Incidental Mutation 'R5799:Tgfbr3'
ID 447393
Institutional Source Beutler Lab
Gene Symbol Tgfbr3
Ensembl Gene ENSMUSG00000029287
Gene Name transforming growth factor, beta receptor III
Synonyms betaglycan, TBRIII, 1110036H20Rik
MMRRC Submission 043388-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5799 (G1)
Quality Score 162
Status Validated
Chromosome 5
Chromosomal Location 107254436-107437495 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 107257474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031224]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031224
SMART Domains Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287

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 noncoding transcript
Transcript: ENSMUST00000138469
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 89% (51/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,668,908 (GRCm39) Q92* probably null Het
Accsl T C 2: 93,694,748 (GRCm39) probably null Het
Ahnak2 T C 12: 112,745,365 (GRCm39) probably benign Het
Alcam T C 16: 52,130,212 (GRCm39) D46G probably benign Het
Asap2 T C 12: 21,218,247 (GRCm39) S57P probably damaging Het
Atg14 A T 14: 47,784,752 (GRCm39) V314D possibly damaging Het
C230029F24Rik C T 1: 49,377,307 (GRCm39) noncoding transcript Het
Calcr A T 6: 3,707,592 (GRCm39) I236N probably benign Het
Cass4 G A 2: 172,258,107 (GRCm39) G35E probably damaging Het
Chmp6 T C 11: 119,807,517 (GRCm39) I120T probably benign Het
Col13a1 A G 10: 61,684,919 (GRCm39) probably benign Het
Cstdc4 T A 16: 36,004,631 (GRCm39) M1K probably null Het
Ddhd2 T A 8: 26,238,629 (GRCm39) L328F probably damaging Het
Defa40 T A 8: 21,740,359 (GRCm39) probably null Het
Dnmt3l A G 10: 77,887,860 (GRCm39) D123G possibly damaging Het
Eea1 T A 10: 95,838,810 (GRCm39) V287E possibly damaging Het
Efcc1 A G 6: 87,708,164 (GRCm39) N97S probably benign Het
Exd1 A G 2: 119,369,262 (GRCm39) S118P probably benign Het
Ext2 G T 2: 93,642,317 (GRCm39) T184K probably benign Het
Fam186a G A 15: 99,864,705 (GRCm39) Q42* probably null Het
Gbp2 A T 3: 142,337,843 (GRCm39) I320L probably benign Het
Gramd2a G A 9: 59,615,299 (GRCm39) G13R probably benign Het
H2-Q5 T C 17: 35,613,115 (GRCm39) M5T unknown Het
Jak3 C T 8: 72,131,344 (GRCm39) L70F probably damaging Het
Lhpp G A 7: 132,307,364 (GRCm39) V254M probably damaging Het
Lig1 T A 7: 13,030,184 (GRCm39) V387E possibly damaging Het
Lipo3 T C 19: 33,755,093 (GRCm39) probably benign Het
Lrrc8b C T 5: 105,629,208 (GRCm39) S518L probably benign Het
Narf T C 11: 121,135,480 (GRCm39) Y111H probably damaging Het
Ncf4 A G 15: 78,135,177 (GRCm39) K78R probably benign Het
Nrap A T 19: 56,330,601 (GRCm39) C1118* probably null Het
Nubp2 A G 17: 25,104,772 (GRCm39) V23A probably damaging Het
Or4l1 A T 14: 50,166,497 (GRCm39) F168Y probably damaging Het
Or6c219 A T 10: 129,781,780 (GRCm39) D50E possibly damaging Het
Or8g55 T C 9: 39,785,392 (GRCm39) S274P possibly damaging Het
Pdzd7 G A 19: 45,025,428 (GRCm39) P356S probably benign Het
Rttn T C 18: 89,056,070 (GRCm39) V984A probably damaging Het
Ryr3 A G 2: 112,516,925 (GRCm39) S3334P probably damaging Het
Senp7 G A 16: 55,959,468 (GRCm39) probably null Het
Slc25a3 A C 10: 90,957,903 (GRCm39) Y50D probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A T 15: 96,592,970 (GRCm39) S163T probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stam2 A T 2: 52,610,922 (GRCm39) C4* probably null Het
Taf1a A G 1: 183,177,272 (GRCm39) D50G possibly damaging Het
Taf6l A T 19: 8,759,995 (GRCm39) Y106N possibly damaging Het
Taf7l2 T C 10: 115,948,674 (GRCm39) E284G probably damaging Het
Tbx20 G A 9: 24,636,816 (GRCm39) Q424* probably null Het
Tex10 A G 4: 48,433,295 (GRCm39) V829A possibly damaging Het
Tnfsf10 G T 3: 27,389,742 (GRCm39) V268F probably damaging Het
Trrap A G 5: 144,767,755 (GRCm39) T2571A 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
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
R6049:Tgfbr3 UTSW 5 107,266,351 (GRCm39) missense probably damaging 0.99
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'- AGGCCACCAGCTTAGCTTTC -3'
(R):5'- GGGACACATTCCTCCTCAGATTC -3'

Sequencing Primer
(F):5'- CCAGCTTAGCTTTCGTGTGACAG -3'
(R):5'- CCTCAGATTCCATTATATGACATGTC -3'
Posted On 2016-12-15