Incidental Mutation 'IGL03131:Acvr2b'
ID 410342
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) question?
Stock # IGL03131
Quality Score
Status
Chromosome 9
Chromosomal Location 119231184-119264061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 119260350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 364 (F364L)
Ref Sequence ENSEMBL: ENSMUSP00000126108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035093] [ENSMUST00000165044] [ENSMUST00000215746]
AlphaFold P27040
Predicted Effect probably benign
Transcript: ENSMUST00000035093
AA Change: F356L

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035093
Gene: ENSMUSG00000061393
AA Change: F356L

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 possibly damaging
Transcript: ENSMUST00000165044
AA Change: F364L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126108
Gene: ENSMUSG00000061393
AA Change: F364L

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 benign
Transcript: ENSMUST00000215746
AA Change: F340L

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,473,251 (GRCm39) R135S unknown Het
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Abca12 A T 1: 71,385,861 (GRCm39) F252L probably benign Het
Abcd3 A T 3: 121,575,640 (GRCm39) probably benign Het
Adamts12 T C 15: 11,345,650 (GRCm39) C1564R probably damaging Het
Agap3 A G 5: 24,682,130 (GRCm39) T392A probably benign Het
Ano1 A G 7: 144,157,322 (GRCm39) F767L possibly damaging Het
Atg10 C A 13: 91,085,412 (GRCm39) R179I probably null Het
Bsph1 A T 7: 13,207,012 (GRCm39) K129N probably damaging Het
Calml4 A G 9: 62,782,765 (GRCm39) D77G probably benign Het
Cc2d1a T A 8: 84,870,056 (GRCm39) K153M probably damaging Het
Col4a2 G A 8: 11,475,979 (GRCm39) V672I probably benign Het
Crnkl1 T C 2: 145,774,178 (GRCm39) K95R probably benign Het
Crtap T C 9: 114,209,072 (GRCm39) D324G possibly damaging Het
Csmd1 C T 8: 16,138,231 (GRCm39) G1607E probably damaging Het
Dcbld2 T G 16: 58,272,051 (GRCm39) I369R probably benign Het
Dmc1 T A 15: 79,452,892 (GRCm39) I246L probably benign Het
Dock1 G T 7: 134,475,912 (GRCm39) V896L possibly damaging Het
Eftud2 G A 11: 102,761,009 (GRCm39) T112M probably damaging Het
F5 A T 1: 163,989,388 (GRCm39) I97F possibly damaging Het
Fasn C T 11: 120,701,550 (GRCm39) V1939M possibly damaging Het
Gpatch2l T C 12: 86,328,285 (GRCm39) V414A probably benign Het
Gpd2 T C 2: 57,228,855 (GRCm39) probably benign Het
Gria4 T G 9: 4,432,876 (GRCm39) N769T probably damaging Het
Gtf3c2 A T 5: 31,314,964 (GRCm39) F885I probably damaging Het
Ifi209 C T 1: 173,468,800 (GRCm39) T210I possibly damaging Het
Kmt2c A G 5: 25,520,359 (GRCm39) V1917A probably benign Het
Mad1l1 G A 5: 140,293,458 (GRCm39) A120V probably benign Het
Mef2c T C 13: 83,810,494 (GRCm39) I382T probably damaging Het
Ms4a14 A T 19: 11,285,056 (GRCm39) L171I probably benign Het
Myf6 T A 10: 107,330,132 (GRCm39) Q145L probably damaging Het
Myh3 G A 11: 66,981,935 (GRCm39) probably benign Het
Nbas A G 12: 13,329,417 (GRCm39) I121V probably benign Het
Ncoa2 A T 1: 13,247,398 (GRCm39) S342T probably damaging Het
Nlrp1b C T 11: 71,052,741 (GRCm39) D896N possibly damaging Het
Prss41 A G 17: 24,061,498 (GRCm39) Y98H probably benign Het
Ptpn13 A T 5: 103,665,425 (GRCm39) T450S probably benign Het
Rab39 G A 9: 53,597,861 (GRCm39) R135C probably damaging Het
Radil A G 5: 142,481,097 (GRCm39) V570A probably damaging Het
Sbno1 C T 5: 124,526,668 (GRCm39) R949Q probably damaging Het
Sec61a2 T A 2: 5,887,689 (GRCm39) K98* probably null Het
Serbp1 T A 6: 67,258,807 (GRCm39) probably null Het
Serpinb3c G T 1: 107,199,457 (GRCm39) Q355K probably benign Het
Slc34a3 T G 2: 25,121,246 (GRCm39) D307A probably benign Het
Smarcad1 T A 6: 65,051,937 (GRCm39) S357T probably damaging Het
Spag17 G A 3: 99,918,075 (GRCm39) D353N possibly damaging Het
Spdl1 T A 11: 34,721,592 (GRCm39) Q39L possibly damaging Het
Syne2 A C 12: 76,104,264 (GRCm39) Q5485P probably damaging Het
Synj1 C A 16: 90,785,056 (GRCm39) V227F probably damaging Het
Syt12 T C 19: 4,506,882 (GRCm39) T88A probably benign Het
Tasor C T 14: 27,183,136 (GRCm39) Q532* probably null Het
Tlr12 A G 4: 128,509,670 (GRCm39) F860S probably damaging Het
Trdn C A 10: 33,274,410 (GRCm39) S461* probably null Het
Trip4 G A 9: 65,764,727 (GRCm39) P413S probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null Het
Wnt9a T C 11: 59,221,855 (GRCm39) L251P probably damaging Het
Xrcc1 A T 7: 24,272,719 (GRCm39) K618* probably null Het
Zfp759 T C 13: 67,286,728 (GRCm39) L93P probably damaging 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
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