Mutagenetix > Incidental Mutation

Incidental Mutation 'R7228:Tgfbr2'

562293

Institutional Source

Beutler Lab

Gene Symbol

Tgfbr2

Ensembl Gene

ENSMUSG00000032440

Gene Name

transforming growth factor, beta receptor II

Synonyms

TbetaRII, TBR-II, TbetaR-II, 1110020H15Rik

MMRRC Submission

045300-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115916763-116004431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115939011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 297 (E297G)

Ref Sequence

ENSEMBL: ENSMUSP00000062333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035014] [ENSMUST00000061101]

AlphaFold

Q62312

Predicted Effect

probably damaging
Transcript: ENSMUST00000035014
AA Change: E272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: E272G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ecTbetaR2	47	165	1.8e-55	PFAM
Pfam:Pkinase	244	538	9.9e-52	PFAM
Pfam:Pkinase_Tyr	244	538	2.9e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000061101
AA Change: E297G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: E297G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ecTbetaR2	74	184	4.6e-45	PFAM
transmembrane domain	189	211	N/A	INTRINSIC
Pfam:Pkinase	269	563	2.7e-36	PFAM
Pfam:Pkinase_Tyr	269	563	5e-37	PFAM

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 gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die in midgestation with impaired yolk sac hematopoiesis and vasculogenesis. Selective knockouts in bone marrow cells and cranial neural crest show inflammation and cleft palate/calvarial defects, respectively. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,653 (GRCm39)	F2467I	probably benign	Het
Acod1	A	G	14: 103,286,765 (GRCm39)	T23A	probably benign	Het
Adam2	T	A	14: 66,291,361 (GRCm39)	K306*	probably null	Het
Adcy10	A	C	1: 165,337,841 (GRCm39)	I152L	probably damaging	Het
Amigo1	T	C	3: 108,094,546 (GRCm39)	L15P	probably benign	Het
Aqp2	A	G	15: 99,480,005 (GRCm39)	N156S	probably benign	Het
AU041133	A	G	10: 81,987,105 (GRCm39)	K253E	possibly damaging	Het
Cacna1s	A	G	1: 135,998,797 (GRCm39)	T231A	possibly damaging	Het
Carf	A	T	1: 60,148,553 (GRCm39)	N83I	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,532 (GRCm39)	K140R	probably benign	Het
Cdc42bpb	C	T	12: 111,271,527 (GRCm39)	V1111M	possibly damaging	Het
Cep78	A	G	19: 15,946,561 (GRCm39)	S424P	probably benign	Het
Cfap74	G	A	4: 155,549,507 (GRCm39)	V123M	unknown	Het
Crot	T	A	5: 9,026,051 (GRCm39)	N312I	probably damaging	Het
Cyp2c69	C	A	19: 39,869,610 (GRCm39)	M136I	possibly damaging	Het
Cyp4f39	A	G	17: 32,710,803 (GRCm39)	D454G	probably damaging	Het
Dnaja4	A	T	9: 54,621,569 (GRCm39)	H298L	possibly damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Eif3j2	T	C	18: 43,610,574 (GRCm39)	K80E	probably damaging	Het
Elp4	T	A	2: 105,622,647 (GRCm39)	I351F	probably damaging	Het
Fbxw26	C	G	9: 109,554,012 (GRCm39)	G209A	possibly damaging	Het
Fsip2	T	A	2: 82,822,651 (GRCm39)	V6128D	possibly damaging	Het
Gli3	A	G	13: 15,899,087 (GRCm39)	T825A	probably benign	Het
Gm2042	A	G	12: 87,924,719 (GRCm39)	E60G	probably benign	Het
Gm26566	G	T	4: 88,640,542 (GRCm39)	R111L	unknown	Het
Gm3138	C	A	14: 15,632,269 (GRCm39)	H147Q	probably damaging	Het
Gucy1b1	T	A	3: 81,940,581 (GRCm39)	N615I	unknown	Het
Ighv14-1	A	T	12: 113,895,981 (GRCm39)	F8I	not run	Het
Kcnh8	C	T	17: 53,263,744 (GRCm39)	T747I	probably benign	Het
Kctd1	T	A	18: 15,195,469 (GRCm39)	S385C	possibly damaging	Het
Lmo7	T	A	14: 102,133,971 (GRCm39)	M672K	probably damaging	Het
Lrrc69	T	A	4: 14,775,027 (GRCm39)	K80N	probably damaging	Het
Map2k5	C	T	9: 63,265,304 (GRCm39)	D75N	probably damaging	Het
Matr3	T	C	18: 35,695,537 (GRCm39)	V4A	unknown	Het
Megf10	T	C	18: 57,322,661 (GRCm39)	C69R	probably damaging	Het
Mettl1	A	G	10: 126,881,152 (GRCm39)	E221G	probably benign	Het
Mkrn3	C	A	7: 62,069,415 (GRCm39)	R125S	probably benign	Het
Mlh3	A	T	12: 85,282,430 (GRCm39)	L1401Q	probably benign	Het
Nacad	T	C	11: 6,548,412 (GRCm39)	I1412V	probably benign	Het
Nkain4	A	T	2: 180,596,362 (GRCm39)		probably null	Het
Notch2	T	A	3: 98,044,633 (GRCm39)	C1518*	probably null	Het
Npw	A	G	17: 24,877,065 (GRCm39)	V112A	probably benign	Het
Or10a5	A	T	7: 106,636,307 (GRCm39)	H315L	probably benign	Het
Or2v1	T	A	11: 49,025,706 (GRCm39)	M229K	possibly damaging	Het
Pdzd2	T	C	15: 12,373,059 (GRCm39)	T2359A	probably benign	Het
Pdzd2	T	A	15: 12,458,231 (GRCm39)	K37*	probably null	Het
Phkb	T	G	8: 86,569,636 (GRCm39)		probably benign	Het
Pou2af2	T	C	9: 51,202,956 (GRCm39)	D66G	probably damaging	Het
Prrc2b	C	A	2: 32,104,318 (GRCm39)	Y1265*	probably null	Het
Rab31	T	A	17: 66,024,548 (GRCm39)	M44L	probably benign	Het
Rap1gds1	C	T	3: 138,663,228 (GRCm39)	G373R	probably damaging	Het
Rapgef2	T	C	3: 78,976,525 (GRCm39)	D1279G	probably benign	Het
Rbm46	T	C	3: 82,749,840 (GRCm39)	D468G	probably benign	Het
Ryr3	T	C	2: 112,692,197 (GRCm39)	E1059G	probably damaging	Het
Sez6l2	T	C	7: 126,552,897 (GRCm39)	L221P	probably damaging	Het
Slit3	T	A	11: 35,490,245 (GRCm39)	V361E	probably damaging	Het
Soat1	G	A	1: 156,261,808 (GRCm39)	S400F	probably damaging	Het
Spp1	T	C	5: 104,588,311 (GRCm39)	S238P	probably damaging	Het
Tdpoz8	T	A	3: 92,980,993 (GRCm39)	C4S	possibly damaging	Het
Tfap2c	T	C	2: 172,393,492 (GRCm39)	S136P	probably benign	Het
Trim2	T	C	3: 84,099,488 (GRCm39)	D228G	probably benign	Het
Wdr82	C	A	9: 106,053,871 (GRCm39)	A74E	probably benign	Het
Zfp451	T	C	1: 33,842,475 (GRCm39)	T136A	unknown	Het

Other mutations in Tgfbr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Tgfbr2	APN	9	115,939,257 (GRCm39)	missense	probably damaging	0.99
IGL00484:Tgfbr2	APN	9	115,987,357 (GRCm39)	missense	probably benign	0.00
IGL01010:Tgfbr2	APN	9	115,959,048 (GRCm39)	missense	possibly damaging	0.80
IGL01656:Tgfbr2	APN	9	115,938,737 (GRCm39)	missense	probably damaging	1.00
IGL02496:Tgfbr2	APN	9	115,919,486 (GRCm39)	missense	probably benign	0.13
IGL02550:Tgfbr2	APN	9	115,939,197 (GRCm39)	missense	probably benign
IGL02563:Tgfbr2	APN	9	115,959,066 (GRCm39)	missense	probably benign	0.10
IGL03403:Tgfbr2	APN	9	115,939,370 (GRCm39)	missense	probably benign
Balm	UTSW	9	115,958,898 (GRCm39)	missense	probably damaging	0.98
emollient	UTSW	9	115,939,323 (GRCm39)	missense	possibly damaging	0.64
IGL02799:Tgfbr2	UTSW	9	115,939,204 (GRCm39)	missense	possibly damaging	0.50
R0617:Tgfbr2	UTSW	9	115,987,388 (GRCm39)	missense	probably benign	0.00
R1483:Tgfbr2	UTSW	9	115,938,625 (GRCm39)	missense	probably benign	0.04
R1776:Tgfbr2	UTSW	9	116,004,035 (GRCm39)	missense	possibly damaging	0.94
R1777:Tgfbr2	UTSW	9	115,938,948 (GRCm39)	missense	probably damaging	0.99
R1831:Tgfbr2	UTSW	9	115,919,604 (GRCm39)	missense	possibly damaging	0.74
R2323:Tgfbr2	UTSW	9	115,939,212 (GRCm39)	missense	possibly damaging	0.90
R2378:Tgfbr2	UTSW	9	115,959,018 (GRCm39)	missense	probably benign	0.02
R3123:Tgfbr2	UTSW	9	115,939,137 (GRCm39)	missense	possibly damaging	0.95
R3418:Tgfbr2	UTSW	9	115,958,901 (GRCm39)	missense	probably damaging	1.00
R3605:Tgfbr2	UTSW	9	115,938,960 (GRCm39)	missense	probably benign	0.03
R4039:Tgfbr2	UTSW	9	116,004,105 (GRCm39)	start codon destroyed	probably null	0.62
R4191:Tgfbr2	UTSW	9	115,939,009 (GRCm39)	missense	probably damaging	1.00
R4193:Tgfbr2	UTSW	9	115,939,009 (GRCm39)	missense	probably damaging	1.00
R4945:Tgfbr2	UTSW	9	115,960,633 (GRCm39)	missense	probably benign
R5431:Tgfbr2	UTSW	9	115,960,669 (GRCm39)	missense	probably damaging	0.99
R5714:Tgfbr2	UTSW	9	116,004,092 (GRCm39)	missense	probably damaging	0.98
R5964:Tgfbr2	UTSW	9	115,939,323 (GRCm39)	missense	possibly damaging	0.64
R6180:Tgfbr2	UTSW	9	115,939,212 (GRCm39)	missense	possibly damaging	0.90
R6970:Tgfbr2	UTSW	9	115,939,119 (GRCm39)	missense	probably damaging	0.97
R7258:Tgfbr2	UTSW	9	115,958,898 (GRCm39)	missense	probably damaging	0.98
R7315:Tgfbr2	UTSW	9	115,938,806 (GRCm39)	missense	possibly damaging	0.49
R8171:Tgfbr2	UTSW	9	115,959,074 (GRCm39)	nonsense	probably null
R8175:Tgfbr2	UTSW	9	115,939,023 (GRCm39)	missense	possibly damaging	0.92
R8417:Tgfbr2	UTSW	9	115,939,197 (GRCm39)	missense	probably benign
R9288:Tgfbr2	UTSW	9	115,939,149 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTCCCAGCTGATGACATG -3'
(R):5'- TCAGTGACAATTGTGCCATCATC -3'

Sequencing Primer
(F):5'- AGCTGATGACATGCCTCGTGAG -3'
(R):5'- GACAATTGTGCCATCATCCTGGAG -3'

Posted On

2019-06-26