Mutagenetix > Incidental Mutation

Incidental Mutation 'R7912:Acvr1'

610559

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7912 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58336450-58456840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58364230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 200 (V200I)

Ref Sequence

ENSEMBL: ENSMUSP00000056784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056376] [ENSMUST00000090935] [ENSMUST00000112599] [ENSMUST00000112601] [ENSMUST00000126407] [ENSMUST00000167423]

AlphaFold

P37172

Predicted Effect

probably damaging
Transcript: ENSMUST00000056376
AA Change: V200I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056784
Gene: ENSMUSG00000026836
AA Change: V200I

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: ENSMUST00000090935
AA Change: V200I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088453
Gene: ENSMUSG00000026836
AA Change: V200I

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: ENSMUST00000112599
AA Change: V200I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108218
Gene: ENSMUSG00000026836
AA Change: V200I

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

probably damaging
Transcript: ENSMUST00000112601
AA Change: V200I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108220
Gene: ENSMUSG00000026836
AA Change: V200I

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

probably benign
Transcript: ENSMUST00000167423

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,451 (GRCm39)	T403A	probably benign	Het
Aco1	T	C	4: 40,184,983 (GRCm39)	L551S	probably damaging	Het
Adam26b	T	A	8: 43,973,245 (GRCm39)	T586S	probably benign	Het
Ahctf1	T	C	1: 179,580,656 (GRCm39)	R1849G	probably benign	Het
Alox5	T	A	6: 116,389,497 (GRCm39)	D590V	probably benign	Het
Anapc5	A	G	5: 122,931,498 (GRCm39)		probably null	Het
Anln	T	C	9: 22,269,965 (GRCm39)	E743G	possibly damaging	Het
Anpep	T	C	7: 79,488,174 (GRCm39)	K496R	probably benign	Het
Aox3	T	A	1: 58,181,855 (GRCm39)	S281T	probably benign	Het
Arhgef11	C	A	3: 87,640,529 (GRCm39)	P1258T	probably damaging	Het
Atp2c2	A	T	8: 120,456,917 (GRCm39)	D173V	possibly damaging	Het
Aurka	T	G	2: 172,210,949 (GRCm39)	D22A	probably benign	Het
B3gat1	A	T	9: 26,666,882 (GRCm39)	D51V	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCAC	3: 95,795,483 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,466 (GRCm39)		probably benign	Het
BC028528	TTC	TTCGGTGGTCACTGGCTC	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	3: 95,795,454 (GRCm39)		probably benign	Het
BC028528	CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	3: 95,795,452 (GRCm39)		probably benign	Het
BC028528	CACTG	CACTGATTCTGTGGTGACTG	3: 95,795,450 (GRCm39)		probably benign	Het
Bcas3	G	A	11: 85,261,954 (GRCm39)	G96S	probably damaging	Het
Bltp1	C	T	3: 37,061,218 (GRCm39)	A3309V	probably damaging	Het
C2cd4d	T	A	3: 94,270,860 (GRCm39)	V42D	probably damaging	Het
Ccdc127	T	C	13: 74,505,151 (GRCm39)	L233P	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,578 (GRCm39)	K573E	probably damaging	Het
Cend1	T	C	7: 141,007,544 (GRCm39)	D92G	probably damaging	Het
Crb1	T	C	1: 139,170,909 (GRCm39)	D827G	probably damaging	Het
Cyld	G	T	8: 89,461,525 (GRCm39)	C654F	probably damaging	Het
Fastkd5	C	T	2: 130,458,557 (GRCm39)	G11D	probably damaging	Het
Foxj3	A	T	4: 119,477,252 (GRCm39)	N354I	possibly damaging	Het
Gimap8	G	T	6: 48,627,999 (GRCm39)	C252F	probably benign	Het
Glra1	T	C	11: 55,411,821 (GRCm39)	Y329C	probably damaging	Het
Gm10330	G	A	12: 23,829,980 (GRCm39)	P67L	probably benign	Het
Gpm6a	T	C	8: 55,508,469 (GRCm39)	I226T	possibly damaging	Het
Gstt2	A	G	10: 75,668,418 (GRCm39)	F121S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,310,311 (GRCm39)	F3302L	probably benign	Het
Hormad2	T	C	11: 4,358,841 (GRCm39)	T189A	probably damaging	Het
Hps5	A	T	7: 46,418,826 (GRCm39)	S815T	probably benign	Het
Hydin	G	T	8: 111,282,239 (GRCm39)	R3113L	possibly damaging	Het
Inava	A	G	1: 136,155,279 (GRCm39)	S109P	probably benign	Het
Inpp5f	T	A	7: 128,294,037 (GRCm39)	C698S	probably benign	Het
Irs1	T	G	1: 82,267,605 (GRCm39)	M204L	probably benign	Het
Itfg1	T	C	8: 86,490,909 (GRCm39)	D340G	probably damaging	Het
Itm2c	T	A	1: 85,833,032 (GRCm39)	I122N	probably damaging	Het
Lamp3	T	A	16: 19,474,247 (GRCm39)	T376S	probably damaging	Het
Lrba	T	A	3: 86,622,872 (GRCm39)	I2418N	probably damaging	Het
Lrcol1	T	A	5: 110,502,715 (GRCm39)	V161D	probably damaging	Het
Lrp2	T	A	2: 69,259,016 (GRCm39)	Q4558L	probably benign	Het
Lrrfip2	A	T	9: 111,034,836 (GRCm39)	Q175L	probably damaging	Het
Mib1	T	G	18: 10,778,187 (GRCm39)	S572R	probably damaging	Het
Mis18bp1	A	T	12: 65,199,532 (GRCm39)	D456E	possibly damaging	Het
Mlh1	T	A	9: 111,090,581 (GRCm39)	T116S	possibly damaging	Het
Mpp4	T	C	1: 59,160,521 (GRCm39)	N594S	probably damaging	Het
Nbas	A	G	12: 13,455,458 (GRCm39)	E1224G	possibly damaging	Het
Neb	T	C	2: 52,110,997 (GRCm39)	D163G	possibly damaging	Het
Nectin4	T	C	1: 171,207,941 (GRCm39)	V111A	possibly damaging	Het
Nfatc2ip	G	A	7: 125,989,617 (GRCm39)	R256*	probably null	Het
Nlgn2	G	A	11: 69,716,760 (GRCm39)	R594C	probably damaging	Het
Nufip1	A	G	14: 76,352,442 (GRCm39)	S198G	possibly damaging	Het
Or2n1	T	C	17: 38,486,158 (GRCm39)	F61S	probably damaging	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or8b49	T	C	9: 38,506,446 (GRCm39)	F310L	probably benign	Het
Or8s8	C	T	15: 98,354,574 (GRCm39)	H128Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,896 (GRCm39)	M317I	probably benign	Het
Phactr1	A	T	13: 42,863,239 (GRCm39)	I55L	probably benign	Het
Prl3c1	G	A	13: 27,383,367 (GRCm39)	R31Q	probably benign	Het
Prss55	A	T	14: 64,319,180 (GRCm39)	F59Y	possibly damaging	Het
Ptprb	T	C	10: 116,158,392 (GRCm39)	W488R	probably damaging	Het
Qrich2	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	11: 116,346,608 (GRCm39)		probably benign	Het
Ros1	G	T	10: 52,044,791 (GRCm39)	T172K	probably damaging	Het
Rtel1	C	T	2: 180,997,869 (GRCm39)	R1206W	possibly damaging	Het
Slf2	A	T	19: 44,930,682 (GRCm39)	K586N	probably damaging	Het
Smc2	T	A	4: 52,450,854 (GRCm39)	M224K	probably benign	Het
Spata31d1e	A	T	13: 59,890,329 (GRCm39)	I497K	probably damaging	Het
Spinkl	T	C	18: 44,299,716 (GRCm39)	Y83C	probably damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
St13	T	C	15: 81,283,719 (GRCm39)	E26G	possibly damaging	Het
Teddm3	T	A	16: 20,971,699 (GRCm39)	Q290L	probably benign	Het
Tfec	C	A	6: 16,840,467 (GRCm39)		probably null	Het
Trank1	C	A	9: 111,220,596 (GRCm39)	D2444E	probably benign	Het
Ttc17	T	A	2: 94,209,166 (GRCm39)	N96I	probably damaging	Het
Ttn	T	C	2: 76,560,130 (GRCm39)	T29424A	possibly damaging	Het
Tut7	C	A	13: 59,946,819 (GRCm39)	Q1003H	probably damaging	Het
Vmn1r68	G	A	7: 10,261,237 (GRCm39)	T287I	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r92	A	T	17: 18,404,970 (GRCm39)	T705S	possibly damaging	Het
Vps13d	T	C	4: 144,899,697 (GRCm39)	D200G		Het
Wdr48	G	A	9: 119,733,405 (GRCm39)	C84Y	probably damaging	Het
Zscan25	T	A	5: 145,227,321 (GRCm39)	H328Q	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
R1484:Acvr1	UTSW	2	58,369,901 (GRCm39)	missense	probably damaging	1.00
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
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'- TCAGCAAGCTCTCAACCGTG -3'
(R):5'- GGTCACATGTCCAGAGTTGCTG -3'

Sequencing Primer
(F):5'- ACATGGTTGCTTGGCACC -3'
(R):5'- CTGGAAATCCTGTGGGTTCCC -3'

Posted On

2019-12-20