|Institutional Source||Beutler Lab|
|Gene Name||diphosphoinositol pentakisphosphate kinase 2|
|Essential gene?||Possibly non essential (E-score: 0.275)|
|Stock #||R5898 (G1)|
|Chromosomal Location||97706048-97770411 bp(-) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||T to C at 97744162 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000132889 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042509] [ENSMUST00000112845] [ENSMUST00000171129]|
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (86/90)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppip5k2||
(F):5'- TTTTAAGCAGCACACCAATCCC -3'
(R):5'- CTGTGCCTATCTGTACAGTGTT -3'
(F):5'- TCCCAAAACCTACTGAACAGGAAATG -3'
(R):5'- GCCTATCTGTACAGTGTTTTCAGAC -3'