Incidental Mutation 'IGL01913:Acvr2a'
| ID |
179865 |
| 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 # |
IGL01913
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
48704121-48793276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48789625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 456
(E456G)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
57 |
199 |
2.75e-5 |
SMART |
|
Pfam:ORC4_C
|
225 |
413 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063886
AA Change: E456G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: E456G
| 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 |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
T |
19: 8,983,428 (GRCm39) |
K1571* |
probably null |
Het |
| Arhgef2 |
G |
A |
3: 88,539,226 (GRCm39) |
V58M |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,309,652 (GRCm39) |
|
probably null |
Het |
| C3 |
T |
C |
17: 57,520,767 (GRCm39) |
N1163S |
probably null |
Het |
| Cbfa2t2 |
A |
G |
2: 154,359,693 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,313,899 (GRCm39) |
V1905A |
possibly damaging |
Het |
| Dsg1a |
C |
T |
18: 20,455,293 (GRCm39) |
R86C |
probably damaging |
Het |
| Fastkd1 |
A |
T |
2: 69,538,845 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,910,086 (GRCm39) |
D1972G |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,637 (GRCm39) |
T163A |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H6pd |
A |
T |
4: 150,078,920 (GRCm39) |
|
probably benign |
Het |
| Klhdc2 |
T |
G |
12: 69,349,132 (GRCm39) |
S90A |
probably benign |
Het |
| Lcn2 |
A |
G |
2: 32,277,157 (GRCm39) |
V139A |
possibly damaging |
Het |
| Nup205 |
A |
G |
6: 35,204,365 (GRCm39) |
E1417G |
probably benign |
Het |
| Or4a77 |
T |
G |
2: 89,487,684 (GRCm39) |
I34L |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,294 (GRCm39) |
C96S |
probably damaging |
Het |
| Or5t17 |
A |
T |
2: 86,833,164 (GRCm39) |
M284L |
possibly damaging |
Het |
| Pcdh18 |
C |
A |
3: 49,709,698 (GRCm39) |
S539I |
possibly damaging |
Het |
| Stat1 |
T |
C |
1: 52,165,716 (GRCm39) |
I104T |
probably benign |
Het |
| Tmem151a |
G |
A |
19: 5,131,920 (GRCm39) |
R429C |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdpcp |
A |
G |
11: 21,698,931 (GRCm39) |
D570G |
probably damaging |
Het |
| Zbtb47 |
T |
C |
9: 121,593,035 (GRCm39) |
C452R |
probably damaging |
Het |
| Zfp429 |
T |
C |
13: 67,544,793 (GRCm39) |
Y27C |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,012,138 (GRCm39) |
V1368A |
probably benign |
Het |
|
| Other mutations in Acvr2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2014-05-07 |
Incidental Mutation