Incidental Mutation 'R3617:Tgfbr3'
ID 268469
Institutional Source Beutler Lab
Gene Symbol Tgfbr3
Ensembl Gene ENSMUSG00000029287
Gene Name transforming growth factor, beta receptor III
Synonyms betaglycan, TBRIII, 1110036H20Rik
MMRRC Submission 040674-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3617 (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 107288485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 392 (F392Y)
Ref Sequence ENSEMBL: ENSMUSP00000031224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031224]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000031224
AA Change: F392Y

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: F392Y

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (41/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,625,015 (GRCm39) V460A probably damaging Het
Aplf T C 6: 87,648,865 (GRCm39) I25V possibly damaging Het
Ascc3 A G 10: 50,494,281 (GRCm39) T239A probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cbfa2t2 A T 2: 154,278,904 (GRCm39) probably benign Het
Ccdc168 T C 1: 44,100,114 (GRCm39) D328G probably benign Het
Cdkn1c C T 7: 143,013,531 (GRCm39) probably benign Het
Cfap46 A G 7: 139,219,515 (GRCm39) S1317P probably benign Het
Cntln C T 4: 84,923,214 (GRCm39) Q560* probably null Het
Cntn2 G C 1: 132,456,361 (GRCm39) A161G probably benign Het
Crybg1 A G 10: 43,832,782 (GRCm39) I1991T possibly damaging Het
Cttnbp2 T C 6: 18,414,189 (GRCm39) E952G probably damaging Het
Dhx36 T C 3: 62,379,428 (GRCm39) T887A possibly damaging Het
Dhx36 A G 3: 62,394,481 (GRCm39) F512L probably benign Het
Fthl17f A G X: 8,929,862 (GRCm39) T153A probably benign Het
Gad1-ps T A 10: 99,281,260 (GRCm39) noncoding transcript Het
Gba2 C T 4: 43,573,803 (GRCm39) R163H probably damaging Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Gm17019 A T 5: 15,081,081 (GRCm39) M120K possibly damaging Het
Helz2 C T 2: 180,874,854 (GRCm39) R1880H probably damaging Het
Ifi204 T C 1: 173,583,283 (GRCm39) I312V possibly damaging Het
Kncn T C 4: 115,743,089 (GRCm39) F55L probably benign Het
Kndc1 G A 7: 139,481,976 (GRCm39) probably benign Het
Nat8f3 C A 6: 85,738,670 (GRCm39) A31S probably benign Het
Ndst4 T C 3: 125,231,782 (GRCm39) I117T probably benign Het
Ndufa9 G T 6: 126,826,071 (GRCm39) probably benign Het
Nup42 T C 5: 24,387,325 (GRCm39) S372P probably benign Het
Pde6a A G 18: 61,364,575 (GRCm39) probably benign Het
Pigw T C 11: 84,769,133 (GRCm39) I65M probably damaging Het
Pip A G 6: 41,828,871 (GRCm39) T139A probably benign Het
Rel A T 11: 23,695,780 (GRCm39) D202E probably damaging Het
Rhot2 A G 17: 26,059,955 (GRCm39) probably benign Het
Sh3rf3 G A 10: 58,922,685 (GRCm39) R587Q possibly damaging Het
Sim1 T A 10: 50,785,624 (GRCm39) M231K probably damaging Het
Slc12a9 G A 5: 137,330,759 (GRCm39) T47M probably damaging Het
Slc4a4 A G 5: 89,382,663 (GRCm39) D1036G probably benign Het
Tas2r143 A T 6: 42,377,997 (GRCm39) I276F probably benign Het
Tmem266 T C 9: 55,307,918 (GRCm39) V148A probably damaging Het
Ubiad1 A G 4: 148,520,817 (GRCm39) I269T probably benign Het
Vwc2l A G 1: 70,768,041 (GRCm39) probably null Het
Zbtb49 G A 5: 38,357,975 (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
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
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'- AGACTGCACTGACCTGGAAAG -3'
(R):5'- ATCAGTCACTCATGATGTTCTCAC -3'

Sequencing Primer
(F):5'- TCACATTTGACTGACAGGGC -3'
(R):5'- GATGTTCTCACAATGACCGTGAC -3'
Posted On 2015-02-19