Incidental Mutation 'R8971:Acvrl1'
ID 683127
Institutional Source Beutler Lab
Gene Symbol Acvrl1
Ensembl Gene ENSMUSG00000000530
Gene Name activin A receptor, type II-like 1
Synonyms activin receptor-like kinase-1, Alk-1, Acvrlk1, Alk1
MMRRC Submission 068805-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8971 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 101026403-101043217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101033404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 97 (N97S)
Ref Sequence ENSEMBL: ENSMUSP00000000542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000542] [ENSMUST00000117984] [ENSMUST00000119063] [ENSMUST00000120028] [ENSMUST00000120754] [ENSMUST00000121718] [ENSMUST00000124151] [ENSMUST00000130432] [ENSMUST00000144229]
AlphaFold Q61288
Predicted Effect possibly damaging
Transcript: ENSMUST00000000542
AA Change: N97S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000542
Gene: ENSMUSG00000000530
AA Change: N97S

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 possibly damaging
Transcript: ENSMUST00000117984
AA Change: N97S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113505
Gene: ENSMUSG00000000530
AA Change: N97S

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 possibly damaging
Transcript: ENSMUST00000119063
AA Change: N97S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113536
Gene: ENSMUSG00000000530
AA Change: N97S

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 possibly damaging
Transcript: ENSMUST00000120028
AA Change: N97S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113297
Gene: ENSMUSG00000000530
AA Change: N97S

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 possibly damaging
Transcript: ENSMUST00000120754
AA Change: N97S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112490
Gene: ENSMUSG00000000530
AA Change: N97S

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 possibly damaging
Transcript: ENSMUST00000121718
AA Change: N97S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114027
Gene: ENSMUSG00000000530
AA Change: N97S

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 probably benign
Transcript: ENSMUST00000130432
Predicted Effect probably benign
Transcript: ENSMUST00000144229
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik T C 14: 34,236,383 (GRCm39) H44R unknown Het
Acp6 C T 3: 97,078,961 (GRCm39) H254Y probably damaging Het
Afm T A 5: 90,696,675 (GRCm39) V455E probably damaging Het
Ankrd44 G T 1: 54,692,952 (GRCm39) D927E probably benign Het
Ap2a2 T C 7: 141,191,258 (GRCm39) V275A probably benign Het
Arfgef2 A T 2: 166,701,221 (GRCm39) Q673L probably damaging Het
Atp6v0a2 T C 5: 124,797,061 (GRCm39) F814L probably damaging Het
Axdnd1 G A 1: 156,219,516 (GRCm39) A193V Het
Bicra T A 7: 15,721,481 (GRCm39) I679L probably benign Het
Ccm2l G A 2: 152,909,756 (GRCm39) R36H probably damaging Het
Cd160 T A 3: 96,713,102 (GRCm39) D54V probably damaging Het
Cela3a C T 4: 137,133,222 (GRCm39) G50D probably benign Het
Cep152 T A 2: 125,421,770 (GRCm39) R987* probably null Het
Cnnm2 T C 19: 46,845,362 (GRCm39) V618A probably benign Het
Crim1 G A 17: 78,653,409 (GRCm39) R593Q possibly damaging Het
Ctsc A G 7: 87,959,024 (GRCm39) S435G probably benign Het
Dcbld1 G T 10: 52,195,958 (GRCm39) A460S probably benign Het
Dcbld2 A G 16: 58,276,715 (GRCm39) E502G probably benign Het
Dhx30 A T 9: 109,913,513 (GRCm39) L1207* probably null Het
Dlx2 A T 2: 71,376,716 (GRCm39) S7R possibly damaging Het
Dmwd T A 7: 18,814,973 (GRCm39) I541N probably damaging Het
Dmxl1 T G 18: 49,997,575 (GRCm39) L588V possibly damaging Het
Dmxl1 C T 18: 50,026,741 (GRCm39) P1950S probably damaging Het
Dnhd1 T A 7: 105,358,528 (GRCm39) L3339* probably null Het
Elovl1 C A 4: 118,288,709 (GRCm39) P160Q probably damaging Het
Epg5 T A 18: 78,022,434 (GRCm39) L1059Q probably damaging Het
Fam149b C T 14: 20,402,777 (GRCm39) S53F probably benign Het
Fat1 T A 8: 45,495,331 (GRCm39) C4140S probably damaging Het
Gria2 C T 3: 80,615,200 (GRCm39) V427I probably damaging Het
H2al2a C A 2: 18,001,537 (GRCm39) A50S probably damaging Het
Hspbp1 T C 7: 4,684,858 (GRCm39) M132V possibly damaging Het
Igsf9 C T 1: 172,312,033 (GRCm39) probably benign Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Katnb1 G A 8: 95,822,987 (GRCm39) R394Q probably damaging Het
Kif1b A T 4: 149,332,273 (GRCm39) D553E probably damaging Het
Kif3a T A 11: 53,474,189 (GRCm39) L251Q probably damaging Het
Klb T A 5: 65,533,026 (GRCm39) I445K probably damaging Het
Klhl29 T A 12: 5,190,710 (GRCm39) probably null Het
Lipf A G 19: 33,942,273 (GRCm39) K68E probably benign Het
Lnx2 T A 5: 146,970,236 (GRCm39) I169L probably benign Het
Lrba A C 3: 86,522,388 (GRCm39) I2223L probably benign Het
Lrp1 C T 10: 127,391,896 (GRCm39) D2890N possibly damaging Het
Lrp1b T C 2: 41,325,640 (GRCm39) T926A Het
Lrrc37a T A 11: 103,391,490 (GRCm39) I1312F probably benign Het
Lrrc71 T C 3: 87,647,153 (GRCm39) H477R possibly damaging Het
Lrrc8e T C 8: 4,284,141 (GRCm39) V122A probably damaging Het
Lsm14b T C 2: 179,667,107 (GRCm39) probably null Het
Magel2 A C 7: 62,029,999 (GRCm39) I968L unknown Het
Mapkbp1 T C 2: 119,850,050 (GRCm39) V771A probably benign Het
Mtmr4 T C 11: 87,493,626 (GRCm39) S295P probably benign Het
Nanos3 T A 8: 84,902,815 (GRCm39) T116S probably benign Het
Nectin3 T C 16: 46,269,265 (GRCm39) D379G probably benign Het
Nelfa T C 5: 34,093,539 (GRCm39) H14R possibly damaging Het
Nnt A G 13: 119,502,967 (GRCm39) W593R unknown Het
Nudt2 A T 4: 41,477,575 (GRCm39) M19L probably benign Het
Or4c115 T A 2: 88,927,891 (GRCm39) K127* probably null Het
Or52p1 A T 7: 104,267,467 (GRCm39) T194S probably damaging Het
Or5m13b T C 2: 85,754,328 (GRCm39) S239P probably damaging Het
Or5w22 T A 2: 87,362,580 (GRCm39) C68S probably benign Het
Or6f1 T A 7: 85,970,369 (GRCm39) I264F possibly damaging Het
Palld A T 8: 61,969,735 (GRCm39) D1196E unknown Het
Parl A G 16: 20,116,909 (GRCm39) L96P probably damaging Het
Pip4k2a T C 2: 18,852,367 (GRCm39) D305G probably benign Het
Pkhd1l1 T C 15: 44,392,915 (GRCm39) V1750A possibly damaging Het
Prkdc A G 16: 15,493,229 (GRCm39) E712G probably null Het
Rasgrf2 T C 13: 92,158,225 (GRCm39) E532G possibly damaging Het
Rbp3 T A 14: 33,677,792 (GRCm39) L580Q probably damaging Het
Ribc2 G T 15: 85,016,337 (GRCm39) probably benign Het
Rmnd5b T C 11: 51,515,322 (GRCm39) S315G probably benign Het
Rp1l1 T A 14: 64,259,445 (GRCm39) V29E probably damaging Het
Sclt1 T C 3: 41,681,541 (GRCm39) T93A probably benign Het
Shroom1 T A 11: 53,355,994 (GRCm39) L348H probably damaging Het
Slc13a1 T C 6: 24,090,785 (GRCm39) K545E probably benign Het
Slc20a2 C T 8: 23,030,396 (GRCm39) P151S probably damaging Het
Slc22a4 T C 11: 53,879,718 (GRCm39) Y447C probably damaging Het
Slu7 C A 11: 43,333,480 (GRCm39) Q367K probably benign Het
Spen T C 4: 141,201,889 (GRCm39) N2246S possibly damaging Het
Tac4 T G 11: 95,156,045 (GRCm39) I42S possibly damaging Het
Tmem87a A G 2: 120,190,541 (GRCm39) V530A Het
Tnrc6c T C 11: 117,640,089 (GRCm39) I1208T possibly damaging Het
Vmn1r230 C T 17: 21,067,321 (GRCm39) T170I possibly damaging Het
Vps29 A G 5: 122,498,212 (GRCm39) D51G probably benign Het
Washc2 T C 6: 116,231,399 (GRCm39) L874P probably damaging Het
Wdr5b T C 16: 35,861,926 (GRCm39) L15P probably benign Het
Zscan20 T A 4: 128,479,847 (GRCm39) Q881H probably damaging Het
Zscan20 T G 4: 128,479,848 (GRCm39) Q881P probably damaging Het
Other mutations in Acvrl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Acvrl1 APN 15 101,041,221 (GRCm39) splice site probably null
IGL00780:Acvrl1 APN 15 101,035,248 (GRCm39) missense probably damaging 1.00
IGL01714:Acvrl1 APN 15 101,035,251 (GRCm39) missense probably damaging 1.00
IGL02962:Acvrl1 APN 15 101,033,382 (GRCm39) missense probably benign 0.00
IGL03268:Acvrl1 APN 15 101,033,803 (GRCm39) missense possibly damaging 0.48
IGL03341:Acvrl1 APN 15 101,035,477 (GRCm39) missense probably damaging 1.00
R0256:Acvrl1 UTSW 15 101,035,002 (GRCm39) missense probably damaging 1.00
R0538:Acvrl1 UTSW 15 101,034,030 (GRCm39) missense probably damaging 0.99
R1666:Acvrl1 UTSW 15 101,035,458 (GRCm39) missense probably damaging 1.00
R2402:Acvrl1 UTSW 15 101,035,280 (GRCm39) missense probably damaging 1.00
R3789:Acvrl1 UTSW 15 101,035,350 (GRCm39) missense probably damaging 0.98
R4720:Acvrl1 UTSW 15 101,033,654 (GRCm39) missense probably damaging 1.00
R4844:Acvrl1 UTSW 15 101,033,409 (GRCm39) missense probably damaging 0.98
R4995:Acvrl1 UTSW 15 101,033,741 (GRCm39) missense probably benign 0.00
R5053:Acvrl1 UTSW 15 101,035,250 (GRCm39) missense probably damaging 1.00
R5093:Acvrl1 UTSW 15 101,032,628 (GRCm39) splice site probably null
R5191:Acvrl1 UTSW 15 101,034,946 (GRCm39) missense probably damaging 0.99
R6981:Acvrl1 UTSW 15 101,036,226 (GRCm39) missense probably damaging 1.00
R7224:Acvrl1 UTSW 15 101,041,245 (GRCm39) missense probably benign 0.17
R7231:Acvrl1 UTSW 15 101,034,104 (GRCm39) nonsense probably null
R7326:Acvrl1 UTSW 15 101,038,953 (GRCm39) missense probably damaging 0.97
R7555:Acvrl1 UTSW 15 101,041,354 (GRCm39) missense probably benign 0.05
R7569:Acvrl1 UTSW 15 101,033,636 (GRCm39) missense probably benign 0.00
R7627:Acvrl1 UTSW 15 101,033,747 (GRCm39) missense probably benign 0.08
R9038:Acvrl1 UTSW 15 101,039,011 (GRCm39) missense possibly damaging 0.82
R9108:Acvrl1 UTSW 15 101,039,038 (GRCm39) missense probably damaging 1.00
R9398:Acvrl1 UTSW 15 101,034,924 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCCAAGCTGGTGAACTGC -3'
(R):5'- ACATTGAGTCCCAGCTCCAC -3'

Sequencing Primer
(F):5'- CAAGCTGGTGAACTGCACTTG -3'
(R):5'- AGCTCTCCTGACCCTGAG -3'
Posted On 2021-10-11