Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01913:Acvr2a'

179865

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acvr2a

Ensembl Gene

ENSMUSG00000052155

Gene Name

activin receptor IIA

Synonyms

ActRIIa, Acvr2, tActRII

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01913

Quality Score

Status

Chromosome

Chromosomal Location

48814109-48903269 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48899613 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 456 (E456G)

Ref Sequence

ENSEMBL: ENSMUSP00000067305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028098] [ENSMUST00000063886]

PDB Structure

CRYSTAL STRUCTURE OF THE EXTRACELLULAR DOMAIN OF THE TYPE II ACTIVIN RECEPTOR [X-RAY DIFFRACTION]
Crystal Structure of the BMP7/ActRII Extracellular Domain Complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028098

SMART Domains

Protein: ENSMUSP00000028098
Gene: ENSMUSG00000026761

Domain	Start	End	E-Value	Type
AAA	57	199	2.75e-5	SMART
Pfam:ORC4_C	225	413	1.3e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000063886
AA Change: E456G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: E456G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Activin_recp	28	118	5e-10	PFAM
transmembrane domain	139	161	N/A	INTRINSIC
Pfam:Pkinase_Tyr	192	479	1.2e-31	PFAM
Pfam:Pkinase	196	481	7.6e-34	PFAM
low complexity region	486	502	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156681

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
PHENOTYPE: While most mice homozygous for targeted mutations that inactivate this gene appear normal, a few display skeletal and facial abnormalities. As adults, follicle-stimulating hormone is suppressed, affecting reproduction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 9,006,064	K1571*	probably null	Het
Arhgef2	G	A	3: 88,631,919	V58M	probably damaging	Het
Ash2l	A	G	8: 25,819,624		probably null	Het
C3	T	C	17: 57,213,767	N1163S	probably null	Het
Cbfa2t2	A	G	2: 154,517,773	T253A	probably damaging	Het
Dnah5	T	C	15: 28,313,753	V1905A	possibly damaging	Het
Dsg1a	C	T	18: 20,322,236	R86C	probably damaging	Het
Fastkd1	A	T	2: 69,708,501		probably benign	Het
Fat3	T	C	9: 15,998,790	D1972G	probably damaging	Het
Fxyd5	T	C	7: 31,035,212	T163A	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
H6pd	A	T	4: 149,994,463		probably benign	Het
Klhdc2	T	G	12: 69,302,358	S90A	probably benign	Het
Lcn2	A	G	2: 32,387,145	V139A	possibly damaging	Het
Nup205	A	G	6: 35,227,430	E1417G	probably benign	Het
Olfr1102	A	T	2: 87,002,820	M284L	possibly damaging	Het
Olfr1250	T	G	2: 89,657,340	I34L	probably benign	Het
Olfr209	A	T	16: 59,361,931	C96S	probably damaging	Het
Pcdh18	C	A	3: 49,755,249	S539I	possibly damaging	Het
Stat1	T	C	1: 52,126,557	I104T	probably benign	Het
Tmem151a	G	A	19: 5,081,892	R429C	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdpcp	A	G	11: 21,748,931	D570G	probably damaging	Het
Zfp429	T	C	13: 67,396,674	Y27C	probably damaging	Het
Zfp462	T	C	4: 55,012,138	V1368A	probably benign	Het
Zfp651	T	C	9: 121,763,969	C452R	probably damaging	Het

Other mutations in Acvr2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00756:Acvr2a	APN	2	48873052	splice site	probably benign
IGL01551:Acvr2a	APN	2	48897059	missense	probably damaging	1.00
IGL02100:Acvr2a	APN	2	48898618	splice site	probably benign
IGL02210:Acvr2a	APN	2	48898526	missense	probably damaging	0.99
R0864:Acvr2a	UTSW	2	48894786	splice site	probably benign
R1371:Acvr2a	UTSW	2	48899616	missense	probably damaging	1.00
R1676:Acvr2a	UTSW	2	48873083	missense	probably benign	0.00
R2196:Acvr2a	UTSW	2	48870312	missense	possibly damaging	0.94
R2876:Acvr2a	UTSW	2	48892178	missense	probably damaging	1.00
R3721:Acvr2a	UTSW	2	48892138	missense	probably damaging	1.00
R3763:Acvr2a	UTSW	2	48870319	missense	possibly damaging	0.87
R4401:Acvr2a	UTSW	2	48899702	missense	probably benign
R4724:Acvr2a	UTSW	2	48870435	missense	probably damaging	1.00
R4921:Acvr2a	UTSW	2	48893541	missense	possibly damaging	0.51
R5060:Acvr2a	UTSW	2	48890299	missense	probably damaging	0.96
R5347:Acvr2a	UTSW	2	48892154	missense	probably damaging	1.00
R5953:Acvr2a	UTSW	2	48890404	missense	probably damaging	1.00
R6892:Acvr2a	UTSW	2	48897075	missense	probably damaging	1.00
R7594:Acvr2a	UTSW	2	48894737	nonsense	probably null
R7876:Acvr2a	UTSW	2	48870427	missense	probably benign	0.01
R7959:Acvr2a	UTSW	2	48870427	missense	probably benign	0.01
Z1088:Acvr2a	UTSW	2	48870373	missense	probably benign	0.01

Posted On

2014-05-07