Incidental Mutation 'IGL03013:Acvr1b'
ID407854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acvr1b
Ensembl Gene ENSMUSG00000000532
Gene Nameactivin A receptor, type 1B
SynonymsActR-IB, ActRIB, Alk4, SKR2, Acvrlk4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03013
Quality Score
Status
Chromosome15
Chromosomal Location101174067-101213684 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101203078 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 374 (R374G)
Ref Sequence ENSEMBL: ENSMUSP00000000544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000544]
Predicted Effect probably damaging
Transcript: ENSMUST00000000544
AA Change: R374G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000544
Gene: ENSMUSG00000000532
AA Change: R374G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Activin_recp 32 108 4.1e-13 PFAM
transmembrane domain 127 149 N/A INTRINSIC
GS 177 207 1.89e-14 SMART
Blast:STYKc 209 494 2e-26 BLAST
Meta Mutation Damage Score 0.7466 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an activin A type IB receptor. 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 and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
PHENOTYPE: Embryos homozygous for targeted mutations that inactivate the gene arrest at the egg cylinder stage, prior to gastrulation, showing epiblast and extraembryonic ectoderm disorganization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B3galt6 G A 4: 155,991,758 Q287* probably null Het
C2 A G 17: 34,872,459 V353A probably damaging Het
Cntnap2 A T 6: 47,095,549 Y1017F possibly damaging Het
Copz1 T A 15: 103,296,568 M118K probably benign Het
Dnm1 T C 2: 32,336,284 N298D probably benign Het
Exog T C 9: 119,462,613 S295P possibly damaging Het
Ext2 A T 2: 93,707,226 probably benign Het
Fam71e2 A G 7: 4,758,633 L360S probably benign Het
Gm16427 A T 5: 93,482,532 S394T probably damaging Het
Gpatch8 T C 11: 102,508,197 I70V unknown Het
Krt5 T A 15: 101,711,668 I205L probably benign Het
Leng9 A G 7: 4,148,738 V313A probably damaging Het
Macrod2 A G 2: 141,515,227 I148V probably benign Het
Mapk14 G T 17: 28,728,349 probably benign Het
Mfsd4b3 A T 10: 39,947,895 M123K probably benign Het
Mmp8 A G 9: 7,561,689 D205G probably benign Het
Muc5b A T 7: 141,863,928 H3537L possibly damaging Het
Nde1 C T 16: 14,191,747 P324L probably benign Het
Nlrp9b A T 7: 20,048,825 H888L probably damaging Het
Npy2r A G 3: 82,540,512 F319L probably damaging Het
Nup210 A G 6: 91,053,379 V156A probably benign Het
Nxph2 T C 2: 23,399,933 I99T probably benign Het
Parpbp A G 10: 88,139,978 I91T probably damaging Het
Pld2 A G 11: 70,541,177 Y75C probably damaging Het
Pramef8 A G 4: 143,417,467 T128A possibly damaging Het
Prkcb C A 7: 122,627,682 D630E probably damaging Het
Prl3c1 T C 13: 27,199,366 V5A probably benign Het
Sdcbp2 A G 2: 151,587,335 T192A probably benign Het
Sema6a C T 18: 47,248,394 A1046T probably benign Het
Serpinb3a A G 1: 107,046,083 F366S probably damaging Het
Serpinb9d T A 13: 33,196,538 W136R probably damaging Het
Smc2 G T 4: 52,442,280 V66F probably damaging Het
Speg A G 1: 75,431,279 D3206G probably damaging Het
Syne2 C T 12: 75,929,337 A1187V probably benign Het
Trove2 A G 1: 143,770,708 S100P probably damaging Het
Unc5cl G A 17: 48,465,021 M442I possibly damaging Het
Other mutations in Acvr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02983:Acvr1b APN 15 101203078 missense probably damaging 0.98
IGL03010:Acvr1b APN 15 101203078 missense probably damaging 0.98
IGL03011:Acvr1b APN 15 101203078 missense probably damaging 0.98
IGL03051:Acvr1b APN 15 101203078 missense probably damaging 0.98
IGL03127:Acvr1b APN 15 101203078 missense probably damaging 0.98
IGL03166:Acvr1b APN 15 101203078 missense probably damaging 0.98
IGL03265:Acvr1b APN 15 101203078 missense probably damaging 0.98
IGL02980:Acvr1b UTSW 15 101203078 missense probably damaging 0.98
IGL02984:Acvr1b UTSW 15 101203078 missense probably damaging 0.98
R1367:Acvr1b UTSW 15 101193938 missense possibly damaging 0.58
R1498:Acvr1b UTSW 15 101194010 missense probably benign
R1591:Acvr1b UTSW 15 101194024 missense probably benign
R1757:Acvr1b UTSW 15 101198822 missense possibly damaging 0.47
R1793:Acvr1b UTSW 15 101194025 missense probably benign 0.01
R2223:Acvr1b UTSW 15 101203043 missense probably benign 0.10
R2249:Acvr1b UTSW 15 101203094 missense probably null 1.00
R4674:Acvr1b UTSW 15 101203058 missense possibly damaging 0.94
R4676:Acvr1b UTSW 15 101202986 missense probably damaging 1.00
R5151:Acvr1b UTSW 15 101210770 missense probably damaging 1.00
R5223:Acvr1b UTSW 15 101193976 missense probably damaging 1.00
R5397:Acvr1b UTSW 15 101198964 missense probably damaging 0.99
R5574:Acvr1b UTSW 15 101202077 missense probably benign 0.03
R5906:Acvr1b UTSW 15 101193891 intron probably benign
R6025:Acvr1b UTSW 15 101194975 missense probably benign 0.43
R6467:Acvr1b UTSW 15 101194841 missense possibly damaging 0.86
R7158:Acvr1b UTSW 15 101194058 missense probably benign
X0067:Acvr1b UTSW 15 101194022 missense probably benign 0.10
Posted On2016-08-02