Incidental Mutation 'IGL01551:Acvr2a'
| ID |
93260 |
| 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 # |
IGL01551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
48704121-48793276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48787071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 389
(A389T)
|
| 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 damaging
Transcript: ENSMUST00000063886
AA Change: A389T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: A389T
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,147 (GRCm39) |
S103L |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,784,001 (GRCm39) |
S1037P |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,511,446 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,404,183 (GRCm39) |
N569S |
probably damaging |
Het |
| Bin1 |
G |
T |
18: 32,510,511 (GRCm39) |
V18L |
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,814,620 (GRCm39) |
Y69H |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,611 (GRCm39) |
R134G |
possibly damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,441,860 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,134,691 (GRCm39) |
|
probably benign |
Het |
| Gm10961 |
A |
G |
3: 107,540,281 (GRCm39) |
|
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Ifi202b |
T |
A |
1: 173,798,928 (GRCm39) |
K373N |
probably benign |
Het |
| Khk |
C |
A |
5: 31,082,189 (GRCm39) |
H67N |
probably benign |
Het |
| Kif7 |
T |
A |
7: 79,360,314 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,402,614 (GRCm39) |
|
probably benign |
Het |
| Mtor |
A |
G |
4: 148,556,494 (GRCm39) |
H968R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,673,157 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,618 (GRCm39) |
T250A |
probably benign |
Het |
| Or2f1b |
A |
G |
6: 42,739,046 (GRCm39) |
D20G |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,629 (GRCm39) |
H136L |
probably benign |
Het |
| Otol1 |
T |
C |
3: 69,935,057 (GRCm39) |
F350L |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,383,042 (GRCm39) |
N59S |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,352,342 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
A |
T |
1: 190,505,837 (GRCm39) |
S1042T |
possibly damaging |
Het |
| Rtn1 |
C |
T |
12: 72,263,709 (GRCm39) |
V741I |
possibly damaging |
Het |
| Tor2a |
T |
A |
2: 32,650,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,688 (GRCm39) |
I63V |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,343,849 (GRCm39) |
D2030G |
probably benign |
Het |
| Zfp326 |
T |
C |
5: 106,036,451 (GRCm39) |
S121P |
probably damaging |
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation