Incidental Mutation 'IGL01526:Acvr1'
ID89566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acvr1
Ensembl Gene ENSMUSG00000026836
Gene Nameactivin A receptor, type 1
SynonymsAlk-2, ActR-I, Acvrlk2, SKR1, ALK2, Tsk7L, D330013D15Rik, Acvr, ActRIA, Alk8
Accession Numbers

Genbank: NM_007394; MGI: 87911

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01526
Quality Score
Status
Chromosome2
Chromosomal Location58388644-58567157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58458985 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 388 (D388E)
Ref Sequence ENSEMBL: ENSMUSP00000108220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056376] [ENSMUST00000090935] [ENSMUST00000112599] [ENSMUST00000112601]
Predicted Effect probably benign
Transcript: ENSMUST00000056376
AA Change: D388E

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000056784
Gene: ENSMUSG00000026836
AA Change: D388E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Activin_recp 33 107 4e-14 PFAM
transmembrane domain 124 146 N/A INTRINSIC
GS 178 208 5.13e-16 SMART
Blast:STYKc 212 501 1e-25 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000090935
AA Change: D388E

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088453
Gene: ENSMUSG00000026836
AA Change: D388E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Activin_recp 33 107 4e-14 PFAM
transmembrane domain 124 146 N/A INTRINSIC
GS 178 208 5.13e-16 SMART
Blast:STYKc 212 501 1e-25 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112599
AA Change: D388E

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108218
Gene: ENSMUSG00000026836
AA Change: D388E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Activin_recp 33 107 1.4e-13 PFAM
transmembrane domain 124 146 N/A INTRINSIC
GS 178 208 5.13e-16 SMART
Blast:STYKc 212 501 1e-25 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112601
AA Change: D388E

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108220
Gene: ENSMUSG00000026836
AA Change: D388E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Activin_recp 33 107 4e-14 PFAM
transmembrane domain 124 146 N/A INTRINSIC
GS 178 208 5.13e-16 SMART
Blast:STYKc 212 501 1e-25 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145495
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth arrest and complete embryonic lethality due to gastrulation defects associated with abnormalities in primitive streak formation, embryonic epiblast morphology, and mesoderm and ectoderm development. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, knock-out(4) Targeted, other(3) Gene trapped(5)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,171 probably benign Het
4933430I17Rik G T 4: 62,532,621 R107L possibly damaging Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Art3 T C 5: 92,414,340 S354P probably damaging Het
Bpnt1 C A 1: 185,345,394 S102* probably null Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Pcid2 G A 8: 13,085,319 probably benign Het
Ppp1r3b G T 8: 35,384,718 R237L probably benign Het
Prdm11 A G 2: 93,012,757 V119A probably damaging Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Skap2 C T 6: 51,907,914 D249N probably benign Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc4a1ap C A 5: 31,528,227 T283K possibly damaging Het
Slc6a21 T G 7: 45,287,796 I575S probably damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in Acvr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Acvr1 APN 2 58447573 missense probably benign 0.00
IGL01392:Acvr1 APN 2 58500546 missense probably benign 0.01
IGL02524:Acvr1 APN 2 58448307 splice site probably benign
IGL02682:Acvr1 APN 2 58477811 missense probably benign 0.00
IGL02795:Acvr1 APN 2 58462952 missense probably damaging 1.00
R0084:Acvr1 UTSW 2 58458883 critical splice donor site probably null
R0452:Acvr1 UTSW 2 58500495 missense probably benign 0.13
R0746:Acvr1 UTSW 2 58500550 start codon destroyed probably null 0.01
R1484:Acvr1 UTSW 2 58479889 missense probably damaging 1.00
R1514:Acvr1 UTSW 2 58447585 nonsense probably null
R1645:Acvr1 UTSW 2 58462899 missense probably damaging 1.00
R1925:Acvr1 UTSW 2 58447649 missense probably damaging 0.99
R2435:Acvr1 UTSW 2 58479692 missense probably damaging 1.00
R2873:Acvr1 UTSW 2 58477796 nonsense probably null
R3729:Acvr1 UTSW 2 58462913 missense probably null 0.09
R3854:Acvr1 UTSW 2 58462934 missense probably damaging 1.00
R4438:Acvr1 UTSW 2 58477727 missense probably benign 0.00
R4863:Acvr1 UTSW 2 58477711 missense possibly damaging 0.60
R5543:Acvr1 UTSW 2 58463145 missense probably damaging 1.00
R5558:Acvr1 UTSW 2 58459017 missense probably damaging 1.00
R5618:Acvr1 UTSW 2 58462943 missense probably damaging 1.00
R6233:Acvr1 UTSW 2 58448399 missense probably benign 0.04
R6236:Acvr1 UTSW 2 58477666 missense probably benign 0.17
R6565:Acvr1 UTSW 2 58479757 missense probably damaging 1.00
R6912:Acvr1 UTSW 2 58447573 missense probably benign 0.00
R7739:Acvr1 UTSW 2 58462971 missense possibly damaging 0.47
R7912:Acvr1 UTSW 2 58474218 missense probably damaging 0.97
R8127:Acvr1 UTSW 2 58477626 missense probably benign 0.14
R8343:Acvr1 UTSW 2 58474274 critical splice acceptor site probably null
Z1176:Acvr1 UTSW 2 58479868 missense probably benign 0.00
Posted On2013-12-03