Incidental Mutation 'R4674:Acvr1b'
ID 348737
Institutional Source Beutler Lab
Gene Symbol Acvr1b
Ensembl Gene ENSMUSG00000000532
Gene Name activin A receptor, type 1B
Synonyms ActRIB, Acvrlk4, SKR2, Alk4, ActR-IB
MMRRC Submission 041929-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4674 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101071953-101111565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101100939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 367 (I367T)
Ref Sequence ENSEMBL: ENSMUSP00000000544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000544]
AlphaFold Q61271
Predicted Effect possibly damaging
Transcript: ENSMUST00000000544
AA Change: I367T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000544
Gene: ENSMUSG00000000532
AA Change: I367T

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,860,615 (GRCm39) I112T probably benign Het
Akr1b8 G A 6: 34,333,359 (GRCm39) probably null Het
Ash1l T C 3: 88,979,783 (GRCm39) V2769A possibly damaging Het
Asxl3 A T 18: 22,650,795 (GRCm39) D928V probably damaging Het
Atp1a4 A T 1: 172,085,223 (GRCm39) V66E possibly damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Cbx2 T A 11: 118,919,935 (GRCm39) I500N probably damaging Het
Ccdc82 A T 9: 13,252,260 (GRCm39) H184L probably benign Het
Cd84 A T 1: 171,700,887 (GRCm39) H216L possibly damaging Het
Ceacam15 T C 7: 16,407,410 (GRCm39) T36A probably benign Het
Cebpd A G 16: 15,705,385 (GRCm39) D66G probably damaging Het
Clec1b C A 6: 129,377,097 (GRCm39) L47I probably damaging Het
Cracr2b A G 7: 141,043,451 (GRCm39) D43G probably damaging Het
Crbn T A 6: 106,767,932 (GRCm39) Q173L possibly damaging Het
Cspg4 T C 9: 56,805,489 (GRCm39) V2100A probably damaging Het
Cyp46a1 T C 12: 108,324,345 (GRCm39) L374P probably damaging Het
Dhx16 T A 17: 36,196,831 (GRCm39) V607E probably damaging Het
Dido1 A G 2: 180,329,352 (GRCm39) S357P probably damaging Het
Dnah6 T A 6: 73,169,405 (GRCm39) I399F probably benign Het
Dock10 T C 1: 80,584,337 (GRCm39) E123G possibly damaging Het
Dstyk A G 1: 132,391,128 (GRCm39) D843G probably benign Het
Efcab12 C A 6: 115,800,610 (GRCm39) V138F probably damaging Het
Egf A G 3: 129,511,689 (GRCm39) F493L probably damaging Het
Ephx1 A G 1: 180,822,256 (GRCm39) F220S probably damaging Het
Exoc6 T C 19: 37,597,530 (GRCm39) F644L probably damaging Het
F13b A G 1: 139,429,542 (GRCm39) Y20C unknown Het
Fam184b T A 5: 45,740,230 (GRCm39) K319* probably null Het
Flrt2 T A 12: 95,747,462 (GRCm39) L600* probably null Het
Gbgt1 T C 2: 28,388,453 (GRCm39) F46S possibly damaging Het
Gli2 T C 1: 118,763,759 (GRCm39) E1464G probably damaging Het
Hdac9 A G 12: 34,423,959 (GRCm39) V501A possibly damaging Het
Heca T C 10: 17,791,057 (GRCm39) H333R probably benign Het
Hirip3 G A 7: 126,463,834 (GRCm39) probably null Het
Igsf8 G A 1: 172,146,479 (GRCm39) W51* probably null Het
Kif21a C A 15: 90,824,748 (GRCm39) R1342L possibly damaging Het
Krt73 T C 15: 101,710,510 (GRCm39) N75D probably benign Het
Macf1 T A 4: 123,366,190 (GRCm39) Y1292F probably benign Het
Macroh2a1 A C 13: 56,230,997 (GRCm39) C297G possibly damaging Het
Mapk14 A G 17: 28,963,996 (GRCm39) probably null Het
Mgat5 T A 1: 127,318,495 (GRCm39) V330D probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 A T 13: 100,580,682 (GRCm39) F188L probably damaging Het
Ncoa3 T C 2: 165,901,731 (GRCm39) S1035P probably benign Het
Ndn T A 7: 61,998,570 (GRCm39) W139R probably damaging Het
Nes T C 3: 87,879,102 (GRCm39) V198A possibly damaging Het
Or4c107 G T 2: 88,789,216 (GRCm39) M135I probably damaging Het
Or4c35 A G 2: 89,808,250 (GRCm39) I43V possibly damaging Het
Or51ab3 T G 7: 103,201,183 (GRCm39) L64V probably damaging Het
Or52p1 T A 7: 104,267,631 (GRCm39) C248* probably null Het
Or5b111 T A 19: 13,291,178 (GRCm39) H157L probably benign Het
Or5p72 T C 7: 108,022,309 (GRCm39) V177A possibly damaging Het
Pcf11 G A 7: 92,308,985 (GRCm39) probably benign Het
Pde1a TCC TC 2: 79,728,525 (GRCm39) probably benign Het
Pipox T G 11: 77,784,596 (GRCm39) Q4P probably benign Het
Pla2g4c C T 7: 13,077,439 (GRCm39) T327I probably null Het
Plppr1 C T 4: 49,323,384 (GRCm39) R225W probably damaging Het
Pnpla6 T A 8: 3,571,412 (GRCm39) V145D probably damaging Het
Pnpla7 T C 2: 24,942,329 (GRCm39) Y83H probably damaging Het
Rif1 T A 2: 51,996,954 (GRCm39) L970Q probably null Het
Rimklb C A 6: 122,433,242 (GRCm39) E303* probably null Het
Rpl13a A T 7: 44,776,242 (GRCm39) probably benign Het
Rttn T A 18: 89,029,135 (GRCm39) probably null Het
Sf3b3 G A 8: 111,571,137 (GRCm39) R10W probably damaging Het
Skint4 G A 4: 111,975,430 (GRCm39) C130Y probably damaging Het
Snap91 A G 9: 86,674,070 (GRCm39) S593P possibly damaging Het
Ssb A G 2: 69,699,194 (GRCm39) Q209R probably benign Het
Stap1 A T 5: 86,229,044 (GRCm39) I71L probably benign Het
Syna C A 5: 134,587,209 (GRCm39) R580L probably damaging Het
Tacc2 T A 7: 130,226,591 (GRCm39) M1111K possibly damaging Het
Tanc2 T C 11: 105,758,306 (GRCm39) L689P probably damaging Het
Tasor2 T C 13: 3,623,686 (GRCm39) E1406G possibly damaging Het
Tcstv7b T C 13: 120,702,362 (GRCm39) W53R probably damaging Het
Tdrd5 A C 1: 156,105,005 (GRCm39) C463W probably damaging Het
Tet1 A G 10: 62,674,627 (GRCm39) F1150L probably damaging Het
Tia1 T A 6: 86,397,382 (GRCm39) F118L probably damaging Het
Trav3-1 A T 14: 52,818,460 (GRCm39) T45S possibly damaging Het
Uaca A T 9: 60,761,711 (GRCm39) Y235F possibly damaging Het
Ube4b T C 4: 149,415,827 (GRCm39) N44S possibly damaging Het
Vmn2r93 T A 17: 18,525,255 (GRCm39) H304Q probably benign Het
Wdr18 A G 10: 79,801,069 (GRCm39) I161V probably benign Het
Zfp112 A G 7: 23,826,399 (GRCm39) H789R probably damaging Het
Zfp873 A G 10: 81,895,814 (GRCm39) T182A possibly damaging Het
Zscan2 T A 7: 80,525,150 (GRCm39) S290R probably damaging Het
Zup1 A T 10: 33,824,980 (GRCm39) D167E possibly damaging Het
Other mutations in Acvr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02983:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03010:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03011:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03013:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03051:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03127:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03166:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL03265:Acvr1b APN 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL02980:Acvr1b UTSW 15 101,100,959 (GRCm39) missense probably damaging 0.98
IGL02984:Acvr1b UTSW 15 101,100,959 (GRCm39) missense probably damaging 0.98
R1367:Acvr1b UTSW 15 101,091,819 (GRCm39) missense possibly damaging 0.58
R1498:Acvr1b UTSW 15 101,091,891 (GRCm39) missense probably benign
R1591:Acvr1b UTSW 15 101,091,905 (GRCm39) missense probably benign
R1757:Acvr1b UTSW 15 101,096,703 (GRCm39) missense possibly damaging 0.47
R1793:Acvr1b UTSW 15 101,091,906 (GRCm39) missense probably benign 0.01
R2223:Acvr1b UTSW 15 101,100,924 (GRCm39) missense probably benign 0.10
R2249:Acvr1b UTSW 15 101,100,975 (GRCm39) missense probably null 1.00
R4676:Acvr1b UTSW 15 101,100,867 (GRCm39) missense probably damaging 1.00
R5151:Acvr1b UTSW 15 101,108,651 (GRCm39) missense probably damaging 1.00
R5223:Acvr1b UTSW 15 101,091,857 (GRCm39) missense probably damaging 1.00
R5397:Acvr1b UTSW 15 101,096,845 (GRCm39) missense probably damaging 0.99
R5574:Acvr1b UTSW 15 101,099,958 (GRCm39) missense probably benign 0.03
R5906:Acvr1b UTSW 15 101,091,772 (GRCm39) intron probably benign
R6025:Acvr1b UTSW 15 101,092,856 (GRCm39) missense probably benign 0.43
R6467:Acvr1b UTSW 15 101,092,722 (GRCm39) missense possibly damaging 0.86
R7158:Acvr1b UTSW 15 101,091,939 (GRCm39) missense probably benign
R8480:Acvr1b UTSW 15 101,108,720 (GRCm39) missense possibly damaging 0.47
R9502:Acvr1b UTSW 15 101,092,710 (GRCm39) missense probably benign
X0067:Acvr1b UTSW 15 101,091,903 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- AGCCCAGAATCCTCTCAGAGTC -3'
(R):5'- GACACTGCTGTCAAGTGTCC -3'

Sequencing Primer
(F):5'- AGAGTCCACACATTTCCTATGC -3'
(R):5'- ACTGCTGTCAAGTGTCCCAGTATG -3'
Posted On 2015-10-08