Incidental Mutation 'IGL01662:Acvr2b'
| ID |
103212 |
| 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 # |
IGL01662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119231184-119264061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119261570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 388
(Y388H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035093]
[ENSMUST00000165044]
[ENSMUST00000215746]
|
| AlphaFold |
P27040 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035093
AA Change: Y380H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035093
Gene: ENSMUSG00000061393
AA Change: Y380H
| 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 damaging
Transcript: ENSMUST00000165044
AA Change: Y388H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126108
Gene: ENSMUSG00000061393
AA Change: Y388H
| 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 damaging
Transcript: ENSMUST00000215746
AA Change: Y364H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
A |
T |
7: 119,137,511 (GRCm39) |
I402F |
probably damaging |
Het |
| Adh1 |
G |
A |
3: 137,988,512 (GRCm39) |
D162N |
possibly damaging |
Het |
| C6 |
G |
T |
15: 4,822,236 (GRCm39) |
R585I |
probably damaging |
Het |
| Ccdc169 |
T |
A |
3: 55,070,732 (GRCm39) |
|
probably null |
Het |
| Cdh13 |
T |
A |
8: 119,401,916 (GRCm39) |
M106K |
probably damaging |
Het |
| Cep78 |
C |
T |
19: 15,938,359 (GRCm39) |
E530K |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,487 (GRCm39) |
L533Q |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,460 (GRCm39) |
V1181A |
probably benign |
Het |
| Galnt7 |
T |
G |
8: 57,984,769 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,498 (GRCm39) |
R61C |
unknown |
Het |
| Gucy1a1 |
T |
A |
3: 82,016,560 (GRCm39) |
I143F |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,613,050 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,856,020 (GRCm39) |
T741I |
probably benign |
Het |
| Mdc1 |
T |
C |
17: 36,163,397 (GRCm39) |
S982P |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,798,193 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
G |
7: 47,818,172 (GRCm39) |
I188L |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,862 (GRCm39) |
S554C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,220,957 (GRCm39) |
N1715D |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,605,119 (GRCm39) |
S985T |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,155,866 (GRCm39) |
Q22R |
probably benign |
Het |
| Or52i2 |
T |
C |
7: 102,319,927 (GRCm39) |
W267R |
probably damaging |
Het |
| Otulinl |
C |
T |
15: 27,658,151 (GRCm39) |
D290N |
probably damaging |
Het |
| Pabir1 |
A |
G |
19: 24,453,948 (GRCm39) |
V258A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,322 (GRCm39) |
E815G |
probably damaging |
Het |
| Ppp2r2c |
T |
A |
5: 37,083,744 (GRCm39) |
I95N |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,569,225 (GRCm39) |
E717K |
possibly damaging |
Het |
| Prdm2 |
A |
G |
4: 142,860,138 (GRCm39) |
S1051P |
possibly damaging |
Het |
| Rnf214 |
T |
C |
9: 45,811,084 (GRCm39) |
D193G |
probably damaging |
Het |
| Sirpb1b |
G |
T |
3: 15,608,244 (GRCm39) |
T167K |
probably damaging |
Het |
| Slc16a3 |
C |
A |
11: 120,847,532 (GRCm39) |
S240* |
probably null |
Het |
| Snx14 |
T |
A |
9: 88,267,891 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,256,866 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
T |
1: 46,068,522 (GRCm39) |
|
noncoding transcript |
Het |
| Taar7b |
A |
T |
10: 23,875,874 (GRCm39) |
D13V |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,066,506 (GRCm39) |
E740G |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,115,279 (GRCm39) |
A2054V |
possibly damaging |
Het |
| Zfp106 |
A |
G |
2: 120,354,034 (GRCm39) |
V211A |
probably benign |
Het |
| Zfp112 |
A |
G |
7: 23,825,379 (GRCm39) |
H449R |
probably benign |
Het |
|
| Other mutations in Acvr2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02206:Acvr2b
|
APN |
9 |
119,257,064 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2014-01-21 |
Incidental Mutation