Incidental Mutation 'IGL01646:Tgfbr3'
ID 102695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgfbr3
Ensembl Gene ENSMUSG00000029287
Gene Name transforming growth factor, beta receptor III
Synonyms betaglycan, TBRIII, 1110036H20Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01646
Quality Score
Status
Chromosome 5
Chromosomal Location 107254436-107437495 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 107269279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 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
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambp C T 4: 63,066,977 (GRCm39) V188I probably benign Het
Bbs9 G T 9: 22,582,221 (GRCm39) E638* probably null Het
Bmp6 A G 13: 38,682,904 (GRCm39) M465V probably damaging Het
Ccdc192 T A 18: 57,800,417 (GRCm39) C171* probably null Het
Cemip T C 7: 83,632,440 (GRCm39) E374G possibly damaging Het
Cnbd1 A T 4: 18,895,141 (GRCm39) Y200* probably null Het
Cox6b1 G T 7: 30,323,929 (GRCm39) Y34* probably null Het
Cyp2d26 A C 15: 82,675,619 (GRCm39) I303M probably benign Het
Diaph1 T A 18: 38,026,469 (GRCm39) probably null Het
Dmp1 T C 5: 104,359,731 (GRCm39) S136P probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Eea1 A G 10: 95,832,877 (GRCm39) T241A probably damaging Het
Erap1 C A 13: 74,814,291 (GRCm39) T25K probably damaging Het
Fras1 A G 5: 96,906,007 (GRCm39) E3137G probably benign Het
Fryl C T 5: 73,179,844 (GRCm39) probably null Het
Gldc T G 19: 30,078,165 (GRCm39) D944A possibly damaging Het
Grm5 A G 7: 87,689,267 (GRCm39) Y546C probably damaging Het
Igkv1-122 G A 6: 67,993,728 (GRCm39) M1I probably null Het
Jag2 G A 12: 112,879,969 (GRCm39) P380S possibly damaging Het
Kcnc2 T C 10: 112,108,311 (GRCm39) probably null Het
Kmt2a T C 9: 44,736,781 (GRCm39) probably benign Het
Lrrc55 A G 2: 85,022,333 (GRCm39) V286A probably damaging Het
Mllt10 C A 2: 18,127,128 (GRCm39) H82N probably damaging Het
Myh11 C A 16: 14,039,639 (GRCm39) R837L probably damaging Het
Nsg1 C A 5: 38,313,035 (GRCm39) D55Y probably damaging Het
Nup107 C A 10: 117,617,247 (GRCm39) R221M probably damaging Het
Nup153 G T 13: 46,837,583 (GRCm39) A1213D possibly damaging Het
Ovgp1 G A 3: 105,885,665 (GRCm39) G174S probably damaging Het
Papss2 C T 19: 32,629,482 (GRCm39) A357V probably benign Het
Pclo A G 5: 14,763,881 (GRCm39) K4118R unknown Het
Pde2a T C 7: 101,156,918 (GRCm39) I628T possibly damaging Het
Pla2r1 A G 2: 60,325,708 (GRCm39) W521R probably damaging Het
Pld1 A T 3: 28,153,813 (GRCm39) Q744L probably damaging Het
Pnpo T A 11: 96,829,775 (GRCm39) E251V possibly damaging Het
Rdh10 C T 1: 16,178,246 (GRCm39) H173Y possibly damaging Het
Sgpp2 A T 1: 78,393,533 (GRCm39) I179F probably damaging Het
Slc11a1 C T 1: 74,423,899 (GRCm39) P409L probably damaging Het
Slc35b4 T A 6: 34,135,364 (GRCm39) N316I probably benign Het
Snrnp200 A G 2: 127,064,148 (GRCm39) I712V probably benign Het
Spr T C 6: 85,111,222 (GRCm39) D216G possibly damaging Het
Sri G A 5: 8,113,755 (GRCm39) probably null Het
Tas2r124 T C 6: 132,732,332 (GRCm39) S214P probably damaging Het
Tg T A 15: 66,549,936 (GRCm39) S233T probably damaging Het
Vmn2r45 A G 7: 8,486,337 (GRCm39) F317S probably benign Het
Vmn2r99 C A 17: 19,613,920 (GRCm39) probably benign Het
Zfp957 T C 14: 79,451,331 (GRCm39) E156G 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
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
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
Posted On 2014-01-21