Mutagenetix > Incidental Mutation

Incidental Mutation 'R1925:Acvr1'

213321

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

039943-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58336450-58456840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58337661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 474 (M474V)

Ref Sequence

ENSEMBL: ENSMUSP00000108220 (fasta)

Gene Model

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

AlphaFold

P37172

Predicted Effect

probably damaging
Transcript: ENSMUST00000056376
AA Change: M474V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056784
Gene: ENSMUSG00000026836
AA Change: M474V

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: M474V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088453
Gene: ENSMUSG00000026836
AA Change: M474V

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: M474V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108218
Gene: ENSMUSG00000026836
AA Change: M474V

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: M474V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108220
Gene: ENSMUSG00000026836
AA Change: M474V

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

noncoding transcript
Transcript: ENSMUST00000145495

Meta Mutation Damage Score

0.1910

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

99% (79/80)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,617,333 (GRCm39)	H577R	probably damaging	Het
Adam1a	A	T	5: 121,657,513 (GRCm39)	C593*	probably null	Het
Agap2	A	G	10: 126,926,744 (GRCm39)	N927S	probably damaging	Het
Ahctf1	T	C	1: 179,598,218 (GRCm39)	H958R	probably damaging	Het
Apaf1	A	G	10: 90,835,581 (GRCm39)	V1088A	probably damaging	Het
Brpf1	G	T	6: 113,296,891 (GRCm39)	K958N	probably damaging	Het
Cadps	A	G	14: 12,705,726 (GRCm38)	I223T	probably damaging	Het
Catsperg2	T	C	7: 29,397,189 (GRCm39)	M1105V	probably benign	Het
Clasp2	T	A	9: 113,735,265 (GRCm39)	F1033L	possibly damaging	Het
Col4a3	T	A	1: 82,678,094 (GRCm39)	I1232N	unknown	Het
Col4a3	T	G	1: 82,689,595 (GRCm39)		probably benign	Het
Comtd1	T	G	14: 21,897,731 (GRCm39)	E134A	probably damaging	Het
Cyp2c55	A	T	19: 39,022,821 (GRCm39)	T320S	probably benign	Het
Dlx2	T	C	2: 71,376,522 (GRCm39)	N72S	probably benign	Het
Dnhd1	T	A	7: 105,301,459 (GRCm39)	V272E	probably damaging	Het
Dnhd1	T	A	7: 105,323,061 (GRCm39)	I523N	probably damaging	Het
Dpysl3	T	A	18: 43,465,996 (GRCm39)	I140F	probably damaging	Het
Elmod2	G	A	8: 84,048,093 (GRCm39)	A123V	probably benign	Het
Etv4	T	C	11: 101,662,507 (GRCm39)		probably benign	Het
F3	A	T	3: 121,523,032 (GRCm39)	T81S	probably damaging	Het
Faf2	C	T	13: 54,799,865 (GRCm39)	A224V	probably damaging	Het
Fbn1	A	T	2: 125,205,549 (GRCm39)	M1109K	probably damaging	Het
Fnbp4	A	G	2: 90,596,187 (GRCm39)	E586G	probably damaging	Het
Gm10428	G	T	11: 62,644,179 (GRCm39)		probably benign	Het
Gm5884	A	T	6: 128,622,050 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,385,319 (GRCm39)		noncoding transcript	Het
Gtse1	T	C	15: 85,757,939 (GRCm39)	V515A	probably benign	Het
H2-M2	T	C	17: 37,793,391 (GRCm39)	E205G	probably damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Il1r2	A	G	1: 40,154,308 (GRCm39)	Y225C	probably damaging	Het
Kcnq3	T	G	15: 65,876,658 (GRCm39)	D495A	possibly damaging	Het
Lrrc49	T	C	9: 60,556,773 (GRCm39)	N321D	probably benign	Het
Lztr1	G	T	16: 17,341,247 (GRCm39)	R291L	probably damaging	Het
Micu1	C	T	10: 59,568,983 (GRCm39)		probably benign	Het
Msh5	C	T	17: 35,248,928 (GRCm39)	V702I	probably benign	Het
Myh1	T	C	11: 67,101,996 (GRCm39)	I792T	probably benign	Het
Nav1	T	A	1: 135,534,967 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or11i1	C	T	3: 106,729,688 (GRCm39)	M62I	probably damaging	Het
Or5ac22	A	G	16: 59,135,027 (GRCm39)	S248P	probably damaging	Het
Or8u9	T	C	2: 86,001,354 (GRCm39)	D269G	probably benign	Het
Otof	G	C	5: 30,551,532 (GRCm39)	N340K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Plek2	T	A	12: 78,941,664 (GRCm39)	Y155F	probably damaging	Het
Ppa1	T	A	10: 61,487,388 (GRCm39)	Y38*	probably null	Het
Pramel22	T	A	4: 143,381,025 (GRCm39)	T333S	probably damaging	Het
Prmt9	T	A	8: 78,303,968 (GRCm39)	C684S	possibly damaging	Het
Rasl10a	A	G	11: 5,009,473 (GRCm39)	D87G	possibly damaging	Het
Rtn4rl1	C	A	11: 75,156,864 (GRCm39)	P432Q	probably benign	Het
Scd4	T	G	19: 44,329,823 (GRCm39)	Y265D	probably damaging	Het
Scn5a	C	T	9: 119,358,085 (GRCm39)	A719T	probably benign	Het
Sdk1	T	A	5: 142,171,040 (GRCm39)	F1968I	probably benign	Het
Sh3bp5	T	C	14: 31,157,880 (GRCm39)	E12G	probably benign	Het
Slc6a12	T	A	6: 121,337,485 (GRCm39)	F390I	probably benign	Het
Snapin	A	T	3: 90,397,539 (GRCm39)	D77E	possibly damaging	Het
Sox2	G	T	3: 34,704,820 (GRCm39)	E86*	probably null	Het
Sparcl1	A	G	5: 104,241,220 (GRCm39)	L68P	probably benign	Het
Sptb	T	A	12: 76,669,027 (GRCm39)	E562V	probably damaging	Het
Taar3	A	T	10: 23,826,483 (GRCm39)	H343L	probably benign	Het
Tanc1	T	A	2: 59,555,095 (GRCm39)	V51E	possibly damaging	Het
Tbc1d22a	T	C	15: 86,123,350 (GRCm39)	S128P	probably damaging	Het
Thada	A	G	17: 84,751,927 (GRCm39)	S350P	probably benign	Het
Tmem161b	T	C	13: 84,408,348 (GRCm39)	V93A	probably benign	Het
Tnn	T	C	1: 159,924,799 (GRCm39)	Y1185C	probably damaging	Het
Trim43a	T	C	9: 88,464,371 (GRCm39)	V94A	probably benign	Het
Ttll12	C	T	15: 83,465,976 (GRCm39)	E407K	probably benign	Het
Ttn	T	C	2: 76,555,856 (GRCm39)	E30383G	probably damaging	Het
Vmn1r29	T	A	6: 58,285,087 (GRCm39)	M269K	possibly damaging	Het
Vmn2r117	A	G	17: 23,697,363 (GRCm39)	S110P	probably benign	Het
Vmn2r6	C	A	3: 64,463,698 (GRCm39)	V290L	possibly damaging	Het
Vmn2r8	A	T	5: 108,950,019 (GRCm39)	L276Q	probably damaging	Het
Zan	C	A	5: 137,423,904 (GRCm39)	C2665F	unknown	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp983	A	G	17: 21,880,933 (GRCm39)	H287R	probably damaging	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
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'- AACCAGTCAGGCCAGCATTAG -3'
(R):5'- TAACACTCTTGACACTGGTCTC -3'

Sequencing Primer
(F):5'- AGCATTAGGTCCCAGCTGG -3'
(R):5'- TGACACTGGTCTCACATGGAC -3'

Posted On

2014-07-14