Mutagenetix > Incidental Mutation

Incidental Mutation 'R1483:Tgfbr2'

165712

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

039536-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115916763-116004431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115938625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 426 (S426A)

Ref Sequence

ENSEMBL: ENSMUSP00000062333 (fasta)

Gene Model

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

AlphaFold

Q62312

Predicted Effect

probably benign
Transcript: ENSMUST00000035014
AA Change: S401A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: S401A

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: S426A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: S426A

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,531,754 (GRCm39)	T494S	probably benign	Het
Akap6	C	T	12: 52,842,870 (GRCm39)	P73S	probably damaging	Het
Amotl2	A	T	9: 102,608,096 (GRCm39)	T763S	probably benign	Het
Brd10	G	A	19: 29,696,745 (GRCm39)	P916L	possibly damaging	Het
Cdc5l	A	T	17: 45,719,290 (GRCm39)	V541D	possibly damaging	Het
Chl1	A	G	6: 103,624,248 (GRCm39)	Y52C	probably damaging	Het
D6Wsu163e	A	G	6: 126,931,733 (GRCm39)	E255G	probably benign	Het
Ddhd2	A	G	8: 26,243,155 (GRCm39)	S126P	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Drc3	A	G	11: 60,279,715 (GRCm39)	I427V	probably benign	Het
Drg2	T	C	11: 60,350,353 (GRCm39)	I104T	probably damaging	Het
Dst	C	T	1: 34,292,079 (GRCm39)	A932V	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Eif3a	A	T	19: 60,757,164 (GRCm39)	D880E	unknown	Het
Elf1	T	A	14: 79,818,078 (GRCm39)	D569E	probably benign	Het
Esp6	T	A	17: 40,873,816 (GRCm39)	M1K	probably null	Het
Fer1l6	T	C	15: 58,509,819 (GRCm39)	V1427A	possibly damaging	Het
Gsta1	A	T	9: 78,149,775 (GRCm39)	K196M	probably damaging	Het
Gzme	T	A	14: 56,356,169 (GRCm39)	I110F	probably damaging	Het
H2-DMa	T	A	17: 34,354,724 (GRCm39)	V27E	possibly damaging	Het
H2-T10	A	T	17: 36,432,038 (GRCm39)	S2T	probably benign	Het
Hadhb	A	G	5: 30,374,492 (GRCm39)		probably null	Het
Hoxa11	G	T	6: 52,220,436 (GRCm39)	D282E	probably damaging	Het
Ifit1bl1	A	G	19: 34,572,041 (GRCm39)	Y139H	possibly damaging	Het
Ift27	A	G	15: 78,049,436 (GRCm39)	V88A	possibly damaging	Het
Knop1	C	T	7: 118,452,273 (GRCm39)	A149T	probably damaging	Het
Macf1	T	A	4: 123,404,770 (GRCm39)	K597I	probably damaging	Het
Med16	A	T	10: 79,738,934 (GRCm39)	I284N	possibly damaging	Het
Melk	T	A	4: 44,308,937 (GRCm39)	I98K	probably damaging	Het
Mst1	G	T	9: 107,958,849 (GRCm39)	G127V	probably benign	Het
Nacad	A	G	11: 6,552,217 (GRCm39)	S325P	probably damaging	Het
Nbea	G	A	3: 55,910,211 (GRCm39)	P1328L	probably benign	Het
Nek5	C	T	8: 22,586,806 (GRCm39)	S335N	probably benign	Het
Nif3l1	C	A	1: 58,486,885 (GRCm39)	R24S	probably benign	Het
Nlrp14	T	G	7: 106,789,329 (GRCm39)	N39K	possibly damaging	Het
Nup50	T	A	15: 84,823,928 (GRCm39)	V427D	probably damaging	Het
Nwd1	C	T	8: 73,383,714 (GRCm39)	P78L	probably damaging	Het
Or5an9	T	A	19: 12,187,114 (GRCm39)	Y61*	probably null	Het
Pate8	G	A	9: 36,492,620 (GRCm39)	S95L	probably benign	Het
Pnkd	A	G	1: 74,388,550 (GRCm39)	Y242C	probably benign	Het
Ppm1g	T	C	5: 31,360,465 (GRCm39)	D423G	probably benign	Het
Pramel32	T	A	4: 88,547,071 (GRCm39)	Q116L	probably damaging	Het
Prkci	A	T	3: 31,097,941 (GRCm39)	N464Y	probably damaging	Het
Ptprf	C	T	4: 118,093,161 (GRCm39)	V494M	possibly damaging	Het
Rapgef4	T	G	2: 71,885,370 (GRCm39)		probably null	Het
Rbak	T	C	5: 143,160,099 (GRCm39)	E318G	probably damaging	Het
Rora	A	G	9: 69,271,667 (GRCm39)	D215G	probably benign	Het
Rp1l1	C	T	14: 64,266,496 (GRCm39)	T694I	possibly damaging	Het
Scrib	A	G	15: 75,929,771 (GRCm39)	L1032P	probably damaging	Het
Sectm1b	G	A	11: 120,946,652 (GRCm39)	T81M	probably benign	Het
Sgk3	T	C	1: 9,942,518 (GRCm39)	F97L	possibly damaging	Het
Socs3	A	T	11: 117,858,394 (GRCm39)	Y221*	probably null	Het
Spata31d1e	A	T	13: 59,890,717 (GRCm39)	S368T	probably damaging	Het
Tdrd6	T	A	17: 43,938,498 (GRCm39)	H850L	probably benign	Het
Tex44	G	T	1: 86,354,908 (GRCm39)	Q272H	probably damaging	Het
Tmem39b	T	C	4: 129,570,456 (GRCm39)	Y461C	probably damaging	Het
Ttn	T	A	2: 76,555,337 (GRCm39)	D30556V	probably damaging	Het
Tubgcp5	T	A	7: 55,475,455 (GRCm39)		probably null	Het
Vmn2r70	T	C	7: 85,208,375 (GRCm39)	I701V	probably benign	Het
Vps39	A	T	2: 120,154,129 (GRCm39)	L622Q	probably damaging	Het
Wdfy4	T	A	14: 32,822,923 (GRCm39)	H1347L	probably benign	Het
Xpo1	A	G	11: 23,234,863 (GRCm39)	I540V	probably benign	Het
Xylt2	A	C	11: 94,560,393 (GRCm39)	M294R	probably benign	Het
Zfp788	T	G	7: 41,298,499 (GRCm39)	Y326*	probably null	Het
Zim1	A	G	7: 6,685,124 (GRCm39)	F109L	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
R0617:Tgfbr2	UTSW	9	115,987,388 (GRCm39)	missense	probably benign	0.00
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'- acacatacacacacacCCCTCTCTAAATGAA -3'
(R):5'- GAATACACCACCAGCAGTCCCGACC -3'

Sequencing Primer
(F):5'- GCATGAAGTCTGAGGACAGA -3'
(R):5'- CCTCAGAGCAGTTTGAGACC -3'

Posted On

2014-03-28