Incidental Mutation 'R6049:Tgfbr3'
ID 483440
Institutional Source Beutler Lab
Gene Symbol Tgfbr3
Ensembl Gene ENSMUSG00000029287
Gene Name transforming growth factor, beta receptor III
Synonyms betaglycan, TBRIII, 1110036H20Rik
MMRRC Submission 044217-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6049 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 107254436-107437495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107266351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 790 (A790T)
Ref Sequence ENSEMBL: ENSMUSP00000031224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031224]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031224
AA Change: A790T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: A790T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
internal_repeat_1 64 193 2.48e-5 PROSPERO
internal_repeat_1 232 361 2.48e-5 PROSPERO
low complexity region 419 430 N/A INTRINSIC
ZP 454 731 8.12e-65 SMART
transmembrane domain 786 808 N/A INTRINSIC
low complexity region 835 849 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000136882
AA Change: A133T
SMART Domains Protein: ENSMUSP00000123644
Gene: ENSMUSG00000029287
AA Change: A133T

DomainStartEndE-ValueType
Pfam:Zona_pellucida 1 67 5.9e-8 PFAM
transmembrane domain 130 152 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138469
Meta Mutation Damage Score 0.0781 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die as embryos. The very few individuals that survive are poorly fertile with abnormalities of the spleen, liver, heart, and skeletal system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,088,520 (GRCm39) H229Y probably benign Het
Aadacl2fm2 A C 3: 59,659,570 (GRCm39) D341A probably damaging Het
Abcd2 A G 15: 91,062,439 (GRCm39) F500L probably benign Het
Adgb A G 10: 10,253,770 (GRCm39) L1190P probably damaging Het
Adgrv1 A G 13: 81,545,473 (GRCm39) V5604A probably benign Het
Ank2 T A 3: 126,736,669 (GRCm39) T3072S possibly damaging Het
Arhgap39 A G 15: 76,611,601 (GRCm39) probably null Het
C6 T C 15: 4,764,654 (GRCm39) C117R probably damaging Het
Cacna1a A G 8: 85,365,475 (GRCm39) E2206G probably damaging Het
Cd2bp2 A T 7: 126,793,007 (GRCm39) F338L probably damaging Het
Cemip2 A T 19: 21,803,490 (GRCm39) Q841L probably benign Het
Cngb1 T C 8: 95,997,470 (GRCm39) D575G probably damaging Het
Cplane2 T A 4: 140,945,473 (GRCm39) V108D probably benign Het
Crat A G 2: 30,293,553 (GRCm39) F63S probably damaging Het
Crybg3 T C 16: 59,364,417 (GRCm39) T2402A probably benign Het
Ctsq A G 13: 61,186,572 (GRCm39) probably null Het
Cux1 T C 5: 136,361,564 (GRCm39) R248G probably damaging Het
D7Ertd443e T C 7: 133,899,961 (GRCm39) H420R probably benign Het
Deup1 A G 9: 15,472,552 (GRCm39) F587L possibly damaging Het
Dnah6 T C 6: 73,063,149 (GRCm39) K2651R probably benign Het
Dnah7b A G 1: 46,124,762 (GRCm39) I144V probably benign Het
Dnajc1 T C 2: 18,236,511 (GRCm39) probably null Het
Fscb T C 12: 64,521,094 (GRCm39) N124S possibly damaging Het
Gabbr2 A G 4: 46,787,641 (GRCm39) Y341H probably damaging Het
Greb1 T A 12: 16,731,395 (GRCm39) I1648F probably damaging Het
Hace1 A T 10: 45,562,758 (GRCm39) N758Y probably damaging Het
Irs2 A C 8: 11,056,805 (GRCm39) D542E probably benign Het
Kat6a T A 8: 23,429,053 (GRCm39) H1469Q possibly damaging Het
Kif15 G A 9: 122,840,687 (GRCm39) R36K probably damaging Het
Krt42 C T 11: 100,157,886 (GRCm39) V193M probably damaging Het
Limch1 A T 5: 67,188,203 (GRCm39) E878V probably benign Het
Med18 G T 4: 132,187,024 (GRCm39) D158E probably benign Het
Med6 T C 12: 81,638,097 (GRCm39) N38S probably damaging Het
Mup13 T C 4: 61,183,596 (GRCm39) T76A probably benign Het
Nlrp4b T A 7: 10,448,640 (GRCm39) L281* probably null Het
Or5h23 A T 16: 58,906,509 (GRCm39) C112* probably null Het
Or7g28 C A 9: 19,272,640 (GRCm39) G4* probably null Het
Or9r3 A T 10: 129,948,481 (GRCm39) H59Q probably benign Het
Pde4d A T 13: 109,169,119 (GRCm39) R54* probably null Het
Pdpk1 A T 17: 24,317,109 (GRCm39) Y251* probably null Het
Pdzk1 A G 3: 96,758,979 (GRCm39) E128G probably benign Het
Phf12 A G 11: 77,918,996 (GRCm39) probably null Het
Pnliprp2 A G 19: 58,748,884 (GRCm39) E63G possibly damaging Het
Prkcd T C 14: 30,329,254 (GRCm39) E62G possibly damaging Het
Prl7b1 G T 13: 27,790,161 (GRCm39) D77E probably benign Het
Rbck1 G T 2: 152,165,094 (GRCm39) C85* probably null Het
Rfx3 A T 19: 27,779,795 (GRCm39) M481K probably damaging Het
Rmdn3 A G 2: 118,983,906 (GRCm39) F159L probably damaging Het
Rpusd3 A C 6: 113,394,802 (GRCm39) probably null Het
Ska1 T C 18: 74,335,671 (GRCm39) T100A probably benign Het
Slc1a3 T C 15: 8,675,177 (GRCm39) E276G probably damaging Het
Slc27a6 T A 18: 58,731,732 (GRCm39) Y361N probably damaging Het
Smc1b A G 15: 85,005,896 (GRCm39) L336S probably damaging Het
St7 A G 6: 17,694,347 (GRCm39) D46G possibly damaging Het
Supt5 A G 7: 28,014,622 (GRCm39) I1059T probably benign Het
Syne1 A T 10: 5,297,926 (GRCm39) S1124T possibly damaging Het
Szt2 A G 4: 118,260,185 (GRCm39) S54P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tbc1d7 A C 13: 43,312,836 (GRCm39) M19R probably damaging Het
Tbpl2 T C 2: 23,985,004 (GRCm39) N47D possibly damaging Het
Tnr T C 1: 159,740,324 (GRCm39) V1166A probably damaging Het
Ttn G A 2: 76,676,654 (GRCm39) probably benign Het
Other mutations in Tgfbr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Tgfbr3 APN 5 107,290,367 (GRCm39) missense probably benign 0.00
IGL01135:Tgfbr3 APN 5 107,362,894 (GRCm39) missense probably damaging 1.00
IGL01375:Tgfbr3 APN 5 107,284,837 (GRCm39) missense probably benign
IGL01457:Tgfbr3 APN 5 107,297,764 (GRCm39) missense probably damaging 1.00
IGL01599:Tgfbr3 APN 5 107,266,317 (GRCm39) missense probably damaging 0.98
IGL01646:Tgfbr3 APN 5 107,269,279 (GRCm39) splice site probably benign
IGL01945:Tgfbr3 APN 5 107,269,224 (GRCm39) critical splice donor site probably null
IGL03039:Tgfbr3 APN 5 107,325,665 (GRCm39) splice site probably benign
IGL03202:Tgfbr3 APN 5 107,257,630 (GRCm39) splice site probably benign
IGL03378:Tgfbr3 APN 5 107,257,568 (GRCm39) missense probably damaging 1.00
R0131:Tgfbr3 UTSW 5 107,280,682 (GRCm39) missense probably benign 0.00
R0452:Tgfbr3 UTSW 5 107,288,289 (GRCm39) missense probably benign 0.00
R0665:Tgfbr3 UTSW 5 107,325,716 (GRCm39) missense probably benign 0.11
R0667:Tgfbr3 UTSW 5 107,325,716 (GRCm39) missense probably benign 0.11
R0751:Tgfbr3 UTSW 5 107,287,749 (GRCm39) missense probably damaging 1.00
R1373:Tgfbr3 UTSW 5 107,362,809 (GRCm39) missense probably benign 0.01
R1777:Tgfbr3 UTSW 5 107,284,796 (GRCm39) missense probably benign 0.31
R1887:Tgfbr3 UTSW 5 107,284,874 (GRCm39) missense probably damaging 1.00
R3019:Tgfbr3 UTSW 5 107,285,412 (GRCm39) missense possibly damaging 0.70
R3552:Tgfbr3 UTSW 5 107,287,705 (GRCm39) missense probably damaging 0.99
R3617:Tgfbr3 UTSW 5 107,288,485 (GRCm39) missense possibly damaging 0.65
R3901:Tgfbr3 UTSW 5 107,362,753 (GRCm39) splice site probably benign
R4830:Tgfbr3 UTSW 5 107,257,585 (GRCm39) missense probably damaging 1.00
R4939:Tgfbr3 UTSW 5 107,278,335 (GRCm39) missense probably benign
R5020:Tgfbr3 UTSW 5 107,362,836 (GRCm39) missense probably damaging 1.00
R5044:Tgfbr3 UTSW 5 107,284,795 (GRCm39) missense possibly damaging 0.88
R5619:Tgfbr3 UTSW 5 107,288,380 (GRCm39) missense probably benign 0.23
R5752:Tgfbr3 UTSW 5 107,287,673 (GRCm39) missense probably benign 0.01
R5768:Tgfbr3 UTSW 5 107,297,761 (GRCm39) missense probably benign
R5799:Tgfbr3 UTSW 5 107,257,474 (GRCm39) utr 3 prime probably benign
R5818:Tgfbr3 UTSW 5 107,280,869 (GRCm39) missense probably benign
R5846:Tgfbr3 UTSW 5 107,288,521 (GRCm39) missense possibly damaging 0.51
R5859:Tgfbr3 UTSW 5 107,288,381 (GRCm39) missense probably benign 0.00
R6378:Tgfbr3 UTSW 5 107,325,679 (GRCm39) missense probably benign 0.00
R6696:Tgfbr3 UTSW 5 107,284,796 (GRCm39) missense probably benign 0.02
R6823:Tgfbr3 UTSW 5 107,297,780 (GRCm39) missense probably damaging 1.00
R6994:Tgfbr3 UTSW 5 107,280,892 (GRCm39) missense probably damaging 1.00
R7454:Tgfbr3 UTSW 5 107,362,894 (GRCm39) missense probably damaging 1.00
R7773:Tgfbr3 UTSW 5 107,288,368 (GRCm39) missense probably benign 0.00
R7978:Tgfbr3 UTSW 5 107,287,726 (GRCm39) missense probably damaging 1.00
R8201:Tgfbr3 UTSW 5 107,278,431 (GRCm39) missense probably benign 0.01
R8296:Tgfbr3 UTSW 5 107,287,640 (GRCm39) missense probably damaging 1.00
R8758:Tgfbr3 UTSW 5 107,297,750 (GRCm39) missense probably damaging 1.00
R9232:Tgfbr3 UTSW 5 107,290,361 (GRCm39) missense possibly damaging 0.56
R9360:Tgfbr3 UTSW 5 107,257,550 (GRCm39) missense unknown
R9784:Tgfbr3 UTSW 5 107,297,799 (GRCm39) missense probably benign 0.00
X0022:Tgfbr3 UTSW 5 107,284,792 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTAGGCATCACTTAGACCAAG -3'
(R):5'- TTGCAAACAGAATATGTAAAAGCCC -3'

Sequencing Primer
(F):5'- GACCAAGTTACATTTTTACGTGACC -3'
(R):5'- AAGCCCAATCAATCCATCTTTTC -3'
Posted On 2017-07-14