Incidental Mutation 'R6378:Tgfbr3'
ID 515110
Institutional Source Beutler Lab
Gene Symbol Tgfbr3
Ensembl Gene ENSMUSG00000029287
Gene Name transforming growth factor, beta receptor III
Synonyms betaglycan, TBRIII, 1110036H20Rik
MMRRC Submission 044528-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6378 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 107254436-107437495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107325679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 128 (L128F)
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
AA Change: L128F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: L128F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146591
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 A T 15: 72,995,774 (GRCm39) D408E probably benign Het
Agpat2 T C 2: 26,486,147 (GRCm39) N178S probably benign Het
Arsi T C 18: 61,049,573 (GRCm39) F152S probably damaging Het
Atp13a2 T A 4: 140,734,367 (GRCm39) L1163Q probably benign Het
Bpifb2 T A 2: 153,733,072 (GRCm39) L385Q possibly damaging Het
C330018D20Rik A G 18: 57,095,579 (GRCm39) L2P probably damaging Het
Cby3 A G 11: 50,250,360 (GRCm39) T189A probably damaging Het
Cdc42bpa A T 1: 179,921,561 (GRCm39) D567V possibly damaging Het
Cdh5 T A 8: 104,853,168 (GRCm39) probably null Het
Cela1 C T 15: 100,585,071 (GRCm39) V20I probably benign Het
Cmpk2 G A 12: 26,519,415 (GRCm39) G22E possibly damaging Het
Ctcf T A 8: 106,390,423 (GRCm39) V10E possibly damaging Het
Dpp10 C A 1: 123,339,468 (GRCm39) C353F probably damaging Het
Efcab3 A G 11: 104,999,620 (GRCm39) S5546G possibly damaging Het
Elp3 G T 14: 65,830,420 (GRCm39) Y10* probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Eml4 T A 17: 83,755,646 (GRCm39) W336R probably damaging Het
Erich6 T C 3: 58,529,780 (GRCm39) probably null Het
Eya1 T C 1: 14,373,027 (GRCm39) N31D possibly damaging Het
Fam81a T A 9: 70,017,628 (GRCm39) N106Y probably damaging Het
Frrs1 A G 3: 116,694,639 (GRCm39) T487A possibly damaging Het
Ganc T C 2: 120,264,307 (GRCm39) M420T probably damaging Het
Gimap7 A T 6: 48,701,116 (GRCm39) E234V probably damaging Het
Gpbp1 T C 13: 111,570,146 (GRCm39) N400S probably damaging Het
Gucy2g T C 19: 55,229,377 (GRCm39) S98G probably benign Het
Hoxd10 T C 2: 74,524,678 (GRCm39) I330T possibly damaging Het
Ik T A 18: 36,890,341 (GRCm39) I539N probably damaging Het
Il17rb G A 14: 29,722,320 (GRCm39) T237I probably damaging Het
Ing2 T A 8: 48,122,293 (GRCm39) Q85L probably benign Het
Lrp4 C A 2: 91,324,174 (GRCm39) N1208K probably benign Het
Lvrn T A 18: 47,028,024 (GRCm39) S888R probably benign Het
Map2 T C 1: 66,454,488 (GRCm39) V1126A probably damaging Het
Mapkapk5 A G 5: 121,677,233 (GRCm39) probably null Het
Mis18bp1 T C 12: 65,196,021 (GRCm39) D581G probably benign Het
Muc4 T C 16: 32,599,320 (GRCm39) V3289A probably benign Het
Myom2 T A 8: 15,149,356 (GRCm39) I609N probably benign Het
Nav1 A T 1: 135,382,433 (GRCm39) M1343K probably damaging Het
Ndufaf1 T C 2: 119,486,207 (GRCm39) I302V probably damaging Het
Neb T A 2: 52,183,733 (GRCm39) K978N probably damaging Het
Nol8 A G 13: 49,820,831 (GRCm39) E878G probably damaging Het
Nrde2 A T 12: 100,097,016 (GRCm39) I928N probably damaging Het
Nxf1 T A 19: 8,741,910 (GRCm39) D145E probably benign Het
Obox3 T A 7: 15,360,027 (GRCm39) H214L probably benign Het
Obscn T C 11: 58,964,572 (GRCm39) E3199G probably damaging Het
Ogfod3 T C 11: 121,093,761 (GRCm39) E83G probably benign Het
Or11a4 T A 17: 37,536,688 (GRCm39) V224E probably benign Het
Or2r3 T G 6: 42,448,687 (GRCm39) M142L probably benign Het
Or6b2 A G 1: 92,408,178 (GRCm39) L55P probably damaging Het
Or8s8 T C 15: 98,354,425 (GRCm39) V78A probably benign Het
Pcsk4 G T 10: 80,164,809 (GRCm39) H69N probably benign Het
Plcl2 C T 17: 50,975,188 (GRCm39) probably null Het
Pmfbp1 T C 8: 110,256,898 (GRCm39) I534T probably damaging Het
Prss23 A T 7: 89,159,241 (GRCm39) I276N probably damaging Het
Ramac A G 7: 81,417,387 (GRCm39) Y29C probably damaging Het
Rhd T A 4: 134,621,696 (GRCm39) F403Y possibly damaging Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Homo
Scg5 A G 2: 113,657,737 (GRCm39) V58A possibly damaging Het
Scn5a C T 9: 119,315,102 (GRCm39) G1868R probably damaging Het
Secisbp2l A G 2: 125,610,245 (GRCm39) S225P possibly damaging Het
Sema4f A T 6: 82,894,613 (GRCm39) L486* probably null Het
Slc25a47 G A 12: 108,822,069 (GRCm39) R286H probably damaging Het
Slc5a8 A C 10: 88,740,916 (GRCm39) K277T probably damaging Het
Slc66a3 T C 12: 17,047,644 (GRCm39) Y96C probably damaging Het
Sorcs1 T A 19: 50,213,615 (GRCm39) E704V possibly damaging Het
Sptan1 T C 2: 29,908,527 (GRCm39) S1768P probably damaging Het
Srd5a2 C T 17: 74,328,378 (GRCm39) probably null Het
Sytl2 A T 7: 90,007,432 (GRCm39) K65* probably null Het
Tas2r109 T G 6: 132,957,844 (GRCm39) I29L probably benign Het
Tfap2a A T 13: 40,876,717 (GRCm39) V234E possibly damaging Het
Trappc12 A T 12: 28,797,082 (GRCm39) L150Q probably damaging Het
Trim43b T A 9: 88,967,452 (GRCm39) I395L probably benign Het
U2surp C T 9: 95,373,474 (GRCm39) E232K probably benign Het
Vax1 T C 19: 59,154,656 (GRCm39) N327S probably benign Het
Vmn1r14 T C 6: 57,210,587 (GRCm39) V11A probably benign Het
Vmn1r60 A G 7: 5,547,782 (GRCm39) V106A probably damaging Het
Vmn2r106 T C 17: 20,498,667 (GRCm39) S415G probably benign Het
Vmn2r3 C T 3: 64,182,517 (GRCm39) G394D probably damaging Het
Ybx2 A G 11: 69,831,179 (GRCm39) E63G possibly damaging Het
Zfhx4 T A 3: 5,308,410 (GRCm39) N545K probably benign Het
Zp1 T C 19: 10,892,217 (GRCm39) T56A 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
R6049:Tgfbr3 UTSW 5 107,266,351 (GRCm39) missense probably damaging 0.99
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'- GGCATCTGCTTCCTGTGAATTC -3'
(R):5'- TCCTCGGAATGAATGGCCTG -3'

Sequencing Primer
(F):5'- GTAATCCTAGCATTCAGGGCACTG -3'
(R):5'- TGAATGGCCTGGGGAAAC -3'
Posted On 2018-05-04