Incidental Mutation 'R0864:Acvr2a'
ID 82239
Institutional Source Beutler Lab
Gene Symbol Acvr2a
Ensembl Gene ENSMUSG00000052155
Gene Name activin receptor IIA
Synonyms Acvr2, ActRIIa, tActRII
MMRRC Submission 039038-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0864 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 48704121-48793276 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 48784798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000067305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063886]
AlphaFold P27038
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: ENSMUST00000063886
SMART Domains Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155

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
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 97.3%
  • 20x: 93.8%
Validation Efficiency 93% (39/42)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx4 A G 2: 93,473,200 (GRCm39) Y66C probably damaging Het
Apol7e T A 15: 77,601,993 (GRCm39) V197E probably damaging Het
Chac1 C A 2: 119,183,950 (GRCm39) A184E probably damaging Het
Clmn G A 12: 104,756,274 (GRCm39) T192I possibly damaging Het
Csmd1 T A 8: 16,240,040 (GRCm39) Y1124F probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
D430041D05Rik G A 2: 104,060,773 (GRCm39) P1374S possibly damaging Het
Dyrk4 T C 6: 126,854,296 (GRCm39) E499G possibly damaging Het
Fat1 T A 8: 45,471,074 (GRCm39) I1603N probably damaging Het
Fbn1 A T 2: 125,184,811 (GRCm39) C1660* probably null Het
Gapt G C 13: 110,490,273 (GRCm39) T130R probably damaging Het
Hpn T C 7: 30,808,426 (GRCm39) I41V probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Map4 A G 9: 109,808,037 (GRCm39) Y34C probably damaging Het
Mapk8 C T 14: 33,114,949 (GRCm39) R189H probably damaging Het
Mprip T C 11: 59,649,587 (GRCm39) V1097A probably benign Het
Msh2 A G 17: 87,987,480 (GRCm39) T207A probably benign Het
Muc4 A G 16: 32,570,820 (GRCm39) S627G probably benign Het
Nbeal2 G A 9: 110,457,263 (GRCm39) T2266I probably damaging Het
Pdcd6ip A T 9: 113,503,578 (GRCm39) probably benign Het
Pdk2 A G 11: 94,918,759 (GRCm39) Y339H probably damaging Het
Piwil2 T C 14: 70,632,823 (GRCm39) D583G probably benign Het
Plin4 T A 17: 56,410,966 (GRCm39) M1022L probably benign Het
Pmpca G A 2: 26,283,221 (GRCm39) probably null Het
Rbbp4 G T 4: 129,214,344 (GRCm39) probably benign Het
Rbbp8 G A 18: 11,865,241 (GRCm39) probably benign Het
Rbms3 A T 9: 117,458,860 (GRCm39) probably benign Het
Snx14 A T 9: 88,266,049 (GRCm39) S726T possibly damaging Het
Supt4a T A 11: 87,633,913 (GRCm39) S88T probably benign Het
Tmem245 G T 4: 56,890,837 (GRCm39) H321Q probably damaging Het
Trim43c A T 9: 88,725,087 (GRCm39) H202L probably benign Het
Trip12 A G 1: 84,721,730 (GRCm39) F1334S probably damaging Het
Vmn1r36 T C 6: 66,693,840 (GRCm39) T12A probably null Het
Ywhae T G 11: 75,650,256 (GRCm39) probably null Het
Zc3h4 T A 7: 16,154,104 (GRCm39) S131T probably damaging Het
Zfp280b C T 10: 75,874,139 (GRCm39) T6M probably benign Het
Other mutations in Acvr2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Acvr2a APN 2 48,763,064 (GRCm39) splice site probably benign
IGL01551:Acvr2a APN 2 48,787,071 (GRCm39) missense probably damaging 1.00
IGL01913:Acvr2a APN 2 48,789,625 (GRCm39) missense probably damaging 1.00
IGL02100:Acvr2a APN 2 48,788,630 (GRCm39) splice site probably benign
IGL02210:Acvr2a APN 2 48,788,538 (GRCm39) missense probably damaging 0.99
R1371:Acvr2a UTSW 2 48,789,628 (GRCm39) missense probably damaging 1.00
R1676:Acvr2a UTSW 2 48,763,095 (GRCm39) missense probably benign 0.00
R2196:Acvr2a UTSW 2 48,760,324 (GRCm39) missense possibly damaging 0.94
R2876:Acvr2a UTSW 2 48,782,190 (GRCm39) missense probably damaging 1.00
R3721:Acvr2a UTSW 2 48,782,150 (GRCm39) missense probably damaging 1.00
R3763:Acvr2a UTSW 2 48,760,331 (GRCm39) missense possibly damaging 0.87
R4401:Acvr2a UTSW 2 48,789,714 (GRCm39) missense probably benign
R4724:Acvr2a UTSW 2 48,760,447 (GRCm39) missense probably damaging 1.00
R4921:Acvr2a UTSW 2 48,783,553 (GRCm39) missense possibly damaging 0.51
R5060:Acvr2a UTSW 2 48,780,311 (GRCm39) missense probably damaging 0.96
R5347:Acvr2a UTSW 2 48,782,166 (GRCm39) missense probably damaging 1.00
R5953:Acvr2a UTSW 2 48,780,416 (GRCm39) missense probably damaging 1.00
R6892:Acvr2a UTSW 2 48,787,087 (GRCm39) missense probably damaging 1.00
R7594:Acvr2a UTSW 2 48,784,749 (GRCm39) nonsense probably null
R7876:Acvr2a UTSW 2 48,760,439 (GRCm39) missense probably benign 0.01
R8123:Acvr2a UTSW 2 48,763,384 (GRCm39) missense probably damaging 0.99
R8296:Acvr2a UTSW 2 48,789,736 (GRCm39) missense possibly damaging 0.95
R8868:Acvr2a UTSW 2 48,763,469 (GRCm39) missense probably benign 0.00
R9034:Acvr2a UTSW 2 48,763,381 (GRCm39) missense probably damaging 1.00
R9181:Acvr2a UTSW 2 48,760,307 (GRCm39) missense probably damaging 0.99
Z1088:Acvr2a UTSW 2 48,760,385 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCAGATGAGGCACTCTTCTTTGCTC -3'
(R):5'- AGTGACCCATTACCCTCCACTATTAGG -3'

Sequencing Primer
(F):5'- GGGACATCAAAAGTAAAAATGTGCT -3'
(R):5'- ACCCTCCACTATTAGGGTGATG -3'
Posted On 2013-11-08