|Institutional Source||Beutler Lab|
|Gene Name||phosphatase and tensin homolog|
|Synonyms||A130070J02Rik, 2310035O07Rik, B430203M17Rik, MMAC1, TEP1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1479 (G1)|
|Chromosomal Location||32757497-32826160 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 32819850 bp|
|Amino Acid Change||Leucine to Glutamine at position 345 (L345Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000013807 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000013807]|
|Predicted Effect||probably damaging
AA Change: L345Q
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: L345Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.286|
|Coding Region Coverage||
|Validation Efficiency||96% (81/84)|
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||
|Other mutations in Pten||
(F):5'- AGTGCTCTGTTAGCTTGCACCATTC -3'
(R):5'- TGCAATCTGACACAATGTCCTATTGCC -3'
(F):5'- CATAGAGTTGTCTCAGAGATTGCAAG -3'
(R):5'- CATTCTCTGGATCAGAGTCAGTG -3'