Incidental Mutation 'R7978:Tgfbr3'
ID 651024
Institutional Source Beutler Lab
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 # R7978 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 107254436-107437495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107287726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 491 (N491S)
Ref Sequence ENSEMBL: ENSMUSP00000031224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031224]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031224
AA Change: N491S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: N491S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,036,515 (GRCm39) I342N probably damaging Het
Alb A T 5: 90,619,932 (GRCm39) N453I possibly damaging Het
Aox4 C A 1: 58,274,366 (GRCm39) S384Y probably damaging Het
Ap1g1 C T 8: 110,564,399 (GRCm39) R315* probably null Het
Cachd1 T C 4: 100,832,060 (GRCm39) Y741H probably damaging Het
Cacna2d2 C G 9: 107,395,456 (GRCm39) L661V probably benign Het
Ccdc90b T A 7: 92,216,921 (GRCm39) H64Q probably damaging Het
Ccdc93 C A 1: 121,426,960 (GRCm39) N582K possibly damaging Het
Cdh20 A G 1: 109,921,835 (GRCm39) probably benign Het
Cnksr1 T C 4: 133,963,342 (GRCm39) N78D probably damaging Het
Cttnbp2nl A G 3: 104,915,307 (GRCm39) V132A probably damaging Het
Cwc25 G A 11: 97,644,044 (GRCm39) Q230* probably null Het
Dsel G A 1: 111,787,449 (GRCm39) R1029* probably null Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Fam120a T C 13: 49,055,750 (GRCm39) Y646C probably damaging Het
Hltf T C 3: 20,146,968 (GRCm39) W576R probably damaging Het
Hmcn2 A G 2: 31,279,359 (GRCm39) N1787S probably benign Het
Ift122 A G 6: 115,897,313 (GRCm39) E904G probably benign Het
Igkv17-121 C T 6: 68,013,806 (GRCm39) T2I unknown Het
Ino80 T G 2: 119,269,874 (GRCm39) R590S possibly damaging Het
Intu T A 3: 40,652,069 (GRCm39) I842N probably damaging Het
Itgae A T 11: 73,024,913 (GRCm39) T1015S probably damaging Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kcna10 A G 3: 107,101,663 (GRCm39) E98G probably damaging Het
Kcnb2 T A 1: 15,780,837 (GRCm39) Y570N probably benign Het
Kmt2c T C 5: 25,564,676 (GRCm39) I923V probably benign Het
Kptn A G 7: 15,859,697 (GRCm39) D307G probably damaging Het
Myo3b T C 2: 70,083,458 (GRCm39) Y704H probably damaging Het
Or12d13 A G 17: 37,647,392 (GRCm39) F244L probably benign Het
Or4c100 T A 2: 88,356,014 (GRCm39) L29* probably null Het
Or4c58 A T 2: 89,674,611 (GRCm39) C235* probably null Het
Or4f59 T C 2: 111,872,523 (GRCm39) T285A possibly damaging Het
Pmel G A 10: 128,551,819 (GRCm39) V218M probably damaging Het
Prkar2b T C 12: 32,013,024 (GRCm39) H364R possibly damaging Het
Psd4 T C 2: 24,294,867 (GRCm39) F809S probably damaging Het
Rabgap1l A G 1: 160,078,838 (GRCm39) S59P Het
Rgr A G 14: 36,766,645 (GRCm39) F134L probably benign Het
Rspry1 G T 8: 95,349,753 (GRCm39) R47L probably damaging Het
Scd3 G T 19: 44,222,688 (GRCm39) E113* probably null Het
Slc22a12 G A 19: 6,586,938 (GRCm39) A476V possibly damaging Het
Smg1 T C 7: 117,792,878 (GRCm39) E560G unknown Het
Snx3 A G 10: 42,378,346 (GRCm39) D7G probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Tbc1d12 A G 19: 38,905,285 (GRCm39) M667V probably benign Het
Tbc1d30 A T 10: 121,142,104 (GRCm39) V81E probably damaging Het
Tbc1d9 A T 8: 83,966,583 (GRCm39) I395F probably damaging Het
Tes C A 6: 17,096,322 (GRCm39) N103K probably benign Het
Tet2 T C 3: 133,193,426 (GRCm39) Y336C possibly damaging Het
Tomt T C 7: 101,549,554 (GRCm39) I245V probably damaging Het
Trbc1 T C 6: 41,515,236 (GRCm39) L28P Het
Trp63 T C 16: 25,639,436 (GRCm39) V208A unknown Het
Ttll8 G T 15: 88,799,565 (GRCm39) N625K probably benign Het
Ush2a T A 1: 188,132,135 (GRCm39) W786R probably benign Het
Vmn2r97 A T 17: 19,167,854 (GRCm39) I703F probably 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
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
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'- ATTTTCAGCGGCTAACCCTC -3'
(R):5'- TGATATTCCCAGGAGAGGCTGC -3'

Sequencing Primer
(F):5'- TTTCAGCGGCTAACCCTCGATAATAC -3'
(R):5'- CAGGAGAGGCTGCCCAGATG -3'
Posted On 2020-09-15