|Institutional Source||Beutler Lab|
|Gene Name||tectonin beta-propeller repeat containing 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7922 (G1)|
|Chromosomal Location||110889264-110972394 bp(+) (GRCm38)|
|Type of Mutation||frame shift|
|DNA Base Change (assembly)||CA to C at 110932642 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000127949 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165978] [ENSMUST00000169597] [ENSMUST00000223210]|
|Coding Region Coverage||
|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 a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tecpr2||
(F):5'- TCCATTTCACTGGACATTGTTG -3'
(R):5'- AGGACCACTGTTTTCCTGTGAG -3'
(F):5'- GGAACTTACTGTGTAGCTCAGACC -3'
(R):5'- GTGAGATTCCATTCACCTCACC -3'