|Institutional Source||Beutler Lab|
|Gene Name||transmembrane and tetratricopeptide repeat containing 2|
|Is this an essential gene?||Probably non essential (E-score: 0.107)|
|Stock #||R5769 (G1)|
|Chromosomal Location||105187663-105574451 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 105370046 bp|
|Amino Acid Change||Isoleucine to Valine at position 463 (I463V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061919 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061506]|
|Predicted Effect||probably benign
AA Change: I463V
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: I463V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0688|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmtc2||
(F):5'- GTTTTAAGGCACCAAACGATGC -3'
(R):5'- CGTCCACGGAGAACATTGTTATTC -3'
(F):5'- ATGCTCTAAGAAGGCTGCC -3'
(R):5'- CACGGAGAACATTGTTATTCTGTCC -3'