Mutagenetix > Incidental Mutation

Incidental Mutation 'R1777:Tgfbr3'

197095

Institutional Source

Beutler Lab

Gene Symbol

Tgfbr3

Ensembl Gene

ENSMUSG00000029287

Gene Name

transforming growth factor, beta receptor III

Synonyms

betaglycan, TBRIII, 1110036H20Rik

MMRRC Submission

039808-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1777 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

107254436-107437495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107284796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 618 (V618L)

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: V618L

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: V618L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Zona_pellucida	1	67	5.9e-8	PFAM
transmembrane domain	130	152	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199780

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	A	1: 16,148,813 (GRCm39)	D111V	possibly damaging	Het
Ap2a1	G	A	7: 44,553,576 (GRCm39)	T597M	probably damaging	Het
Arhgap25	A	G	6: 87,440,289 (GRCm39)	S364P	probably benign	Het
Atp6v1a	G	T	16: 43,935,068 (GRCm39)	Y40*	probably null	Het
Cdh1	T	A	8: 107,383,467 (GRCm39)	H235Q	probably damaging	Het
Cntln	A	G	4: 85,048,916 (GRCm39)	E1376G	probably benign	Het
Cntnap5b	T	A	1: 100,297,803 (GRCm39)	S781T	probably benign	Het
Cpne4	A	G	9: 104,749,887 (GRCm39)	T64A	probably damaging	Het
Ctsg	T	C	14: 56,338,058 (GRCm39)	Y179C	probably damaging	Het
Cx3cr1	A	G	9: 119,880,659 (GRCm39)	Y248H	probably damaging	Het
Dhx37	T	C	5: 125,506,995 (GRCm39)	E167G	probably benign	Het
Dnajc21	C	A	15: 10,449,693 (GRCm39)	A443S	probably benign	Het
Drd5	T	C	5: 38,477,504 (GRCm39)	S166P	probably damaging	Het
Dscaml1	T	C	9: 45,595,054 (GRCm39)	L719P	possibly damaging	Het
Eif2ak4	T	C	2: 118,261,320 (GRCm39)	I542T	probably damaging	Het
Ephb3	G	A	16: 21,035,985 (GRCm39)	G291E	probably damaging	Het
Eva1a	T	A	6: 82,069,137 (GRCm39)	Y155N	probably damaging	Het
Exog	C	T	9: 119,278,884 (GRCm39)	P189L	probably damaging	Het
Fam13b	A	G	18: 34,590,813 (GRCm39)	V455A	possibly damaging	Het
Fmn2	C	A	1: 174,409,488 (GRCm39)	Q574K	unknown	Het
Gm6871	A	T	7: 41,195,143 (GRCm39)	S531R	probably benign	Het
Golga2	T	A	2: 32,195,482 (GRCm39)		probably null	Het
Hydin	C	T	8: 111,316,203 (GRCm39)	P4365L	probably benign	Het
Ints8	A	T	4: 11,225,600 (GRCm39)		probably null	Het
Kbtbd12	A	C	6: 88,595,042 (GRCm39)	S263A	probably benign	Het
Kcng4	T	C	8: 120,360,226 (GRCm39)	D50G	probably benign	Het
Klhl18	A	T	9: 110,266,469 (GRCm39)	C217S	probably benign	Het
Klk1b4	A	G	7: 43,856,875 (GRCm39)		probably benign	Het
Klk7	G	A	7: 43,462,753 (GRCm39)	C186Y	probably damaging	Het
Krbox5	A	T	13: 67,981,984 (GRCm39)	R65S	probably benign	Het
Krit1	T	C	5: 3,886,799 (GRCm39)	Y635H	probably damaging	Het
Lipo4	A	T	19: 33,476,721 (GRCm39)	D342E	probably damaging	Het
Lsm14b	T	G	2: 179,673,588 (GRCm39)	D199E	probably benign	Het
Map3k4	A	T	17: 12,490,617 (GRCm39)	N271K	possibly damaging	Het
Mast1	T	A	8: 85,638,697 (GRCm39)	N1544I	probably benign	Het
Megf6	T	A	4: 154,355,147 (GRCm39)	C1487*	probably null	Het
Mlh3	C	A	12: 85,315,528 (GRCm39)	K219N	possibly damaging	Het
Mtmr4	A	G	11: 87,493,656 (GRCm39)	K305E	probably damaging	Het
Myo15a	A	G	11: 60,405,762 (GRCm39)	M3105V	probably benign	Het
Nbas	A	T	12: 13,563,563 (GRCm39)	I1958F	probably benign	Het
Nepro	A	T	16: 44,556,216 (GRCm39)	Q458L	probably damaging	Het
Opa3	T	C	7: 18,978,837 (GRCm39)	Y101H	probably damaging	Het
Or11g25	T	A	14: 50,723,757 (GRCm39)	F281I	probably benign	Het
Or14c41	T	A	7: 86,235,272 (GRCm39)	I263N	probably benign	Het
Or4f15	T	A	2: 111,814,042 (GRCm39)	I126L	possibly damaging	Het
Or51f1d	T	C	7: 102,700,583 (GRCm39)	I26T	probably benign	Het
Or5ac16	A	G	16: 59,022,379 (GRCm39)	S137P	probably benign	Het
Or8b12	A	G	9: 37,657,607 (GRCm39)	Y59C	possibly damaging	Het
Pate3	T	C	9: 35,559,412 (GRCm39)	N2D	probably benign	Het
Pcdhb21	T	A	18: 37,648,771 (GRCm39)	D633E	possibly damaging	Het
Pgm2	C	T	5: 64,285,125 (GRCm39)	P589L	probably benign	Het
Pigg	T	A	5: 108,465,257 (GRCm39)	D163E	probably damaging	Het
Polq	A	G	16: 36,880,586 (GRCm39)	T638A	possibly damaging	Het
Prmt3	T	A	7: 49,448,094 (GRCm39)	M268K	possibly damaging	Het
Prmt9	T	C	8: 78,291,737 (GRCm39)	C370R	probably benign	Het
Prss57	A	T	10: 79,623,219 (GRCm39)	V76E	possibly damaging	Het
Psme3ip1	T	C	8: 95,315,439 (GRCm39)	E31G	probably damaging	Het
Pzp	T	C	6: 128,467,535 (GRCm39)	E1089G	possibly damaging	Het
Qars1	T	A	9: 108,385,400 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,304,115 (GRCm39)	Y625H	probably damaging	Het
Rgl2	G	A	17: 34,150,718 (GRCm39)	D59N	probably benign	Het
Robo1	T	G	16: 72,801,555 (GRCm39)	W1060G	probably benign	Het
Scaper	A	T	9: 55,771,830 (GRCm39)	V362E	probably benign	Het
Schip1	T	C	3: 68,525,017 (GRCm39)	F131S	probably damaging	Het
Sh2b2	A	T	5: 136,256,276 (GRCm39)	V252D	probably damaging	Het
Shld2	C	A	14: 33,990,130 (GRCm39)	V259L	probably benign	Het
Slc17a6	A	T	7: 51,295,957 (GRCm39)	H199L	possibly damaging	Het
Slc29a1	A	G	17: 45,898,234 (GRCm39)	Y325H	probably damaging	Het
Slc29a4	G	T	5: 142,699,817 (GRCm39)	W156L	probably damaging	Het
Slc5a3	T	A	16: 91,874,644 (GRCm39)	S234T	probably benign	Het
Srd5a3	T	G	5: 76,297,630 (GRCm39)	V20G	probably damaging	Het
Stac	A	T	9: 111,433,150 (GRCm39)	S223T	possibly damaging	Het
Sytl2	A	T	7: 90,052,260 (GRCm39)	T766S	probably benign	Het
Tas2r102	A	G	6: 132,739,254 (GRCm39)	D54G	probably benign	Het
Tbpl1	A	G	10: 22,583,742 (GRCm39)	V105A	probably damaging	Het
Tenm3	G	T	8: 48,870,214 (GRCm39)	P193Q	probably benign	Het
Tes	G	A	6: 17,104,754 (GRCm39)	V403M	probably benign	Het
Tgfbr2	A	C	9: 115,938,948 (GRCm39)	I318S	probably damaging	Het
Tmc1	C	T	19: 20,793,473 (GRCm39)		probably null	Het
Tmem132a	G	A	19: 10,835,870 (GRCm39)	H887Y	probably damaging	Het
Tmem43	C	A	6: 91,454,312 (GRCm39)	S33*	probably null	Het
Tob1	A	G	11: 94,104,580 (GRCm39)	K39E	probably damaging	Het
Tut7	A	T	13: 59,939,635 (GRCm39)	H705Q	probably damaging	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Usp25	T	C	16: 76,878,442 (GRCm39)	M622T	probably damaging	Het
Vmn1r158	A	T	7: 22,489,855 (GRCm39)	L118Q	probably damaging	Het
Vmn1r217	T	A	13: 23,298,495 (GRCm39)	I136L	probably benign	Het
Vmn2r15	A	T	5: 109,442,136 (GRCm39)	I99K	possibly damaging	Het
Vwa7	T	A	17: 35,243,924 (GRCm39)	V786E	probably damaging	Het
Xkr5	A	G	8: 18,989,148 (GRCm39)	F248S	probably benign	Het
Zzef1	A	T	11: 72,801,098 (GRCm39)	K2444M	probably damaging	Het

Other mutations in Tgfbr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TGGAAGCCTTTTCTGAGCCAAACTG -3'
(R):5'- CATTGTTGCTCAAGCTGGGCTG -3'

Sequencing Primer
(F):5'- CTGAGCCAAACTGTTACTTAGATG -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2014-05-23