Incidental Mutation 'R3763:Acvr2a'
ID 270578
Institutional Source Beutler Lab
Gene Symbol Acvr2a
Ensembl Gene ENSMUSG00000052155
Gene Name activin receptor IIA
Synonyms Acvr2, ActRIIa, tActRII
MMRRC Submission 040873-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3763 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 48704121-48793276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48760331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 29 (E29G)
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 possibly damaging
Transcript: ENSMUST00000063886
AA Change: E29G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: E29G

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
Meta Mutation Damage Score 0.2009 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (37/37)
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
Aff3 A G 1: 38,291,770 (GRCm39) probably benign Het
AW146154 A G 7: 41,129,794 (GRCm39) C441R probably damaging Het
Cacna1a T C 8: 85,310,271 (GRCm39) V1443A possibly damaging Het
Commd1 T A 11: 22,924,102 (GRCm39) F292Y probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
Ddx18 A G 1: 121,489,106 (GRCm39) Y314H probably damaging Het
Dna2 C T 10: 62,802,576 (GRCm39) T898I probably damaging Het
Epc1 C A 18: 6,440,091 (GRCm39) V59L possibly damaging Het
Etv6 C A 6: 134,239,975 (GRCm39) probably benign Het
Fam118a A G 15: 84,937,998 (GRCm39) D293G possibly damaging Het
Gzmn A C 14: 56,404,361 (GRCm39) S159A probably benign Het
Insc A G 7: 114,390,207 (GRCm39) D26G probably damaging Het
L1td1 A G 4: 98,626,072 (GRCm39) R756G probably damaging Het
Ltk A G 2: 119,582,318 (GRCm39) L499P probably benign Het
Mast4 A T 13: 102,923,927 (GRCm39) L291M probably damaging Het
Nefm G T 14: 68,361,797 (GRCm39) R156S probably damaging Het
Nppc T A 1: 86,597,580 (GRCm39) N63Y probably damaging Het
Or5p79 A T 7: 108,221,924 (GRCm39) I302F probably damaging Het
Or6c69 A G 10: 129,747,314 (GRCm39) S278P probably damaging Het
Pcdhb7 T C 18: 37,474,936 (GRCm39) V24A probably benign Het
Pcm1 C A 8: 41,733,114 (GRCm39) Q787K probably damaging Het
Prg3 A G 2: 84,823,334 (GRCm39) K170E possibly damaging Het
Slc25a54 T C 3: 109,019,370 (GRCm39) S325P probably damaging Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Spock3 T A 8: 63,597,049 (GRCm39) probably null Het
Stk-ps2 G A 1: 46,069,081 (GRCm39) noncoding transcript Het
Svep1 T G 4: 58,084,833 (GRCm39) D1835A possibly damaging Het
Tmcc3 A G 10: 94,415,179 (GRCm39) T294A probably benign Het
Tsen54 A G 11: 115,711,237 (GRCm39) N62S probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn2r18 G A 5: 151,508,644 (GRCm39) A160V probably damaging Het
Wnk4 T C 11: 101,160,114 (GRCm39) V661A probably benign Het
Zfhx4 A G 3: 5,468,404 (GRCm39) Y2854C probably damaging Het
Zfp563 G T 17: 33,323,902 (GRCm39) E166* probably null Het
Zfp687 T A 3: 94,919,391 (GRCm39) N127I probably damaging Het
Zfp958 T A 8: 4,676,226 (GRCm39) probably null 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
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'- CCTAAAGCATGGCCATTCAAATGC -3'
(R):5'- AGAAGGAAAGTCACTGAACTCC -3'

Sequencing Primer
(F):5'- GCATGGCCATTCAAATGCAAAGTTG -3'
(R):5'- ACATTCTTACCTGTCATAGCAGTTG -3'
Posted On 2015-03-18