Mutagenetix > Incidental Mutation

Incidental Mutation 'R2327:Tgfbr1'

245677

Institutional Source

Beutler Lab

Gene Symbol

Tgfbr1

Ensembl Gene

ENSMUSG00000007613

Gene Name

transforming growth factor, beta receptor I

Synonyms

TbetaR-I, ALK5, Alk-5, TbetaRI

MMRRC Submission

040318-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2327 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47353222-47414926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47402833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 210 (V210E)

Ref Sequence

ENSEMBL: ENSMUSP00000123761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007757] [ENSMUST00000044234] [ENSMUST00000107725] [ENSMUST00000126171]

AlphaFold

Q64729

Predicted Effect

probably damaging
Transcript: ENSMUST00000007757
AA Change: V279E

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

SMART Domains

Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613
AA Change: V279E

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	13	24	N/A	INTRINSIC
Pfam:Activin_recp	30	110	2.7e-16	PFAM
transmembrane domain	126	148	N/A	INTRINSIC
GS	175	205	1.01e-14	SMART
Blast:STYKc	207	492	7e-31	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000044234
AA Change: V275E

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

SMART Domains

Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613
AA Change: V275E

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	13	24	N/A	INTRINSIC
Pfam:Activin_recp	30	110	1.6e-14	PFAM
transmembrane domain	122	144	N/A	INTRINSIC
GS	171	201	1.01e-14	SMART
Blast:STYKc	203	488	8e-31	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000107725
AA Change: V196E

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

SMART Domains

Protein: ENSMUSP00000103353
Gene: ENSMUSG00000007613
AA Change: V196E

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
GS	92	122	1.01e-14	SMART
Blast:STYKc	124	409	3e-31	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000126171
AA Change: V210E

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

SMART Domains

Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613
AA Change: V210E

Domain	Start	End	E-Value	Type
PDB:3KFD\|L	1	45	3e-26	PDB
transmembrane domain	57	79	N/A	INTRINSIC
GS	106	136	1.01e-14	SMART
Blast:STYKc	138	423	3e-31	BLAST

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the transforming growth factor beta (TGF-beta) receptor family of proteins. These proteins comprise one component of the TGF-beta signaling pathway, which transduces extracellular signals into gene expression changes to regulate a wide range of cellular responses, including proliferation, migration, differentiation and apoptosis. Homozygous knockout mice for this gene exhibit impaired angiogenesis and embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for some targeted null mutations exhibit defects of the yolk sac and placenta, lack circulating erythrocytes, and die at midgestation. Mutant endothelial cells show enhanced proliferation, improper migration, and reduced fibronectin production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 64,208,569 (GRCm39)		probably null	Het
Agbl4	T	G	4: 111,383,798 (GRCm39)	S218A	probably benign	Het
Apol11b	T	C	15: 77,522,153 (GRCm39)	E48G	probably damaging	Het
Atp4a	T	A	7: 30,419,666 (GRCm39)	N676K	probably benign	Het
Capn5	T	A	7: 97,775,574 (GRCm39)	S456C	probably benign	Het
Ccar1	T	C	10: 62,600,161 (GRCm39)	Y590C	probably damaging	Het
Ccdc188	G	T	16: 18,037,070 (GRCm39)	G283W	probably damaging	Het
Cd69	A	G	6: 129,248,351 (GRCm39)	V45A	probably damaging	Het
Col3a1	G	T	1: 45,377,771 (GRCm39)		probably benign	Het
Cyb561a3	A	T	19: 10,564,166 (GRCm39)	T169S	probably benign	Het
Cyp2c39	A	T	19: 39,527,397 (GRCm39)	I248L	probably benign	Het
Cyp2j13	T	C	4: 95,947,344 (GRCm39)	T236A	possibly damaging	Het
Efs	A	G	14: 55,154,961 (GRCm39)	V426A	probably benign	Het
Eme2	A	G	17: 25,113,157 (GRCm39)	L136S	probably damaging	Het
Fastkd1	T	A	2: 69,535,872 (GRCm39)	K312*	probably null	Het
Fbxl12	A	G	9: 20,553,530 (GRCm39)	L19P	probably damaging	Het
Flg2	T	A	3: 93,110,913 (GRCm39)	Y980*	probably null	Het
Fscn2	T	A	11: 120,257,527 (GRCm39)	I296N	probably damaging	Het
Gabrg3	A	G	7: 56,384,835 (GRCm39)	V242A	probably benign	Het
Galk2	A	G	2: 125,817,315 (GRCm39)	H368R	probably damaging	Het
Gm12695	C	T	4: 96,657,893 (GRCm39)	S92N	probably benign	Het
Gpalpp1	A	T	14: 76,336,031 (GRCm39)	S196T	probably benign	Het
Gpld1	A	T	13: 25,168,804 (GRCm39)	M773L	probably benign	Het
Haus8	A	G	8: 71,708,289 (GRCm39)		probably null	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Inpp4a	A	G	1: 37,405,247 (GRCm39)	T92A	probably damaging	Het
Irgm2	A	G	11: 58,111,218 (GRCm39)	D303G	probably damaging	Het
Kpna2rt	C	A	17: 90,217,697 (GRCm39)	R16S	probably benign	Het
Krtap5-2	T	G	7: 141,728,748 (GRCm39)	S311R	unknown	Het
Krtdap	T	A	7: 30,489,185 (GRCm39)		probably null	Het
Lce1g	G	T	3: 92,658,140 (GRCm39)	S56Y	unknown	Het
Lrrn1	G	A	6: 107,545,794 (GRCm39)	V531I	probably benign	Het
Mctp2	T	C	7: 71,861,358 (GRCm39)	E429G	probably damaging	Het
Mrgpra2b	T	G	7: 47,113,793 (GRCm39)	D287A	probably damaging	Het
Mterf3	T	C	13: 67,076,258 (GRCm39)	T150A	probably damaging	Het
Mtus2	A	G	5: 148,014,725 (GRCm39)	N506S	probably benign	Het
Myh15	G	T	16: 48,963,313 (GRCm39)	V1085L	probably benign	Het
Myo9a	A	G	9: 59,687,048 (GRCm39)	N51S	probably benign	Het
Nlrc3	A	T	16: 3,771,304 (GRCm39)	L196Q	probably damaging	Het
Nlrp9c	T	A	7: 26,074,747 (GRCm39)	N816I	probably damaging	Het
Nsun2	T	C	13: 69,767,700 (GRCm39)	V218A	probably benign	Het
Nt5dc1	T	C	10: 34,189,673 (GRCm39)	E339G	possibly damaging	Het
Or10ak14	C	T	4: 118,611,331 (GRCm39)	V135I	probably benign	Het
Or51b6b	A	G	7: 103,309,779 (GRCm39)	V226A	probably damaging	Het
Or8j3c	A	T	2: 86,253,165 (GRCm39)	L285*	probably null	Het
Pik3ap1	A	G	19: 41,284,828 (GRCm39)	I619T	probably damaging	Het
Plk1	A	G	7: 121,759,118 (GRCm39)	D118G	probably benign	Het
Ppat	T	C	5: 77,070,314 (GRCm39)	D168G	possibly damaging	Het
Preb	T	C	5: 31,115,849 (GRCm39)	E198G	probably damaging	Het
Psg21	T	C	7: 18,386,378 (GRCm39)	T203A	possibly damaging	Het
Rbm17	A	G	2: 11,602,942 (GRCm39)	V54A	probably damaging	Het
Rgma	T	A	7: 73,067,574 (GRCm39)	D276E	probably damaging	Het
Ric8a	T	C	7: 140,439,471 (GRCm39)	L77P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scarf1	A	C	11: 75,416,854 (GRCm39)	E765D	probably damaging	Het
Scart1	A	T	7: 139,803,890 (GRCm39)	N363Y	possibly damaging	Het
Sec14l4	G	A	11: 3,990,041 (GRCm39)	M113I	probably benign	Het
Senp1	C	T	15: 97,980,165 (GRCm39)	C60Y	probably damaging	Het
Slc22a21	T	A	11: 53,842,130 (GRCm39)	K549N	probably benign	Het
Slc39a10	T	C	1: 46,875,156 (GRCm39)	S49G	probably damaging	Het
Spata13	T	C	14: 60,947,004 (GRCm39)	M684T	probably damaging	Het
Spns1	T	C	7: 125,969,958 (GRCm39)	T481A	probably damaging	Het
Stag1	A	G	9: 100,668,666 (GRCm39)	Y198C	possibly damaging	Het
Tnc	C	T	4: 63,893,475 (GRCm39)	E1604K	possibly damaging	Het
Tspan31	T	C	10: 126,904,365 (GRCm39)	D143G	probably benign	Het
Tspan5	T	A	3: 138,603,903 (GRCm39)	Y131*	probably null	Het
Ttc21a	A	G	9: 119,795,189 (GRCm39)	D1070G	probably damaging	Het
Vmn2r26	C	T	6: 124,016,708 (GRCm39)	P391S	probably benign	Het
Vmn2r72	A	G	7: 85,387,464 (GRCm39)	I700T	probably damaging	Het
Vps13c	A	C	9: 67,821,102 (GRCm39)	N1204T	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het

Other mutations in Tgfbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Tgfbr1	APN	4	47,383,992 (GRCm39)	missense	probably benign	0.00
IGL00757:Tgfbr1	APN	4	47,405,581 (GRCm39)	missense	probably damaging	1.00
IGL02001:Tgfbr1	APN	4	47,403,388 (GRCm39)	missense	probably damaging	1.00
IGL02207:Tgfbr1	APN	4	47,410,785 (GRCm39)	utr 3 prime	probably benign
IGL02338:Tgfbr1	APN	4	47,393,490 (GRCm39)	critical splice donor site	probably null
PIT4480001:Tgfbr1	UTSW	4	47,402,955 (GRCm39)	missense	probably benign	0.44
R0097:Tgfbr1	UTSW	4	47,403,451 (GRCm39)	nonsense	probably null
R0097:Tgfbr1	UTSW	4	47,403,451 (GRCm39)	nonsense	probably null
R1299:Tgfbr1	UTSW	4	47,396,587 (GRCm39)	critical splice donor site	probably null
R1444:Tgfbr1	UTSW	4	47,393,259 (GRCm39)	missense	probably benign
R1530:Tgfbr1	UTSW	4	47,410,688 (GRCm39)	missense	probably damaging	1.00
R1591:Tgfbr1	UTSW	4	47,403,471 (GRCm39)	missense	probably damaging	1.00
R1611:Tgfbr1	UTSW	4	47,396,526 (GRCm39)	missense	probably damaging	1.00
R4352:Tgfbr1	UTSW	4	47,402,863 (GRCm39)	missense	probably damaging	1.00
R4736:Tgfbr1	UTSW	4	47,383,835 (GRCm39)	missense	probably benign
R5180:Tgfbr1	UTSW	4	47,383,948 (GRCm39)	nonsense	probably null
R5907:Tgfbr1	UTSW	4	47,396,555 (GRCm39)	missense	probably damaging	1.00
R6462:Tgfbr1	UTSW	4	47,402,846 (GRCm39)	missense	probably damaging	1.00
R6842:Tgfbr1	UTSW	4	47,383,757 (GRCm39)	missense	probably damaging	1.00
R7017:Tgfbr1	UTSW	4	47,410,728 (GRCm39)	missense	probably damaging	0.99
R7206:Tgfbr1	UTSW	4	47,402,941 (GRCm39)	missense	probably damaging	1.00
R7402:Tgfbr1	UTSW	4	47,405,623 (GRCm39)	missense	probably damaging	1.00
R7862:Tgfbr1	UTSW	4	47,403,489 (GRCm39)	missense	probably damaging	0.99
R8210:Tgfbr1	UTSW	4	47,406,924 (GRCm39)	missense	probably benign	0.01
R8787:Tgfbr1	UTSW	4	47,405,555 (GRCm39)	missense	possibly damaging	0.94
RF013:Tgfbr1	UTSW	4	47,353,354 (GRCm39)	missense	unknown
Z1176:Tgfbr1	UTSW	4	47,353,790 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTGCTTTATCTCACAAATAGGGG -3'
(R):5'- TCCAGTTAGGTTTCACGATCTG -3'

Sequencing Primer
(F):5'- CTCACAAATAGGGGGTATACTCTG -3'
(R):5'- CACACAGGAACATAAGCTTAAATAAC -3'

Posted On

2014-10-30