Incidental Mutation 'R5543:Acvr1'
| ID |
436078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acvr1
|
| Ensembl Gene |
ENSMUSG00000026836 |
| Gene Name |
activin A receptor, type 1 |
| Synonyms |
Alk8, Tsk7L, SKR1, D330013D15Rik, ActRIA, ALK2, Acvr1a, Acvr, Alk-2, Acvrlk2, ActR-I |
| MMRRC Submission |
043101-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5543 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
58336450-58456840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58353157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 268
(S268P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056376]
[ENSMUST00000090935]
[ENSMUST00000112599]
[ENSMUST00000112601]
|
| AlphaFold |
P37172 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056376
AA Change: S268P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056784
Gene: ENSMUSG00000026836
AA Change: S268P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
33 |
107 |
4e-14 |
PFAM |
|
transmembrane domain
|
124 |
146 |
N/A |
INTRINSIC |
|
GS
|
178 |
208 |
5.13e-16 |
SMART |
|
Blast:STYKc
|
212 |
501 |
1e-25 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090935
AA Change: S268P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088453
Gene: ENSMUSG00000026836
AA Change: S268P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
33 |
107 |
4e-14 |
PFAM |
|
transmembrane domain
|
124 |
146 |
N/A |
INTRINSIC |
|
GS
|
178 |
208 |
5.13e-16 |
SMART |
|
Blast:STYKc
|
212 |
501 |
1e-25 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112599
AA Change: S268P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108218
Gene: ENSMUSG00000026836
AA Change: S268P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
33 |
107 |
1.4e-13 |
PFAM |
|
transmembrane domain
|
124 |
146 |
N/A |
INTRINSIC |
|
GS
|
178 |
208 |
5.13e-16 |
SMART |
|
Blast:STYKc
|
212 |
501 |
1e-25 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112601
AA Change: S268P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108220
Gene: ENSMUSG00000026836
AA Change: S268P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
33 |
107 |
4e-14 |
PFAM |
|
transmembrane domain
|
124 |
146 |
N/A |
INTRINSIC |
|
GS
|
178 |
208 |
5.13e-16 |
SMART |
|
Blast:STYKc
|
212 |
501 |
1e-25 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145495
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth arrest and complete embryonic lethality due to gastrulation defects associated with abnormalities in primitive streak formation, embryonic epiblast morphology, and mesoderm and ectoderm development. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, knock-out(4) Targeted, other(3) Gene trapped(5) |
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
C |
A |
7: 127,836,353 (GRCm39) |
S80I |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,959,627 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
A |
G |
7: 45,638,960 (GRCm39) |
|
probably null |
Het |
| Apod |
T |
C |
16: 31,122,351 (GRCm39) |
|
probably null |
Het |
| Atp5po |
T |
C |
16: 91,723,418 (GRCm39) |
I58V |
probably benign |
Het |
| AU040320 |
C |
T |
4: 126,735,017 (GRCm39) |
T777M |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,194,026 (GRCm39) |
N89I |
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,457,407 (GRCm39) |
T1151K |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,543,228 (GRCm39) |
V2314A |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,595,808 (GRCm39) |
S1881P |
probably damaging |
Het |
| E4f1 |
A |
G |
17: 24,666,336 (GRCm39) |
V24A |
possibly damaging |
Het |
| Esrrg |
A |
T |
1: 187,882,451 (GRCm39) |
D236V |
probably damaging |
Het |
| Fam240b |
T |
A |
13: 64,633,736 (GRCm39) |
I27F |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,476,516 (GRCm39) |
I1854N |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,920,906 (GRCm39) |
Y480H |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,676,394 (GRCm39) |
N47S |
probably benign |
Het |
| Gabrr3 |
T |
C |
16: 59,253,870 (GRCm39) |
S196P |
probably damaging |
Het |
| Gbp8 |
T |
A |
5: 105,165,696 (GRCm39) |
D319V |
possibly damaging |
Het |
| Hrh3 |
G |
T |
2: 179,745,763 (GRCm39) |
A61E |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,818,095 (GRCm39) |
I89T |
probably benign |
Het |
| Ifitm3 |
T |
A |
7: 140,589,730 (GRCm39) |
I108F |
unknown |
Het |
| Izumo4 |
T |
C |
10: 80,538,668 (GRCm39) |
F40S |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,551,242 (GRCm39) |
R679G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Ldha |
A |
T |
7: 46,500,314 (GRCm39) |
I171F |
possibly damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,662,191 (GRCm39) |
S609G |
probably benign |
Het |
| Mmp15 |
T |
C |
8: 96,094,729 (GRCm39) |
F201S |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,969,778 (GRCm39) |
V295I |
probably benign |
Het |
| Or1n2 |
C |
T |
2: 36,797,369 (GRCm39) |
T137I |
possibly damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,993 (GRCm39) |
M261L |
probably damaging |
Het |
| Or5m12 |
G |
T |
2: 85,734,672 (GRCm39) |
A242D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,655,137 (GRCm39) |
D1778G |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,247,886 (GRCm39) |
D969E |
probably benign |
Het |
| Pibf1 |
A |
T |
14: 99,350,428 (GRCm39) |
N192I |
probably benign |
Het |
| Pitpnm3 |
A |
G |
11: 71,947,023 (GRCm39) |
F792S |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,637,199 (GRCm39) |
I604N |
probably damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,887,775 (GRCm39) |
Y188H |
probably damaging |
Het |
| Plxnc1 |
G |
T |
10: 94,700,636 (GRCm39) |
D643E |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,501,080 (GRCm39) |
P1241L |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,977,990 (GRCm39) |
E173G |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,416,557 (GRCm39) |
V232A |
probably damaging |
Het |
| Shbg |
A |
G |
11: 69,507,564 (GRCm39) |
I171T |
probably damaging |
Het |
| Slc22a14 |
A |
T |
9: 119,002,674 (GRCm39) |
F404L |
probably benign |
Het |
| Slc37a3 |
C |
A |
6: 39,331,960 (GRCm39) |
G158C |
probably damaging |
Het |
| Slfn9 |
C |
A |
11: 82,873,207 (GRCm39) |
L565F |
probably damaging |
Het |
| Spmip10 |
G |
A |
18: 56,727,760 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,195,180 (GRCm39) |
M1068K |
probably damaging |
Het |
| Trbv15 |
A |
T |
6: 41,118,187 (GRCm39) |
I15L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,569,918 (GRCm39) |
V26992M |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b34 |
T |
A |
5: 87,054,560 (GRCm39) |
I74F |
probably damaging |
Het |
| Vamp3 |
A |
G |
4: 151,135,477 (GRCm39) |
L47P |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,682,522 (GRCm39) |
C363* |
probably null |
Het |
| Zfp438 |
T |
C |
18: 5,213,761 (GRCm39) |
E399G |
probably damaging |
Het |
|
| Other mutations in Acvr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00691:Acvr1
|
APN |
2 |
58,337,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01392:Acvr1
|
APN |
2 |
58,390,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01526:Acvr1
|
APN |
2 |
58,348,997 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02524:Acvr1
|
APN |
2 |
58,338,319 (GRCm39) |
splice site |
probably benign |
|
|
IGL02682:Acvr1
|
APN |
2 |
58,367,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02795:Acvr1
|
APN |
2 |
58,352,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Acvr1
|
UTSW |
2 |
58,348,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0452:Acvr1
|
UTSW |
2 |
58,390,507 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0746:Acvr1
|
UTSW |
2 |
58,390,562 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R1484:Acvr1
|
UTSW |
2 |
58,369,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Acvr1
|
UTSW |
2 |
58,337,597 (GRCm39) |
nonsense |
probably null |
|
|
R1645:Acvr1
|
UTSW |
2 |
58,352,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Acvr1
|
UTSW |
2 |
58,337,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2435:Acvr1
|
UTSW |
2 |
58,369,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2873:Acvr1
|
UTSW |
2 |
58,367,808 (GRCm39) |
nonsense |
probably null |
|
|
R3729:Acvr1
|
UTSW |
2 |
58,352,925 (GRCm39) |
missense |
probably null |
0.09 |
|
R3854:Acvr1
|
UTSW |
2 |
58,352,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4438:Acvr1
|
UTSW |
2 |
58,367,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4863:Acvr1
|
UTSW |
2 |
58,367,723 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5558:Acvr1
|
UTSW |
2 |
58,349,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Acvr1
|
UTSW |
2 |
58,352,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Acvr1
|
UTSW |
2 |
58,338,411 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6236:Acvr1
|
UTSW |
2 |
58,367,678 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6565:Acvr1
|
UTSW |
2 |
58,369,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Acvr1
|
UTSW |
2 |
58,337,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7739:Acvr1
|
UTSW |
2 |
58,352,983 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7912:Acvr1
|
UTSW |
2 |
58,364,230 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8127:Acvr1
|
UTSW |
2 |
58,367,638 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8343:Acvr1
|
UTSW |
2 |
58,364,286 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8688:Acvr1
|
UTSW |
2 |
58,352,961 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8876:Acvr1
|
UTSW |
2 |
58,338,422 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9135:Acvr1
|
UTSW |
2 |
58,352,983 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9290:Acvr1
|
UTSW |
2 |
58,338,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Acvr1
|
UTSW |
2 |
58,338,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Acvr1
|
UTSW |
2 |
58,338,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Acvr1
|
UTSW |
2 |
58,369,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATCTCGATGGGCAATGG -3'
(R):5'- AAACTGGAGGGTCATGTGCTG -3'
Sequencing Primer
(F):5'- AATGGCGGACTTCCCTTG -3'
(R):5'- GTTCGTTGGCCCTGCAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation