Mutagenetix > Incidental Mutation

Incidental Mutation 'R4945:Tgfbr2'

381315

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

042542-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4945 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

115916763-116004431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115960633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 106 (H106Q)

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: H81Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035014
Gene: ENSMUSG00000032440
AA Change: H81Q

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: H106Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062333
Gene: ENSMUSG00000032440
AA Change: H106Q

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,876,622 (GRCm39)	R512H	probably damaging	Het
Adgrl2	T	A	3: 148,528,672 (GRCm39)	M1158L	probably damaging	Het
Adgrl3	C	A	5: 81,659,895 (GRCm39)	H153Q	probably damaging	Het
Aldh1a2	C	A	9: 71,123,198 (GRCm39)	Q24K	probably benign	Het
Atp1b1	A	G	1: 164,265,867 (GRCm39)	V298A	probably damaging	Het
Casp8ap2	T	A	4: 32,631,163 (GRCm39)	N74K	possibly damaging	Het
Cep135	A	G	5: 76,745,275 (GRCm39)	D229G	probably benign	Het
Cerk	C	G	15: 86,040,802 (GRCm39)	D186H	probably benign	Het
Cmtr2	T	C	8: 110,948,065 (GRCm39)	F125S	probably damaging	Het
Col6a1	A	G	10: 76,548,106 (GRCm39)	V650A	unknown	Het
Cuzd1	A	G	7: 130,918,350 (GRCm39)	F196L	probably damaging	Het
Esm1	T	G	13: 113,346,679 (GRCm39)		probably null	Het
Fbn2	T	A	18: 58,183,325 (GRCm39)	I1787F	possibly damaging	Het
Gm1110	T	C	9: 26,831,891 (GRCm39)	M87V	possibly damaging	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
Grk2	A	G	19: 4,340,475 (GRCm39)	I302T	probably damaging	Het
Hoxb6	A	G	11: 96,190,085 (GRCm39)	Y28C	possibly damaging	Het
Ift27	A	G	15: 78,048,454 (GRCm39)	V110A	probably damaging	Het
Igfbp7	T	C	5: 77,499,104 (GRCm39)	D267G	probably benign	Het
Ighv1-49	C	A	12: 115,019,028 (GRCm39)	V56L	possibly damaging	Het
Ighv8-8	C	T	12: 115,257,881 (GRCm39)	M53I	probably benign	Het
Kcnj3	T	A	2: 55,327,590 (GRCm39)	N126K	probably damaging	Het
Kif12	C	T	4: 63,086,730 (GRCm39)		probably null	Het
Lrif1	A	C	3: 106,643,069 (GRCm39)	I725L	probably damaging	Het
Lrrk2	T	C	15: 91,689,123 (GRCm39)	V2265A	probably benign	Het
Med25	T	C	7: 44,532,526 (GRCm39)	N438S	possibly damaging	Het
Mex3b	A	T	7: 82,519,382 (GRCm39)	T566S	probably benign	Het
Mkx	T	C	18: 7,000,657 (GRCm39)	N95S	possibly damaging	Het
Morc3	A	T	16: 93,668,082 (GRCm39)	D820V	probably damaging	Het
Mroh4	G	T	15: 74,483,857 (GRCm39)	N562K	probably benign	Het
Ndst3	A	T	3: 123,346,201 (GRCm39)	I276N	probably damaging	Het
Notch2	A	G	3: 98,019,037 (GRCm39)	N733S	probably benign	Het
Or10a5	A	T	7: 106,635,526 (GRCm39)	M55L	probably benign	Het
Or2l13b	C	A	16: 19,349,307 (GRCm39)	R121L	probably benign	Het
Or51k1	G	A	7: 103,661,585 (GRCm39)	T108I	possibly damaging	Het
Or5ak24	T	C	2: 85,260,895 (GRCm39)	T93A	probably benign	Het
Or5m13	T	A	2: 85,748,917 (GRCm39)	I216N	possibly damaging	Het
Or8b38	G	T	9: 37,973,068 (GRCm39)	G151C	probably damaging	Het
Or8b44	A	T	9: 38,410,585 (GRCm39)	I207F	probably damaging	Het
Or8k37	T	C	2: 86,469,833 (GRCm39)	Y73C	probably damaging	Het
Patj	A	T	4: 98,383,301 (GRCm39)	N268Y	probably damaging	Het
Pbrm1	T	A	14: 30,774,173 (GRCm39)	D446E	probably damaging	Het
Pcdhga11	A	G	18: 37,891,085 (GRCm39)	T698A	probably benign	Het
Pde6a	T	C	18: 61,367,790 (GRCm39)	V266A	probably damaging	Het
Phax	G	T	18: 56,709,063 (GRCm39)	R209L	probably damaging	Het
Pld2	T	A	11: 70,446,524 (GRCm39)	M20K	probably damaging	Het
Rabl3	T	C	16: 37,362,220 (GRCm39)	S20P	probably damaging	Het
Rad51	T	A	2: 118,957,629 (GRCm39)	V174E	probably damaging	Het
Rb1cc1	A	G	1: 6,319,851 (GRCm39)	E1090G	probably benign	Het
Rfc3	T	C	5: 151,566,450 (GRCm39)	E333G	probably damaging	Het
Rfx6	T	G	10: 51,602,947 (GRCm39)	Y821*	probably null	Het
Riok3	A	G	18: 12,261,972 (GRCm39)	D2G	probably damaging	Het
Rtn1	G	T	12: 72,264,258 (GRCm39)	A183E	probably damaging	Het
Skint8	T	C	4: 111,796,805 (GRCm39)	L303P	probably damaging	Het
Slc36a2	C	A	11: 55,065,520 (GRCm39)	V162L	probably benign	Het
Sorcs3	T	C	19: 48,752,587 (GRCm39)	V794A	possibly damaging	Het
Sspo	A	G	6: 48,444,021 (GRCm39)		probably null	Het
Tbk1	T	C	10: 121,387,174 (GRCm39)	N707S	probably damaging	Het
Tchhl1	A	T	3: 93,378,883 (GRCm39)	H529L	probably benign	Het
Trim8	A	G	19: 46,491,214 (GRCm39)	E111G	probably benign	Het
Tshz2	A	G	2: 169,725,794 (GRCm39)	Y130C	probably damaging	Het
Txndc15	T	A	13: 55,865,978 (GRCm39)	D147E	probably benign	Het
Vmn1r172	T	A	7: 23,359,745 (GRCm39)	L210H	possibly damaging	Het
Vmn1r55	A	G	7: 5,150,105 (GRCm39)	V106A	probably damaging	Het
Vmn2r49	T	A	7: 9,720,214 (GRCm39)	K426*	probably null	Het
Wnk2	C	T	13: 49,210,722 (GRCm39)	R206Q	probably damaging	Het
Zfp1007	A	T	5: 109,824,941 (GRCm39)	C170S	possibly damaging	Het
Zfp473	T	C	7: 44,383,988 (GRCm39)	N115S	probably benign	Het
Zfp536	G	T	7: 37,269,161 (GRCm39)	A85D	probably damaging	Het
Zfp853	C	A	5: 143,274,584 (GRCm39)	Q345H	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
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'- GTATGTGATACACGGGACTGTG -3'
(R):5'- TTCTAGCACGGGATCCCATG -3'

Sequencing Primer
(F):5'- GGGACTGTGAGCCACATCTTTTC -3'
(R):5'- ATCCCATGGAGTAACCTCTGG -3'

Posted On

2016-04-27