Incidental Mutation 'R3763:Acvr2a'
ID |
270578 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acvr2a
|
Ensembl Gene |
ENSMUSG00000052155 |
Gene Name |
activin receptor IIA |
Synonyms |
Acvr2, ActRIIa, tActRII |
MMRRC Submission |
040873-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
48704121-48793276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48760331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 29
(E29G)
|
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 |
possibly damaging
Transcript: ENSMUST00000063886
AA Change: E29G
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000067305 Gene: ENSMUSG00000052155 AA Change: E29G
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 |
|
Meta Mutation Damage Score |
0.2009 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (37/37) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
A |
G |
1: 38,291,770 (GRCm39) |
|
probably benign |
Het |
AW146154 |
A |
G |
7: 41,129,794 (GRCm39) |
C441R |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,310,271 (GRCm39) |
V1443A |
possibly damaging |
Het |
Commd1 |
T |
A |
11: 22,924,102 (GRCm39) |
F292Y |
probably benign |
Het |
Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
Ddx18 |
A |
G |
1: 121,489,106 (GRCm39) |
Y314H |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,802,576 (GRCm39) |
T898I |
probably damaging |
Het |
Epc1 |
C |
A |
18: 6,440,091 (GRCm39) |
V59L |
possibly damaging |
Het |
Etv6 |
C |
A |
6: 134,239,975 (GRCm39) |
|
probably benign |
Het |
Fam118a |
A |
G |
15: 84,937,998 (GRCm39) |
D293G |
possibly damaging |
Het |
Gzmn |
A |
C |
14: 56,404,361 (GRCm39) |
S159A |
probably benign |
Het |
Insc |
A |
G |
7: 114,390,207 (GRCm39) |
D26G |
probably damaging |
Het |
L1td1 |
A |
G |
4: 98,626,072 (GRCm39) |
R756G |
probably damaging |
Het |
Ltk |
A |
G |
2: 119,582,318 (GRCm39) |
L499P |
probably benign |
Het |
Mast4 |
A |
T |
13: 102,923,927 (GRCm39) |
L291M |
probably damaging |
Het |
Nefm |
G |
T |
14: 68,361,797 (GRCm39) |
R156S |
probably damaging |
Het |
Nppc |
T |
A |
1: 86,597,580 (GRCm39) |
N63Y |
probably damaging |
Het |
Or5p79 |
A |
T |
7: 108,221,924 (GRCm39) |
I302F |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,314 (GRCm39) |
S278P |
probably damaging |
Het |
Pcdhb7 |
T |
C |
18: 37,474,936 (GRCm39) |
V24A |
probably benign |
Het |
Pcm1 |
C |
A |
8: 41,733,114 (GRCm39) |
Q787K |
probably damaging |
Het |
Prg3 |
A |
G |
2: 84,823,334 (GRCm39) |
K170E |
possibly damaging |
Het |
Slc25a54 |
T |
C |
3: 109,019,370 (GRCm39) |
S325P |
probably damaging |
Het |
Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
Spock3 |
T |
A |
8: 63,597,049 (GRCm39) |
|
probably null |
Het |
Stk-ps2 |
G |
A |
1: 46,069,081 (GRCm39) |
|
noncoding transcript |
Het |
Svep1 |
T |
G |
4: 58,084,833 (GRCm39) |
D1835A |
possibly damaging |
Het |
Tmcc3 |
A |
G |
10: 94,415,179 (GRCm39) |
T294A |
probably benign |
Het |
Tsen54 |
A |
G |
11: 115,711,237 (GRCm39) |
N62S |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn2r18 |
G |
A |
5: 151,508,644 (GRCm39) |
A160V |
probably damaging |
Het |
Wnk4 |
T |
C |
11: 101,160,114 (GRCm39) |
V661A |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,468,404 (GRCm39) |
Y2854C |
probably damaging |
Het |
Zfp563 |
G |
T |
17: 33,323,902 (GRCm39) |
E166* |
probably null |
Het |
Zfp687 |
T |
A |
3: 94,919,391 (GRCm39) |
N127I |
probably damaging |
Het |
Zfp958 |
T |
A |
8: 4,676,226 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTAAAGCATGGCCATTCAAATGC -3'
(R):5'- AGAAGGAAAGTCACTGAACTCC -3'
Sequencing Primer
(F):5'- GCATGGCCATTCAAATGCAAAGTTG -3'
(R):5'- ACATTCTTACCTGTCATAGCAGTTG -3'
|
Posted On |
2015-03-18 |