Incidental Mutation 'R5818:Tgfbr3'
ID 449155
Institutional Source Beutler Lab
Gene Symbol Tgfbr3
Ensembl Gene ENSMUSG00000029287
Gene Name transforming growth factor, beta receptor III
Synonyms betaglycan, TBRIII, 1110036H20Rik
MMRRC Submission 043398-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5818 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 107254436-107437495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107280869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 630 (D630E)
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: D630E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: D630E

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 probably benign
Transcript: ENSMUST00000136882
SMART Domains Protein: ENSMUSP00000123644
Gene: ENSMUSG00000029287

DomainStartEndE-ValueType
Pfam:Zona_pellucida 1 67 5.9e-8 PFAM
transmembrane domain 130 152 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199780
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 100% (64/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,110,469 (GRCm39) V560D probably damaging Het
Actn4 A G 7: 28,618,444 (GRCm39) I72T probably damaging Het
Adam33 A T 2: 130,896,278 (GRCm39) C440S possibly damaging Het
Bace1 T C 9: 45,770,347 (GRCm39) I361T possibly damaging Het
Bend6 T C 1: 33,922,654 (GRCm39) probably benign Het
Bpifb9a T G 2: 154,104,215 (GRCm39) N219K probably damaging Het
Cacna1g C A 11: 94,308,946 (GRCm39) K1634N probably damaging Het
Cdk18 A G 1: 132,046,836 (GRCm39) probably null Het
Chrng G A 1: 87,137,523 (GRCm39) V320I probably benign Het
Corin G T 5: 72,592,738 (GRCm39) H87N probably benign Het
Cps1 A T 1: 67,205,647 (GRCm39) I557F possibly damaging Het
Cyp4a29 T C 4: 115,104,229 (GRCm39) V99A possibly damaging Het
Dach1 T C 14: 98,406,120 (GRCm39) D209G probably damaging Het
Dgat1 G A 15: 76,386,407 (GRCm39) probably benign Het
Eif1ad8 T G 12: 87,563,830 (GRCm39) V55G possibly damaging Het
Fbxw26 G T 9: 109,561,634 (GRCm39) R187S probably benign Het
Gabrd G A 4: 155,472,818 (GRCm39) P122S probably damaging Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Hif1a A G 12: 73,986,338 (GRCm39) Q343R possibly damaging Het
Hyou1 G A 9: 44,300,223 (GRCm39) probably null Het
Igfn1 A T 1: 135,893,864 (GRCm39) I2072K possibly damaging Het
Itprid2 T A 2: 79,474,937 (GRCm39) S299T probably damaging Het
Kash5 C T 7: 44,843,383 (GRCm39) probably null Het
Kctd8 C T 5: 69,454,054 (GRCm39) A328T probably benign Het
Krt10 A G 11: 99,279,597 (GRCm39) Y188H probably damaging Het
Krtap4-16 T A 11: 99,742,349 (GRCm39) Q17L unknown Het
Larp4b T A 13: 9,208,596 (GRCm39) S416R probably benign Het
Lmtk2 G A 5: 144,093,718 (GRCm39) V232M probably benign Het
Mroh4 A G 15: 74,483,831 (GRCm39) I571T probably damaging Het
Myo15a G A 11: 60,388,777 (GRCm39) R2021Q probably benign Het
Npl G A 1: 153,411,661 (GRCm39) R63C probably damaging Het
Ntn4 A G 10: 93,480,626 (GRCm39) I80V probably benign Het
Numb C T 12: 83,872,028 (GRCm39) probably null Het
Nusap1 A C 2: 119,465,994 (GRCm39) M205L possibly damaging Het
Onecut2 T A 18: 64,474,046 (GRCm39) M180K possibly damaging Het
Or10d1b T C 9: 39,613,661 (GRCm39) S135G probably benign Het
Pmfbp1 T C 8: 110,265,311 (GRCm39) probably null Het
Ppfia1 T C 7: 144,074,305 (GRCm39) probably benign Het
Ppm1b A G 17: 85,301,147 (GRCm39) K9R probably benign Het
Rab11fip3 T C 17: 26,235,090 (GRCm39) S608G probably damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Sohlh2 A G 3: 55,097,922 (GRCm39) T125A probably damaging Het
Tet1 C A 10: 62,652,187 (GRCm39) M1610I possibly damaging Het
Thnsl2 T C 6: 71,111,127 (GRCm39) D247G probably benign Het
Tmem198b G A 10: 128,638,057 (GRCm39) R169W probably benign Het
Tmem201 G A 4: 149,811,849 (GRCm39) A332V probably benign Het
Tsku T C 7: 98,001,305 (GRCm39) D342G possibly damaging Het
Ucn2 A T 9: 108,815,565 (GRCm39) H109L probably benign Het
Virma T G 4: 11,513,319 (GRCm39) L391R possibly damaging Het
Vmn1r60 T A 7: 5,548,098 (GRCm39) M1L probably benign Het
Vmn2r76 T C 7: 85,879,142 (GRCm39) H386R probably benign Het
Zfp608 C T 18: 55,028,468 (GRCm39) R1315Q probably benign Het
Zmym2 A G 14: 57,183,986 (GRCm39) T983A probably benign Het
Zscan26 A G 13: 21,629,931 (GRCm39) S65P 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
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'- TGTTGAACACGGACTTGAACAC -3'
(R):5'- ATGGACGGTACCTTTCATCAATC -3'

Sequencing Primer
(F):5'- CAAAGCTGAACCGCTTCTTG -3'
(R):5'- CGGTACCTTTCATCAATCGGTGTATG -3'
Posted On 2016-12-20