Mutagenetix > Incidental Mutation

Incidental Mutation 'R1387:Pten'

162469

Institutional Source

Beutler Lab

Gene Symbol

Pten

Ensembl Gene

ENSMUSG00000013663

Gene Name

phosphatase and tensin homolog

Synonyms

TEP1, B430203M17Rik, A130070J02Rik, 2310035O07Rik, MMAC1

MMRRC Submission

039449-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32734977-32803560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32775496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 79 (A79S)

Ref Sequence

ENSEMBL: ENSMUSP00000013807 (fasta)

Gene Model

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

AlphaFold

O08586

Predicted Effect

probably benign
Transcript: ENSMUST00000013807
AA Change: A79S

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

SMART Domains

Protein: ENSMUSP00000013807
Gene: ENSMUSG00000013663
AA Change: A79S

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

0.0712

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.4%

Validation Efficiency

99% (82/83)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	T	A	9: 98,068,812 (GRCm39)		noncoding transcript	Het
4930447C04Rik	C	A	12: 72,962,208 (GRCm39)	R52L	probably benign	Het
Abca13	C	T	11: 9,632,085 (GRCm39)	Q5002*	probably null	Het
Acacb	T	C	5: 114,338,573 (GRCm39)	I761T	probably benign	Het
Acap3	G	T	4: 155,983,937 (GRCm39)	L134F	probably benign	Het
Adamtsl1	T	C	4: 86,293,230 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,641,295 (GRCm39)	V3278A	possibly damaging	Het
Agxt2	T	C	15: 10,380,696 (GRCm39)	Y196H	probably damaging	Het
Akap13	T	C	7: 75,235,941 (GRCm39)	V172A	probably damaging	Het
Aqp8	A	G	7: 123,065,891 (GRCm39)	I229V	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Brd10	A	G	19: 29,700,853 (GRCm39)	I812T	probably benign	Het
Cacng8	T	C	7: 3,463,672 (GRCm39)	S275P	possibly damaging	Het
Catsperg1	T	C	7: 28,906,289 (GRCm39)	Y138C	probably damaging	Het
Ccdc93	T	G	1: 121,418,918 (GRCm39)	L491R	probably damaging	Het
Cntnap2	T	C	6: 47,084,848 (GRCm39)	V1103A	probably benign	Het
Col12a1	C	T	9: 79,588,657 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,750,138 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,182,414 (GRCm39)	A6T	probably damaging	Het
Cyp2j5	T	A	4: 96,522,522 (GRCm39)	S351C	probably damaging	Het
Cyth1	A	G	11: 118,073,172 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,223,309 (GRCm39)		probably benign	Het
Duoxa1	T	A	2: 122,134,468 (GRCm39)	I262F	possibly damaging	Het
Dync2h1	T	C	9: 7,125,816 (GRCm39)	D1930G	probably benign	Het
Eeig1	T	C	2: 32,455,635 (GRCm39)	S254P	possibly damaging	Het
Eno1	C	T	4: 150,332,590 (GRCm39)		probably benign	Het
Fam98a	T	A	17: 75,845,264 (GRCm39)	H494L	unknown	Het
Fcamr	C	A	1: 130,732,379 (GRCm39)	T122K	possibly damaging	Het
Foxq1	A	G	13: 31,743,288 (GRCm39)	D130G	probably damaging	Het
Glb1	T	A	9: 114,249,431 (GRCm39)	W5R	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm5431	T	A	11: 48,785,842 (GRCm39)	R178W	possibly damaging	Het
Gys2	C	T	6: 142,407,009 (GRCm39)	V116M	probably benign	Het
Hif1a	C	T	12: 73,989,066 (GRCm39)	T651I	possibly damaging	Het
Itgb5	T	A	16: 33,720,885 (GRCm39)	Y3*	probably null	Het
Kank3	A	G	17: 34,035,205 (GRCm39)	N7S	possibly damaging	Het
Kdm2b	G	T	5: 123,018,331 (GRCm39)	H981Q	probably damaging	Het
Kdm6a	C	T	X: 18,120,235 (GRCm39)		probably benign	Het
Kif1a	A	T	1: 92,983,672 (GRCm39)		probably benign	Het
Knl1	T	A	2: 118,901,211 (GRCm39)	S971T	possibly damaging	Het
Lcn6	T	C	2: 25,567,149 (GRCm39)	V50A	possibly damaging	Het
Llgl2	G	T	11: 115,743,958 (GRCm39)	V762F	probably damaging	Het
Lpcat4	T	C	2: 112,075,021 (GRCm39)	F342L	probably benign	Het
Lrp2	C	A	2: 69,287,262 (GRCm39)	G3725V	probably damaging	Het
Map1b	T	C	13: 99,569,158 (GRCm39)	T1188A	unknown	Het
Mecp2	G	A	X: 73,079,394 (GRCm39)	P362S	possibly damaging	Het
Mideas	C	A	12: 84,199,705 (GRCm39)	R1005L	probably damaging	Het
Mmp13	T	A	9: 7,282,033 (GRCm39)	F445Y	possibly damaging	Het
Myo5b	G	T	18: 74,777,272 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,116,805 (GRCm39)		probably benign	Het
Nadk2	C	A	15: 9,106,870 (GRCm39)	L384I	possibly damaging	Het
Napg	A	G	18: 63,119,283 (GRCm39)	I98V	possibly damaging	Het
Ncoa1	G	T	12: 4,324,790 (GRCm39)	N1041K	probably benign	Het
Nmu	A	T	5: 76,497,992 (GRCm39)	C64*	probably null	Het
Nobox	T	A	6: 43,284,132 (GRCm39)	K13M	probably damaging	Het
Nos1	T	C	5: 118,091,848 (GRCm39)		probably benign	Het
Nrg2	A	G	18: 36,329,792 (GRCm39)	V141A	probably damaging	Het
Or1b1	T	G	2: 36,994,880 (GRCm39)	I261L	probably benign	Het
Or2aj5	T	C	16: 19,424,777 (GRCm39)	I214V	probably damaging	Het
Or55b4	T	A	7: 102,133,911 (GRCm39)	I139L	probably benign	Het
Phldb2	C	T	16: 45,646,357 (GRCm39)	E71K	possibly damaging	Het
Pik3r4	T	A	9: 105,521,490 (GRCm39)	Y19N	probably damaging	Het
Pkhd1	A	C	1: 20,625,447 (GRCm39)		probably benign	Het
Pogk	G	T	1: 166,227,707 (GRCm39)	P148Q	possibly damaging	Het
Ptpdc1	A	T	13: 48,739,796 (GRCm39)	V545E	possibly damaging	Het
Qdpr	G	C	5: 45,607,480 (GRCm39)		probably benign	Het
Rhbdd3	T	A	11: 5,054,121 (GRCm39)	H83Q	probably damaging	Het
Rnf6	A	G	5: 146,148,055 (GRCm39)	V321A	probably benign	Het
Rtf1	T	A	2: 119,536,126 (GRCm39)		probably null	Het
Serpina10	C	T	12: 103,594,500 (GRCm39)	V240I	probably benign	Het
Siah2	A	G	3: 58,598,935 (GRCm39)	V101A	possibly damaging	Het
Taok3	A	G	5: 117,344,720 (GRCm39)	K46R	probably damaging	Het
Tcaf2	A	C	6: 42,601,512 (GRCm39)	L849R	probably damaging	Het
Upf3a	T	C	8: 13,842,118 (GRCm39)	F178S	probably damaging	Het
Vmn1r218	G	A	13: 23,321,478 (GRCm39)	G195D	probably damaging	Het
Vmn2r59	A	G	7: 41,695,521 (GRCm39)	V297A	probably damaging	Het
Vmn2r70	T	A	7: 85,207,969 (GRCm39)	Q836L	probably benign	Het
Zfp473	A	G	7: 44,382,365 (GRCm39)	V655A	probably benign	Het
Zic5	A	G	14: 122,696,897 (GRCm39)	S573P	unknown	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
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
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'- AGGGTCAGTGCAGTTGAATTTACAGTG -3'
(R):5'- GTCGGTCCCCAGAAACTGTTCTTAC -3'

Sequencing Primer
(F):5'- tcttgaagttaacggaaatagtgac -3'
(R):5'- cagacagacagacagacagac -3'

Posted On

2014-03-17