Incidental Mutation 'IGL02210:Acvr2a'
ID 284672
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acvr2a
Ensembl Gene ENSMUSG00000052155
Gene Name activin receptor IIA
Synonyms Acvr2, ActRIIa, tActRII
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02210
Quality Score
Status
Chromosome 2
Chromosomal Location 48704121-48793276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48788538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 422 (H422L)
Ref Sequence ENSEMBL: ENSMUSP00000067305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028098] [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: 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: H422L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: H422L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,633,097 (GRCm39) F215S probably damaging Het
Adcy6 T C 15: 98,492,852 (GRCm39) Y908C possibly damaging Het
Alyref A C 11: 120,488,499 (GRCm39) S110A possibly damaging Het
Ankrd1 T C 19: 36,095,714 (GRCm39) D86G probably damaging Het
Anpep T A 7: 79,476,652 (GRCm39) Y29F probably benign Het
Appl1 T C 14: 26,647,909 (GRCm39) probably benign Het
Arrdc5 T C 17: 56,607,026 (GRCm39) D73G probably damaging Het
Atp12a T A 14: 56,609,201 (GRCm39) Y142* probably null Het
Clec4a3 T A 6: 122,931,067 (GRCm39) I52N probably damaging Het
Cmya5 G A 13: 93,229,242 (GRCm39) P1949S probably benign Het
Crybb2 T A 5: 113,206,253 (GRCm39) Q194L probably damaging Het
Dmxl2 A C 9: 54,311,333 (GRCm39) L1796R probably damaging Het
Ecm1 A G 3: 95,643,289 (GRCm39) F337S probably damaging Het
F5 T C 1: 164,017,710 (GRCm39) S596P probably benign Het
Fat4 A G 3: 38,946,002 (GRCm39) T1632A probably benign Het
Gm5070 T G 3: 95,317,936 (GRCm39) noncoding transcript Het
Hps5 T C 7: 46,435,994 (GRCm39) Y184C probably benign Het
Letmd1 T C 15: 100,367,128 (GRCm39) probably null Het
Lipo5 A T 19: 33,445,277 (GRCm39) N97K unknown Het
Mis18bp1 A T 12: 65,183,605 (GRCm39) Y922* probably null Het
Mob3c C A 4: 115,690,952 (GRCm39) H181N probably damaging Het
Muc4 A T 16: 32,574,054 (GRCm39) T711S probably benign Het
Nav3 T C 10: 109,602,851 (GRCm39) T1233A probably benign Het
Nherf4 T G 9: 44,159,614 (GRCm39) T461P probably benign Het
Or12e8 T A 2: 87,188,347 (GRCm39) D186E probably damaging Het
Or12k8 G T 2: 36,975,631 (GRCm39) T43N possibly damaging Het
Pcnt T C 10: 76,225,053 (GRCm39) E1817G possibly damaging Het
Pgap4 A G 4: 49,586,686 (GRCm39) Y161H probably benign Het
Phc3 A G 3: 30,990,858 (GRCm39) V420A probably damaging Het
Plekhn1 A T 4: 156,308,106 (GRCm39) C316S probably damaging Het
Ppp1cb T A 5: 32,640,818 (GRCm39) probably benign Het
Slc29a4 T C 5: 142,704,534 (GRCm39) Y359H probably damaging Het
Sspo T C 6: 48,477,426 (GRCm39) I4982T probably damaging Het
Sstr4 T A 2: 148,238,229 (GRCm39) L280Q probably damaging Het
Stap1 G A 5: 86,225,920 (GRCm39) probably null Het
Szt2 A G 4: 118,247,020 (GRCm39) V865A possibly damaging Het
Tnr T A 1: 159,679,671 (GRCm39) V215D probably benign Het
Trpm1 T C 7: 63,860,613 (GRCm39) L288P probably damaging Het
Ttll5 T A 12: 85,959,319 (GRCm39) probably benign Het
Usp8 T C 2: 126,559,976 (GRCm39) probably benign Het
Uxs1 T C 1: 43,789,446 (GRCm39) Y403C possibly damaging Het
Wnk2 T C 13: 49,244,345 (GRCm39) E497G probably damaging Het
Xdh T C 17: 74,250,890 (GRCm39) K21E 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
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
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
Posted On 2015-04-16