Incidental Mutation 'IGL01714:Acvrl1'
ID104891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acvrl1
Ensembl Gene ENSMUSG00000000530
Gene Nameactivin A receptor, type II-like 1
SynonymsAlk-1, activin receptor-like kinase-1, Alk1, Acvrlk1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01714
Quality Score
Status
Chromosome15
Chromosomal Location101128522-101145336 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101137370 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 259 (I259N)
Ref Sequence ENSEMBL: ENSMUSP00000114027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000542] [ENSMUST00000117984] [ENSMUST00000119063] [ENSMUST00000120028] [ENSMUST00000120754] [ENSMUST00000121718] [ENSMUST00000124151] [ENSMUST00000130432] [ENSMUST00000144229]
Predicted Effect probably damaging
Transcript: ENSMUST00000000542
AA Change: I259N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: I259N

DomainStartEndE-ValueType
Pfam:Activin_recp 31 102 2.1e-10 PFAM
low complexity region 118 139 N/A INTRINSIC
GS 171 201 5.72e-14 SMART
Blast:TyrKc 207 478 1e-29 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000117984
AA Change: I259N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: I259N

DomainStartEndE-ValueType
PDB:2LCR|A 19 116 4e-43 PDB
low complexity region 118 139 N/A INTRINSIC
GS 171 201 5.72e-14 SMART
Blast:TyrKc 207 478 1e-29 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000119063
AA Change: I259N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: I259N

DomainStartEndE-ValueType
Pfam:Activin_recp 31 102 2.1e-10 PFAM
low complexity region 118 139 N/A INTRINSIC
GS 171 201 5.72e-14 SMART
Blast:TyrKc 207 478 1e-29 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000120028
AA Change: I259N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: I259N

DomainStartEndE-ValueType
Pfam:Activin_recp 31 102 2.1e-10 PFAM
low complexity region 118 139 N/A INTRINSIC
GS 171 201 5.72e-14 SMART
Blast:TyrKc 207 478 1e-29 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000120754
AA Change: I259N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: I259N

DomainStartEndE-ValueType
Pfam:Activin_recp 31 102 2.1e-10 PFAM
low complexity region 118 139 N/A INTRINSIC
GS 171 201 5.72e-14 SMART
Blast:TyrKc 207 478 1e-29 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000121718
AA Change: I259N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: I259N

DomainStartEndE-ValueType
Pfam:Activin_recp 31 102 2.1e-10 PFAM
low complexity region 118 139 N/A INTRINSIC
GS 171 201 5.72e-14 SMART
Blast:TyrKc 207 478 1e-29 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000124151
SMART Domains Protein: ENSMUSP00000114829
Gene: ENSMUSG00000000530

DomainStartEndE-ValueType
PDB:2LCR|A 19 76 8e-25 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128868
Predicted Effect probably benign
Transcript: ENSMUST00000130432
Predicted Effect probably benign
Transcript: ENSMUST00000144229
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 a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene die at midgestation with severe vascular abnormalities, including fusion of major arteries and veins. Mice heterozygous for one targeted mutation provide a suitable model for hereditary hemorrhagic telangiectasia type 2. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,569 probably null Het
Ahctf1 A G 1: 179,795,877 S59P probably damaging Het
Bcas1 T C 2: 170,384,182 probably benign Het
Ccdc33 T C 9: 58,029,870 N682S possibly damaging Het
Celf1 T C 2: 91,009,207 S326P possibly damaging Het
Cntn1 T A 15: 92,253,989 C436* probably null Het
Cyp2d40 T G 15: 82,761,240 D142A possibly damaging Het
Dnhd1 C T 7: 105,720,942 L4525F probably damaging Het
Drosha A G 15: 12,878,784 Y732C probably damaging Het
Edn1 A G 13: 42,305,014 N101S probably benign Het
Faxc C T 4: 21,936,688 P108S probably damaging Het
Glb1l2 C T 9: 26,768,418 probably null Het
Gm20498 A G 12: 81,510,890 I47T probably damaging Het
Gm4952 G T 19: 12,624,711 R161L probably benign Het
Hipk2 A T 6: 38,819,182 Y51N probably damaging Het
Id4 T G 13: 48,261,790 I98S probably damaging Het
Klf6 T C 13: 5,866,659 S268P probably benign Het
Kmt2c G T 5: 25,313,400 T2427N probably benign Het
Lrp3 T G 7: 35,206,071 probably null Het
Lrrc66 A G 5: 73,629,977 I10T probably benign Het
Mapkap1 T G 2: 34,518,843 V281G probably damaging Het
Ncor1 T A 11: 62,334,584 I1054F possibly damaging Het
Olfr1061 T C 2: 86,413,800 N84S probably benign Het
Ppp1r9b C A 11: 95,005,354 T817N probably damaging Het
Prkd2 T A 7: 16,863,942 I659N probably damaging Het
Radil T C 5: 142,543,397 probably benign Het
Smarcd1 C T 15: 99,712,421 T474I probably damaging Het
Srd5a1 C T 13: 69,611,062 W62* probably null Het
St5 A G 7: 109,570,062 S9P probably damaging Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Ttn T A 2: 76,857,179 probably benign Het
Vmn1r77 A T 7: 12,041,350 I18F probably benign Het
Xrcc5 A T 1: 72,329,984 K332N probably damaging Het
Other mutations in Acvrl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Acvrl1 APN 15 101143340 splice site probably null
IGL00780:Acvrl1 APN 15 101137367 missense probably damaging 1.00
IGL02962:Acvrl1 APN 15 101135501 missense probably benign 0.00
IGL03268:Acvrl1 APN 15 101135922 missense possibly damaging 0.48
IGL03341:Acvrl1 APN 15 101137596 missense probably damaging 1.00
R0256:Acvrl1 UTSW 15 101137121 missense probably damaging 1.00
R0538:Acvrl1 UTSW 15 101136149 missense probably damaging 0.99
R1666:Acvrl1 UTSW 15 101137577 missense probably damaging 1.00
R2402:Acvrl1 UTSW 15 101137399 missense probably damaging 1.00
R3789:Acvrl1 UTSW 15 101137469 missense probably damaging 0.98
R4720:Acvrl1 UTSW 15 101135773 missense probably damaging 1.00
R4844:Acvrl1 UTSW 15 101135528 missense probably damaging 0.98
R4995:Acvrl1 UTSW 15 101135860 missense probably benign 0.00
R5053:Acvrl1 UTSW 15 101137369 missense probably damaging 1.00
R5093:Acvrl1 UTSW 15 101134747 unclassified probably null
R5191:Acvrl1 UTSW 15 101137065 missense probably damaging 0.99
R6981:Acvrl1 UTSW 15 101138345 missense probably damaging 1.00
Posted On2014-01-21