Incidental Mutation 'R7454:Tgfbr3'
ID 577981
Institutional Source Beutler Lab
Gene Symbol Tgfbr3
Ensembl Gene ENSMUSG00000029287
Gene Name transforming growth factor, beta receptor III
Synonyms betaglycan, TBRIII, 1110036H20Rik
MMRRC Submission 045528-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7454 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 107254436-107437495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107362894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 39 (H39Q)
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: H39Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: H39Q

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: ENSMUST00000146591
Meta Mutation Damage Score 0.1090 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (90/90)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510002D24Rik A G 16: 18,655,601 (GRCm39) E57G possibly damaging Het
4932414N04Rik C A 2: 68,518,648 (GRCm39) T159K unknown Het
Adamts10 T A 17: 33,763,979 (GRCm39) F616L possibly damaging Het
Adtrp G A 13: 41,981,791 (GRCm39) S26L unknown Het
Alpk3 A C 7: 80,728,310 (GRCm39) E480A probably benign Het
Anks6 T C 4: 47,038,919 (GRCm39) T529A unknown Het
Arl4d A G 11: 101,557,486 (GRCm39) H4R probably benign Het
Ash1l A G 3: 88,891,172 (GRCm39) H1017R probably benign Het
Bbs12 T C 3: 37,375,102 (GRCm39) S517P possibly damaging Het
Bcl11b C A 12: 107,882,467 (GRCm39) R616L possibly damaging Het
Bean1 G A 8: 104,937,658 (GRCm39) G79D probably damaging Het
Bicra C G 7: 15,706,059 (GRCm39) G1461R probably benign Het
Bptf T C 11: 106,935,466 (GRCm39) T124A probably benign Het
Btnl4 A T 17: 34,691,348 (GRCm39) V312E probably benign Het
Ccdc7a A G 8: 129,670,997 (GRCm39) M503T unknown Het
Celf5 T C 10: 81,318,357 (GRCm39) E28G probably damaging Het
Cilp2 G A 8: 70,336,040 (GRCm39) L350F probably damaging Het
Clec4a2 T C 6: 123,119,411 (GRCm39) I245T probably damaging Het
Ctnnal1 A T 4: 56,844,544 (GRCm39) V140D probably damaging Het
Dennd4a A C 9: 64,759,852 (GRCm39) H319P probably damaging Het
Dlgap3 G T 4: 127,128,852 (GRCm39) L857F probably null Het
Dnah6 T A 6: 73,189,475 (GRCm39) T58S probably damaging Het
Dnah7a T A 1: 53,557,923 (GRCm39) M2164L probably benign Het
Dspp T A 5: 104,323,476 (GRCm39) H206Q probably benign Het
Dzip1l G A 9: 99,541,727 (GRCm39) V443M possibly damaging Het
Erc2 A G 14: 28,024,948 (GRCm39) H939R possibly damaging Het
Fam149a G T 8: 45,801,583 (GRCm39) H513N probably benign Het
Fam171a2 T C 11: 102,330,543 (GRCm39) T280A possibly damaging Het
Fkbp5 A C 17: 28,634,999 (GRCm39) V170G probably damaging Het
Fnbp4 ACCACCTCCACCTCCACCTCC ACCACCTCCACCTCCACCTCCACCTCC 2: 90,608,159 (GRCm39) probably benign Het
Fzd2 T C 11: 102,495,955 (GRCm39) F133S probably damaging Het
Galm A G 17: 80,445,550 (GRCm39) N100S possibly damaging Het
Gbp2b T A 3: 142,303,920 (GRCm39) I5N possibly damaging Het
Gga2 T C 7: 121,601,369 (GRCm39) R245G probably benign Het
Gm10053 A G 19: 24,853,264 (GRCm39) T50A probably benign Het
Gm1110 T C 9: 26,831,945 (GRCm39) T69A probably benign Het
Heatr5a T C 12: 52,008,326 (GRCm39) S6G probably benign Het
Hmcn1 A G 1: 150,439,355 (GRCm39) S5610P probably damaging Het
Hmgb4 A G 4: 128,154,199 (GRCm39) V123A probably damaging Het
Itgal C A 7: 126,926,936 (GRCm39) Q943K probably benign Het
Jakmip1 C A 5: 37,332,498 (GRCm39) D1059E probably damaging Het
Jazf1 T C 6: 52,870,929 (GRCm39) probably null Het
Kat6a A G 8: 23,425,788 (GRCm39) E1111G possibly damaging Het
Kdm4b C A 17: 56,696,639 (GRCm39) P452T probably benign Het
Krit1 T C 5: 3,862,474 (GRCm39) Y210H probably damaging Het
Krtap6-2 A T 16: 89,216,800 (GRCm39) Y56N unknown Het
Lig1 A T 7: 13,022,647 (GRCm39) D158V probably damaging Het
Lmo1 A T 7: 108,739,873 (GRCm39) L94Q probably benign Het
Lrrc30 A T 17: 67,939,238 (GRCm39) L114H probably damaging Het
Ltn1 T C 16: 87,194,700 (GRCm39) I1400V probably benign Het
Mark3 T C 12: 111,570,961 (GRCm39) I87T probably damaging Het
Mfrp G T 9: 44,016,480 (GRCm39) V392F possibly damaging Het
Mrgprg A G 7: 143,318,872 (GRCm39) L80P probably damaging Het
Ndufaf3 A T 9: 108,444,125 (GRCm39) M1K probably null Het
Nme7 T A 1: 164,208,217 (GRCm39) L295* probably null Het
Noct G T 3: 51,157,151 (GRCm39) C163F probably damaging Het
Or11h4b T A 14: 50,918,281 (GRCm39) Q270L possibly damaging Het
Or13a26 A T 7: 140,284,547 (GRCm39) I128F probably damaging Het
Or4b1 T A 2: 89,979,763 (GRCm39) I196F possibly damaging Het
Or5ak22 T A 2: 85,229,955 (GRCm39) K307N probably damaging Het
Or6c203 T A 10: 129,010,324 (GRCm39) T189S probably damaging Het
Or8g2 A G 9: 39,821,200 (GRCm39) I34V probably benign Het
Patz1 C T 11: 3,248,297 (GRCm39) probably benign Het
Per3 A G 4: 151,097,185 (GRCm39) L780P probably benign Het
Pira1 T G 7: 3,738,509 (GRCm39) E622D probably benign Het
Pla2g4a T C 1: 149,748,441 (GRCm39) M256V possibly damaging Het
Pnliprp1 A G 19: 58,729,532 (GRCm39) K395R probably benign Het
Poc5 G T 13: 96,537,340 (GRCm39) G242V possibly damaging Het
Ppfia4 A G 1: 134,251,873 (GRCm39) S434P possibly damaging Het
Prss42 A G 9: 110,627,897 (GRCm39) N110S probably benign Het
Ralgapb T A 2: 158,274,822 (GRCm39) I241N possibly damaging Het
Rbak A C 5: 143,159,528 (GRCm39) Y508* probably null Het
S1pr2 G T 9: 20,878,845 (GRCm39) R328S possibly damaging Het
Sap130 T C 18: 31,783,565 (GRCm39) M214T probably benign Het
Slc46a1 T A 11: 78,357,337 (GRCm39) V130E probably damaging Het
Smc4 A T 3: 68,925,457 (GRCm39) H343L probably benign Het
Tarbp1 C A 8: 127,184,416 (GRCm39) R500L probably benign Het
Tasor2 A G 13: 3,635,332 (GRCm39) S492P probably benign Het
Tpp2 T C 1: 43,993,819 (GRCm39) S235P probably benign Het
Trbc2 G T 6: 41,523,763 (GRCm39) R33M Het
Trim3 C T 7: 105,268,765 (GRCm39) R63Q probably damaging Het
Ttc28 T C 5: 111,433,350 (GRCm39) V2128A probably benign Het
Ttn C T 2: 76,556,162 (GRCm39) R30281H probably damaging Het
Ttn T A 2: 76,774,483 (GRCm39) Q2187L unknown Het
Ttyh3 T C 5: 140,615,180 (GRCm39) S403G possibly damaging Het
Vmn2r112 A T 17: 22,822,288 (GRCm39) D322V probably benign Het
Wdr38 C T 2: 38,888,352 (GRCm39) probably benign Het
Xrn1 T A 9: 95,930,411 (GRCm39) S1543R probably benign Het
Zbtb8b G A 4: 129,326,562 (GRCm39) T201I 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
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
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'- TCTTAAGACACAGCAAGGCAG -3'
(R):5'- TGGGATTTCAGATGATGAGACCAG -3'

Sequencing Primer
(F):5'- GTGCTTTCTACACAAGGCTGACAG -3'
(R):5'- CAGATGATGAGACCAGCTTTTTAATC -3'
Posted On 2019-10-07