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)
|
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
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: H422L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000067305 Gene: ENSMUSG00000052155 AA Change: H422L
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |