Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Tgfb2'

399296

Institutional Source

Beutler Lab

Gene Symbol

Tgfb2

Ensembl Gene

ENSMUSG00000039239

Gene Name

transforming growth factor, beta 2

Synonyms

Tgfb-2, Tgf-beta2

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

186354989-186438186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 186436680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 98 (Y98H)

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: Y98H

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

SMART Domains

Protein: ENSMUSP00000043849
Gene: ENSMUSG00000039239
AA Change: Y98H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193640

Predicted Effect

probably damaging
Transcript: ENSMUST00000195201
AA Change: Y98H

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

SMART Domains

Protein: ENSMUSP00000142149
Gene: ENSMUSG00000039239
AA Change: Y98H

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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
Abhd8	G	T	8: 71,911,042 (GRCm39)	C296*	probably null	Het
Adam11	T	A	11: 102,665,098 (GRCm39)	Y413*	probably null	Het
Ankhd1	A	G	18: 36,789,768 (GRCm39)	I907V	probably benign	Het
Arrdc5	A	G	17: 56,604,897 (GRCm39)	I130T	probably benign	Het
Asic5	T	A	3: 81,928,294 (GRCm39)	I419K	probably damaging	Het
Atp4a	A	T	7: 30,414,955 (GRCm39)	E248V	probably damaging	Het
Avil	C	A	10: 126,847,630 (GRCm39)	V154L	probably benign	Het
Bclaf1	T	A	10: 20,199,282 (GRCm39)	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,723,351 (GRCm39)		probably benign	Het
Cd200r4	A	C	16: 44,652,453 (GRCm39)	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,863,099 (GRCm39)	M1K	probably null	Het
Cfap46	T	A	7: 139,258,430 (GRCm39)	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,369,606 (GRCm39)	F533L	probably benign	Het
Chil4	T	A	3: 106,126,768 (GRCm39)	I5F	probably benign	Het
Ctu2	A	T	8: 123,203,327 (GRCm39)	R48W	probably damaging	Het
Daam1	A	T	12: 71,993,350 (GRCm39)	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415 (GRCm39)	Y328N	possibly damaging	Het
Dst	A	T	1: 34,217,012 (GRCm39)	K1151*	probably null	Het
Ect2	T	C	3: 27,184,219 (GRCm39)	D503G	probably damaging	Het
Epm2a	C	A	10: 11,333,089 (GRCm39)	D307E	probably benign	Het
Exph5	A	T	9: 53,249,230 (GRCm39)	D73V	probably damaging	Het
Fam20b	C	T	1: 156,533,310 (GRCm39)	G102D	probably damaging	Het
Fat2	T	C	11: 55,172,001 (GRCm39)	N2904S	probably damaging	Het
Flt3	T	A	5: 147,312,500 (GRCm39)	Q147L	possibly damaging	Het
Fndc11	A	G	2: 180,863,956 (GRCm39)	T254A	possibly damaging	Het
Galnt15	C	T	14: 31,780,244 (GRCm39)	R514*	probably null	Het
Gbgt1	A	G	2: 28,395,220 (GRCm39)	D286G	probably damaging	Het
Ggt1	T	A	10: 75,415,032 (GRCm39)		probably null	Het
Gm26526	A	T	7: 39,238,658 (GRCm39)		noncoding transcript	Het
H2-K2	T	C	17: 34,216,436 (GRCm39)	T237A	probably damaging	Het
Igf1r	T	A	7: 67,857,067 (GRCm39)	S1010T	probably damaging	Het
Il21	T	C	3: 37,281,884 (GRCm39)	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,268,600 (GRCm39)	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,519,592 (GRCm39)	P2173S	probably benign	Het
Krt1	A	T	15: 101,754,803 (GRCm39)	S512T	unknown	Het
Krtap16-1	G	A	11: 99,876,424 (GRCm39)	R327*	probably null	Het
Lama1	T	A	17: 68,063,711 (GRCm39)	I745N	probably benign	Het
Lrrk1	T	A	7: 65,956,855 (GRCm39)	N372I	probably benign	Het
Lyst	A	T	13: 13,857,655 (GRCm39)	E2481D	probably benign	Het
Map2k1	A	T	9: 64,095,027 (GRCm39)		probably benign	Het
Mbip	A	G	12: 56,384,228 (GRCm39)	V215A	probably damaging	Het
Mdc1	T	A	17: 36,158,814 (GRCm39)	V398D	probably benign	Het
Mog	T	G	17: 37,323,264 (GRCm39)	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 46,959,184 (GRCm39)		noncoding transcript	Het
Muc5b	C	T	7: 141,418,277 (GRCm39)	S3741L	probably benign	Het
Myo5a	A	T	9: 75,037,402 (GRCm39)	I202F	probably damaging	Het
Myo5b	A	T	18: 74,833,677 (GRCm39)	I818F	possibly damaging	Het
Nfia	T	A	4: 97,902,534 (GRCm39)	M262K	probably damaging	Het
Nisch	C	T	14: 30,928,524 (GRCm39)		probably null	Het
Nkd1	A	G	8: 89,315,822 (GRCm39)	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,881,999 (GRCm39)	K284*	probably null	Het
Or14a259	A	T	7: 86,013,398 (GRCm39)	V49E	possibly damaging	Het
Or4k15b	C	A	14: 50,272,135 (GRCm39)	A242S	possibly damaging	Het
Or4l1	A	T	14: 50,166,236 (GRCm39)	I255N	probably damaging	Het
Or52z14	T	G	7: 103,252,996 (GRCm39)	I45R	probably benign	Het
Or5an1c	A	G	19: 12,218,612 (GRCm39)	S138P	probably damaging	Het
Or5j3	A	T	2: 86,128,265 (GRCm39)	Y35F	probably damaging	Het
Or8g55	A	T	9: 39,784,741 (GRCm39)	T57S	possibly damaging	Het
Or8k24	A	T	2: 86,216,484 (GRCm39)	S93T	possibly damaging	Het
Pcdhb17	A	T	18: 37,619,878 (GRCm39)	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,859,673 (GRCm39)	D243V	probably benign	Het
Polq	A	T	16: 36,909,681 (GRCm39)	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,018,572 (GRCm39)	Y506*	probably null	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Tarbp1	G	A	8: 127,193,895 (GRCm39)	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,517,559 (GRCm39)	F13V	probably benign	Het
Tmprss11a	C	A	5: 86,559,665 (GRCm39)	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,685,892 (GRCm39)	K158N	probably benign	Het
Tnip2	G	T	5: 34,660,922 (GRCm39)	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075 (GRCm39)		probably null	Het
Ttc28	C	T	5: 111,419,104 (GRCm39)	P1398S	probably benign	Het
Umodl1	T	G	17: 31,199,333 (GRCm39)	I308S	possibly damaging	Het
Vcan	A	T	13: 89,839,719 (GRCm39)	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,283,339 (GRCm39)	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,802,277 (GRCm39)	C542S	probably damaging	Het
Wiz	T	A	17: 32,597,470 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,239,803 (GRCm39)	Y343C	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
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
R8884:Tgfb2	UTSW	1	186,364,907 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATCCCACGACTGGAAAG -3'
(R):5'- TTTATGCGCAAGAGGATCGAGG -3'

Sequencing Primer
(F):5'- ACGAAGCGATCAGGACCCG -3'
(R):5'- CAAGAGGATCGAGGCCATCC -3'

Posted On

2016-07-06