Incidental Mutation 'R0746:Acvr1'
ID 70117
Institutional Source Beutler Lab
Gene Symbol Acvr1
Ensembl Gene ENSMUSG00000026836
Gene Name activin A receptor, type 1
Synonyms Alk8, Tsk7L, SKR1, D330013D15Rik, ActRIA, ALK2, Acvr1a, Acvr, Alk-2, Acvrlk2, ActR-I
MMRRC Submission 038927-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0746 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 58336450-58456840 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 58390562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000120755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056376] [ENSMUST00000090935] [ENSMUST00000112599] [ENSMUST00000112601] [ENSMUST00000126407]
AlphaFold P37172
Predicted Effect probably null
Transcript: ENSMUST00000056376
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056784
Gene: ENSMUSG00000026836
AA Change: M1V

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 null
Transcript: ENSMUST00000090935
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088453
Gene: ENSMUSG00000026836
AA Change: M1V

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 null
Transcript: ENSMUST00000112599
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108218
Gene: ENSMUSG00000026836
AA Change: M1V

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 null
Transcript: ENSMUST00000112601
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108220
Gene: ENSMUSG00000026836
AA Change: M1V

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 null
Transcript: ENSMUST00000126407
AA Change: M1V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000120755
Gene: ENSMUSG00000026836
AA Change: M1V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Activin_recp 33 107 3.9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145495
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T C 17: 79,935,715 (GRCm39) probably benign Het
Adamts10 T A 17: 33,768,521 (GRCm39) C866* probably null Het
Adgrv1 G A 13: 81,718,675 (GRCm39) P4S probably benign Het
Arhgef37 A G 18: 61,651,064 (GRCm39) probably null Het
Arid4b A G 13: 14,317,623 (GRCm39) T169A probably benign Het
Bltp3b T A 10: 89,641,316 (GRCm39) I829K probably benign Het
Cabp7 A T 11: 4,688,900 (GRCm39) I190N probably damaging Het
Capn13 A C 17: 73,658,503 (GRCm39) D188E probably benign Het
Ces1d A G 8: 93,916,096 (GRCm39) F177S probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Csmd2 T A 4: 128,308,090 (GRCm39) C1283S probably damaging Het
Cul1 T C 6: 47,495,222 (GRCm39) probably null Het
F7 T G 8: 13,084,740 (GRCm39) S255R probably benign Het
Fanci T A 7: 79,089,429 (GRCm39) I955N probably damaging Het
Focad C A 4: 88,315,451 (GRCm39) D1536E possibly damaging Het
Fus A G 7: 127,584,596 (GRCm39) probably benign Het
Gpr146 C T 5: 139,378,977 (GRCm39) R260W probably damaging Het
Grid1 T C 14: 34,544,647 (GRCm39) F73L possibly damaging Het
Ilf2 T A 3: 90,390,114 (GRCm39) V142D probably damaging Het
Kcna2 A G 3: 107,012,484 (GRCm39) D355G probably benign Het
Mgat4c T C 10: 102,224,548 (GRCm39) F254S probably damaging Het
Mrps10 A C 17: 47,683,564 (GRCm39) R139S probably benign Het
Myh2 A G 11: 67,064,257 (GRCm39) T71A probably benign Het
Myo1d A C 11: 80,477,705 (GRCm39) Y893D possibly damaging Het
Ncapd2 T C 6: 125,151,227 (GRCm39) E760G possibly damaging Het
Or10ab5 A T 7: 108,245,248 (GRCm39) D178E probably damaging Het
Or11h6 T A 14: 50,880,232 (GRCm39) probably null Het
Pkhd1 T A 1: 20,268,331 (GRCm39) D3349V probably damaging Het
Ptprn2 A C 12: 116,864,637 (GRCm39) M551L probably benign Het
Ptprq A G 10: 107,353,692 (GRCm39) Y2275H probably damaging Het
Rfx7 A G 9: 72,526,388 (GRCm39) T1193A probably benign Het
Rtl1 T C 12: 109,559,394 (GRCm39) D815G probably damaging Het
Scn1a T A 2: 66,181,470 (GRCm39) T18S probably benign Het
Septin5 T C 16: 18,441,975 (GRCm39) H277R probably damaging Het
Sh3bp5l A G 11: 58,237,173 (GRCm39) S377G probably benign Het
Snx2 T A 18: 53,330,961 (GRCm39) I142K possibly damaging Het
Spata31d1a C A 13: 59,850,077 (GRCm39) D684Y possibly damaging Het
Taar6 C A 10: 23,861,258 (GRCm39) S96I probably benign Het
Thsd7b C A 1: 130,116,268 (GRCm39) H1340Q probably benign Het
Tmem115 C T 9: 107,415,198 (GRCm39) T329M probably benign Het
Tmem50b C T 16: 91,378,578 (GRCm39) probably null Het
Wdr64 A T 1: 175,620,539 (GRCm39) D316V possibly damaging Het
Yars1 C A 4: 129,091,079 (GRCm39) S162R probably damaging Het
Other mutations in Acvr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:Acvr1 APN 2 58,337,585 (GRCm39) missense probably benign 0.00
IGL01392:Acvr1 APN 2 58,390,558 (GRCm39) missense probably benign 0.01
IGL01526:Acvr1 APN 2 58,348,997 (GRCm39) missense probably benign 0.20
IGL02524:Acvr1 APN 2 58,338,319 (GRCm39) splice site probably benign
IGL02682:Acvr1 APN 2 58,367,823 (GRCm39) missense probably benign 0.00
IGL02795:Acvr1 APN 2 58,352,964 (GRCm39) missense probably damaging 1.00
R0084:Acvr1 UTSW 2 58,348,895 (GRCm39) critical splice donor site probably null
R0452:Acvr1 UTSW 2 58,390,507 (GRCm39) missense probably benign 0.13
R1484:Acvr1 UTSW 2 58,369,901 (GRCm39) missense probably damaging 1.00
R1514:Acvr1 UTSW 2 58,337,597 (GRCm39) nonsense probably null
R1645:Acvr1 UTSW 2 58,352,911 (GRCm39) missense probably damaging 1.00
R1925:Acvr1 UTSW 2 58,337,661 (GRCm39) missense probably damaging 0.99
R2435:Acvr1 UTSW 2 58,369,704 (GRCm39) missense probably damaging 1.00
R2873:Acvr1 UTSW 2 58,367,808 (GRCm39) nonsense probably null
R3729:Acvr1 UTSW 2 58,352,925 (GRCm39) missense probably null 0.09
R3854:Acvr1 UTSW 2 58,352,946 (GRCm39) missense probably damaging 1.00
R4438:Acvr1 UTSW 2 58,367,739 (GRCm39) missense probably benign 0.00
R4863:Acvr1 UTSW 2 58,367,723 (GRCm39) missense possibly damaging 0.60
R5543:Acvr1 UTSW 2 58,353,157 (GRCm39) missense probably damaging 1.00
R5558:Acvr1 UTSW 2 58,349,029 (GRCm39) missense probably damaging 1.00
R5618:Acvr1 UTSW 2 58,352,955 (GRCm39) missense probably damaging 1.00
R6233:Acvr1 UTSW 2 58,338,411 (GRCm39) missense probably benign 0.04
R6236:Acvr1 UTSW 2 58,367,678 (GRCm39) missense probably benign 0.17
R6565:Acvr1 UTSW 2 58,369,769 (GRCm39) missense probably damaging 1.00
R6912:Acvr1 UTSW 2 58,337,585 (GRCm39) missense probably benign 0.00
R7739:Acvr1 UTSW 2 58,352,983 (GRCm39) missense possibly damaging 0.47
R7912:Acvr1 UTSW 2 58,364,230 (GRCm39) missense probably damaging 0.97
R8127:Acvr1 UTSW 2 58,367,638 (GRCm39) missense probably benign 0.14
R8343:Acvr1 UTSW 2 58,364,286 (GRCm39) critical splice acceptor site probably null
R8688:Acvr1 UTSW 2 58,352,961 (GRCm39) missense probably damaging 0.98
R8876:Acvr1 UTSW 2 58,338,422 (GRCm39) missense possibly damaging 0.83
R9135:Acvr1 UTSW 2 58,352,983 (GRCm39) missense possibly damaging 0.47
R9290:Acvr1 UTSW 2 58,338,330 (GRCm39) missense probably damaging 1.00
R9562:Acvr1 UTSW 2 58,338,385 (GRCm39) missense probably damaging 1.00
R9565:Acvr1 UTSW 2 58,338,385 (GRCm39) missense probably damaging 1.00
Z1176:Acvr1 UTSW 2 58,369,880 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCTCCGAGTACATTTGTTTGCAC -3'
(R):5'- GCTCAGAGATACAGCCAGTAGAGGTC -3'

Sequencing Primer
(F):5'- gcacattaaagcagtcaaggg -3'
(R):5'- TTTGGCCAGAGGGAAGTCTT -3'
Posted On 2013-09-30