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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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