|Institutional Source||Beutler Lab|
|Gene Name||pleckstrin homology domain interacting protein|
|Synonyms||Wdr11, 2810004D21Rik, 4632404O06Rik, Ndrp|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8080 (G1)|
|Chromosomal Location||82866159-82975516 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 82887609 bp|
|Amino Acid Change||Leucine to Proline at position 1147 (L1147P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034787 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034787]|
|Predicted Effect||probably damaging
AA Change: L1147P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L1147P
|Meta Mutation Damage Score||0.5096|
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal and premature lethality associated with reduced body size, small myocardial cells and hepatocytes, hypoglycemia, increased insulin sensitivity, and reduced cell growth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Phip||
(F):5'- ATGTGTCACGTGATGAGAAAAC -3'
(R):5'- CAGGTATAACTGGAGTGTAGTACAC -3'
(F):5'- TCAAGTCTGTTGAGTGTAAGAAGC -3'
(R):5'- ATGCTTTTTGAGATGCGTTTTATTTG -3'