Incidental Mutation 'IGL03010:Acvr1b'
ID 407733
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 # IGL03010
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 T C 1: 171,078,985 (GRCm39) C202R probably damaging Het
Afap1l1 T C 18: 61,876,390 (GRCm39) D409G probably benign Het
Atp6v1b2 T C 8: 69,558,534 (GRCm39) I334T probably damaging Het
Btn2a2 A T 13: 23,670,375 (GRCm39) Y119* probably null Het
Cct2 T C 10: 116,894,019 (GRCm39) D245G probably damaging Het
Ercc2 A G 7: 19,125,491 (GRCm39) K486E possibly damaging Het
Fam186b T C 15: 99,178,508 (GRCm39) S273G possibly damaging Het
Fbxw24 T A 9: 109,452,678 (GRCm39) I106L probably benign Het
Ghrhr T C 6: 55,361,742 (GRCm39) I303T probably damaging Het
Habp2 T C 19: 56,299,655 (GRCm39) probably null Het
Haus3 T A 5: 34,323,631 (GRCm39) E326D probably benign Het
Hdac7 C T 15: 97,691,810 (GRCm39) probably null Het
Hectd2 T A 19: 36,593,002 (GRCm39) D722E probably benign Het
Il20ra G T 10: 19,624,960 (GRCm39) G80W probably damaging Het
Jag1 T C 2: 136,935,118 (GRCm39) probably benign Het
Lrp1b A G 2: 42,213,618 (GRCm39) S65P possibly damaging Het
Lypd2 A G 15: 74,606,102 (GRCm39) I12T probably benign Het
Nat2 T A 8: 67,954,664 (GRCm39) L258Q probably damaging Het
Nwd1 T C 8: 73,414,688 (GRCm39) probably benign Het
Or2y1b T A 11: 49,208,973 (GRCm39) V200E probably damaging Het
Or5ac24 A G 16: 59,165,135 (GRCm39) probably benign Het
Or6c3 G T 10: 129,308,843 (GRCm39) C94F probably damaging Het
Pcdh15 T A 10: 74,221,777 (GRCm39) D692E probably damaging Het
Prkcz G T 4: 155,371,262 (GRCm39) H134N probably damaging Het
Prmt8 T C 6: 127,706,498 (GRCm39) T98A probably benign Het
Rps6kc1 C A 1: 190,643,803 (GRCm39) E19* probably null Het
Rrp8 A G 7: 105,383,598 (GRCm39) S223P probably benign Het
Septin10 G A 10: 59,006,777 (GRCm39) probably benign Het
Serpinb7 T C 1: 107,379,741 (GRCm39) probably benign Het
Spaca6 C A 17: 18,058,667 (GRCm39) Q72K probably benign Het
Spag1 A G 15: 36,233,419 (GRCm39) H712R probably benign Het
Spg11 C A 2: 121,918,801 (GRCm39) A943S probably damaging Het
Tmem104 T C 11: 115,134,360 (GRCm39) S298P probably benign Het
Ttn A G 2: 76,565,432 (GRCm39) I28265T probably damaging Het
Usp33 G T 3: 152,074,233 (GRCm39) V360F probably benign Het
Vmn2r113 A G 17: 23,175,038 (GRCm39) T550A possibly damaging Het
Zscan4d A T 7: 10,897,070 (GRCm39) V128D probably damaging Het
Other mutations in Acvr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02983: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