Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Tgfbr3'

39669

Institutional Source

Beutler Lab

Gene Symbol

Tgfbr3

Ensembl Gene

ENSMUSG00000029287

Gene Name

transforming growth factor, beta receptor III

Synonyms

betaglycan, TBRIII, 1110036H20Rik

MMRRC Submission

038652-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0452 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

107254436-107437495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107288289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 457 (N457K)

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: N457K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: N457K

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

noncoding transcript
Transcript: ENSMUST00000138469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199780

Meta Mutation Damage Score

0.1427

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Add2	G	T	6: 86,081,611 (GRCm39)	E366*	probably null	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,704,668 (GRCm39)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,614,791 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 35,147,071 (GRCm39)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,051,806 (GRCm39)	N313I	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
St3gal1	C	A	15: 66,981,504 (GRCm39)		probably benign	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Stat5b	A	T	11: 100,689,156 (GRCm39)	I246N	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tcp1	T	C	17: 13,143,239 (GRCm39)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Uhmk1	A	G	1: 170,039,971 (GRCm39)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTGCCAAGGGAAAGTGGCCTATC -3'
(R):5'- AGGAAGTCCACACCATTCCTCCTG -3'

Sequencing Primer
(F):5'- AAAGTGGCCTATCCAACTGG -3'
(R):5'- TTCCAAGGGGAAATCCCAAATG -3'

Posted On

2013-05-23