Mutagenetix > Incidental Mutation

Incidental Mutation 'R5196:Pten'

400290

Institutional Source

Beutler Lab

Gene Symbol

Pten

Ensembl Gene

ENSMUSG00000013663

Gene Name

phosphatase and tensin homolog

Synonyms

TEP1, B430203M17Rik, A130070J02Rik, 2310035O07Rik, MMAC1

MMRRC Submission

042772-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5196 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32734977-32803560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32792897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 239 (M239L)

Ref Sequence

ENSEMBL: ENSMUSP00000013807 (fasta)

Gene Model

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

AlphaFold

O08586

Predicted Effect

probably benign
Transcript: ENSMUST00000013807
AA Change: M239L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000013807
Gene: ENSMUSG00000013663
AA Change: M239L

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: ENSMUST00000154806

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

100% (62/62)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,686,450 (GRCm39)	T281A	possibly damaging	Het
4930503B20Rik	A	G	3: 146,352,018 (GRCm39)		probably benign	Het
6330409D20Rik	T	A	2: 32,630,552 (GRCm39)		probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Amigo2	A	G	15: 97,143,942 (GRCm39)	F160S	probably damaging	Het
Arcn1	A	T	9: 44,671,324 (GRCm39)	L68M	probably damaging	Het
Arhgef25	A	G	10: 127,020,978 (GRCm39)	S303P	probably damaging	Het
Asph	A	T	4: 9,607,830 (GRCm39)	S163T	probably damaging	Het
Birc6	T	C	17: 74,913,136 (GRCm39)		probably benign	Het
Bltp3a	A	G	17: 28,075,737 (GRCm39)	I5V	probably benign	Het
Ccm2	G	A	11: 6,511,181 (GRCm39)		probably benign	Het
Cdc42bpa	T	C	1: 179,899,978 (GRCm39)	V431A	probably benign	Het
Cdh20	T	A	1: 110,065,730 (GRCm39)	M668K	probably damaging	Het
Cfap43	A	T	19: 47,814,364 (GRCm39)	W157R	probably damaging	Het
Chrm5	T	C	2: 112,310,729 (GRCm39)	Y129C	probably damaging	Het
Chrna5	A	G	9: 54,913,803 (GRCm39)	I421V	possibly damaging	Het
Clk1	T	A	1: 58,453,772 (GRCm39)	T301S	probably benign	Het
Col6a3	G	T	1: 90,744,260 (GRCm39)		probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxw19	T	C	9: 109,313,496 (GRCm39)	Y234C	probably benign	Het
Fgd4	T	A	16: 16,302,006 (GRCm39)	N183I	probably benign	Het
Fnip2	T	C	3: 79,479,845 (GRCm39)		probably benign	Het
Gask1a	T	G	9: 121,794,727 (GRCm39)	S294A	probably benign	Het
Gm9847	T	A	12: 14,545,016 (GRCm39)		noncoding transcript	Het
H2-T23	A	G	17: 36,343,499 (GRCm39)		probably null	Het
Hdlbp	T	C	1: 93,347,915 (GRCm39)	E613G	probably damaging	Het
Kat6a	G	A	8: 23,401,729 (GRCm39)	R366H	probably damaging	Het
Kctd4	A	G	14: 76,200,127 (GRCm39)	T33A	probably benign	Het
Klrb1c	T	A	6: 128,757,262 (GRCm39)	S268C	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrfip1	A	G	1: 91,042,330 (GRCm39)	E245G	probably damaging	Het
Mast3	A	T	8: 71,240,889 (GRCm39)	I220N	probably damaging	Het
Mfap3	A	G	11: 57,420,639 (GRCm39)	T207A	probably damaging	Het
Mtdh	G	T	15: 34,118,150 (GRCm39)	K75N	probably damaging	Het
Mybpc1	A	G	10: 88,372,213 (GRCm39)	Y806H	probably damaging	Het
Ntng1	T	C	3: 109,842,299 (GRCm39)	D158G	probably damaging	Het
Odr4	T	A	1: 150,258,140 (GRCm39)	D165V	probably damaging	Het
Or5d46	A	G	2: 88,170,092 (GRCm39)	Y61C	possibly damaging	Het
Or6c216	T	A	10: 129,678,650 (GRCm39)	D87V	possibly damaging	Het
Pask	A	G	1: 93,237,805 (GRCm39)		probably benign	Het
Pif1	G	T	9: 65,495,374 (GRCm39)	A95S	probably benign	Het
Plppr2	T	C	9: 21,852,428 (GRCm39)	F104S	probably damaging	Het
Prmt9	G	A	8: 78,291,626 (GRCm39)	V333M	probably benign	Het
Rb1cc1	A	G	1: 6,304,454 (GRCm39)	D67G	probably damaging	Het
Reg2	T	A	6: 78,382,530 (GRCm39)	L12*	probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc5a7	C	A	17: 54,588,750 (GRCm39)		probably null	Het
Tcaf3	G	T	6: 42,570,649 (GRCm39)	R368S	probably benign	Het
Tfcp2	A	G	15: 100,418,595 (GRCm39)	V189A	probably damaging	Het
Wdr12	T	C	1: 60,126,243 (GRCm39)	S191G	probably damaging	Het
Zfp536	G	A	7: 37,180,185 (GRCm39)	R807W	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
R5200:Pten	UTSW	19	32,777,291 (GRCm39)	missense	probably damaging	0.97
R5672:Pten	UTSW	19	32,735,866 (GRCm39)	missense	probably benign
R6143:Pten	UTSW	19	32,777,485 (GRCm39)	missense	possibly damaging	0.91
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'- AGAAGTCCTTACATGGGTTGG -3'
(R):5'- TTTGGTAGATGGCAGAGAAATAGTC -3'

Sequencing Primer
(F):5'- AGAAGTCCTTACATGGGTTGGTTATG -3'
(R):5'- TACAGAATAATTTCCTAACCAAAGGC -3'

Posted On

2016-07-06