Incidental Mutation 'IGL03051:Acvr1b'
ID 409056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acvr1b
Ensembl Gene ENSMUSG00000000532
Gene Name activin A receptor, type 1B
Synonyms ActRIB, Acvrlk4, SKR2, Alk4, ActR-IB
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03051
Quality Score
Status
Chromosome 15
Chromosomal Location 101071953-101111565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101100959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 374 (R374G)
Ref Sequence ENSEMBL: ENSMUSP00000000544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000544]
AlphaFold Q61271
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,964,283 (GRCm39) probably benign Het
Abhd14a A T 9: 106,321,128 (GRCm39) F76I possibly damaging Het
Akap13 T A 7: 75,260,233 (GRCm39) C149* probably null Het
Appbp2 A T 11: 85,082,565 (GRCm39) D555E possibly damaging Het
Arhgap25 T C 6: 87,472,896 (GRCm39) Q87R probably null Het
Baz1b T A 5: 135,246,079 (GRCm39) N509K probably benign Het
Ccn4 T A 15: 66,778,399 (GRCm39) C73* probably null Het
Ces5a C A 8: 94,255,226 (GRCm39) G156C probably damaging Het
Chtf18 G A 17: 25,939,938 (GRCm39) R723W probably damaging Het
Clec4e A G 6: 123,266,692 (GRCm39) S6P probably benign Het
Dennd4a A G 9: 64,769,696 (GRCm39) I468V probably damaging Het
Epb41l4a A T 18: 34,007,825 (GRCm39) Y233N probably damaging Het
Fam210b C T 2: 172,194,612 (GRCm39) H155Y probably benign Het
Frmd4b A T 6: 97,272,943 (GRCm39) C770* probably null Het
Gpa33 A G 1: 165,992,790 (GRCm39) H301R probably benign Het
Gpr39 T A 1: 125,605,485 (GRCm39) C138S probably damaging Het
Gtf2i T A 5: 134,271,768 (GRCm39) K858* probably null Het
Ighv7-1 A T 12: 113,860,576 (GRCm39) probably benign Het
Iglv1 T C 16: 18,903,973 (GRCm39) T49A possibly damaging Het
Kif17 A C 4: 138,016,565 (GRCm39) D416A probably damaging Het
Mib2 T C 4: 155,741,747 (GRCm39) T431A probably damaging Het
Mpz G A 1: 170,986,380 (GRCm39) R98H probably damaging Het
Naa16 T C 14: 79,606,522 (GRCm39) E337G probably benign Het
Odam G A 5: 88,040,335 (GRCm39) probably benign Het
Or1e1f T A 11: 73,855,860 (GRCm39) L142H probably benign Het
Parp2 T C 14: 51,056,805 (GRCm39) probably benign Het
Pcdh7 T G 5: 58,286,415 (GRCm39) S1164A probably damaging Het
Pkp4 G T 2: 59,142,106 (GRCm39) A470S probably benign Het
Plin4 A T 17: 56,412,417 (GRCm39) M538K possibly damaging Het
Prex2 T C 1: 11,212,889 (GRCm39) V624A probably damaging Het
Rps6ka5 A C 12: 100,582,250 (GRCm39) probably null Het
Simc1 T C 13: 54,674,036 (GRCm39) S795P probably benign Het
Slc35b4 A T 6: 34,137,406 (GRCm39) probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Syt14 T C 1: 192,615,528 (GRCm39) N486S probably benign Het
Trim59 T C 3: 68,944,206 (GRCm39) N378S probably benign Het
Wdr17 T A 8: 55,104,349 (GRCm39) D908V probably damaging Het
Wdr74 A G 19: 8,716,875 (GRCm39) probably benign Het
Other mutations in Acvr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02983:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03010:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03011:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03013:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03127:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03166:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03265:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL02980:Acvr1b UTSW 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL02984:Acvr1b UTSW 15 101,100,959 (GRCm39) missense probably damaging 0.98
R1367:Acvr1b UTSW 15 101,091,819 (GRCm39) missense possibly damaging 0.58
R1498:Acvr1b UTSW 15 101,091,891 (GRCm39) missense probably benign
R1591:Acvr1b UTSW 15 101,091,905 (GRCm39) missense probably benign
R1757:Acvr1b UTSW 15 101,096,703 (GRCm39) missense possibly damaging 0.47
R1793:Acvr1b UTSW 15 101,091,906 (GRCm39) missense probably benign 0.01
R2223:Acvr1b UTSW 15 101,100,924 (GRCm39) missense probably benign 0.10
R2249:Acvr1b UTSW 15 101,100,975 (GRCm39) missense probably null 1.00
R4674:Acvr1b UTSW 15 101,100,939 (GRCm39) missense possibly damaging 0.94
R4676:Acvr1b UTSW 15 101,100,867 (GRCm39) missense probably damaging 1.00
R5151:Acvr1b UTSW 15 101,108,651 (GRCm39) missense probably damaging 1.00
R5223:Acvr1b UTSW 15 101,091,857 (GRCm39) missense probably damaging 1.00
R5397:Acvr1b UTSW 15 101,096,845 (GRCm39) missense probably damaging 0.99
R5574:Acvr1b UTSW 15 101,099,958 (GRCm39) missense probably benign 0.03
R5906:Acvr1b UTSW 15 101,091,772 (GRCm39) intron probably benign
R6025:Acvr1b UTSW 15 101,092,856 (GRCm39) missense probably benign 0.43
R6467:Acvr1b UTSW 15 101,092,722 (GRCm39) missense possibly damaging 0.86
R7158:Acvr1b UTSW 15 101,091,939 (GRCm39) missense probably benign
R8480:Acvr1b UTSW 15 101,108,720 (GRCm39) missense possibly damaging 0.47
R9502:Acvr1b UTSW 15 101,092,710 (GRCm39) missense probably benign
X0067:Acvr1b UTSW 15 101,091,903 (GRCm39) missense probably benign 0.10
Posted On 2016-08-02