Mutagenetix > Incidental Mutation

Incidental Mutation 'R9784:Tgfbr3'

734203

Institutional Source

Beutler Lab

Gene Symbol

Tgfbr3

Ensembl Gene

ENSMUSG00000029287

Gene Name

transforming growth factor, beta receptor III

Synonyms

betaglycan, TBRIII, 1110036H20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9784 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107254436-107437495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107297799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 200 (N200K)

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: N200K

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

SMART Domains

Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: N200K

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,338,527 (GRCm39)	P495L	possibly damaging	Het
Acly	C	T	11: 100,389,112 (GRCm39)	A557T	probably benign	Het
Adgrl4	A	T	3: 151,214,948 (GRCm39)	T446S	probably damaging	Het
AK157302	A	G	13: 21,679,768 (GRCm39)	E98G	probably damaging	Het
Akap6	A	T	12: 53,187,853 (GRCm39)	T1756S	probably damaging	Het
Aldh1l1	A	G	6: 90,541,424 (GRCm39)	T273A	probably benign	Het
Aldh1l2	T	A	10: 83,342,614 (GRCm39)		probably null	Het
Alox12	T	C	11: 70,143,665 (GRCm39)	E201G	possibly damaging	Het
Arhgef16	A	G	4: 154,371,422 (GRCm39)	V257A	probably damaging	Het
Asxl3	C	T	18: 22,650,311 (GRCm39)	L767F	probably benign	Het
Atxn7l2	T	C	3: 108,110,565 (GRCm39)	K692R	probably null	Het
Btbd2	T	C	10: 80,484,481 (GRCm39)	D145G	probably damaging	Het
Cacna1b	A	T	2: 24,651,801 (GRCm39)	M126K	possibly damaging	Het
Cacna2d2	T	A	9: 107,404,346 (GRCm39)	C1081S	probably benign	Het
Cass4	T	C	2: 172,269,753 (GRCm39)	S612P	probably benign	Het
Cd209d	A	G	8: 3,926,337 (GRCm39)	S123P	probably damaging	Het
Cep112	T	C	11: 108,461,217 (GRCm39)	S665P	probably damaging	Het
Cnp	C	T	11: 100,467,437 (GRCm39)	R127W	probably damaging	Het
Col9a2	A	T	4: 120,898,226 (GRCm39)	D46V	unknown	Het
Cyp1a2	T	A	9: 57,587,562 (GRCm39)	N336I	probably benign	Het
Cyp2c37	A	G	19: 39,988,943 (GRCm39)	T301A	possibly damaging	Het
Dhtkd1	T	A	2: 5,935,622 (GRCm39)	E163D	probably benign	Het
Dido1	A	T	2: 180,325,354 (GRCm39)	F611L	probably benign	Het
Dnah9	T	A	11: 65,975,960 (GRCm39)	N1363I	probably damaging	Het
Drg2	A	G	11: 60,358,548 (GRCm39)	K331R	probably benign	Het
Fam171b	T	A	2: 83,690,787 (GRCm39)	I250K	probably damaging	Het
Fem1al	A	T	11: 29,775,253 (GRCm39)	V68E	probably damaging	Het
Fut8	T	A	12: 77,459,613 (GRCm39)	I242N	probably damaging	Het
Glyat	T	C	19: 12,628,844 (GRCm39)	V247A	probably benign	Het
Gucy2e	T	C	11: 69,123,516 (GRCm39)	N461S	probably benign	Het
Hif3a	T	A	7: 16,771,076 (GRCm39)	H627L	probably benign	Het
Ighv8-5	T	A	12: 115,031,228 (GRCm39)	T104S	probably benign	Het
Ighv8-9	C	T	12: 115,431,994 (GRCm39)	V106M	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Katna1	G	C	10: 7,638,590 (GRCm39)	E440D	probably null	Het
Kmt2c	T	C	5: 25,549,959 (GRCm39)	R1341G	probably damaging	Het
Krt14	C	T	11: 100,097,966 (GRCm39)	G106S	unknown	Het
Krt39	A	G	11: 99,409,188 (GRCm39)	C238R	possibly damaging	Het
Mak	C	T	13: 41,202,836 (GRCm39)	S204N	possibly damaging	Het
Map3k5	A	G	10: 19,810,812 (GRCm39)	Y154C	probably damaging	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Mgst1	A	T	6: 138,124,799 (GRCm39)	R38W	probably damaging	Het
Midn	A	G	10: 79,992,247 (GRCm39)	E433G	probably damaging	Het
Muc2	T	A	7: 141,280,785 (GRCm39)	C380*	probably null	Het
Nans	G	T	4: 46,499,129 (GRCm39)	K145N	possibly damaging	Het
Nbeal1	G	A	1: 60,299,741 (GRCm39)	W1359*	probably null	Het
Neo1	T	A	9: 58,889,503 (GRCm39)	E256V	probably benign	Het
Nkd1	C	A	8: 89,318,330 (GRCm39)	D322E	probably damaging	Het
Olfm4	T	C	14: 80,249,348 (GRCm39)	V155A	probably damaging	Het
Opa1	C	A	16: 29,437,029 (GRCm39)	S646*	probably null	Het
Or1p4-ps1	G	T	11: 74,208,709 (GRCm39)	C286F	unknown	Het
Or4f7	A	G	2: 111,644,604 (GRCm39)	S156P	probably damaging	Het
Or51ab3	T	A	7: 103,201,266 (GRCm39)	H91Q	probably benign	Het
Or52z1	T	A	7: 103,436,732 (GRCm39)	I251F	probably benign	Het
Or5b107	T	A	19: 13,142,813 (GRCm39)	L145Q	probably damaging	Het
Or5b12b	G	A	19: 12,861,874 (GRCm39)	V210M	probably benign	Het
Or7g29	A	T	9: 19,287,116 (GRCm39)	D20E	probably damaging	Het
Pcdh15	A	T	10: 74,467,212 (GRCm39)	H1743L	probably benign	Het
Ppp1r13b	T	C	12: 111,810,119 (GRCm39)	T230A	probably benign	Het
Ptf1a	G	T	2: 19,451,381 (GRCm39)	R237L	probably benign	Het
Ripk4	G	A	16: 97,549,306 (GRCm39)	P250L	possibly damaging	Het
Ropn1l	T	C	15: 31,453,649 (GRCm39)	H14R		Het
Setdb1	T	C	3: 95,233,173 (GRCm39)	S1122G	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc22a18	T	A	7: 143,046,678 (GRCm39)	M274K	probably benign	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Stau1	T	C	2: 166,791,695 (GRCm39)	M481V	probably benign	Het
Stk39	C	T	2: 68,198,775 (GRCm39)	G281E	probably damaging	Het
Stt3a	A	T	9: 36,670,079 (GRCm39)	L119Q	probably damaging	Het
Stx18	C	T	5: 38,196,635 (GRCm39)		probably benign	Het
Timm8b	A	G	9: 50,516,273 (GRCm39)	E42G	probably benign	Het
Togaram1	T	A	12: 65,014,168 (GRCm39)	L473*	probably null	Het
Trappc12	A	G	12: 28,797,457 (GRCm39)	I25T	probably benign	Het
Trim33	T	C	3: 103,244,823 (GRCm39)	S737P	possibly damaging	Het
Trmt1	A	C	8: 85,424,330 (GRCm39)	H455P	probably damaging	Het
Trpc1	C	T	9: 95,599,646 (GRCm39)	R471H	possibly damaging	Het
Ttll2	T	A	17: 7,618,707 (GRCm39)	T407S	probably benign	Het
Unc45b	T	A	11: 82,816,986 (GRCm39)	N475K	probably damaging	Het
Usp48	T	A	4: 137,321,812 (GRCm39)	I40N	probably benign	Het
Wdr7	T	G	18: 64,037,236 (GRCm39)	V1220G	probably damaging	Het
Zfp830	C	T	11: 82,655,805 (GRCm39)	T203I	possibly damaging	Het
Zfp955a	T	A	17: 33,461,149 (GRCm39)	I328F	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
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
X0022:Tgfbr3	UTSW	5	107,284,792 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATAAAGTGAGCTGCTCCCCG -3'
(R):5'- CCTGGTAGCCAAGGTAGAAG -3'

Sequencing Primer
(F):5'- CAGGGGAGAACAGATCTTTACTTTC -3'
(R):5'- GGCATGGCTGAGCAGTAGC -3'

Posted On

2022-11-14