Incidental Mutation 'IGL03022:Acvr2b'
| ID |
408028 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acvr2b
|
| Ensembl Gene |
ENSMUSG00000061393 |
| Gene Name |
activin receptor IIB |
| Synonyms |
ActRIIB |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119231184-119264061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 119256587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 40
(R40L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035093]
[ENSMUST00000165044]
[ENSMUST00000215746]
|
| AlphaFold |
P27040 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035093
AA Change: R40L
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000035093
Gene: ENSMUSG00000061393
AA Change: R40L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
27 |
117 |
5.4e-13 |
PFAM |
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
206 |
494 |
1.5e-55 |
PFAM |
|
Pfam:Pkinase_Tyr
|
206 |
494 |
2.3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165044
AA Change: R40L
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126108
Gene: ENSMUSG00000061393
AA Change: R40L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
27 |
117 |
5.3e-14 |
PFAM |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
214 |
502 |
1.7e-26 |
PFAM |
|
Pfam:Pkinase
|
217 |
501 |
1e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215746
AA Change: R40L
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217621
|
| Coding Region Coverage |
|
| 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. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene show abnormal lateral asymmetry and homeotic transformation of the axial skeleton, and die shortly after birth with extensive cardiac defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
| Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
| Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
| H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
| Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
| Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
| Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
| Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
| Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
| Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
| Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
| Zfp84 |
T |
C |
7: 29,474,759 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Acvr2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01662:Acvr2b
|
APN |
9 |
119,261,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02206:Acvr2b
|
APN |
9 |
119,257,064 (GRCm39) |
nonsense |
probably null |
|
|
IGL03131:Acvr2b
|
APN |
9 |
119,260,350 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0455:Acvr2b
|
UTSW |
9 |
119,261,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Acvr2b
|
UTSW |
9 |
119,261,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Acvr2b
|
UTSW |
9 |
119,260,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Acvr2b
|
UTSW |
9 |
119,261,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5636:Acvr2b
|
UTSW |
9 |
119,257,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6196:Acvr2b
|
UTSW |
9 |
119,262,469 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6253:Acvr2b
|
UTSW |
9 |
119,257,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6424:Acvr2b
|
UTSW |
9 |
119,231,645 (GRCm39) |
missense |
probably benign |
|
|
R6465:Acvr2b
|
UTSW |
9 |
119,262,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7096:Acvr2b
|
UTSW |
9 |
119,257,255 (GRCm39) |
splice site |
probably null |
|
|
R7102:Acvr2b
|
UTSW |
9 |
119,261,619 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7497:Acvr2b
|
UTSW |
9 |
119,262,352 (GRCm39) |
missense |
probably benign |
|
|
R8557:Acvr2b
|
UTSW |
9 |
119,261,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9041:Acvr2b
|
UTSW |
9 |
119,257,052 (GRCm39) |
nonsense |
probably null |
|
|
R9149:Acvr2b
|
UTSW |
9 |
119,257,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Acvr2b
|
UTSW |
9 |
119,231,616 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9321:Acvr2b
|
UTSW |
9 |
119,257,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9340:Acvr2b
|
UTSW |
9 |
119,257,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9531:Acvr2b
|
UTSW |
9 |
119,260,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation