Incidental Mutation 'IGL02983:Acvr1b'
ID 406630
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 # IGL02983
Quality Score
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

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,240,663 (GRCm39) N842S probably benign Het
Brip1 T C 11: 86,029,950 (GRCm39) I565V probably benign Het
Camta2 C T 11: 70,562,848 (GRCm39) R959Q probably damaging Het
Cbln2 A G 18: 86,731,504 (GRCm39) E104G probably benign Het
Cdc42ep4 T C 11: 113,619,995 (GRCm39) K132R probably benign Het
Clcnka T A 4: 141,117,442 (GRCm39) I452F probably damaging Het
Clec4a3 T A 6: 122,944,526 (GRCm39) probably null Het
Crat A C 2: 30,294,538 (GRCm39) probably null Het
Cspp1 A G 1: 10,197,750 (GRCm39) K227R probably benign Het
Ddx1 A T 12: 13,273,863 (GRCm39) I588N probably damaging Het
Dip2b G T 15: 100,029,903 (GRCm39) R98L possibly damaging Het
Dock5 G A 14: 68,002,119 (GRCm39) P1617L probably damaging Het
Fa2h C T 8: 112,073,154 (GRCm39) probably null Het
Fezf1 T A 6: 23,247,871 (GRCm39) N68I probably damaging Het
Gabrb2 A T 11: 42,312,227 (GRCm39) L17F probably benign Het
Gm17078 T C 14: 51,848,647 (GRCm39) K30R probably benign Het
Gramd4 G A 15: 86,011,219 (GRCm39) V249M probably damaging Het
Kcnd2 A C 6: 21,216,554 (GRCm39) D86A probably damaging Het
Lrp1 T C 10: 127,386,068 (GRCm39) E3486G probably damaging Het
Ltb A G 17: 35,413,646 (GRCm39) D50G probably benign Het
Med18 A T 4: 132,186,997 (GRCm39) Y167* probably null Het
Nat14 G A 7: 4,927,127 (GRCm39) A100T probably damaging Het
Nscme3l A G 19: 5,553,209 (GRCm39) F191L possibly damaging Het
Nxph2 T C 2: 23,290,374 (GRCm39) V242A probably damaging Het
Or1j10 T A 2: 36,267,649 (GRCm39) I287N probably damaging Het
Or1x2 T C 11: 50,918,207 (GRCm39) V126A probably damaging Het
Or2a55-ps1 T C 6: 43,071,582 (GRCm39) noncoding transcript Het
Or6c219 T A 10: 129,781,058 (GRCm39) N291I probably damaging Het
Pramel15 T C 4: 144,099,697 (GRCm39) E356G probably benign Het
Rad21l A G 2: 151,497,040 (GRCm39) L358S probably damaging Het
Rasgef1c A G 11: 49,847,876 (GRCm39) T4A possibly damaging Het
Spata31d1a A G 13: 59,851,508 (GRCm39) S207P possibly damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Szt2 T C 4: 118,222,976 (GRCm39) probably benign Het
Taf6 T C 5: 138,177,142 (GRCm39) T642A probably benign Het
Tmem30a A T 9: 79,678,725 (GRCm39) M277K possibly damaging Het
Vmn1r86 T C 7: 12,836,741 (GRCm39) D45G probably damaging Het
Xkr5 T C 8: 18,983,848 (GRCm39) I565V probably benign Het
Zfp526 C T 7: 24,923,840 (GRCm39) A33V probably benign Het
Other mutations in Acvr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03051: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