Incidental Mutation 'IGL03010:Acvr1b'
ID407733
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 #IGL03010
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 T C 1: 171,251,416 C202R probably damaging Het
Afap1l1 T C 18: 61,743,319 D409G probably benign Het
Atp6v1b2 T C 8: 69,105,882 I334T probably damaging Het
Btn2a2 A T 13: 23,486,205 Y119* probably null Het
Cct2 T C 10: 117,058,114 D245G probably damaging Het
Ercc2 A G 7: 19,391,566 K486E possibly damaging Het
Fam186b T C 15: 99,280,627 S273G possibly damaging Het
Fbxw24 T A 9: 109,623,610 I106L probably benign Het
Ghrhr T C 6: 55,384,757 I303T probably damaging Het
Habp2 T C 19: 56,311,223 probably null Het
Haus3 T A 5: 34,166,287 E326D probably benign Het
Hdac7 C T 15: 97,793,929 probably null Het
Hectd2 T A 19: 36,615,602 D722E probably benign Het
Il20ra G T 10: 19,749,212 G80W probably damaging Het
Jag1 T C 2: 137,093,198 probably benign Het
Lrp1b A G 2: 42,323,606 S65P possibly damaging Het
Lypd2 A G 15: 74,734,253 I12T probably benign Het
Nat2 T A 8: 67,502,012 L258Q probably damaging Het
Nwd1 T C 8: 72,688,060 probably benign Het
Olfr10 T A 11: 49,318,146 V200E probably damaging Het
Olfr206 A G 16: 59,344,772 probably benign Het
Olfr788 G T 10: 129,472,974 C94F probably damaging Het
Pcdh15 T A 10: 74,385,945 D692E probably damaging Het
Prkcz G T 4: 155,286,805 H134N probably damaging Het
Prmt8 T C 6: 127,729,535 T98A probably benign Het
Rps6kc1 C A 1: 190,911,606 E19* probably null Het
Rrp8 A G 7: 105,734,391 S223P probably benign Het
Sept10 G A 10: 59,170,955 probably benign Het
Serpinb7 T C 1: 107,452,011 probably benign Het
Spaca6 C A 17: 17,838,405 Q72K probably benign Het
Spag1 A G 15: 36,233,273 H712R probably benign Het
Spg11 C A 2: 122,088,320 A943S probably damaging Het
Tmem104 T C 11: 115,243,534 S298P probably benign Het
Ttn A G 2: 76,735,088 I28265T probably damaging Het
Usp33 G T 3: 152,368,596 V360F probably benign Het
Vmn2r113 A G 17: 22,956,064 T550A possibly damaging Het
Zscan4d A T 7: 11,163,143 V128D probably damaging Het
Other mutations in Acvr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02983:Acvr1b APN 15 101203078 missense probably damaging 0.98
IGL03011:Acvr1b APN 15 101203078 missense probably damaging 0.98
IGL03013: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