Incidental Mutation 'R5752:Tgfbr3'
ID 444839
Institutional Source Beutler Lab
Gene Symbol Tgfbr3
Ensembl Gene ENSMUSG00000029287
Gene Name transforming growth factor, beta receptor III
Synonyms betaglycan, TBRIII, 1110036H20Rik
MMRRC Submission 043357-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5752 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 107254436-107437495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107287673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 509 (R509G)
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: R509G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: R509G

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: ENSMUST00000199780
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (58/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik C A 17: 47,200,966 (GRCm39) probably benign Het
Aldh1l2 C A 10: 83,356,244 (GRCm39) G49C probably damaging Het
Arhgap26 G A 18: 39,419,725 (GRCm39) E11K probably damaging Het
Asns C T 6: 7,689,365 (GRCm39) G46S probably damaging Het
Atrn G T 2: 130,748,464 (GRCm39) probably benign Het
Cep126 A C 9: 8,120,746 (GRCm39) Y92* probably null Het
Cfap69 T C 5: 5,639,204 (GRCm39) T567A probably damaging Het
Clgn T A 8: 84,123,670 (GRCm39) Y61N probably damaging Het
Col28a1 T G 6: 8,015,025 (GRCm39) K793N possibly damaging Het
Cxcl9 C A 5: 92,471,715 (GRCm39) M108I probably benign Het
Cyp4f37 A T 17: 32,850,306 (GRCm39) I318F probably damaging Het
Daam1 T C 12: 71,993,320 (GRCm39) M363T unknown Het
Dnajc13 A C 9: 104,069,973 (GRCm39) probably null Het
Entpd2 G A 2: 25,289,781 (GRCm39) probably benign Het
F3 T A 3: 121,526,053 (GRCm39) N205K probably damaging Het
Fat2 A T 11: 55,180,063 (GRCm39) F1426Y possibly damaging Het
Galnt6 A T 15: 100,602,007 (GRCm39) F267I probably damaging Het
Gm1322 G A 2: 67,014,979 (GRCm39) noncoding transcript Het
Hdgfl3 A C 7: 81,549,451 (GRCm39) S143A possibly damaging Het
Ints7 T A 1: 191,308,005 (GRCm39) D12E probably benign Het
Kank3 A G 17: 34,037,037 (GRCm39) T114A probably benign Het
Lrp1b A G 2: 41,185,624 (GRCm39) Y1364H probably damaging Het
Mef2b A G 8: 70,618,267 (GRCm39) T116A possibly damaging Het
Megf8 C T 7: 25,054,539 (GRCm39) T1885I probably damaging Het
Mrps11 A G 7: 78,433,343 (GRCm39) K30E probably benign Het
Naca T A 10: 127,877,797 (GRCm39) probably benign Het
Ncoa4-ps A G 12: 119,226,349 (GRCm39) noncoding transcript Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Or2at1 T C 7: 99,417,155 (GRCm39) I262T probably benign Het
Paip2b C T 6: 83,808,252 (GRCm39) probably null Het
Plcb2 G T 2: 118,541,532 (GRCm39) probably benign Het
Plcd4 A G 1: 74,587,131 (GRCm39) probably null Het
Pnpla8 A G 12: 44,329,670 (GRCm39) N74S probably benign Het
Pot1b A T 17: 55,994,834 (GRCm39) I276N probably damaging Het
Qprt C T 7: 126,708,416 (GRCm39) G5D probably benign Het
Rab11fip1 T C 8: 27,646,614 (GRCm39) N154S probably damaging Het
Rin3 G A 12: 102,279,378 (GRCm39) probably benign Het
Sdf4 C T 4: 156,080,761 (GRCm39) P37S probably damaging Het
Selp A T 1: 163,964,811 (GRCm39) D491V probably damaging Het
Sh3gl3 A G 7: 81,824,696 (GRCm39) probably benign Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spata31d1e T C 13: 59,891,016 (GRCm39) Y268C probably damaging Het
Tas2r134 A G 2: 51,517,880 (GRCm39) R120G probably damaging Het
Tle3 T A 9: 61,314,753 (GRCm39) Y231N probably damaging Het
Top6bl C A 19: 4,676,048 (GRCm39) A695S probably benign Het
Ttc41 C T 10: 86,594,210 (GRCm39) T881I probably benign Het
Ttll8 T C 15: 88,816,931 (GRCm39) Y271C probably benign Het
Ttn A T 2: 76,778,328 (GRCm39) I1307K possibly damaging Het
Ube2k A G 5: 65,723,411 (GRCm39) D48G probably damaging Het
Vcan T C 13: 89,828,069 (GRCm39) T3126A probably damaging Het
Vps13d T C 4: 144,875,540 (GRCm39) T1656A probably benign Het
Zzz3 C A 3: 152,157,759 (GRCm39) S777R possibly damaging 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
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
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'- CAGCTGAGAAAACAGGACCTTC -3'
(R):5'- CTGCTTGTAACCCCAATACAGTG -3'

Sequencing Primer
(F):5'- CAAGAGTTCAGGGTTACAGTCCATC -3'
(R):5'- TGAACAGTGGTTAAGCCCTC -3'
Posted On 2016-11-21