Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Acvr1'

163282

Institutional Source

Beutler Lab

Gene Symbol

Acvr1

Ensembl Gene

ENSMUSG00000026836

Gene Name

activin A receptor, type 1

Synonyms

Alk8, Tsk7L, SKR1, D330013D15Rik, ActRIA, ALK2, Acvr1a, Acvr, Alk-2, Acvrlk2, ActR-I

MMRRC Submission

039537-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58336450-58456840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58369901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 36 (V36E)

Ref Sequence

ENSEMBL: ENSMUSP00000120755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056376] [ENSMUST00000090935] [ENSMUST00000112599] [ENSMUST00000112601] [ENSMUST00000126407]

AlphaFold

P37172

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056376
AA Change: V36E

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056784
Gene: ENSMUSG00000026836
AA Change: V36E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Activin_recp	33	107	4e-14	PFAM
transmembrane domain	124	146	N/A	INTRINSIC
GS	178	208	5.13e-16	SMART
Blast:STYKc	212	501	1e-25	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090935
AA Change: V36E

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088453
Gene: ENSMUSG00000026836
AA Change: V36E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Activin_recp	33	107	4e-14	PFAM
transmembrane domain	124	146	N/A	INTRINSIC
GS	178	208	5.13e-16	SMART
Blast:STYKc	212	501	1e-25	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112599
AA Change: V36E

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108218
Gene: ENSMUSG00000026836
AA Change: V36E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Activin_recp	33	107	1.4e-13	PFAM
transmembrane domain	124	146	N/A	INTRINSIC
GS	178	208	5.13e-16	SMART
Blast:STYKc	212	501	1e-25	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112601
AA Change: V36E

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108220
Gene: ENSMUSG00000026836
AA Change: V36E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Activin_recp	33	107	4e-14	PFAM
transmembrane domain	124	146	N/A	INTRINSIC
GS	178	208	5.13e-16	SMART
Blast:STYKc	212	501	1e-25	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000126407
AA Change: V36E

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

SMART Domains

Protein: ENSMUSP00000120755
Gene: ENSMUSG00000026836
AA Change: V36E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Activin_recp	33	107	3.9e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145495

Meta Mutation Damage Score

0.2237

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth arrest and complete embryonic lethality due to gastrulation defects associated with abnormalities in primitive streak formation, embryonic epiblast morphology, and mesoderm and ectoderm development. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Targeted, knock-out(4) Targeted, other(3) Gene trapped(5)

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,684,776 (GRCm39)		noncoding transcript	Het
Aldh4a1	A	G	4: 139,370,758 (GRCm39)	I414V	probably benign	Het
Alox5	C	T	6: 116,431,128 (GRCm39)	C100Y	probably damaging	Het
Ano5	T	A	7: 51,216,068 (GRCm39)	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,230,839 (GRCm39)	V199M	probably damaging	Het
Arl13b	T	A	16: 62,626,999 (GRCm39)	Q234L	probably benign	Het
Atxn1	C	A	13: 45,711,052 (GRCm39)	E627*	probably null	Het
Bend3	T	C	10: 43,386,197 (GRCm39)	F197L	probably benign	Het
Brca1	A	T	11: 101,420,638 (GRCm39)	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,292,096 (GRCm39)	W381R	probably damaging	Het
Brwd1	A	C	16: 95,829,491 (GRCm39)		probably null	Het
C1s2	T	C	6: 124,602,604 (GRCm39)	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,089,397 (GRCm39)	R1638W	probably damaging	Het
Capns1	T	A	7: 29,893,511 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep126	G	A	9: 8,100,554 (GRCm39)	T660I	possibly damaging	Het
Cep295	A	C	9: 15,246,080 (GRCm39)	I744R	probably damaging	Het
Chd3	T	C	11: 69,250,725 (GRCm39)	E668G	probably benign	Het
Chek2	A	G	5: 110,996,553 (GRCm39)	T172A	probably damaging	Het
Col6a4	A	G	9: 105,890,501 (GRCm39)		probably null	Het
Coq3	G	A	4: 21,900,291 (GRCm39)	V173I	probably benign	Het
Cyp4x1	A	T	4: 114,970,098 (GRCm39)	I343N	probably damaging	Het
Dnah7b	T	A	1: 46,176,703 (GRCm39)	D774E	probably benign	Het
Dnai3	T	C	3: 145,802,996 (GRCm39)	D65G	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Esrra	T	C	19: 6,890,197 (GRCm39)	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,502,592 (GRCm39)	D421E	probably benign	Het
Gpr15	T	C	16: 58,538,937 (GRCm39)	N51D	probably damaging	Het
Gpr156	T	C	16: 37,812,558 (GRCm39)	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,236,507 (GRCm39)	G350D	probably damaging	Het
Ifih1	A	T	2: 62,440,902 (GRCm39)	N421K	probably benign	Het
Ilvbl	C	A	10: 78,412,564 (GRCm39)	T95K	probably damaging	Het
Itgb4	T	A	11: 115,890,625 (GRCm39)	D1104E	probably benign	Het
Katnip	C	A	7: 125,415,743 (GRCm39)		probably benign	Het
Lipf	A	T	19: 33,942,180 (GRCm39)	M37L	probably benign	Het
Lyst	T	A	13: 13,852,775 (GRCm39)	N2258K	probably benign	Het
Moxd1	A	G	10: 24,099,758 (GRCm39)	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,367,629 (GRCm39)		probably null	Het
Myo16	G	A	8: 10,610,145 (GRCm39)	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,208,092 (GRCm39)	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,240,098 (GRCm39)	F155L	probably damaging	Het
Nek4	A	T	14: 30,704,290 (GRCm39)	M602L	possibly damaging	Het
Nek9	A	G	12: 85,348,622 (GRCm39)	S971P	probably damaging	Het
Nfya	A	T	17: 48,700,570 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,547 (GRCm39)	N442I	probably damaging	Het
Nup42	A	C	5: 24,383,075 (GRCm39)	K200N	probably benign	Het
Or1e26	T	A	11: 73,480,187 (GRCm39)	I126L	possibly damaging	Het
Or4c111	G	A	2: 88,843,713 (GRCm39)	R232*	probably null	Het
Or7g32	G	A	9: 19,389,423 (GRCm39)	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,126,833 (GRCm39)	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779 (GRCm39)	P107A	probably damaging	Het
Plce1	C	T	19: 38,693,783 (GRCm39)	Q769*	probably null	Het
Plin2	C	T	4: 86,575,481 (GRCm39)	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712 (GRCm39)	E739*	probably null	Het
Ppp3cc	G	T	14: 70,478,397 (GRCm39)	N268K	probably damaging	Het
Prkag3	T	A	1: 74,779,919 (GRCm39)	D472V	probably damaging	Het
Ptch2	A	T	4: 116,968,046 (GRCm39)	D846V	probably damaging	Het
Rhob	A	T	12: 8,549,388 (GRCm39)	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,531,672 (GRCm39)	R777W	possibly damaging	Het
Sap130	T	A	18: 31,844,380 (GRCm39)	V850E	probably damaging	Het
Sema3a	T	G	5: 13,523,407 (GRCm39)	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,431 (GRCm39)	D64G	probably damaging	Het
Sgo2b	T	A	8: 64,384,507 (GRCm39)	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,728,651 (GRCm39)	Y31*	probably null	Het
Smchd1	A	T	17: 71,685,252 (GRCm39)	M1392K	probably benign	Het
Sobp	T	A	10: 43,036,827 (GRCm39)	N37I	probably damaging	Het
Spock3	G	T	8: 63,673,739 (GRCm39)	C142F	probably damaging	Het
Stx6	A	C	1: 155,053,650 (GRCm39)	S86R	probably benign	Het
Sult2a4	C	A	7: 13,643,726 (GRCm39)	M280I	probably benign	Het
Synm	A	T	7: 67,386,080 (GRCm39)	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,710,305 (GRCm39)	R195W	probably damaging	Het
Themis2	A	T	4: 132,519,796 (GRCm39)	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234 (GRCm39)	T890A	probably benign	Het
Traf7	T	A	17: 24,730,785 (GRCm39)	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,032,459 (GRCm39)	V289D	probably benign	Het
Tsr1	T	A	11: 74,792,914 (GRCm39)	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593 (GRCm39)	A33E	probably damaging	Het
Unc13d	C	A	11: 115,964,701 (GRCm39)	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,542,534 (GRCm39)	G3367*	probably null	Het
Vmn1r229	T	C	17: 21,034,791 (GRCm39)	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,177,474 (GRCm39)	G510V	probably damaging	Het
Vps4b	T	C	1: 106,707,712 (GRCm39)	E257G	probably damaging	Het
Vps72	T	C	3: 95,026,462 (GRCm39)	S136P	probably damaging	Het
Wdr36	T	C	18: 32,976,938 (GRCm39)	I181T	possibly damaging	Het
Wfikkn1	C	T	17: 26,096,765 (GRCm39)	A520T	probably benign	Het

Other mutations in Acvr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Acvr1	APN	2	58,337,585 (GRCm39)	missense	probably benign	0.00
IGL01392:Acvr1	APN	2	58,390,558 (GRCm39)	missense	probably benign	0.01
IGL01526:Acvr1	APN	2	58,348,997 (GRCm39)	missense	probably benign	0.20
IGL02524:Acvr1	APN	2	58,338,319 (GRCm39)	splice site	probably benign
IGL02682:Acvr1	APN	2	58,367,823 (GRCm39)	missense	probably benign	0.00
IGL02795:Acvr1	APN	2	58,352,964 (GRCm39)	missense	probably damaging	1.00
R0084:Acvr1	UTSW	2	58,348,895 (GRCm39)	critical splice donor site	probably null
R0452:Acvr1	UTSW	2	58,390,507 (GRCm39)	missense	probably benign	0.13
R0746:Acvr1	UTSW	2	58,390,562 (GRCm39)	start codon destroyed	probably null	0.01
R1514:Acvr1	UTSW	2	58,337,597 (GRCm39)	nonsense	probably null
R1645:Acvr1	UTSW	2	58,352,911 (GRCm39)	missense	probably damaging	1.00
R1925:Acvr1	UTSW	2	58,337,661 (GRCm39)	missense	probably damaging	0.99
R2435:Acvr1	UTSW	2	58,369,704 (GRCm39)	missense	probably damaging	1.00
R2873:Acvr1	UTSW	2	58,367,808 (GRCm39)	nonsense	probably null
R3729:Acvr1	UTSW	2	58,352,925 (GRCm39)	missense	probably null	0.09
R3854:Acvr1	UTSW	2	58,352,946 (GRCm39)	missense	probably damaging	1.00
R4438:Acvr1	UTSW	2	58,367,739 (GRCm39)	missense	probably benign	0.00
R4863:Acvr1	UTSW	2	58,367,723 (GRCm39)	missense	possibly damaging	0.60
R5543:Acvr1	UTSW	2	58,353,157 (GRCm39)	missense	probably damaging	1.00
R5558:Acvr1	UTSW	2	58,349,029 (GRCm39)	missense	probably damaging	1.00
R5618:Acvr1	UTSW	2	58,352,955 (GRCm39)	missense	probably damaging	1.00
R6233:Acvr1	UTSW	2	58,338,411 (GRCm39)	missense	probably benign	0.04
R6236:Acvr1	UTSW	2	58,367,678 (GRCm39)	missense	probably benign	0.17
R6565:Acvr1	UTSW	2	58,369,769 (GRCm39)	missense	probably damaging	1.00
R6912:Acvr1	UTSW	2	58,337,585 (GRCm39)	missense	probably benign	0.00
R7739:Acvr1	UTSW	2	58,352,983 (GRCm39)	missense	possibly damaging	0.47
R7912:Acvr1	UTSW	2	58,364,230 (GRCm39)	missense	probably damaging	0.97
R8127:Acvr1	UTSW	2	58,367,638 (GRCm39)	missense	probably benign	0.14
R8343:Acvr1	UTSW	2	58,364,286 (GRCm39)	critical splice acceptor site	probably null
R8688:Acvr1	UTSW	2	58,352,961 (GRCm39)	missense	probably damaging	0.98
R8876:Acvr1	UTSW	2	58,338,422 (GRCm39)	missense	possibly damaging	0.83
R9135:Acvr1	UTSW	2	58,352,983 (GRCm39)	missense	possibly damaging	0.47
R9290:Acvr1	UTSW	2	58,338,330 (GRCm39)	missense	probably damaging	1.00
R9562:Acvr1	UTSW	2	58,338,385 (GRCm39)	missense	probably damaging	1.00
R9565:Acvr1	UTSW	2	58,338,385 (GRCm39)	missense	probably damaging	1.00
Z1176:Acvr1	UTSW	2	58,369,880 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGATGTTCCTGTTACACCAGTCCC -3'
(R):5'- TGGATGCACAACGTAAGGCAGATAC -3'

Sequencing Primer
(F):5'- AGTCCCCTTGGCAGCAC -3'
(R):5'- CAATCTGGAGTGTAGACGCTG -3'

Posted On

2014-03-28