Incidental Mutation 'R5953:Acvr2a'
ID 470983
Institutional Source Beutler Lab
Gene Symbol Acvr2a
Ensembl Gene ENSMUSG00000052155
Gene Name activin receptor IIA
Synonyms Acvr2, ActRIIa, tActRII
MMRRC Submission 043245-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5953 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 48704121-48793276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48780416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 212 (L212P)
Ref Sequence ENSEMBL: ENSMUSP00000067305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063886]
AlphaFold P27038
Crystal Structure of the BMP7/ActRII Extracellular Domain Complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000063886
AA Change: L212P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: L212P

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,960,241 (GRCm39) S675T probably damaging Het
Adamts14 T C 10: 61,043,225 (GRCm39) T751A probably damaging Het
Adgrf2 T C 17: 43,021,229 (GRCm39) N532D probably damaging Het
Asns T C 6: 7,682,285 (GRCm39) E220G probably benign Het
Cd209d A T 8: 3,927,979 (GRCm39) probably null Het
Cenpp T C 13: 49,806,161 (GRCm39) D2G probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Clec4a3 G T 6: 122,946,451 (GRCm39) V232L probably benign Het
Cntln C T 4: 84,968,156 (GRCm39) H792Y possibly damaging Het
Cobl T A 11: 12,206,220 (GRCm39) T470S probably benign Het
Cym T A 3: 107,120,783 (GRCm39) D274V probably damaging Het
Elac2 G A 11: 64,890,049 (GRCm39) C627Y probably benign Het
Emc7 T A 2: 112,289,903 (GRCm39) I111N probably damaging Het
Eya4 T A 10: 23,027,871 (GRCm39) Y310F probably damaging Het
Fam217b C T 2: 178,062,153 (GRCm39) S39F probably damaging Het
Fam234b G T 6: 135,202,705 (GRCm39) R353L possibly damaging Het
Focad A G 4: 88,147,572 (GRCm39) I404V probably benign Het
Il1rl1 T A 1: 40,481,833 (GRCm39) D180E probably benign Het
Il2rb A T 15: 78,369,182 (GRCm39) C256* probably null Het
Intu A C 3: 40,633,980 (GRCm39) L404F probably damaging Het
Jmy G A 13: 93,635,624 (GRCm39) T64M possibly damaging Het
Mpl C A 4: 118,311,707 (GRCm39) S302I possibly damaging Het
Mpl T A 4: 118,311,708 (GRCm39) S302C probably damaging Het
Muc2 G T 7: 141,287,951 (GRCm39) D241Y probably damaging Het
Nlrp3 C T 11: 59,437,617 (GRCm39) H99Y probably benign Het
Or5b118 A T 19: 13,448,732 (GRCm39) I133F possibly damaging Het
Or6c216 C G 10: 129,678,483 (GRCm39) V143L probably benign Het
Pglyrp1 A T 7: 18,624,238 (GRCm39) I174F probably damaging Het
Pi4ka A T 16: 17,099,815 (GRCm39) I1936N Het
Plekhm3 C T 1: 64,977,054 (GRCm39) E139K probably damaging Het
Pomk C A 8: 26,473,076 (GRCm39) L292F probably damaging Het
Ptpru A G 4: 131,504,148 (GRCm39) I1103T probably damaging Het
Pygl T C 12: 70,266,401 (GRCm39) D38G probably damaging Het
Rapsn T C 2: 90,872,308 (GRCm39) V214A probably benign Het
S100a9 T A 3: 90,600,234 (GRCm39) K54M probably damaging Het
Sdk2 A G 11: 113,684,570 (GRCm39) Y1964H probably damaging Het
Slc17a5 T C 9: 78,464,780 (GRCm39) N331S probably damaging Het
Snx9 T A 17: 5,958,677 (GRCm39) C252S probably damaging Het
Snx9 G T 17: 5,958,678 (GRCm39) C252F probably damaging Het
Trem1 A T 17: 48,544,220 (GRCm39) M82L 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
R0864:Acvr2a UTSW 2 48,784,798 (GRCm39) splice site probably benign
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
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

Sequencing Primer
Posted On 2017-03-31