Incidental Mutation 'IGL02206:Acvr2b'
ID |
284464 |
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 # |
IGL02206
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
119231184-119264061 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 119257064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 98
(Q98*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035093]
[ENSMUST00000165044]
[ENSMUST00000215746]
|
AlphaFold |
P27040 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035093
AA Change: Q98*
|
SMART Domains |
Protein: ENSMUSP00000035093 Gene: ENSMUSG00000061393 AA Change: Q98*
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 null
Transcript: ENSMUST00000165044
AA Change: Q98*
|
SMART Domains |
Protein: ENSMUSP00000126108 Gene: ENSMUSG00000061393 AA Change: Q98*
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 null
Transcript: ENSMUST00000215746
AA Change: Q98*
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
T |
11: 84,151,573 (GRCm39) |
K824* |
probably null |
Het |
Acot12 |
A |
G |
13: 91,908,106 (GRCm39) |
D96G |
probably damaging |
Het |
Aldh8a1 |
T |
C |
10: 21,271,474 (GRCm39) |
V400A |
probably benign |
Het |
Aox1 |
C |
A |
1: 58,104,499 (GRCm39) |
H559N |
probably benign |
Het |
Arhgef18 |
T |
A |
8: 3,495,034 (GRCm39) |
I431N |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,985,009 (GRCm39) |
D32G |
probably damaging |
Het |
Cgas |
T |
C |
9: 78,350,362 (GRCm39) |
|
probably null |
Het |
Cmtm8 |
T |
C |
9: 114,672,967 (GRCm39) |
H10R |
probably benign |
Het |
Cnn1 |
T |
G |
9: 22,015,674 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Defb23 |
C |
A |
2: 152,306,455 (GRCm39) |
E20* |
probably null |
Het |
Dennd2a |
A |
T |
6: 39,500,383 (GRCm39) |
S61T |
probably damaging |
Het |
Fam13a |
A |
T |
6: 58,964,204 (GRCm39) |
I76K |
probably benign |
Het |
Fgd5 |
A |
G |
6: 91,964,239 (GRCm39) |
|
probably benign |
Het |
Flt4 |
A |
T |
11: 49,521,217 (GRCm39) |
R409W |
probably damaging |
Het |
Gramd1b |
T |
C |
9: 40,211,328 (GRCm39) |
T652A |
probably benign |
Het |
Grik1 |
C |
T |
16: 87,732,808 (GRCm39) |
G703D |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
Itpr1 |
A |
G |
6: 108,526,781 (GRCm39) |
N2743S |
probably damaging |
Het |
Klc1 |
A |
G |
12: 111,744,550 (GRCm39) |
|
probably benign |
Het |
Ndufa9 |
G |
A |
6: 126,821,366 (GRCm39) |
R75* |
probably null |
Het |
Neurl4 |
A |
G |
11: 69,801,166 (GRCm39) |
N1181S |
probably damaging |
Het |
Or5an9 |
T |
C |
19: 12,187,824 (GRCm39) |
I298T |
probably damaging |
Het |
Phf1 |
A |
G |
17: 27,155,843 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,376,245 (GRCm39) |
I969T |
probably benign |
Het |
Pprc1 |
G |
A |
19: 46,060,190 (GRCm39) |
R1538Q |
probably damaging |
Het |
Rasd1 |
C |
T |
11: 59,854,778 (GRCm39) |
G234D |
possibly damaging |
Het |
Rnf152 |
T |
C |
1: 105,212,549 (GRCm39) |
T3A |
probably benign |
Het |
Rrh |
C |
T |
3: 129,605,346 (GRCm39) |
V115I |
probably benign |
Het |
Rundc3a |
G |
T |
11: 102,290,460 (GRCm39) |
E217* |
probably null |
Het |
Sae1 |
A |
T |
7: 16,064,581 (GRCm39) |
V306E |
possibly damaging |
Het |
Serpinb7 |
T |
C |
1: 107,363,102 (GRCm39) |
S89P |
possibly damaging |
Het |
Serpinb9h |
A |
G |
13: 33,588,182 (GRCm39) |
T256A |
probably damaging |
Het |
Sgo2b |
T |
A |
8: 64,394,118 (GRCm39) |
T74S |
possibly damaging |
Het |
Slc5a7 |
T |
C |
17: 54,604,022 (GRCm39) |
D48G |
probably damaging |
Het |
Stn1 |
T |
C |
19: 47,504,612 (GRCm39) |
M177V |
possibly damaging |
Het |
Tgm1 |
T |
C |
14: 55,942,392 (GRCm39) |
E653G |
possibly damaging |
Het |
Thsd4 |
T |
C |
9: 60,301,398 (GRCm39) |
K299R |
probably benign |
Het |
Ttc22 |
A |
G |
4: 106,493,186 (GRCm39) |
T278A |
probably damaging |
Het |
Ubl4b |
G |
T |
3: 107,462,141 (GRCm39) |
Q40K |
possibly damaging |
Het |
Zfp677 |
A |
G |
17: 21,613,499 (GRCm39) |
D31G |
probably damaging |
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 |
IGL03022:Acvr2b
|
APN |
9 |
119,256,587 (GRCm39) |
missense |
probably benign |
0.10 |
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 |
2015-04-16 |