Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Tgfbr2'

471958

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

044149-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5964 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

115916763-116004431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115939323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 168 (T168K)

Ref Sequence

ENSEMBL: ENSMUSP00000035014 (fasta)

Gene Model

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

AlphaFold

Q62312

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035014
AA Change: T168K

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: T168K

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

possibly damaging
Transcript: ENSMUST00000061101
AA Change: T193K

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: T193K

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

Meta Mutation Damage Score

0.2461

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,250,874 (GRCm39)	Q581*	probably null	Het
Agl	A	G	3: 116,587,423 (GRCm39)	V44A	probably damaging	Het
Alpk3	T	A	7: 80,742,008 (GRCm39)	D608E	possibly damaging	Het
Aspm	C	A	1: 139,382,965 (GRCm39)		probably benign	Het
Bbs2	T	C	8: 94,794,995 (GRCm39)	N692S	probably benign	Het
Bend4	A	G	5: 67,575,161 (GRCm39)	I240T	probably benign	Het
Casp8	G	T	1: 58,872,895 (GRCm39)	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,634,865 (GRCm39)	I123N	probably damaging	Het
Ccr9	T	G	9: 123,608,499 (GRCm39)	I60M	probably benign	Het
Cd163	T	A	6: 124,303,531 (GRCm39)	W1066R	probably benign	Het
Cd226	A	T	18: 89,225,307 (GRCm39)	H68L	probably benign	Het
Cdkn3	T	A	14: 47,004,674 (GRCm39)	C79S	probably null	Het
Cnnm1	A	T	19: 43,458,162 (GRCm39)	E658V	probably benign	Het
Cog7	T	C	7: 121,555,252 (GRCm39)	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,415,760 (GRCm39)	V286E	possibly damaging	Het
Creg2	C	A	1: 39,664,122 (GRCm39)	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,688,410 (GRCm39)	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,625,648 (GRCm39)	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,725,277 (GRCm39)	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,214,157 (GRCm39)	V744A	probably benign	Het
Dlgap2	T	A	8: 14,777,128 (GRCm39)	Y124*	probably null	Het
Dnah3	T	C	7: 119,522,103 (GRCm39)	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,730 (GRCm39)	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,052,553 (GRCm39)	V347D	probably benign	Het
Gigyf2	C	T	1: 87,334,889 (GRCm39)	T294M	probably damaging	Het
Gli3	C	G	13: 15,900,747 (GRCm39)	S1378*	probably null	Het
Gnao1	G	A	8: 94,693,627 (GRCm39)	D337N	probably benign	Het
Gp2	T	A	7: 119,048,352 (GRCm39)	Q422L	probably benign	Het
Ifit1	T	A	19: 34,625,869 (GRCm39)	M335K	possibly damaging	Het
Ism1	T	C	2: 139,520,677 (GRCm39)	S30P	probably benign	Het
Itgax	A	G	7: 127,739,619 (GRCm39)	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,765,081 (GRCm39)	A442V	probably damaging	Het
Kif13a	T	C	13: 46,925,000 (GRCm39)	I311M	probably damaging	Het
Lrrc37	A	G	11: 103,432,946 (GRCm39)	S1232P	possibly damaging	Het
Lsm14b	T	A	2: 179,673,218 (GRCm39)	S84R	probably benign	Het
Lzts3	A	G	2: 130,478,208 (GRCm39)	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,952,191 (GRCm39)	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,311 (GRCm39)	N501I	probably damaging	Het
Mctp2	T	C	7: 71,752,925 (GRCm39)	E776G	probably damaging	Het
Mex3d	A	T	10: 80,218,421 (GRCm39)	N265K	probably damaging	Het
Myo5a	A	G	9: 75,111,115 (GRCm39)	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,580,632 (GRCm39)	M35V	probably damaging	Het
Nek4	G	A	14: 30,679,036 (GRCm39)		probably null	Het
Ngrn	T	C	7: 79,911,681 (GRCm39)		probably null	Het
Nlrp1a	T	A	11: 71,013,846 (GRCm39)	Q468L	probably benign	Het
Or11g27	T	A	14: 50,771,655 (GRCm39)	M262K	probably damaging	Het
Or5b98	A	C	19: 12,931,895 (GRCm39)	Q314P	probably benign	Het
Phtf2	T	C	5: 20,980,932 (GRCm39)	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852 (GRCm39)	Q140*	probably null	Het
Prtg	G	A	9: 72,799,536 (GRCm39)	G778E	probably benign	Het
Pum3	T	C	19: 27,397,451 (GRCm39)	E308G	probably damaging	Het
Pwp1	T	G	10: 85,718,750 (GRCm39)	F306V	probably damaging	Het
Rab24	A	T	13: 55,469,389 (GRCm39)	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,085,898 (GRCm39)	F126L	probably benign	Het
Samd13	A	T	3: 146,386,451 (GRCm39)		probably benign	Het
Serac1	T	A	17: 6,115,324 (GRCm39)	H213L	probably benign	Het
Slc45a3	A	G	1: 131,905,811 (GRCm39)	E278G	probably damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slx4	A	T	16: 3,818,815 (GRCm39)		probably null	Het
Smarca4	C	A	9: 21,558,726 (GRCm39)	T631K	probably benign	Het
Snx16	C	T	3: 10,499,541 (GRCm39)	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,022,688 (GRCm39)	V140A	probably damaging	Het
Tcf12	A	T	9: 71,775,522 (GRCm39)	D409E	probably damaging	Het
Ticam1	G	T	17: 56,578,703 (GRCm39)	H131N	probably damaging	Het
Ttn	C	A	2: 76,660,232 (GRCm39)	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,543,855 (GRCm39)	E31298*	probably null	Het
Usp7	A	G	16: 8,529,966 (GRCm39)	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wdfy4	T	C	14: 32,827,968 (GRCm39)	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,555,819 (GRCm39)	P3A	probably damaging	Het
Znhit6	A	G	3: 145,282,688 (GRCm39)	K21R	possibly damaging	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
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
R7228:Tgfbr2	UTSW	9	115,939,011 (GRCm39)	missense	probably damaging	1.00
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'- TTCAGCTTGGCCTTGTAGACC -3'
(R):5'- CGGACCCAGTTTAGATGCTAC -3'

Sequencing Primer
(F):5'- CTTGTAGACCTCGGCGAAG -3'
(R):5'- ACCCAGTTTAGATGCTACCGTGC -3'

Posted On

2017-03-31