Incidental Mutation 'IGL01913:Acvr2a'
ID179865
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 #IGL01913
Quality Score
Status
Chromosome2
Chromosomal Location48814109-48903269 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48899613 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Z1088:Acvr2a UTSW 2 48870373 missense probably benign 0.01
Posted On2014-05-07