Mutagenetix > Incidental Mutation

Incidental Mutation 'R6143:Pten'

488712

Institutional Source

Beutler Lab

Gene Symbol

Pten

Ensembl Gene

ENSMUSG00000013663

Gene Name

phosphatase and tensin homolog

Synonyms

TEP1, B430203M17Rik, A130070J02Rik, 2310035O07Rik, MMAC1

MMRRC Submission

044290-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32734977-32803560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32777485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 160 (T160A)

Ref Sequence

ENSEMBL: ENSMUSP00000013807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013807]

AlphaFold

O08586

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013807
AA Change: T160A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000013807
Gene: ENSMUSG00000013663
AA Change: T160A

Domain	Start	End	E-Value	Type
Pfam:Y_phosphatase	42	183	2.7e-6	PFAM
Pfam:DSPc	67	173	2.4e-9	PFAM
PTEN_C2	188	349	4.07e-49	SMART
low complexity region	360	371	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140014

Meta Mutation Damage Score

0.4122

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: This gene encodes a phosphatase with dual activity against phospholipids and proteins, and acts as a tumor-suppressor. The protein contains four structural domains, a PIP2-binding domain, a catalytic tensin-type phosphatase domain, a C2 tensin-type domain and a PDZ-binding domain. The protein belongs to the protein tyrosine phosphatase family. Deletion of this gene in mice contribute to tumorigenesis in multiple tissues. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants die by E9.5 with abnormally patterned enlarged brains and defective placentas. Heterozygotes develop a range of neoplasms. Conditional mutants demonstrate effects on basic processes of proliferation, differentiation and apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	G	14: 55,797,736 (GRCm39)		probably benign	Het
Abcd2	A	T	15: 91,075,150 (GRCm39)	V221E	possibly damaging	Het
Arhgap39	T	A	15: 76,614,606 (GRCm39)	K853*	probably null	Het
Art2a	T	C	7: 101,204,430 (GRCm39)	D36G	possibly damaging	Het
Atp13a1	C	T	8: 70,258,010 (GRCm39)	P922S	probably benign	Het
Brwd1	C	T	16: 95,804,156 (GRCm39)	G2005R	probably benign	Het
Bzw2	A	T	12: 36,170,725 (GRCm39)	M133K	probably benign	Het
Cacna1s	T	G	1: 136,004,496 (GRCm39)	S346A	probably damaging	Het
Cebpb	C	A	2: 167,531,220 (GRCm39)	D93E	probably benign	Het
Cep162	C	A	9: 87,094,904 (GRCm39)		probably null	Het
Col9a2	A	T	4: 120,911,060 (GRCm39)	Y565F	probably damaging	Het
Csgalnact1	T	A	8: 68,826,202 (GRCm39)	N372I	probably damaging	Het
Csmd1	T	C	8: 16,138,315 (GRCm39)	D1579G	probably damaging	Het
Cyfip2	A	C	11: 46,144,792 (GRCm39)	Y687*	probably null	Het
Cyp2d34	G	A	15: 82,504,977 (GRCm39)	R28W	probably benign	Het
Dbndd2	C	A	2: 164,330,206 (GRCm39)	Q13K	probably damaging	Het
Dnah5	T	A	15: 28,233,377 (GRCm39)	S245R	probably benign	Het
Dnajb5	A	T	4: 42,956,990 (GRCm39)	T226S	probably damaging	Het
Dnmt1	T	C	9: 20,838,430 (GRCm39)	E211G	probably benign	Het
Dnpep	G	A	1: 75,291,872 (GRCm39)	H214Y	probably damaging	Het
Drc3	G	A	11: 60,261,406 (GRCm39)	V186M	possibly damaging	Het
Dvl3	A	G	16: 20,345,789 (GRCm39)	D413G	possibly damaging	Het
Dyrk4	C	T	6: 126,863,614 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,506 (GRCm39)	D181E	probably damaging	Het
Enthd1	T	C	15: 80,393,487 (GRCm39)	Y247C	possibly damaging	Het
Gm5622	A	T	14: 51,892,372 (GRCm39)	R50S	possibly damaging	Het
Gpbp1	G	A	13: 111,603,389 (GRCm39)	T20I	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,410 (GRCm39)	Y276*	probably null	Het
Hsd3b7	A	C	7: 127,400,404 (GRCm39)	E51A	probably damaging	Het
Ighv5-16	G	T	12: 113,802,238 (GRCm39)	F87L	probably damaging	Het
Iqsec1	C	T	6: 90,786,666 (GRCm39)		probably null	Het
Irgm2	A	T	11: 58,111,435 (GRCm39)	E387D	possibly damaging	Het
Klhl23	C	A	2: 69,664,040 (GRCm39)	P463Q	possibly damaging	Het
Mast4	A	T	13: 102,990,391 (GRCm39)	N43K	probably damaging	Het
Mme	T	G	3: 63,207,532 (GRCm39)		probably null	Het
Mrps31	T	G	8: 22,901,539 (GRCm39)	S20A	probably benign	Het
Myo5c	A	G	9: 75,157,091 (GRCm39)	R176G	probably damaging	Het
Naf1	T	C	8: 67,330,347 (GRCm39)	V291A	possibly damaging	Het
Nbeal1	A	T	1: 60,290,466 (GRCm39)	H1021L	possibly damaging	Het
Ncaph2	T	C	15: 89,248,206 (GRCm39)		probably null	Het
Neurod4	T	G	10: 130,106,869 (GRCm39)	Y135S	probably damaging	Het
Nrp2	A	T	1: 62,799,974 (GRCm39)	N396I	probably damaging	Het
Nvl	T	G	1: 180,962,560 (GRCm39)	T137P	probably benign	Het
Or5p59	A	G	7: 107,703,335 (GRCm39)	D273G	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pcdhgc4	T	A	18: 37,950,653 (GRCm39)	S690T	possibly damaging	Het
Pck1	A	T	2: 172,995,805 (GRCm39)	D101V	probably damaging	Het
Pdilt	T	A	7: 119,094,265 (GRCm39)	N329Y	probably damaging	Het
Pfkl	T	A	10: 77,825,447 (GRCm39)	R648W	probably damaging	Het
Prtn3	T	A	10: 79,716,382 (GRCm39)	I63N	probably damaging	Het
Psg22	C	T	7: 18,456,723 (GRCm39)	A163V	probably benign	Het
Retreg2	A	G	1: 75,123,530 (GRCm39)	D449G	probably damaging	Het
Scn9a	T	C	2: 66,317,868 (GRCm39)	Y1531C	probably benign	Het
Sgk2	T	A	2: 162,841,174 (GRCm39)	C195S	probably damaging	Het
Slc19a3	C	T	1: 83,004,060 (GRCm39)	V14I	probably benign	Het
Snai2	A	T	16: 14,526,107 (GRCm39)	R253*	probably null	Het
Speg	G	A	1: 75,391,031 (GRCm39)	V1512I	probably damaging	Het
Srsf1	G	A	11: 87,940,425 (GRCm39)		probably benign	Het
Tctn3	G	T	19: 40,597,671 (GRCm39)	T190N	probably benign	Het
Tmprss11f	T	A	5: 86,687,558 (GRCm39)	I117L	probably benign	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Vmn2r118	G	T	17: 55,899,871 (GRCm39)	L678I	possibly damaging	Het
Vps13b	T	C	15: 35,668,884 (GRCm39)	S1594P	probably damaging	Het
Vps13d	G	T	4: 144,875,135 (GRCm39)	H1791N	possibly damaging	Het

Other mutations in Pten

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Arrest	UTSW	19	32,795,412 (GRCm39)	missense	possibly damaging	0.93
Brakes	UTSW	19	32,792,897 (GRCm39)	missense	probably benign
Bremse	UTSW	19	32,777,485 (GRCm39)	missense	possibly damaging	0.91
R0131:Pten	UTSW	19	32,753,469 (GRCm39)	missense	probably benign	0.15
R0557:Pten	UTSW	19	32,795,290 (GRCm39)	missense	probably benign
R1387:Pten	UTSW	19	32,775,496 (GRCm39)	missense	probably benign
R1479:Pten	UTSW	19	32,797,250 (GRCm39)	missense	probably damaging	0.99
R1773:Pten	UTSW	19	32,775,472 (GRCm39)	missense	probably damaging	1.00
R4801:Pten	UTSW	19	32,735,903 (GRCm39)	missense	possibly damaging	0.75
R4802:Pten	UTSW	19	32,735,903 (GRCm39)	missense	possibly damaging	0.75
R5196:Pten	UTSW	19	32,792,897 (GRCm39)	missense	probably benign
R5200:Pten	UTSW	19	32,777,291 (GRCm39)	missense	probably damaging	0.97
R5672:Pten	UTSW	19	32,735,866 (GRCm39)	missense	probably benign
R7644:Pten	UTSW	19	32,789,234 (GRCm39)	missense	probably damaging	1.00
R7849:Pten	UTSW	19	32,777,396 (GRCm39)	missense	probably damaging	1.00
R7867:Pten	UTSW	19	32,792,894 (GRCm39)	missense	probably benign
R9023:Pten	UTSW	19	32,795,412 (GRCm39)	missense	possibly damaging	0.93
R9149:Pten	UTSW	19	32,769,972 (GRCm39)	missense	probably benign	0.02
Z1088:Pten	UTSW	19	32,777,398 (GRCm39)	missense	probably damaging	1.00
Z1088:Pten	UTSW	19	32,753,451 (GRCm39)	missense	probably damaging	0.96
Z1176:Pten	UTSW	19	32,775,515 (GRCm39)	critical splice donor site	probably null
Z1177:Pten	UTSW	19	32,789,205 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCTTCTGTGAAGATCTTGACC -3'
(R):5'- TGGATGTTCTCAGTACAGCTAAGG -3'

Sequencing Primer
(F):5'- CTGTGAAGATCTTGACCAATGGC -3'
(R):5'- TGTTCTCAGTACAGCTAAGGAAGAG -3'

Posted On

2017-10-10