|Institutional Source||Beutler Lab|
|Gene Name||mechanistic target of rapamycin kinase|
|Synonyms||RAPT1, FKBP-rapamycin-associated protein FRAP, RAFT1, flat, Frap1, 2610315D21Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6543 (G1)|
|Chromosomal Location||148448611-148557683 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 148545596 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 2250 (I2250N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099510 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103221]|
|Predicted Effect||probably damaging
AA Change: I2250N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I2250N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9744|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
|MGI Phenotype||Strain: 3529989; 4820819; 3512186; 5425404; 3052669
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for targeted, gene trap and ENU-induced null alleles exhibit embryonic lethality by E12.5 with abnormal embryogenesis. Mice homozygous for the ENU mutation further exhibit abnormal brain development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtor||
(F):5'- TGGGATGCCTTCTTCACAG -3'
(R):5'- CATTAAGCCTTCTTCCACAGTG -3'
(F):5'- TCTTCACAGAGGGCCCCTTAG -3'
(R):5'- CCACAGTGATTTCCTCAGATAGC -3'