Mutagenetix > Incidental Mutation

Incidental Mutation 'R0399:Tpbg'

38064

Institutional Source

Beutler Lab

Gene Symbol

Tpbg

Ensembl Gene

ENSMUSG00000035274

Gene Name

trophoblast glycoprotein

Synonyms

5T4 oncofetal antigen, 5T4

MMRRC Submission

038604-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R0399 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85724433-85729093 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85726991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 320 (V320E)

Ref Sequence

ENSEMBL: ENSMUSP00000096101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006559] [ENSMUST00000098500]

AlphaFold

Q9Z0L0

Predicted Effect

probably benign
Transcript: ENSMUST00000006559
AA Change: V320E

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000006559
Gene: ENSMUSG00000035274
AA Change: V320E

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
LRRNT	61	95	1.27e-6	SMART
LRR	94	113	1.53e2	SMART
LRR_TYP	117	140	1.92e-2	SMART
LRR_TYP	141	164	6.88e-4	SMART
LRR	215	238	6.22e0	SMART
LRR_TYP	239	262	2.2e-2	SMART
LRR	263	286	2.67e-1	SMART
LRRCT	300	351	9.1e-14	SMART
transmembrane domain	360	382	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069896

SMART Domains

Protein: ENSMUSP00000126873
Gene: ENSMUSG00000056031

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	68	88	N/A	INTRINSIC
low complexity region	103	122	N/A	INTRINSIC
low complexity region	150	193	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098500
AA Change: V320E

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096101
Gene: ENSMUSG00000035274
AA Change: V320E

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
LRRNT	61	95	1.27e-6	SMART
LRR	94	113	1.53e2	SMART
LRR_TYP	117	140	1.92e-2	SMART
LRR_TYP	141	164	6.88e-4	SMART
LRR	215	238	6.22e0	SMART
LRR_TYP	239	262	2.2e-2	SMART
LRR	263	286	2.67e-1	SMART
LRRCT	300	351	9.1e-14	SMART
transmembrane domain	360	382	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189191

Meta Mutation Damage Score

0.0879

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit low penetrance hydrocephaly and premature death. Embryonic stem cells isolated from these mice exhibit impaired mesenchyme differentiation and reduced chemotaxis following differentiation. [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
6030452D12Rik	T	C	8: 107,231,174 (GRCm39)	M120T	unknown	Het
Actr1a	A	T	19: 46,373,450 (GRCm39)		probably null	Het
Anapc5	A	T	5: 122,929,816 (GRCm39)	V555D	probably damaging	Het
Aox1	A	G	1: 58,108,008 (GRCm39)		probably null	Het
Arhgap30	A	G	1: 171,232,384 (GRCm39)	E343G	probably damaging	Het
Asap2	C	T	12: 21,267,998 (GRCm39)	T291I	possibly damaging	Het
Atp5f1a	T	A	18: 77,869,536 (GRCm39)	Y439*	probably null	Het
Auts2	A	T	5: 131,469,362 (GRCm39)	S428T	probably benign	Het
B3gnt7	T	A	1: 86,233,433 (GRCm39)	C109*	probably null	Het
C4b	C	A	17: 34,947,843 (GRCm39)	Q1657H	probably damaging	Het
Cadm2	A	T	16: 66,544,225 (GRCm39)	L268*	probably null	Het
Cep290	G	A	10: 100,390,262 (GRCm39)		probably benign	Het
Cep68	T	G	11: 20,180,571 (GRCm39)	I687L	probably benign	Het
Chd6	T	A	2: 160,894,608 (GRCm39)	D84V	probably damaging	Het
Clpx	A	G	9: 65,230,051 (GRCm39)	T514A	probably benign	Het
Cox18	A	T	5: 90,362,887 (GRCm39)	C324S	probably benign	Het
Cryzl2	T	C	1: 157,289,586 (GRCm39)	Y75H	probably damaging	Het
Cxcr6	C	T	9: 123,640,016 (GRCm39)	A339V	possibly damaging	Het
Dock1	T	C	7: 134,765,171 (GRCm39)	L1721P	probably benign	Het
Dstyk	T	C	1: 132,380,818 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
Ehf	A	G	2: 103,097,215 (GRCm39)	Y246H	probably damaging	Het
Epas1	T	C	17: 87,112,621 (GRCm39)	V73A	probably benign	Het
Filip1	A	G	9: 79,725,592 (GRCm39)	I1009T	possibly damaging	Het
Glis3	A	T	19: 28,276,168 (GRCm39)		probably benign	Het
Gm17333	A	T	16: 77,649,678 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Gpr155	A	T	2: 73,200,346 (GRCm39)	I387N	possibly damaging	Het
Gria1	A	G	11: 57,076,853 (GRCm39)	D83G	probably damaging	Het
Grid2	A	G	6: 64,643,036 (GRCm39)	I933V	probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hook2	A	G	8: 85,720,196 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,269,314 (GRCm39)	S656R	possibly damaging	Het
Il11ra1	A	T	4: 41,766,185 (GRCm39)	T241S	probably benign	Het
Kank1	A	G	19: 25,388,606 (GRCm39)	I760V	probably benign	Het
Kansl1	T	C	11: 104,314,958 (GRCm39)	E360G	possibly damaging	Het
Klf9	A	T	19: 23,119,446 (GRCm39)	S110C	probably damaging	Het
Klhl31	A	G	9: 77,557,935 (GRCm39)	N217S	probably benign	Het
Lct	T	C	1: 128,228,262 (GRCm39)	Y1077C	probably damaging	Het
Lrrc49	A	T	9: 60,517,529 (GRCm39)		probably benign	Het
Lrrn1	T	A	6: 107,546,081 (GRCm39)	H626Q	probably benign	Het
Mmp28	A	T	11: 83,342,558 (GRCm39)	L40Q	probably damaging	Het
Mroh1	C	T	15: 76,336,299 (GRCm39)	A1530V	probably benign	Het
Myo1e	A	G	9: 70,209,075 (GRCm39)		probably benign	Het
Naa25	A	T	5: 121,573,553 (GRCm39)	M761L	probably benign	Het
Ncln	G	A	10: 81,324,131 (GRCm39)	A465V	probably damaging	Het
Nktr	A	G	9: 121,560,550 (GRCm39)	N98S	probably damaging	Het
Or52h9	T	A	7: 104,202,576 (GRCm39)	V150E	probably benign	Het
Or5a1	G	C	19: 12,097,734 (GRCm39)	A114G	possibly damaging	Het
Or6d15	C	A	6: 116,559,742 (GRCm39)	S55I	probably benign	Het
Or8b4	G	T	9: 37,830,849 (GRCm39)	A304S	possibly damaging	Het
Or9g3	T	C	2: 85,590,248 (GRCm39)	I157M	possibly damaging	Het
Pacsin2	T	C	15: 83,270,983 (GRCm39)	Y222C	probably damaging	Het
Pcdhb15	C	T	18: 37,607,221 (GRCm39)	T151M	possibly damaging	Het
Plcz1	C	A	6: 139,968,956 (GRCm39)	V161L	possibly damaging	Het
Ppp6c	G	A	2: 39,090,136 (GRCm39)		probably benign	Het
Relch	A	G	1: 105,678,684 (GRCm39)		probably benign	Het
Rhbdf2	T	A	11: 116,494,818 (GRCm39)	Y286F	probably benign	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Slc35c2	A	C	2: 165,122,815 (GRCm39)	Y156*	probably null	Het
Spata46	A	G	1: 170,139,106 (GRCm39)	D35G	probably damaging	Het
Tmed3	A	G	9: 89,584,926 (GRCm39)	F110L	possibly damaging	Het
Tmem104	T	G	11: 115,092,134 (GRCm39)		probably benign	Het
Trib2	T	C	12: 15,843,664 (GRCm39)	D190G	probably damaging	Het
Tspan2	A	G	3: 102,666,701 (GRCm39)	T26A	probably damaging	Het
Usp17lb	A	C	7: 104,490,358 (GRCm39)	Y190D	possibly damaging	Het
Utp18	C	T	11: 93,770,973 (GRCm39)		probably benign	Het
Utp20	A	T	10: 88,656,841 (GRCm39)	D121E	probably damaging	Het
Vmn1r80	T	A	7: 11,927,244 (GRCm39)	M118K	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,794 (GRCm39)	S300G	probably benign	Het

Other mutations in Tpbg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Tpbg	APN	9	85,726,145 (GRCm39)	missense	unknown
IGL01789:Tpbg	APN	9	85,726,954 (GRCm39)	missense	probably benign	0.00
IGL01987:Tpbg	APN	9	85,727,252 (GRCm39)	missense	probably damaging	1.00
R0418:Tpbg	UTSW	9	85,726,803 (GRCm39)	nonsense	probably null
R0904:Tpbg	UTSW	9	85,726,617 (GRCm39)	missense	unknown
R1748:Tpbg	UTSW	9	85,726,429 (GRCm39)	missense	probably damaging	1.00
R3744:Tpbg	UTSW	9	85,727,215 (GRCm39)	missense	probably damaging	1.00
R3836:Tpbg	UTSW	9	85,725,167 (GRCm39)	intron	probably benign
R3837:Tpbg	UTSW	9	85,725,167 (GRCm39)	intron	probably benign
R3839:Tpbg	UTSW	9	85,725,167 (GRCm39)	intron	probably benign
R5221:Tpbg	UTSW	9	85,726,478 (GRCm39)	missense	probably damaging	1.00
R6488:Tpbg	UTSW	9	85,726,538 (GRCm39)	missense	possibly damaging	0.70
R7192:Tpbg	UTSW	9	85,726,085 (GRCm39)	nonsense	probably null
R7462:Tpbg	UTSW	9	85,726,903 (GRCm39)	missense	possibly damaging	0.56
R8481:Tpbg	UTSW	9	85,726,138 (GRCm39)	missense	unknown
R8895:Tpbg	UTSW	9	85,726,520 (GRCm39)	missense	possibly damaging	0.50
R9073:Tpbg	UTSW	9	85,724,924 (GRCm39)	splice site	probably null
R9092:Tpbg	UTSW	9	85,726,916 (GRCm39)	missense	possibly damaging	0.87
R9319:Tpbg	UTSW	9	85,725,991 (GRCm39)	start gained	probably benign
R9655:Tpbg	UTSW	9	85,726,252 (GRCm39)	missense	probably damaging	1.00
R9708:Tpbg	UTSW	9	85,726,574 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AATTCCCTGGTGAGCCTGACCTAC -3'
(R):5'- ACCTCATGCAGAGTCCTCCTTGAC -3'

Sequencing Primer
(F):5'- TGAGCCTGACCTACGCATC -3'
(R):5'- TTCTCAGACATCCGAGTTGGAAC -3'

Posted On

2013-05-23