|Institutional Source||Beutler Lab|
|Gene Name||pappalysin 2|
|Synonyms||pregnancy-associated plasma preproprotein-A2, placenta-specific 3, pregnancy-associated plasma protein-E, PAPP-A2, PLAC3, Pappe|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7111 (G1)|
|Chromosomal Location||158711727-158980490 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 158956526 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 305 (I305F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000124022 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000159861]|
|Predicted Effect||probably benign
AA Change: I305F
PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: I305F
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile but display postnatal growth retardation that is more pronounced in females compared to males. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pappa2||
(F):5'- TGGTGCCTACACTGCTTCTG -3'
(R):5'- TAGTGACAGTCCATTGGAGGGC -3'
(F):5'- TGCTTCTGCACTGATAAATAACCC -3'
(R):5'- AAATGGTGGAGGGGCCTCTC -3'