Mutagenetix > Incidental Mutation

Incidental Mutation 'R7224:Acvrl1'

562063

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

045296-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101026403-101043217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101041245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 466 (M466V)

Ref Sequence

ENSEMBL: ENSMUSP00000000542 (fasta)

Gene Model

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

AlphaFold

Q61288

Predicted Effect

probably benign
Transcript: ENSMUST00000000542
AA Change: M466V

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: M466V

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: M466V

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: M466V

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: M466V

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: M466V

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: M466V

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: M466V

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: M466V

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: M466V

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: M466V

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: M466V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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
Aadac	C	T	3: 59,943,275 (GRCm39)	T60M	probably benign	Het
Actn4	C	T	7: 28,661,509 (GRCm39)	A34T	probably benign	Het
Adamts7	T	C	9: 90,067,868 (GRCm39)	Y453H	probably damaging	Het
Amfr	G	A	8: 94,711,484 (GRCm39)	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,516,688 (GRCm39)	T492M	probably benign	Het
Anxa6	A	G	11: 54,876,993 (GRCm39)	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,318,384 (GRCm39)	Y394D	unknown	Het
Atic	G	A	1: 71,610,014 (GRCm39)	V342I	probably benign	Het
Atl1	C	A	12: 70,002,127 (GRCm39)	T362N	probably benign	Het
Atp10a	A	T	7: 58,447,219 (GRCm39)	M654L	probably benign	Het
B3gnt5	A	T	16: 19,588,503 (GRCm39)	M241L	probably benign	Het
Bbs7	A	G	3: 36,659,877 (GRCm39)	V186A	possibly damaging	Het
Brme1	A	G	8: 84,898,842 (GRCm39)	T577A	probably benign	Het
C8b	T	C	4: 104,637,795 (GRCm39)	L89P	probably damaging	Het
Capn7	G	T	14: 31,092,678 (GRCm39)	E742*	probably null	Het
Ccdc162	G	A	10: 41,437,187 (GRCm39)	R1741C	probably damaging	Het
Cdhr17	T	C	5: 17,041,592 (GRCm39)	V615A	possibly damaging	Het
Chsy3	T	A	18: 59,542,047 (GRCm39)	L395H	probably damaging	Het
Cnot9	A	G	1: 74,556,388 (GRCm39)	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp2d12	T	A	15: 82,441,849 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,436,420 (GRCm39)	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,584,196 (GRCm39)	G533D	possibly damaging	Het
Eddm13	T	G	7: 6,271,801 (GRCm39)	M77R	probably benign	Het
Elfn1	A	G	5: 139,958,228 (GRCm39)	S411G	probably benign	Het
Enpp3	T	C	10: 24,652,782 (GRCm39)	D725G	possibly damaging	Het
Fmnl1	T	C	11: 103,073,595 (GRCm39)		probably null	Het
Fndc8	T	C	11: 82,783,151 (GRCm39)	M44T	probably benign	Het
Gcgr	A	T	11: 120,425,538 (GRCm39)		probably benign	Het
Ggt1	T	A	10: 75,410,110 (GRCm39)	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,331,447 (GRCm39)	I198M	unknown	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm6034	T	A	17: 36,367,331 (GRCm39)	S59T	unknown	Het
Gm6408	G	A	5: 146,421,180 (GRCm39)	V270I	probably benign	Het
Gpr20	A	T	15: 73,567,981 (GRCm39)	I136N	probably damaging	Het
Ide	T	C	19: 37,268,160 (GRCm39)	E565G		Het
Igsf9	T	C	1: 172,322,349 (GRCm39)	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,590,965 (GRCm39)	R416*	probably null	Het
Kcnd3	A	T	3: 105,576,400 (GRCm39)	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,756,805 (GRCm39)	M265L	probably benign	Het
Klhdc1	G	A	12: 69,309,923 (GRCm39)	S275N	probably damaging	Het
Ldc1	C	G	4: 130,112,992 (GRCm39)	A135P	probably damaging	Het
Lrba	A	C	3: 86,302,553 (GRCm39)	N1871T	probably damaging	Het
Lrrk1	A	G	7: 65,982,134 (GRCm39)	V169A	probably damaging	Het
Magi1	A	G	6: 93,660,070 (GRCm39)	I1175T	probably benign	Het
Man1a2	T	C	3: 100,489,369 (GRCm39)	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,459,209 (GRCm39)	N129S	probably damaging	Het
Mup5	G	A	4: 61,750,622 (GRCm39)	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,488,877 (GRCm39)	R216C	probably damaging	Het
Neb	T	C	2: 52,224,671 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or52m2	A	T	7: 102,263,974 (GRCm39)	M74K	probably damaging	Het
Or5a1	T	C	19: 12,097,912 (GRCm39)	T55A	probably benign	Het
Or8b12b	G	A	9: 37,684,711 (GRCm39)	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,110,872 (GRCm39)	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,706,511 (GRCm39)	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,895,241 (GRCm39)	L623P		Het
Plxdc1	T	C	11: 97,823,153 (GRCm39)	T363A	possibly damaging	Het
Pole3	T	C	4: 62,442,287 (GRCm39)	D111G	unknown	Het
R3hdm2	T	A	10: 127,294,022 (GRCm39)	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,599,322 (GRCm39)	V90A		Het
Rcbtb1	C	G	14: 59,465,828 (GRCm39)	I390M	probably damaging	Het
Romo1	G	A	2: 155,986,295 (GRCm39)		probably benign	Het
Sars1	A	G	3: 108,335,519 (GRCm39)	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,224,724 (GRCm39)	T327A	probably benign	Het
Slc30a5	A	G	13: 100,945,762 (GRCm39)	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,473,044 (GRCm39)	E43K	probably benign	Het
Slc38a2	A	C	15: 96,589,240 (GRCm39)	L418W	probably damaging	Het
Snx14	T	C	9: 88,276,614 (GRCm39)	E557G	possibly damaging	Het
Spata33	T	A	8: 123,948,737 (GRCm39)	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,714,839 (GRCm39)	H170L	probably damaging	Het
Trpm1	A	G	7: 63,868,854 (GRCm39)		probably null	Het
Tsr3	A	T	17: 25,461,569 (GRCm39)	E302D	probably benign	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Usp2	C	T	9: 43,987,266 (GRCm39)	T188M	possibly damaging	Het
Usp44	A	G	10: 93,681,855 (GRCm39)	I102V	probably benign	Het
Wasf1	A	G	10: 40,802,546 (GRCm39)	N67S	probably benign	Het
Zfp445	T	C	9: 122,681,208 (GRCm39)	N911S	probably benign	Het
Zfp467	A	G	6: 48,421,903 (GRCm39)		probably null	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
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'- AGGAAAACCCTTCACAGCGG -3'
(R):5'- ACAGGCTATGTCTTCTGCCC -3'

Sequencing Primer
(F):5'- GGAACTCAAAGATCCTCCTGACTTTG -3'
(R):5'- TGCCCCAGCACACACTTTAGG -3'

Posted On

2019-06-26