Incidental Mutation 'IGL00756:Acvr2a'
| ID |
8563 |
| 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)
|
| Stock # |
IGL00756
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
48704121-48793276 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 48763064 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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
C |
A |
3: 36,962,367 (GRCm39) |
H489Q |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,362,023 (GRCm39) |
K583N |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,293,931 (GRCm39) |
|
probably benign |
Het |
| Crot |
C |
A |
5: 9,026,072 (GRCm39) |
R305L |
probably damaging |
Het |
| Ctnnal1 |
A |
T |
4: 56,829,544 (GRCm39) |
N428K |
possibly damaging |
Het |
| Dab1 |
A |
G |
4: 104,585,075 (GRCm39) |
K405R |
probably benign |
Het |
| Dnah6 |
A |
C |
6: 73,100,754 (GRCm39) |
F2016L |
possibly damaging |
Het |
| Fgfrl1 |
A |
G |
5: 108,853,819 (GRCm39) |
K309E |
possibly damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,640,658 (GRCm39) |
H749R |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,300,460 (GRCm39) |
S1525T |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,309,468 (GRCm39) |
Y72N |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,691,004 (GRCm39) |
E387K |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,618,016 (GRCm39) |
M932T |
possibly damaging |
Het |
| Rarb |
C |
A |
14: 16,443,791 (GRCm38) |
E166* |
probably null |
Het |
| Thnsl1 |
T |
A |
2: 21,217,423 (GRCm39) |
H392Q |
probably benign |
Het |
| Tmem171 |
T |
A |
13: 98,822,934 (GRCm39) |
R288S |
probably benign |
Het |
| Zc4h2 |
T |
A |
X: 94,685,807 (GRCm39) |
R186* |
probably null |
Het |
|
| Other mutations in Acvr2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation