Mutagenetix > Incidental Mutation

Incidental Mutation 'R1666:Acvrl1'

187228

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

039702-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1666 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

101026403-101043217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101035458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 328 (R328H)

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: R328H

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

SMART Domains

Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: R328H

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: R328H

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

SMART Domains

Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: R328H

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: R328H

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

SMART Domains

Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: R328H

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: R328H

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

SMART Domains

Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: R328H

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: R328H

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

SMART Domains

Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: R328H

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: R328H

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

SMART Domains

Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: R328H

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: ENSMUST00000128525

Predicted Effect

probably benign
Transcript: ENSMUST00000144229

Predicted Effect

probably benign
Transcript: ENSMUST00000130432

Coding Region Coverage

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

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afp	T	C	5: 90,652,927 (GRCm39)	S466P	probably damaging	Het
Arhgap45	A	G	10: 79,864,584 (GRCm39)	S879G	possibly damaging	Het
Asic1	A	G	15: 99,597,006 (GRCm39)	D556G	probably damaging	Het
Atp2a3	T	A	11: 72,869,633 (GRCm39)		probably null	Het
Brinp2	C	A	1: 158,074,128 (GRCm39)	E664D	probably damaging	Het
Cap2	C	A	13: 46,768,799 (GRCm39)	H147N	probably damaging	Het
Cd209f	G	A	8: 4,154,862 (GRCm39)	Q79*	probably null	Het
Chrna7	T	C	7: 62,861,890 (GRCm39)	Y54C	possibly damaging	Het
Clec1a	T	C	6: 129,413,967 (GRCm39)	D40G	probably benign	Het
Col11a1	A	G	3: 113,855,184 (GRCm39)	E148G	unknown	Het
Comp	A	T	8: 70,831,607 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,665,460 (GRCm39)		probably null	Het
Cyfip1	T	A	7: 55,521,646 (GRCm39)	N13K	probably damaging	Het
Cyp2c50	A	T	19: 40,079,499 (GRCm39)	M198L	probably benign	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Elapor1	A	G	3: 108,377,313 (GRCm39)	S434P	probably benign	Het
Epb41l4a	A	G	18: 34,054,962 (GRCm39)	L42P	probably damaging	Het
Exo1	T	C	1: 175,736,052 (GRCm39)	I812T	possibly damaging	Het
Fbxl17	A	T	17: 63,692,060 (GRCm39)		probably null	Het
Fxn	A	G	19: 24,239,377 (GRCm39)	Y172H	probably damaging	Het
Gabra6	A	G	11: 42,208,461 (GRCm39)	S124P	probably damaging	Het
Gje1	C	A	10: 14,592,551 (GRCm39)	W77L	possibly damaging	Het
Glra1	A	G	11: 55,465,225 (GRCm39)	S23P	probably damaging	Het
Gm6811	T	C	17: 21,314,529 (GRCm39)		noncoding transcript	Het
Greb1l	T	A	18: 10,501,080 (GRCm39)		probably null	Het
Greb1l	T	C	18: 10,529,708 (GRCm39)		probably null	Het
Grm6	A	T	11: 50,750,711 (GRCm39)	I625F	probably damaging	Het
Guca1a	A	G	17: 47,711,167 (GRCm39)	F60L	probably damaging	Het
Hectd1	T	A	12: 51,800,607 (GRCm39)	E2070D	possibly damaging	Het
Itga5	G	A	15: 103,256,329 (GRCm39)	T910I	probably benign	Het
Kctd10	A	G	5: 114,507,051 (GRCm39)	V142A	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Lmtk3	A	T	7: 45,443,588 (GRCm39)	D757V	probably benign	Het
Lpcat1	T	C	13: 73,658,242 (GRCm39)		probably null	Het
Lrrc30	A	T	17: 67,939,200 (GRCm39)	C127S	probably benign	Het
Mc4r	A	G	18: 66,992,480 (GRCm39)	L211P	probably damaging	Het
Mgat5b	T	A	11: 116,874,474 (GRCm39)	N635K	probably benign	Het
Mms19	A	T	19: 41,940,995 (GRCm39)	M443K	possibly damaging	Het
Mroh5	T	C	15: 73,659,754 (GRCm39)	N359S	probably benign	Het
Nlrc4	G	A	17: 74,752,901 (GRCm39)	T494M	probably damaging	Het
Ntf3	T	C	6: 126,079,401 (GRCm39)	D35G	possibly damaging	Het
Or5g25	A	T	2: 85,478,157 (GRCm39)	C169*	probably null	Het
Osbpl5	T	C	7: 143,262,776 (GRCm39)	H192R	probably damaging	Het
Parp4	A	T	14: 56,861,620 (GRCm39)	K984N	possibly damaging	Het
Pdgfra	G	A	5: 75,349,681 (GRCm39)	G892D	possibly damaging	Het
Pik3c2g	A	T	6: 139,612,634 (GRCm39)		probably benign	Het
Ppcdc	T	A	9: 57,321,998 (GRCm39)	M181L	possibly damaging	Het
Pramel7	G	A	2: 87,322,747 (GRCm39)	P6S	probably damaging	Het
Prkcz	G	T	4: 155,374,208 (GRCm39)	F69L	probably damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Ptgs2	A	G	1: 149,977,021 (GRCm39)	Y44C	probably damaging	Het
Rbck1	T	A	2: 152,158,819 (GRCm39)	S488C	probably damaging	Het
Rbl1	T	C	2: 157,001,654 (GRCm39)	Y878C	probably damaging	Het
Rbm6	G	A	9: 107,669,055 (GRCm39)	T619I	probably benign	Het
Rp1	A	G	1: 4,420,086 (GRCm39)	I342T	probably damaging	Het
Rpn2	C	T	2: 157,136,075 (GRCm39)	T161M	possibly damaging	Het
Rufy4	G	A	1: 74,186,837 (GRCm39)	V542I	probably benign	Het
Sema5b	C	T	16: 35,478,852 (GRCm39)	P559S	probably benign	Het
Serpinb3d	A	G	1: 107,008,481 (GRCm39)	V128A	probably benign	Het
Slc35f3	T	A	8: 127,115,960 (GRCm39)	S296T	probably damaging	Het
Slco1a8	T	A	6: 141,927,775 (GRCm39)		probably null	Het
Smarca2	A	G	19: 26,624,434 (GRCm39)	I365V	possibly damaging	Het
Spdya	T	A	17: 71,885,235 (GRCm39)	C230S	probably damaging	Het
Sv2b	G	A	7: 74,856,089 (GRCm39)	A67V	probably benign	Het
Tapbpl	A	G	6: 125,207,164 (GRCm39)	V175A	probably benign	Het
Tmt1a3	A	G	15: 100,233,099 (GRCm39)	I97V	probably benign	Het
Ttn	T	C	2: 76,642,095 (GRCm39)	T13373A	probably damaging	Het
Tubb5	A	T	17: 36,147,530 (GRCm39)	N52K	probably benign	Het
Tyr	T	A	7: 87,142,149 (GRCm39)	Y137F	probably damaging	Het
Unc45b	T	A	11: 82,808,565 (GRCm39)	I217N	probably benign	Het
Vmn1r202	A	T	13: 22,685,540 (GRCm39)	D292E	possibly damaging	Het
Vmn1r22	A	G	6: 57,877,704 (GRCm39)	M91T	probably benign	Het
Washc2	T	A	6: 116,200,215 (GRCm39)		probably null	Het
Zfp566	A	T	7: 29,777,901 (GRCm39)	H93Q	probably benign	Het
Zfp740	A	G	15: 102,116,753 (GRCm39)	D56G	probably damaging	Het
Zfp804b	A	C	5: 6,821,323 (GRCm39)	L580R	possibly damaging	Het
Zmiz2	T	G	11: 6,346,836 (GRCm39)	S148R	probably benign	Het
Zmym6	T	A	4: 127,016,652 (GRCm39)	I719N	probably damaging	Het
Zyx	T	A	6: 42,332,966 (GRCm39)	V372E	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CATGAACACGGCTCCCTCTATGAC -3'
(R):5'- CCCAAAGACTCGGCATGATGATACC -3'

Sequencing Primer
(F):5'- GGCTCCCTCTATGACTTTCTG -3'
(R):5'- atacgggaactcactacttagac -3'

Posted On

2014-05-09