Mutagenetix > Incidental Mutation

Incidental Mutation 'R7098:Tgfb2'

550608

Institutional Source

Beutler Lab

Gene Symbol

Tgfb2

Ensembl Gene

ENSMUSG00000039239

Gene Name

transforming growth factor, beta 2

Synonyms

Tgfb-2, Tgf-beta2

MMRRC Submission

045190-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

186354989-186438186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 186362834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 330 (R330H)

Ref Sequence

ENSEMBL: ENSMUSP00000142149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045288] [ENSMUST00000195201]

AlphaFold

P27090

Predicted Effect

probably damaging
Transcript: ENSMUST00000045288
AA Change: R302H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043849
Gene: ENSMUSG00000039239
AA Change: R302H

Domain	Start	End	E-Value	Type
Pfam:TGFb_propeptide	20	284	1.1e-38	PFAM
TGFB	317	414	1.25e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195201
AA Change: R330H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142149
Gene: ENSMUSG00000039239
AA Change: R330H

Domain	Start	End	E-Value	Type
Pfam:TGFb_propeptide	9	138	2.4e-9	PFAM
Pfam:TGFb_propeptide	152	311	1.4e-23	PFAM
TGFB	345	442	6.1e-40	SMART

Meta Mutation Damage Score

0.3438

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Mice lacking a functional copy of this gene display developmental defects in multiple organs and perinatal lethality. Heterozygous mutant mice exhibit aortic root aneurysm. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the heart, lungs, skull, limbs, spinal column, eyes, inner ears, and urogenital system, and perinatal mortality. Heterozygotes show abnormalities of the Cowpers' gland and intestinal mucosa. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,644,784 (GRCm39)	M223K	probably benign	Het
Abce1	T	C	8: 80,412,678 (GRCm39)	T550A	probably benign	Het
Acoxl	C	T	2: 127,696,835 (GRCm39)	Q28*	probably null	Het
Adam8	T	C	7: 139,559,412 (GRCm39)	K820R	possibly damaging	Het
Adamts3	G	T	5: 90,009,354 (GRCm39)	A103D	probably damaging	Het
Apba2	T	A	7: 64,386,696 (GRCm39)	V441D	probably damaging	Het
Arap2	A	G	5: 62,833,293 (GRCm39)		probably null	Het
Arhgef10l	T	A	4: 140,308,222 (GRCm39)	M44L	probably benign	Het
Asb4	T	C	6: 5,398,499 (GRCm39)	C155R	probably damaging	Het
Bpifb6	A	T	2: 153,748,810 (GRCm39)	K269*	probably null	Het
Cc2d2a	A	T	5: 43,840,481 (GRCm39)	T161S	probably benign	Het
Ccdc15	T	A	9: 37,255,256 (GRCm39)	Q98L	probably damaging	Het
Col19a1	A	G	1: 24,565,555 (GRCm39)	S259P	unknown	Het
Col5a2	A	T	1: 45,419,227 (GRCm39)	D1284E	possibly damaging	Het
Cyp2c70	T	C	19: 40,168,931 (GRCm39)	T119A	probably benign	Het
Dennd6b	C	T	15: 89,072,890 (GRCm39)	C188Y	probably damaging	Het
Dhx8	T	A	11: 101,628,594 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,340,768 (GRCm39)	K624R	probably benign	Het
Dpys	C	T	15: 39,656,727 (GRCm39)	V447M	probably damaging	Het
E130308A19Rik	T	C	4: 59,753,004 (GRCm39)	S706P	possibly damaging	Het
Esrrb	A	G	12: 86,517,189 (GRCm39)	D107G	probably benign	Het
Frmd4a	T	C	2: 4,577,244 (GRCm39)	S367P	probably damaging	Het
Garin2	G	A	12: 78,766,408 (GRCm39)		probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm136	T	C	4: 34,746,628 (GRCm39)	I128V	probably benign	Het
Gm6525	T	A	3: 84,082,309 (GRCm39)	C77S	possibly damaging	Het
Grid2ip	T	C	5: 143,343,346 (GRCm39)	F14S	probably damaging	Het
Hdhd3	C	T	4: 62,418,152 (GRCm39)	R8H	probably damaging	Het
Kdelr1	C	A	7: 45,523,480 (GRCm39)	A69D	possibly damaging	Het
Krtap16-3	T	A	16: 88,759,560 (GRCm39)	Y51F	unknown	Het
Lrrc40	T	A	3: 157,747,276 (GRCm39)	N129K	probably benign	Het
Man1b1	T	A	2: 25,228,196 (GRCm39)	D155E	probably damaging	Het
Mcm5	T	C	8: 75,847,529 (GRCm39)	V442A	probably damaging	Het
Mfsd14a	C	T	3: 116,435,361 (GRCm39)	A235T	probably benign	Het
Mmp1a	C	A	9: 7,475,938 (GRCm39)	T401K	probably benign	Het
Mpig6b	C	T	17: 35,283,320 (GRCm39)	R196Q	unknown	Het
Mroh1	C	T	15: 76,292,657 (GRCm39)	Q262*	probably null	Het
Msh3	A	T	13: 92,410,619 (GRCm39)	D656E	possibly damaging	Het
Muc4	A	T	16: 32,577,465 (GRCm39)	T252S		Het
Myh15	C	T	16: 48,997,420 (GRCm39)	A1746V	possibly damaging	Het
Myh8	C	A	11: 67,169,879 (GRCm39)	T66K	probably benign	Het
Nemf	A	T	12: 69,359,241 (GRCm39)	Y999N	probably damaging	Het
Neurod1	T	C	2: 79,285,029 (GRCm39)	N118S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,100 (GRCm39)	I134L	possibly damaging	Het
Nsun7	A	T	5: 66,418,326 (GRCm39)	I19F	probably damaging	Het
Ofcc1	A	G	13: 40,157,442 (GRCm39)		probably null	Het
P2rx7	A	G	5: 122,811,856 (GRCm39)	E389G	probably damaging	Het
Pam	C	T	1: 97,826,072 (GRCm39)	R194H	probably benign	Het
Pcnt	A	G	10: 76,220,673 (GRCm39)	S2052P	probably benign	Het
Pfkfb4	T	A	9: 108,828,222 (GRCm39)	Y86N	probably benign	Het
Plcd3	T	A	11: 102,968,689 (GRCm39)	D334V	probably damaging	Het
Ppard	T	C	17: 28,517,787 (GRCm39)	V285A	possibly damaging	Het
Prune2	A	G	19: 17,097,966 (GRCm39)	S1157G	probably benign	Het
Psg21	A	T	7: 18,386,470 (GRCm39)	L172H	probably damaging	Het
Psme4	C	A	11: 30,800,661 (GRCm39)	T1417K	probably damaging	Het
Ptprc	T	C	1: 138,027,423 (GRCm39)	D336G	probably benign	Het
Ralgapa1	A	T	12: 55,837,095 (GRCm39)		probably null	Het
Rap1gap	C	A	4: 137,443,393 (GRCm39)		probably null	Het
Scap	T	C	9: 110,201,310 (GRCm39)	S100P	possibly damaging	Het
Scpep1	T	C	11: 88,820,011 (GRCm39)	I426V	possibly damaging	Het
Sdk1	T	C	5: 142,082,625 (GRCm39)	I1341T	probably damaging	Het
Sfmbt2	T	A	2: 10,584,000 (GRCm39)	Y786N	probably benign	Het
Sh3tc1	A	T	5: 35,859,358 (GRCm39)		probably null	Het
Slc5a5	T	A	8: 71,341,182 (GRCm39)	I386F	probably damaging	Het
Smarca4	T	G	9: 21,546,116 (GRCm39)	M98R	probably benign	Het
St18	G	A	1: 6,898,066 (GRCm39)	D623N	probably damaging	Het
Sult2a1	A	T	7: 13,549,978 (GRCm39)		probably null	Het
Thoc3	A	G	13: 54,614,119 (GRCm39)	I168T	probably damaging	Het
Tmem126a	C	T	7: 90,100,062 (GRCm39)	M160I	possibly damaging	Het
Tmem200b	C	T	4: 131,649,704 (GRCm39)	P208L	probably benign	Het
Tnrc6c	T	C	11: 117,604,952 (GRCm39)	V29A	probably benign	Het
Tsc1	C	T	2: 28,565,744 (GRCm39)	S465F	probably benign	Het
Ttll5	A	G	12: 85,964,447 (GRCm39)		probably null	Het
Unc13d	G	T	11: 115,954,552 (GRCm39)	L1019I	probably damaging	Het
Vmn2r102	A	T	17: 19,914,670 (GRCm39)	H745L	probably damaging	Het
Wars2	T	G	3: 99,123,957 (GRCm39)	S273A	probably damaging	Het
Xrcc6	C	A	15: 81,919,955 (GRCm39)	S498*	probably null	Het
Ybx1	A	T	4: 119,140,050 (GRCm39)	N92K	possibly damaging	Het

Other mutations in Tgfb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Tgfb2	APN	1	186,436,784 (GRCm39)	missense	probably benign	0.39
IGL01304:Tgfb2	APN	1	186,357,670 (GRCm39)	missense	probably damaging	0.99
IGL03028:Tgfb2	APN	1	186,362,806 (GRCm39)	critical splice donor site	probably null
PIT4486001:Tgfb2	UTSW	1	186,422,924 (GRCm39)	missense	probably benign	0.04
R2017:Tgfb2	UTSW	1	186,362,962 (GRCm39)	nonsense	probably null
R2880:Tgfb2	UTSW	1	186,436,752 (GRCm39)	missense	probably damaging	1.00
R4182:Tgfb2	UTSW	1	186,361,222 (GRCm39)	missense	possibly damaging	0.95
R4292:Tgfb2	UTSW	1	186,364,735 (GRCm39)	missense	probably damaging	1.00
R4478:Tgfb2	UTSW	1	186,364,696 (GRCm39)	missense	probably damaging	1.00
R4801:Tgfb2	UTSW	1	186,361,110 (GRCm39)	nonsense	probably null
R4802:Tgfb2	UTSW	1	186,361,110 (GRCm39)	nonsense	probably null
R5247:Tgfb2	UTSW	1	186,382,111 (GRCm39)	splice site	probably null
R5254:Tgfb2	UTSW	1	186,436,680 (GRCm39)	missense	probably damaging	1.00
R5614:Tgfb2	UTSW	1	186,357,710 (GRCm39)	missense	probably benign	0.21
R5988:Tgfb2	UTSW	1	186,436,778 (GRCm39)	missense	probably benign	0.05
R6898:Tgfb2	UTSW	1	186,364,697 (GRCm39)	missense	probably damaging	1.00
R6961:Tgfb2	UTSW	1	186,382,032 (GRCm39)	missense	possibly damaging	0.67
R7346:Tgfb2	UTSW	1	186,382,077 (GRCm39)	missense	probably benign	0.00
R7729:Tgfb2	UTSW	1	186,362,954 (GRCm39)	missense	possibly damaging	0.94
R8167:Tgfb2	UTSW	1	186,422,942 (GRCm39)	missense	possibly damaging	0.94
R8825:Tgfb2	UTSW	1	186,361,136 (GRCm39)	missense	probably damaging	1.00
R8884:Tgfb2	UTSW	1	186,364,907 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCTTACAAGAGCCAAAAGC -3'
(R):5'- GCCGTTTGTGACCATATACAGG -3'

Sequencing Primer
(F):5'- AAGCTCGACCGTCCTCTAC -3'
(R):5'- TGTGACCATATACAGGGGTGG -3'

Posted On

2019-05-15