn	T	C	3: 94,687,246 (GRCm39)	T19A	probably damaging	Het
Chic2	A	T	5: 75,204,865 (GRCm39)	V32D	probably damaging	Het
Cntln	A	G	4: 84,968,120 (GRCm39)	K780E	probably benign	Het
Col8a2	A	T	4: 126,204,581 (GRCm39)	D197V	probably damaging	Het
Crot	A	T	5: 9,024,000 (GRCm39)	V372E	probably damaging	Het
Cyb561d2	C	T	9: 107,418,747 (GRCm39)	V26M	probably damaging	Het
Ddx5	G	A	11: 106,676,062 (GRCm39)	T237I	probably damaging	Het
Dmxl2	G	T	9: 54,408,725 (GRCm39)		probably benign	Het
Dock8	T	A	19: 25,135,747 (GRCm39)	S1188R	probably benign	Het
Ehbp1	T	A	11: 22,051,073 (GRCm39)	H493L	probably damaging	Het
Eif5b	T	A	1: 38,090,792 (GRCm39)	*1217K	probably null	Het
Eprs1	A	G	1: 185,142,336 (GRCm39)		probably benign	Het
Etfdh	T	C	3: 79,513,095 (GRCm39)	D376G	probably benign	Het
Fam186a	T	C	15: 99,842,980 (GRCm39)	Q1088R	probably benign	Het
Fbxw16	G	T	9: 109,270,318 (GRCm39)	T141N	probably damaging	Het
Fgf11	G	A	11: 69,689,585 (GRCm39)	H138Y	probably damaging	Het
Htra3	T	C	5: 35,828,418 (GRCm39)	E154G	probably damaging	Het
Hydin	T	A	8: 111,296,274 (GRCm39)	V3601D	probably damaging	Het
Jup	G	T	11: 100,270,367 (GRCm39)	S380*	probably null	Het
Klrg1	T	A	6: 122,255,234 (GRCm39)	D66V	probably benign	Het
Llgl1	C	T	11: 60,600,550 (GRCm39)	A633V	probably benign	Het
Lmln	T	A	16: 32,894,467 (GRCm39)	Y203*	probably null	Het
Lrrc58	T	G	16: 37,697,418 (GRCm39)	C165G	probably benign	Het
Lss	T	C	10: 76,383,371 (GRCm39)	V557A	probably benign	Het
Mast4	T	C	13: 103,042,262 (GRCm39)		probably benign	Het
Med13l	C	A	5: 118,869,014 (GRCm39)	P754Q	possibly damaging	Het
Mga	C	T	2: 119,763,063 (GRCm39)	R1240*	probably null	Het
Mgat5b	T	A	11: 116,865,025 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,209 (GRCm39)	D1572G	probably damaging	Het
Muc4	T	A	16: 32,754,214 (GRCm38)	S1363T	probably benign	Het
Muc4	T	A	16: 32,575,332 (GRCm39)	S1306T	probably benign	Het
Myo18b	A	G	5: 112,908,258 (GRCm39)	V2005A	probably damaging	Het
Myo1e	G	A	9: 70,260,554 (GRCm39)	D571N	probably benign	Het
Mypn	T	C	10: 62,955,747 (GRCm39)		probably null	Het
Ndufb10	T	C	17: 24,941,731 (GRCm39)		probably null	Het
Nelfb	G	T	2: 25,096,208 (GRCm39)	D300E	probably benign	Het
Nicol1	G	A	5: 34,142,270 (GRCm39)	R79H	probably damaging	Het
Odad2	G	A	18: 7,223,663 (GRCm39)	T460M	probably damaging	Het
Or2y1d	T	A	11: 49,321,482 (GRCm39)	Y60N	probably damaging	Het
Or4e5	A	T	14: 52,727,988 (GRCm39)	C61*	probably null	Het
Or52n2c	T	A	7: 104,574,942 (GRCm39)	T10S	probably benign	Het
Or52z15	T	A	7: 103,332,574 (GRCm39)	D206E	probably damaging	Het
Pcdha11	C	T	18: 37,144,080 (GRCm39)	T57M	probably benign	Het
Pkp1	A	T	1: 135,808,593 (GRCm39)	I458N	possibly damaging	Het
Prr12	T	A	7: 44,700,653 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,532,879 (GRCm39)		probably benign	Het
Psd4	T	C	2: 24,287,259 (GRCm39)	F397S	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rfx1	T	A	8: 84,806,743 (GRCm39)		probably null	Het
Rsl1	A	G	13: 67,330,313 (GRCm39)	T254A	possibly damaging	Het
Sh3rf3	A	G	10: 58,922,646 (GRCm39)	Q574R	probably benign	Het
Spire1	T	C	18: 67,685,849 (GRCm39)		probably null	Het
St6galnac4	G	A	2: 32,484,075 (GRCm39)	G91D	probably damaging	Het
Sytl2	T	C	7: 90,031,465 (GRCm39)		probably benign	Het
Tbpl2	T	A	2: 23,983,872 (GRCm39)	K188N	possibly damaging	Het
Tenm3	A	T	8: 48,682,172 (GRCm39)	M2486K	possibly damaging	Het
Tgoln1	A	C	6: 72,593,123 (GRCm39)	V119G	possibly damaging	Het
Tpgs1	A	T	10: 79,505,325 (GRCm39)	N28Y	probably benign	Het
U2surp	A	C	9: 95,344,847 (GRCm39)		probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Vmn2r19	A	G	6: 123,306,869 (GRCm39)	N459S	probably benign	Het
Vmn2r72	T	C	7: 85,387,693 (GRCm39)	S624G	probably damaging	Het
Vps13c	A	G	9: 67,826,603 (GRCm39)	T1415A	probably benign	Het
Vwa5b1	G	A	4: 138,336,154 (GRCm39)	P147S	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
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

Predicted Primers

PCR Primer
(F):5'- ATGCTGGGATCTGACTGTAAGTAG -3'
(R):5'- ACAGCTTGGTCCTCACTGTC -3'

Sequencing Primer
(F):5'- ATCTGACTGTAAGTAGTCTGGCTCAG -3'
(R):5'- TCACTGTCATCATGGGTGAC -3'

Posted On

2016-05-10