Incidental Mutation 'IGL01551:Acvr2a'
ID93260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acvr2a
Ensembl Gene ENSMUSG00000052155
Gene Nameactivin receptor IIA
SynonymsActRIIa, Acvr2, tActRII
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01551
Quality Score
Status
Chromosome2
Chromosomal Location48814109-48903269 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 48897059 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 389 (A389T)
Ref Sequence ENSEMBL: ENSMUSP00000067305 (fasta)
Gene Model predicted gene model for transcript(s): [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 damaging
Transcript: ENSMUST00000063886
AA Change: A389T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: A389T

DomainStartEndE-ValueType
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 79,088,313 S103L possibly damaging Het
Adamts9 A G 6: 92,807,020 S1037P probably damaging Het
Adcyap1 A G 17: 93,204,018 Y140C probably damaging Het
Ampd3 A G 7: 110,804,976 N569S probably damaging Het
Bin1 G T 18: 32,377,458 V18L probably benign Het
Ccdc158 A G 5: 92,666,761 Y69H probably damaging Het
Ccdc70 A G 8: 21,973,595 R134G possibly damaging Het
Cmtm2a A G 8: 104,292,654 V101A probably damaging Het
Edar T C 10: 58,606,038 probably benign Het
Gcc2 T C 10: 58,298,869 probably benign Het
Gm10961 A G 3: 107,632,965 probably benign Het
Gm13088 T C 4: 143,656,472 N59S probably damaging Het
Hsd3b3 T C 3: 98,741,900 D369G probably benign Het
Ifi202b T A 1: 173,971,362 K373N probably benign Het
Khk C A 5: 30,924,845 H67N probably benign Het
Kif7 T A 7: 79,710,566 probably null Het
Mbd1 C T 18: 74,269,543 probably benign Het
Mtor A G 4: 148,472,037 H968R probably damaging Het
Nadk A G 4: 155,588,700 probably benign Het
Olfr1168 A T 2: 88,185,285 H136L probably benign Het
Olfr38 A G 6: 42,762,112 D20G probably damaging Het
Olfr743 A G 14: 50,534,161 T250A probably benign Het
Otol1 T C 3: 70,027,724 F350L probably damaging Het
Prkcg G A 7: 3,303,826 probably benign Het
Rps6kc1 A T 1: 190,773,640 S1042T possibly damaging Het
Rtn1 C T 12: 72,216,935 V741I possibly damaging Het
Tor2a T A 2: 32,760,583 probably benign Het
Vmn1r177 T C 7: 23,866,263 I63V probably benign Het
Vmn2r58 T A 7: 41,865,279 I89F probably damaging Het
Xirp2 A G 2: 67,513,505 D2030G probably benign Het
Zfp326 T C 5: 105,888,585 S121P probably damaging Het
Other mutations in Acvr2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Acvr2a APN 2 48873052 splice site probably benign
IGL01913:Acvr2a APN 2 48899613 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 On2013-12-09