Incidental Mutation 'R5060:Acvr2a'
| ID |
458163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acvr2a
|
| Ensembl Gene |
ENSMUSG00000052155 |
| Gene Name |
activin receptor IIA |
| Synonyms |
Acvr2, ActRIIa, tActRII |
| MMRRC Submission |
042650-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5060 (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 48780311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 177
(D177G)
|
| 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: D177G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067305
Gene: ENSMUSG00000052155
AA Change: D177G
| 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 |
0.0822 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
| Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
| Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
| Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,710 (GRCm39) |
S959R |
possibly damaging |
Het |
| Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
| Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
| Cilk1 |
C |
T |
9: 78,060,978 (GRCm39) |
T208I |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,049,514 (GRCm39) |
L14P |
unknown |
Het |
| Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,482 (GRCm39) |
I292T |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
| Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
| Mark3 |
T |
C |
12: 111,584,760 (GRCm39) |
F119L |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
| Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
| Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
| Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,506,928 (GRCm39) |
S372T |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,556,906 (GRCm39) |
I118N |
probably damaging |
Het |
| Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
| Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
T |
C |
1: 155,204,430 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
A |
G |
4: 136,728,604 (GRCm39) |
V413A |
possibly 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 |
|
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 |
|
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'- GCCCTAGCATCTAAGTTCTCG -3'
(R):5'- AGGCTGTTTATGAGCTATAATGTCC -3'
Sequencing Primer
(F):5'- AGCATCTAAGTTCTCGCAGGCTG -3'
(R):5'- GCTATAATGTCCTAACCAGTTACAGC -3'
|
| Posted On |
2017-02-17 |
Incidental Mutation