Incidental Mutation 'R2876:Acvr2a'
| ID |
260541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acvr2a
|
| Ensembl Gene |
ENSMUSG00000052155 |
| Gene Name |
activin receptor IIA |
| Synonyms |
Acvr2, ActRIIa, tActRII |
| MMRRC Submission |
040464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
48704121-48793276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48782190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 241
(M241K)
|
| 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: M241K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: M241K
| 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
|
| Meta Mutation Damage Score |
0.8142 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (42/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,583,644 (GRCm39) |
Q235K |
possibly damaging |
Het |
| Abcc1 |
A |
T |
16: 14,275,824 (GRCm39) |
H906L |
probably benign |
Het |
| Acot6 |
T |
G |
12: 84,148,036 (GRCm39) |
D97E |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,772,891 (GRCm39) |
|
probably benign |
Het |
| Adgb |
T |
G |
10: 10,298,463 (GRCm39) |
T422P |
probably damaging |
Het |
| Adrm1 |
A |
G |
2: 179,817,411 (GRCm39) |
T293A |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,282,462 (GRCm39) |
V395A |
possibly damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,835,607 (GRCm39) |
M451V |
probably damaging |
Het |
| Ccdc152 |
T |
C |
15: 3,327,663 (GRCm39) |
N38S |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,143,275 (GRCm39) |
N3017K |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,390,841 (GRCm39) |
M997T |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,126,124 (GRCm39) |
E1344G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,292,069 (GRCm39) |
S573R |
probably benign |
Het |
| Ilvbl |
C |
A |
10: 78,418,890 (GRCm39) |
Q410K |
probably benign |
Het |
| Ints11 |
C |
A |
4: 155,971,882 (GRCm39) |
|
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,507,139 (GRCm39) |
|
probably benign |
Het |
| Lrrc27 |
C |
T |
7: 138,808,600 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,597,480 (GRCm39) |
A422V |
possibly damaging |
Het |
| Masp2 |
T |
A |
4: 148,692,458 (GRCm39) |
I317K |
probably benign |
Het |
| Or13n4 |
A |
T |
7: 106,423,664 (GRCm39) |
V23E |
probably benign |
Het |
| Or2ag18 |
C |
G |
7: 106,405,204 (GRCm39) |
S155T |
probably benign |
Het |
| Or5g26 |
A |
G |
2: 85,494,034 (GRCm39) |
V248A |
probably damaging |
Het |
| Papln |
T |
A |
12: 83,825,701 (GRCm39) |
S661T |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,185,414 (GRCm39) |
S229P |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,186,106 (GRCm39) |
S1688P |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,468,513 (GRCm39) |
T1005A |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,417 (GRCm39) |
V128A |
probably benign |
Het |
| Rhbdd1 |
A |
G |
1: 82,346,090 (GRCm39) |
D215G |
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,331,686 (GRCm39) |
R417C |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,546,241 (GRCm39) |
I935L |
possibly damaging |
Het |
| Sdc4 |
T |
C |
2: 164,273,211 (GRCm39) |
D33G |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,505,582 (GRCm39) |
S454P |
probably damaging |
Het |
| Spidr |
A |
T |
16: 15,730,453 (GRCm39) |
|
probably null |
Het |
| Srp72 |
T |
A |
5: 77,143,767 (GRCm39) |
|
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,725,597 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,750,684 (GRCm39) |
S3455N |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,852,356 (GRCm39) |
E868V |
probably damaging |
Het |
| Vmn2r89 |
G |
T |
14: 51,692,541 (GRCm39) |
G115C |
possibly damaging |
Het |
| Zbed6 |
C |
T |
1: 133,584,598 (GRCm39) |
C913Y |
probably damaging |
Het |
| Zscan29 |
T |
C |
2: 120,994,581 (GRCm39) |
Y468C |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGTACCTAGCTCATTTTGATG -3'
(R):5'- GCTGTAAGCTGTTCTTTCCTTAAAG -3'
Sequencing Primer
(F):5'- AGCTCATTTTGATGTTGGACCAC -3'
(R):5'- ATTTTGGGTCAAATATTAATCAACCG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation