|Institutional Source||Beutler Lab|
|Gene Name||protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3968 (G1)|
|Chromosomal Location||106470339-106935952 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 106906521 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 1058 (D1058E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151545 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029404] [ENSMUST00000217854]|
|Predicted Effect||probably benign
AA Change: D1057E
PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: D1057E
|Predicted Effect||probably damaging
AA Change: D1058E
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.048|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
|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 LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppfia2||
(F):5'- CTATAAAACAATTCCAGTGTCCGG -3'
(R):5'- GCCTGAACACTTGTTGCAAG -3'
(F):5'- AGTGTCCGGTTTTTCTACAGAC -3'
(R):5'- CTTGTTGCAAGTAGAATTCACAAACC -3'