Mutagenetix > Incidental Mutation

Incidental Mutation 'R0617:Tgfbr2'

58443

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

038806-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115916763-116004431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115987388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 40 (D40E)

Ref Sequence

ENSEMBL: ENSMUSP00000062333 (fasta)

Gene Model

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

AlphaFold

Q62312

Predicted Effect

probably benign
Transcript: ENSMUST00000035014

SMART Domains

Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440

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 benign
Transcript: ENSMUST00000061101
AA Change: D40E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: D40E

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

0.0604

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

98% (130/133)

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	A	T	8: 49,953,527 (GRCm39)		noncoding transcript	Het
A630073D07Rik	T	C	6: 132,603,700 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,032,834 (GRCm39)		probably benign	Het
Abca5	A	T	11: 110,170,515 (GRCm39)	D1265E	probably damaging	Het
Abcf1	C	T	17: 36,272,079 (GRCm39)	V312I	probably benign	Het
Abhd12	T	A	2: 150,688,285 (GRCm39)		probably null	Het
Adam23	A	G	1: 63,582,306 (GRCm39)	H318R	probably benign	Het
Adcy2	T	A	13: 68,826,725 (GRCm39)	K660*	probably null	Het
Adgrf3	T	C	5: 30,400,078 (GRCm39)	T972A	probably benign	Het
Adipoq	T	A	16: 22,974,160 (GRCm39)	D62E	probably damaging	Het
Alk	G	T	17: 72,910,578 (GRCm39)	P43T	probably damaging	Het
Arap2	AT	ATT	5: 62,807,250 (GRCm39)		probably benign	Het
Arhgef28	G	T	13: 98,106,863 (GRCm39)	T687K	probably benign	Het
Arrb1	T	C	7: 99,243,884 (GRCm39)	L278P	probably damaging	Het
Atad2b	C	A	12: 4,987,401 (GRCm39)	D76E	probably benign	Het
Atm	A	T	9: 53,370,241 (GRCm39)	Y2290*	probably null	Het
Atrn	T	A	2: 130,837,005 (GRCm39)		probably null	Het
Bpifb1	A	G	2: 154,054,867 (GRCm39)	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,161,545 (GRCm39)	T559M	probably benign	Het
Bsn	T	C	9: 107,984,439 (GRCm39)	E3205G	unknown	Het
Cacna1c	T	C	6: 118,579,174 (GRCm39)	Y1599C	probably damaging	Het
Ccdc40	A	G	11: 119,133,630 (GRCm39)	D590G	probably damaging	Het
Ccdc68	A	G	18: 70,079,623 (GRCm39)		probably null	Het
Ccdc97	G	A	7: 25,413,845 (GRCm39)	R279C	probably damaging	Het
Ccm2l	A	G	2: 152,912,820 (GRCm39)	T120A	probably damaging	Het
Cfap54	T	C	10: 92,665,512 (GRCm39)		probably benign	Het
Cfh	A	G	1: 140,028,621 (GRCm39)	S1043P	probably benign	Het
Chil3	T	C	3: 106,063,072 (GRCm39)	K173E	probably benign	Het
Cib2	T	C	9: 54,461,780 (GRCm39)	D26G	possibly damaging	Het
Col24a1	T	C	3: 145,019,881 (GRCm39)	V84A	probably damaging	Het
Csn3	T	C	5: 88,077,730 (GRCm39)	Y79H	probably benign	Het
Ddx47	T	A	6: 134,994,085 (GRCm39)	V149E	probably damaging	Het
Dennd5b	A	T	6: 148,934,760 (GRCm39)		probably benign	Het
Desi1	T	C	15: 81,882,399 (GRCm39)	N109D	probably damaging	Het
Fam13c	T	C	10: 70,372,182 (GRCm39)		probably benign	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fanca	A	G	8: 124,014,809 (GRCm39)	F831S	probably damaging	Het
Fancm	C	T	12: 65,144,091 (GRCm39)	R518*	probably null	Het
Fat2	A	G	11: 55,202,669 (GRCm39)	V135A	possibly damaging	Het
Fbxl17	A	C	17: 63,691,987 (GRCm39)	F42V	probably damaging	Het
Fgd3	A	T	13: 49,418,173 (GRCm39)	V631E	possibly damaging	Het
Fhod3	G	A	18: 25,245,736 (GRCm39)		probably benign	Het
Focad	T	C	4: 88,039,525 (GRCm39)		probably benign	Het
Foxn4	C	A	5: 114,399,129 (GRCm39)		probably benign	Het
Gm2381	A	T	7: 42,469,402 (GRCm39)	C241S	probably damaging	Het
Gm6483	T	G	8: 19,743,725 (GRCm39)	F117V	probably damaging	Het
Hectd4	T	C	5: 121,481,295 (GRCm39)		probably benign	Het
Hecw1	T	A	13: 14,455,027 (GRCm39)	Q676L	probably benign	Het
Hipk2	G	A	6: 38,724,420 (GRCm39)	R437C	possibly damaging	Het
Ifnar1	T	C	16: 91,298,570 (GRCm39)	Y396H	probably damaging	Het
Ints5	A	T	19: 8,873,383 (GRCm39)	K447N	probably damaging	Het
Iqsec1	T	C	6: 90,666,952 (GRCm39)	Y495C	probably damaging	Het
Itga5	C	T	15: 103,264,742 (GRCm39)		probably null	Het
Kcnk4	T	A	19: 6,905,528 (GRCm39)		probably benign	Het
Kmo	A	G	1: 175,474,756 (GRCm39)	T174A	possibly damaging	Het
Krt36	T	C	11: 99,993,101 (GRCm39)	D458G	probably damaging	Het
Krtap16-1	G	T	11: 99,877,321 (GRCm39)	P28T	probably damaging	Het
Lama3	T	C	18: 12,552,315 (GRCm39)		probably null	Het
Lrrc9	T	C	12: 72,529,788 (GRCm39)	S920P	probably damaging	Het
Lrrk2	A	T	15: 91,636,481 (GRCm39)	Y1485F	probably benign	Het
Mical1	C	T	10: 41,357,311 (GRCm39)	A372V	probably damaging	Het
Ms4a20	C	A	19: 11,089,764 (GRCm39)	L40F	probably damaging	Het
Mtr	C	T	13: 12,236,318 (GRCm39)	R636Q	probably benign	Het
Muc4	A	T	16: 32,570,925 (GRCm39)	T662S	possibly damaging	Het
Myo10	G	A	15: 25,738,091 (GRCm39)	V546M	probably damaging	Het
Nbeal1	G	A	1: 60,320,991 (GRCm39)	W2034*	probably null	Het
Nhlrc3	T	C	3: 53,366,044 (GRCm39)	T150A	probably damaging	Het
Nicol1	T	C	5: 34,140,896 (GRCm39)		probably benign	Het
Nkx2-1	T	C	12: 56,581,640 (GRCm39)	H69R	possibly damaging	Het
Nlrp4g	A	T	9: 124,349,540 (GRCm38)		noncoding transcript	Het
Nod2	A	G	8: 89,379,859 (GRCm39)	N120S	probably benign	Het
Nol8	T	C	13: 49,807,921 (GRCm39)	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,691,240 (GRCm39)	D308G	possibly damaging	Het
Oog3	A	T	4: 143,886,784 (GRCm39)	V112D	probably benign	Het
Or10ag58	A	G	2: 87,265,005 (GRCm39)	D58G	probably damaging	Het
Or4a66	A	G	2: 88,531,040 (GRCm39)	V211A	probably damaging	Het
Or51i1	A	T	7: 103,671,196 (GRCm39)	S110T	probably damaging	Het
Or5af2	T	C	11: 58,707,975 (GRCm39)	V47A	probably damaging	Het
Or5b106	T	C	19: 13,123,727 (GRCm39)	M99V	probably benign	Het
Or5b120	C	A	19: 13,479,900 (GRCm39)	N64K	probably damaging	Het
Or5m9b	A	G	2: 85,905,485 (GRCm39)	M134V	probably benign	Het
Or9s18	A	T	13: 65,300,692 (GRCm39)	Y218F	possibly damaging	Het
Pakap	T	C	4: 57,829,434 (GRCm39)		probably benign	Het
Pcdhb8	C	T	18: 37,490,100 (GRCm39)	R593C	probably benign	Het
Pgm3	A	G	9: 86,438,243 (GRCm39)		probably null	Het
Pirt	T	A	11: 66,816,998 (GRCm39)	V103E	probably damaging	Het
Plxnc1	T	A	10: 94,635,230 (GRCm39)	D1332V	probably damaging	Het
Ppfia4	A	T	1: 134,256,518 (GRCm39)	V122E	probably damaging	Het
Pramel14	A	G	4: 143,720,088 (GRCm39)		probably benign	Het
Prmt2	C	T	10: 76,044,517 (GRCm39)		probably benign	Het
Prrc2a	G	T	17: 35,372,536 (GRCm39)	P1702T	probably damaging	Het
Prss39	A	T	1: 34,539,279 (GRCm39)	H173L	probably damaging	Het
Rabl6	A	G	2: 25,476,878 (GRCm39)		probably null	Het
Rb1cc1	T	A	1: 6,319,014 (GRCm39)	I794K	possibly damaging	Het
Reln	T	C	5: 22,125,535 (GRCm39)	D2716G	probably damaging	Het
Sbf2	ACC	AC	7: 109,929,890 (GRCm39)		probably null	Het
Sema6d	T	A	2: 124,502,665 (GRCm39)	F583L	possibly damaging	Het
Setx	T	A	2: 29,036,819 (GRCm39)	H1101Q	possibly damaging	Het
Sis	A	G	3: 72,872,938 (GRCm39)	C67R	probably damaging	Het
Skint1	T	A	4: 111,886,596 (GRCm39)		probably benign	Het
Smg6	C	A	11: 75,053,757 (GRCm39)	T1413K	probably benign	Het
Spata31d1a	A	T	13: 59,850,073 (GRCm39)	I685N	possibly damaging	Het
Spef2	T	A	15: 9,592,844 (GRCm39)	N1499I	probably damaging	Het
Stk11ip	T	A	1: 75,508,932 (GRCm39)		probably null	Het
Stxbp1	A	C	2: 32,692,795 (GRCm39)	I407S	probably damaging	Het
Svil	T	C	18: 5,117,002 (GRCm39)	S2059P	probably damaging	Het
Syne1	C	T	10: 5,300,933 (GRCm39)	V932M	probably damaging	Het
Tacc1	A	C	8: 25,668,020 (GRCm39)		probably benign	Het
Tbc1d13	C	A	2: 30,025,576 (GRCm39)		probably benign	Het
Tbc1d15	A	C	10: 115,075,204 (GRCm39)	D59E	probably damaging	Het
Tcaf2	A	G	6: 42,619,445 (GRCm39)	F194S	probably damaging	Het
Terf2ip	T	A	8: 112,738,127 (GRCm39)	M5K	probably benign	Het
Tm4sf5	T	A	11: 70,401,495 (GRCm39)	S165T	probably damaging	Het
Tmprss3	A	T	17: 31,412,886 (GRCm39)	C129S	probably damaging	Het
Tmx2	T	C	2: 84,502,740 (GRCm39)	D256G	probably benign	Het
Tnr	A	G	1: 159,695,673 (GRCm39)	D532G	probably damaging	Het
Tnrc18	T	A	5: 142,762,494 (GRCm39)	H465L	unknown	Het
Togaram2	A	T	17: 72,007,504 (GRCm39)	Q350L	possibly damaging	Het
Topaz1	G	A	9: 122,578,971 (GRCm39)	C627Y	possibly damaging	Het
Tpx2	A	T	2: 152,715,058 (GRCm39)	Q93L	probably benign	Het
Trim54	T	C	5: 31,293,526 (GRCm39)		probably null	Het
Troap	T	A	15: 98,980,541 (GRCm39)	C574S	probably damaging	Het
Tut7	A	T	13: 59,964,669 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,206,373 (GRCm39)		probably null	Het
Vmn2r51	A	G	7: 9,834,396 (GRCm39)	V214A	possibly damaging	Het
Vmn2r66	A	T	7: 84,644,484 (GRCm39)	M642K	probably benign	Het
Vwa5a	T	A	9: 38,635,191 (GRCm39)	I232N	probably damaging	Het
Zfp820	A	T	17: 22,038,685 (GRCm39)	S214R	probably damaging	Het
Zfp955b	A	T	17: 33,524,437 (GRCm39)	S43R	probably damaging	Het
Zgrf1	C	T	3: 127,381,687 (GRCm39)	T1162M	probably benign	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
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
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'- ACCTGAAAGAAGACAGTCCCTGGC -3'
(R):5'- TCTCCAGGCAGATGGGAAAGTAGC -3'

Sequencing Primer
(F):5'- cagaagagggggctggg -3'
(R):5'- CTTTATTCTCAGCGAAGTAGGC -3'

Posted On

2013-07-11