Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Acvr1'

374622

Institutional Source

Beutler Lab

Gene Symbol

Acvr1

Ensembl Gene

ENSMUSG00000026836

Gene Name

activin A receptor, type 1

Synonyms

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

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58388644-58567157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58477711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 146 (L146P)

Ref Sequence

ENSEMBL: ENSMUSP00000108220 (fasta)

Gene Model

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

AlphaFold

P37172

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056376
AA Change: L146P

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056784
Gene: ENSMUSG00000026836
AA Change: L146P

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: L146P

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088453
Gene: ENSMUSG00000026836
AA Change: L146P

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: L146P

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108218
Gene: ENSMUSG00000026836
AA Change: L146P

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: L146P

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108220
Gene: ENSMUSG00000026836
AA Change: L146P

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 benign
Transcript: ENSMUST00000126407

SMART Domains

Protein: ENSMUSP00000120755
Gene: ENSMUSG00000026836

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

0.5653

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,512 (GRCm38)		probably null	Het
4930578I06Rik	C	T	14: 63,973,209 (GRCm38)	R190H	probably benign	Het
A530032D15Rik	C	T	1: 85,088,800 (GRCm38)		probably benign	Het
Abcc12	T	A	8: 86,538,376 (GRCm38)	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172 (GRCm38)	W384L	probably damaging	Het
Ankrd16	T	A	2: 11,784,316 (GRCm38)	M238K	probably benign	Het
BC005561	A	T	5: 104,517,750 (GRCm38)	D46V	possibly damaging	Het
Cd3eap	T	A	7: 19,357,759 (GRCm38)	Q141L	probably damaging	Het
Clmn	A	T	12: 104,797,094 (GRCm38)	I91N	probably damaging	Het
Cog8	A	T	8: 107,050,174 (GRCm38)	L523H	probably damaging	Het
Cpxm2	T	A	7: 132,059,747 (GRCm38)	K437M	probably benign	Het
Dhx57	A	T	17: 80,253,111 (GRCm38)	V999E	probably damaging	Het
Dnpep	T	C	1: 75,309,230 (GRCm38)		probably benign	Het
Dok3	G	A	13: 55,523,457 (GRCm38)	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,784,343 (GRCm38)	H275Y	probably benign	Het
Ednra	A	T	8: 77,667,383 (GRCm38)	N361K	probably damaging	Het
Ei24	A	T	9: 36,784,565 (GRCm38)	S210R	probably damaging	Het
Erich3	T	A	3: 154,764,804 (GRCm38)	V158E	unknown	Het
Fam193a	T	A	5: 34,466,205 (GRCm38)	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,808,828 (GRCm38)	V2304A	probably damaging	Het
Fcgbp	A	C	7: 28,086,344 (GRCm38)	D402A	probably benign	Het
Fkbp14	T	C	6: 54,585,945 (GRCm38)		probably benign	Het
Fnip1	G	A	11: 54,515,556 (GRCm38)	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,552,964 (GRCm38)	K289R	probably null	Het
Fuca2	A	T	10: 13,505,907 (GRCm38)	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,810,970 (GRCm38)	V116A	probably benign	Het
Gm10770	T	A	2: 150,178,896 (GRCm38)	K234*	probably null	Het
Gm9887	A	G	12: 69,371,989 (GRCm38)		probably benign	Het
Gtf3c2	A	G	5: 31,159,233 (GRCm38)		probably benign	Het
H2-M10.3	T	C	17: 36,366,636 (GRCm38)	D250G	probably damaging	Het
Hapln4	G	A	8: 70,084,492 (GRCm38)	V26M	possibly damaging	Het
Hook3	G	A	8: 26,038,029 (GRCm38)	A611V	probably damaging	Het
Hr	T	C	14: 70,571,972 (GRCm38)	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,609,416 (GRCm38)	S388P	probably damaging	Het
Itga3	T	A	11: 95,061,967 (GRCm38)	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,665,520 (GRCm38)	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,401,946 (GRCm38)	S132P	probably damaging	Het
Lama3	T	C	18: 12,498,678 (GRCm38)		probably benign	Het
Lama3	C	T	18: 12,539,793 (GRCm38)	A2481V	probably damaging	Het
Lce1e	A	T	3: 92,707,871 (GRCm38)	C56*	probably null	Het
Lmcd1	T	C	6: 112,287,871 (GRCm38)		probably benign	Het
Lrrc14	T	A	15: 76,713,362 (GRCm38)		probably null	Het
Map4k5	G	A	12: 69,818,438 (GRCm38)	P591L	probably benign	Het
Mapk13	C	A	17: 28,776,310 (GRCm38)	D168E	probably damaging	Het
Marf1	A	C	16: 14,132,665 (GRCm38)	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,254,281 (GRCm38)		probably null	Het
Mical3	T	C	6: 121,033,787 (GRCm38)	I411M	probably damaging	Het
Myo5a	A	T	9: 75,217,507 (GRCm38)	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,808,130 (GRCm38)	V1174A	probably benign	Het
Ncdn	A	T	4: 126,750,423 (GRCm38)	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,392,638 (GRCm38)	M408L	possibly damaging	Het
Nf1	T	C	11: 79,409,409 (GRCm38)	L249P	probably damaging	Het
Nlrp9b	T	A	7: 20,049,596 (GRCm38)		probably null	Het
Nxpe3	A	T	16: 55,849,633 (GRCm38)	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,341,568 (GRCm38)	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,499,108 (GRCm38)	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,768,281 (GRCm38)	L722P	probably benign	Het
Pde6a	A	T	18: 61,245,592 (GRCm38)	I329F	probably damaging	Het
Pdpr	T	A	8: 111,101,951 (GRCm38)	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,486,312 (GRCm38)	D173G	probably benign	Het
Plcd4	A	G	1: 74,565,802 (GRCm38)		probably null	Het
Pou2f2	A	G	7: 25,097,108 (GRCm38)		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,366,702 (GRCm38)		probably benign	Het
Ppp1r42	T	C	1: 10,003,386 (GRCm38)		probably benign	Het
Ptpre	C	T	7: 135,669,132 (GRCm38)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rab12	A	T	17: 66,498,108 (GRCm38)	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,470 (GRCm38)	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,492,421 (GRCm38)	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,103,911 (GRCm38)	K6*	probably null	Het
Rasgef1a	A	G	6: 118,089,139 (GRCm38)	M438V	probably benign	Het
Recql	T	G	6: 142,359,006 (GRCm38)		probably benign	Het
Rftn2	A	G	1: 55,172,039 (GRCm38)	V425A	probably benign	Het
Ror1	A	G	4: 100,409,804 (GRCm38)	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,806,054 (GRCm38)	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,320,002 (GRCm38)	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,690,980 (GRCm38)	I268R	probably damaging	Het
Sin3b	G	A	8: 72,744,948 (GRCm38)	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,412,654 (GRCm38)	M203T	possibly damaging	Het
Soat1	T	C	1: 156,432,328 (GRCm38)	N481S	probably damaging	Het
Sos2	G	A	12: 69,640,154 (GRCm38)	T206I	probably benign	Het
Sp100	G	T	1: 85,705,003 (GRCm38)	A132S	probably benign	Het
Spata31d1c	T	A	13: 65,035,790 (GRCm38)	L382*	probably null	Het
Stard9	T	A	2: 120,700,860 (GRCm38)	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,435,390 (GRCm38)	T286A	probably benign	Het
Tedc2	T	A	17: 24,217,936 (GRCm38)	K275M	probably damaging	Het
Ten1	A	T	11: 116,218,231 (GRCm38)	K242N	probably benign	Het
Tial1	C	T	7: 128,455,028 (GRCm38)	V1I	probably damaging	Het
Tle2	G	A	10: 81,588,891 (GRCm38)	R649H	possibly damaging	Het
Tmem178	A	G	17: 80,944,945 (GRCm38)	D86G	probably benign	Het
Trim29	T	A	9: 43,329,575 (GRCm38)	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 42,300,708 (GRCm38)	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,750,598 (GRCm38)	Q414H	possibly damaging	Het
Yars	A	T	4: 129,189,882 (GRCm38)		probably benign	Het
Yipf4	A	G	17: 74,494,092 (GRCm38)	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,645,866 (GRCm38)		probably benign	Het
Zfp426	T	C	9: 20,470,038 (GRCm38)	Y536C	probably damaging	Het
Zp2	T	G	7: 120,135,772 (GRCm38)	Y430S	probably damaging	Het

Other mutations in Acvr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Acvr1	APN	2	58,447,573 (GRCm38)	missense	probably benign	0.00
IGL01392:Acvr1	APN	2	58,500,546 (GRCm38)	missense	probably benign	0.01
IGL01526:Acvr1	APN	2	58,458,985 (GRCm38)	missense	probably benign	0.20
IGL02524:Acvr1	APN	2	58,448,307 (GRCm38)	splice site	probably benign
IGL02682:Acvr1	APN	2	58,477,811 (GRCm38)	missense	probably benign	0.00
IGL02795:Acvr1	APN	2	58,462,952 (GRCm38)	missense	probably damaging	1.00
R0084:Acvr1	UTSW	2	58,458,883 (GRCm38)	critical splice donor site	probably null
R0452:Acvr1	UTSW	2	58,500,495 (GRCm38)	missense	probably benign	0.13
R0746:Acvr1	UTSW	2	58,500,550 (GRCm38)	start codon destroyed	probably null	0.01
R1484:Acvr1	UTSW	2	58,479,889 (GRCm38)	missense	probably damaging	1.00
R1514:Acvr1	UTSW	2	58,447,585 (GRCm38)	nonsense	probably null
R1645:Acvr1	UTSW	2	58,462,899 (GRCm38)	missense	probably damaging	1.00
R1925:Acvr1	UTSW	2	58,447,649 (GRCm38)	missense	probably damaging	0.99
R2435:Acvr1	UTSW	2	58,479,692 (GRCm38)	missense	probably damaging	1.00
R2873:Acvr1	UTSW	2	58,477,796 (GRCm38)	nonsense	probably null
R3729:Acvr1	UTSW	2	58,462,913 (GRCm38)	missense	probably null	0.09
R3854:Acvr1	UTSW	2	58,462,934 (GRCm38)	missense	probably damaging	1.00
R4438:Acvr1	UTSW	2	58,477,727 (GRCm38)	missense	probably benign	0.00
R5543:Acvr1	UTSW	2	58,463,145 (GRCm38)	missense	probably damaging	1.00
R5558:Acvr1	UTSW	2	58,459,017 (GRCm38)	missense	probably damaging	1.00
R5618:Acvr1	UTSW	2	58,462,943 (GRCm38)	missense	probably damaging	1.00
R6233:Acvr1	UTSW	2	58,448,399 (GRCm38)	missense	probably benign	0.04
R6236:Acvr1	UTSW	2	58,477,666 (GRCm38)	missense	probably benign	0.17
R6565:Acvr1	UTSW	2	58,479,757 (GRCm38)	missense	probably damaging	1.00
R6912:Acvr1	UTSW	2	58,447,573 (GRCm38)	missense	probably benign	0.00
R7739:Acvr1	UTSW	2	58,462,971 (GRCm38)	missense	possibly damaging	0.47
R7912:Acvr1	UTSW	2	58,474,218 (GRCm38)	missense	probably damaging	0.97
R8127:Acvr1	UTSW	2	58,477,626 (GRCm38)	missense	probably benign	0.14
R8343:Acvr1	UTSW	2	58,474,274 (GRCm38)	critical splice acceptor site	probably null
R8688:Acvr1	UTSW	2	58,462,949 (GRCm38)	missense	probably damaging	0.98
R8876:Acvr1	UTSW	2	58,448,410 (GRCm38)	missense	possibly damaging	0.83
R9135:Acvr1	UTSW	2	58,462,971 (GRCm38)	missense	possibly damaging	0.47
R9290:Acvr1	UTSW	2	58,448,318 (GRCm38)	missense	probably damaging	1.00
R9562:Acvr1	UTSW	2	58,448,373 (GRCm38)	missense	probably damaging	1.00
R9565:Acvr1	UTSW	2	58,448,373 (GRCm38)	missense	probably damaging	1.00
Z1176:Acvr1	UTSW	2	58,479,868 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATGTCTGCATAGTCATTGTTGGC -3'
(R):5'- TCGGGATCAGGAGCCATTAC -3'

Sequencing Primer
(F):5'- GTTGGCTTTGCACATTCAAAAC -3'
(R):5'- CAGGAGCCATTACCTAAGATATTGG -3'

Posted On

2016-03-17