Incidental Mutation 'R6465:Acvr2b'
ID |
517783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acvr2b
|
Ensembl Gene |
ENSMUSG00000061393 |
Gene Name |
activin receptor IIB |
Synonyms |
ActRIIB |
MMRRC Submission |
044598-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6465 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
119231184-119264061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119262369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 461
(W461R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035093]
[ENSMUST00000165044]
[ENSMUST00000215746]
|
AlphaFold |
P27040 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035093
AA Change: W477R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035093 Gene: ENSMUSG00000061393 AA Change: W477R
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: W485R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126108 Gene: ENSMUSG00000061393 AA Change: W485R
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: W461R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217621
|
Meta Mutation Damage Score |
0.9687 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
95% (40/42) |
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 |
A2ml1 |
G |
A |
6: 128,518,041 (GRCm39) |
T1415I |
probably damaging |
Het |
Adam23 |
G |
T |
1: 63,605,827 (GRCm39) |
C637F |
probably damaging |
Het |
Apol8 |
T |
G |
15: 77,634,148 (GRCm39) |
T143P |
probably benign |
Het |
Bfsp1 |
A |
C |
2: 143,699,975 (GRCm39) |
|
probably null |
Het |
Cytl1 |
T |
C |
5: 37,895,014 (GRCm39) |
V99A |
probably benign |
Het |
Dock2 |
A |
T |
11: 34,453,413 (GRCm39) |
V793E |
probably damaging |
Het |
Fxyd5 |
G |
T |
7: 30,737,305 (GRCm39) |
T81K |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,972,151 (GRCm39) |
Y364C |
probably damaging |
Het |
Get3 |
A |
T |
8: 85,745,194 (GRCm39) |
M291K |
probably benign |
Het |
Haghl |
T |
C |
17: 26,002,793 (GRCm39) |
N190S |
possibly damaging |
Het |
Inpp5j |
C |
A |
11: 3,452,293 (GRCm39) |
R319L |
possibly damaging |
Het |
Ints10 |
A |
G |
8: 69,260,188 (GRCm39) |
N304S |
probably benign |
Het |
Isoc1 |
T |
A |
18: 58,804,328 (GRCm39) |
C119S |
probably damaging |
Het |
Klhl18 |
A |
G |
9: 110,257,988 (GRCm39) |
M414T |
probably benign |
Het |
Krtap2-4 |
A |
G |
11: 99,505,585 (GRCm39) |
|
probably benign |
Het |
Krtap3-1 |
G |
A |
11: 99,457,277 (GRCm39) |
P45S |
possibly damaging |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
G |
7: 97,711,887 (GRCm39) |
V1754A |
possibly damaging |
Het |
Nedd4l |
T |
A |
18: 65,288,335 (GRCm39) |
D119E |
probably benign |
Het |
Nsun7 |
T |
C |
5: 66,452,929 (GRCm39) |
V548A |
probably benign |
Het |
Or5m12 |
A |
T |
2: 85,734,883 (GRCm39) |
S172T |
probably benign |
Het |
Or6b6 |
A |
T |
7: 106,571,419 (GRCm39) |
V44E |
possibly damaging |
Het |
Parvg |
A |
G |
15: 84,213,141 (GRCm39) |
D127G |
probably damaging |
Het |
Pate13 |
A |
T |
9: 35,819,921 (GRCm39) |
N25Y |
possibly damaging |
Het |
Piezo2 |
T |
A |
18: 63,174,734 (GRCm39) |
M2007L |
possibly damaging |
Het |
Pou2f3 |
A |
C |
9: 43,051,162 (GRCm39) |
F175V |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 117,233,209 (GRCm39) |
I958T |
probably damaging |
Het |
Pwwp2b |
T |
C |
7: 138,835,951 (GRCm39) |
V464A |
probably benign |
Het |
Pzp |
A |
G |
6: 128,468,582 (GRCm39) |
Y982H |
probably damaging |
Het |
Rad17 |
T |
A |
13: 100,773,588 (GRCm39) |
N202I |
probably benign |
Het |
Rtel1 |
T |
A |
2: 180,977,733 (GRCm39) |
D271E |
possibly damaging |
Het |
Sos2 |
T |
C |
12: 69,643,549 (GRCm39) |
S943G |
probably benign |
Het |
Tdpoz6 |
A |
G |
3: 93,600,303 (GRCm39) |
I22T |
probably damaging |
Het |
Tm9sf2 |
A |
G |
14: 122,378,619 (GRCm39) |
H241R |
probably benign |
Het |
Ttc8 |
A |
G |
12: 98,930,829 (GRCm39) |
E291G |
probably damaging |
Het |
Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,096,576 (GRCm39) |
D1219E |
probably damaging |
Het |
Zc3hav1 |
T |
C |
6: 38,308,784 (GRCm39) |
Y586C |
possibly damaging |
Het |
Zcchc4 |
T |
A |
5: 52,976,618 (GRCm39) |
F471I |
probably benign |
Het |
Zfp719 |
C |
A |
7: 43,240,108 (GRCm39) |
Y565* |
probably null |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGTGAACATTCTCCTGGACTG -3'
(R):5'- AGATCCACTGAGTCTGGAGAG -3'
Sequencing Primer
(F):5'- CTGGGAGGAGAGGGGTCTC -3'
(R):5'- TCTGGAGAGACGCTACGTG -3'
|
Posted On |
2018-05-21 |