Mutagenetix > Incidental Mutation

Incidental Mutation 'R7258:Tgfbr2'

564429

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

045386-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115916763-116004431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115958898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 172 (I172N)

Ref Sequence

ENSEMBL: ENSMUSP00000062333 (fasta)

Gene Model

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

AlphaFold

Q62312

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035014
AA Change: I147N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: I147N

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: I172N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: I172N

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

0.6710

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	C	8: 88,312,805 (GRCm39)	S197R	probably damaging	Het
Abcc12	T	C	8: 87,287,486 (GRCm39)	R120G	possibly damaging	Het
Abhd14b	A	G	9: 106,327,418 (GRCm39)	I67V	probably benign	Het
Alpk1	A	T	3: 127,518,115 (GRCm39)	V62E	probably damaging	Het
Ankar	A	G	1: 72,690,886 (GRCm39)	V1196A	probably benign	Het
Ccr5	A	T	9: 123,925,311 (GRCm39)	K305*	probably null	Het
Cdc42bpb	T	C	12: 111,292,518 (GRCm39)	H339R	probably damaging	Het
Cdhr18	A	T	14: 13,899,648 (GRCm38)	F91L		Het
Cep290	T	G	10: 100,334,970 (GRCm39)	M330R	probably benign	Het
Cyfip2	T	C	11: 46,115,004 (GRCm39)	Y901C	probably benign	Het
Ddx54	T	G	5: 120,758,812 (GRCm39)	Y352D	probably damaging	Het
Defa35	A	T	8: 21,555,245 (GRCm39)	H55L	possibly damaging	Het
Dnmt3b	T	A	2: 153,525,519 (GRCm39)		probably null	Het
Enpep	A	C	3: 129,125,724 (GRCm39)	L136R	probably benign	Het
Epb41l2	G	A	10: 25,360,185 (GRCm39)	A516T	probably damaging	Het
Frmd4a	A	T	2: 4,305,764 (GRCm39)	Q13L	probably benign	Het
Frmpd1	C	A	4: 45,269,974 (GRCm39)	D271E	possibly damaging	Het
Gbp5	T	A	3: 142,212,542 (GRCm39)	L410H	probably damaging	Het
Gipc2	T	C	3: 151,871,352 (GRCm39)	E58G	probably damaging	Het
Gm6309	A	T	5: 146,105,106 (GRCm39)	V269E	probably benign	Het
Grm5	A	T	7: 87,723,914 (GRCm39)	T735S	probably damaging	Het
H6pd	T	C	4: 150,080,819 (GRCm39)	M9V	probably benign	Het
Hmcn1	A	G	1: 150,591,574 (GRCm39)	I1875T	probably benign	Het
Hrc	T	A	7: 44,985,720 (GRCm39)	D290E	possibly damaging	Het
Iftap	T	C	2: 101,440,937 (GRCm39)	D22G	probably null	Het
Ippk	C	A	13: 49,587,338 (GRCm39)	Q136K	probably benign	Het
Kcnv1	T	C	15: 44,972,711 (GRCm39)	T391A	probably damaging	Het
Kdm5b	A	C	1: 134,548,759 (GRCm39)	E1088A	probably damaging	Het
L1td1	C	T	4: 98,625,101 (GRCm39)	A432V	probably benign	Het
Ly86	A	G	13: 37,529,473 (GRCm39)	D20G	probably benign	Het
Myo1g	A	G	11: 6,459,416 (GRCm39)	I818T	possibly damaging	Het
Nms	A	G	1: 38,986,051 (GRCm39)	T121A	probably benign	Het
Or1e31	T	G	11: 73,690,206 (GRCm39)	I126L	probably damaging	Het
Or1j4	T	A	2: 36,740,352 (GRCm39)	I98K	probably damaging	Het
Or51af1	G	C	7: 103,141,796 (GRCm39)	C96W	probably damaging	Het
Or6b3	A	T	1: 92,438,898 (GRCm39)	I284N	possibly damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or8k37	T	A	2: 86,469,345 (GRCm39)	K236*	probably null	Het
Pcdhb9	T	C	18: 37,535,167 (GRCm39)	L387P	probably damaging	Het
Pcsk1	G	A	13: 75,241,305 (GRCm39)	R95H	probably damaging	Het
Pde11a	T	C	2: 75,970,250 (GRCm39)	D502G	possibly damaging	Het
Plekhg2	T	C	7: 28,064,203 (GRCm39)	D446G	probably benign	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rasal2	A	T	1: 156,985,270 (GRCm39)	L826M	probably damaging	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Sin3b	T	C	8: 73,476,836 (GRCm39)	C757R	probably benign	Het
Slc41a1	T	A	1: 131,769,780 (GRCm39)	V300D	probably benign	Het
Snorc	A	C	1: 87,402,789 (GRCm39)	I40L	probably benign	Het
Snrpa1	T	C	7: 65,719,891 (GRCm39)	F162L	probably damaging	Het
Sox30	C	A	11: 45,871,379 (GRCm39)	A78E	unknown	Het
Ssc4d	G	T	5: 135,991,941 (GRCm39)	A401E	probably damaging	Het
Steap3	A	G	1: 120,171,716 (GRCm39)	F130L	possibly damaging	Het
Stx5a	A	G	19: 8,732,271 (GRCm39)		probably null	Het
Tgm4	A	G	9: 122,891,556 (GRCm39)	D557G	probably benign	Het
Tmprss11c	A	G	5: 86,419,272 (GRCm39)	S96P	probably damaging	Het
Trpa1	T	G	1: 14,973,473 (GRCm39)	T282P	probably damaging	Het
Uba5	A	T	9: 103,940,132 (GRCm39)	V5E	unknown	Het
Ugt2b36	A	T	5: 87,228,762 (GRCm39)	L427H	probably damaging	Het
Utp14b	T	A	1: 78,642,691 (GRCm39)	H196Q	probably benign	Het
Vmn2r44	T	A	7: 8,380,848 (GRCm39)	L348F	probably damaging	Het
Vmn2r93	T	G	17: 18,525,403 (GRCm39)	L354V	probably benign	Het
Wwc2	T	A	8: 48,296,034 (GRCm39)	N1079Y	unknown	Het
Zfp653	T	C	9: 21,977,116 (GRCm39)	D145G	probably benign	Het
Zfp777	T	C	6: 48,002,731 (GRCm39)	E453G	probably damaging	Het
Zfp936	T	A	7: 42,839,803 (GRCm39)	H423Q	probably damaging	Het
Zfyve9	A	T	4: 108,514,151 (GRCm39)	Y496N	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
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
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'- GCTTGGGAAAAGAACCATCG -3'
(R):5'- TGTCTTCAACAAACCTCTGTGC -3'

Sequencing Primer
(F):5'- CTTGGGAAAAGAACCATCGCTCTG -3'
(R):5'- AAACCTCTGTGCCCCAGGAG -3'

Posted On

2019-06-26