Mutagenetix > Incidental Mutation

Incidental Mutation 'R8884:Tgfb2'

677145

Institutional Source

Beutler Lab

Gene Symbol

Tgfb2

Ensembl Gene

ENSMUSG00000039239

Gene Name

transforming growth factor, beta 2

Synonyms

Tgfb-2, Tgf-beta2

MMRRC Submission

068690-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

186354989-186438186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 186364907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 232 (T232I)

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: T204I

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

SMART Domains

Protein: ENSMUSP00000043849
Gene: ENSMUSG00000039239
AA Change: T204I

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: T232I

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

SMART Domains

Protein: ENSMUSP00000142149
Gene: ENSMUSG00000039239
AA Change: T232I

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

0.9405

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,354 (GRCm39)	F168Y	probably damaging	Het
4932438H23Rik	T	C	16: 90,852,737 (GRCm39)	Y133C	probably damaging	Het
Aasdh	A	G	5: 77,039,641 (GRCm39)	S223P	possibly damaging	Het
Abca8a	T	C	11: 109,964,941 (GRCm39)	D453G	possibly damaging	Het
Acsl6	T	A	11: 54,236,728 (GRCm39)	F541I	probably damaging	Het
Agfg1	A	T	1: 82,860,110 (GRCm39)	K326*	probably null	Het
Aldh1l2	T	C	10: 83,344,541 (GRCm39)	N448S	probably benign	Het
Alx4	A	G	2: 93,473,355 (GRCm39)	K118E	possibly damaging	Het
Atp9b	T	A	18: 80,838,562 (GRCm39)	T451S		Het
B4galt6	A	T	18: 20,822,072 (GRCm39)	N307K	probably benign	Het
Cacna1s	G	A	1: 136,042,981 (GRCm39)	M1569I	probably benign	Het
Cacng6	C	T	7: 3,478,984 (GRCm39)	T121I	probably damaging	Het
Cdc5l	C	A	17: 45,744,467 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,027,860 (GRCm39)	D535V	probably damaging	Het
Chrnb3	T	C	8: 27,883,946 (GRCm39)	F228L	possibly damaging	Het
Clca3a1	A	T	3: 144,719,757 (GRCm39)	D404E	probably benign	Het
Commd8	G	A	5: 72,325,514 (GRCm39)		probably benign	Het
Cpn1	T	A	19: 43,954,615 (GRCm39)	Q337L	possibly damaging	Het
Dctn6	T	C	8: 34,557,933 (GRCm39)	T180A	probably benign	Het
Ddx60	A	G	8: 62,447,553 (GRCm39)	E1180G	possibly damaging	Het
Dock4	T	A	12: 40,856,884 (GRCm39)	L1239Q	probably damaging	Het
Dop1b	T	C	16: 93,556,550 (GRCm39)	I469T	probably benign	Het
Enpep	A	T	3: 129,115,052 (GRCm39)	I240N	possibly damaging	Het
Fat3	G	A	9: 15,941,280 (GRCm39)	T1337I	probably damaging	Het
Fbxw13	T	A	9: 109,010,469 (GRCm39)	M390L	probably benign	Het
Fgr	C	T	4: 132,713,609 (GRCm39)	P46S	probably benign	Het
Galnt1	T	A	18: 24,400,641 (GRCm39)	M249K	probably benign	Het
Gm40460	A	T	7: 141,794,555 (GRCm39)	C87*	probably null	Het
Hcn4	C	T	9: 58,760,705 (GRCm39)	R417C	unknown	Het
Insr	T	C	8: 3,205,679 (GRCm39)	N1370S	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,414,089 (GRCm39)	E722K		Het
Larp6	G	A	9: 60,620,682 (GRCm39)	G65E		Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Muc16	G	A	9: 18,555,496 (GRCm39)	T3599I	unknown	Het
Muc5b	T	C	7: 141,403,156 (GRCm39)	F706L	unknown	Het
Nbea	A	T	3: 55,712,720 (GRCm39)	M2119K	probably benign	Het
Or13a18	C	T	7: 140,190,616 (GRCm39)	P171L	probably damaging	Het
Or13a24	A	T	7: 140,154,224 (GRCm39)	T53S	probably benign	Het
Paip1	G	A	13: 119,574,553 (GRCm39)	V83I	probably damaging	Het
Pdcd1lg2	G	T	19: 29,423,318 (GRCm39)		probably null	Het
Pde7a	G	A	3: 19,281,858 (GRCm39)	A464V	probably benign	Het
Pfkfb2	A	G	1: 130,634,213 (GRCm39)	F155L	probably damaging	Het
Pimreg	A	G	11: 71,936,513 (GRCm39)	D192G	possibly damaging	Het
Prkd3	T	C	17: 79,282,193 (GRCm39)	D320G	probably damaging	Het
Rgs7	A	G	1: 174,980,730 (GRCm39)	V98A	probably benign	Het
Ric3	C	T	7: 108,637,688 (GRCm39)	G356D	probably benign	Het
Rsph4a	T	C	10: 33,781,840 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sez6l	T	C	5: 112,622,910 (GRCm39)	T214A	probably damaging	Het
Sipa1l1	T	G	12: 82,409,871 (GRCm39)	V595G	probably damaging	Het
Spata31h1	T	A	10: 82,119,486 (GRCm39)	H4508L	probably damaging	Het
Spta1	G	T	1: 174,045,254 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,836,989 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,181,822 (GRCm39)	Q4171P	possibly damaging	Het
Tmem175	A	G	5: 108,794,327 (GRCm39)	S486G	probably benign	Het
Tmprss15	A	G	16: 78,821,657 (GRCm39)	V466A	probably benign	Het
Treh	C	G	9: 44,595,800 (GRCm39)		probably benign	Het
Ttc14	A	G	3: 33,854,696 (GRCm39)	S8G	unknown	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Vmn1r44	T	C	6: 89,870,458 (GRCm39)	L68P	probably damaging	Het
Vmn2r37	T	G	7: 9,218,916 (GRCm39)	L489F	probably benign	Het
Vmn2r52	T	A	7: 9,892,734 (GRCm39)	T802S	probably damaging	Het
Wsb2	T	A	5: 117,508,769 (GRCm39)	F68I	probably benign	Het
Zbtb8os	T	C	4: 129,236,924 (GRCm39)	V113A	probably benign	Het
Zfp354a	A	T	11: 50,950,805 (GRCm39)		probably benign	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
R7098:Tgfb2	UTSW	1	186,362,834 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GGGGCAGTGTAAACTTATTTTAAACCC -3'
(R):5'- ATGACAGTGCACGAGTCCAG -3'

Sequencing Primer
(F):5'- AAACCCCAGGTTCCTGTCTGG -3'
(R):5'- TCAGAGCCCAGTATCGATAATG -3'

Posted On

2021-08-02