|Institutional Source||Beutler Lab|
|Gene Name||pregnancy-associated plasma protein A|
|Synonyms||IGFBP-4ase, PAPP-A, PAG1, 8430414N03Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.738)|
|Stock #||R6578 (G1)|
|Chromosomal Location||65124174-65357509 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 65156137 bp|
|Amino Acid Change||Asparagine to Lysine at position 309 (N309K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081545 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084501]|
|Predicted Effect||possibly damaging
AA Change: N309K
PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: N309K
|Meta Mutation Damage Score||0.1952|
|Coding Region Coverage||
|Validation Efficiency||97% (37/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are smaller than normal with delayed ossification, but are otherwise normal and fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pappa||
(F):5'- CTGAATCACAACTTCCGGGG -3'
(R):5'- GAAAGTCAATCTGTTGCCAGC -3'
(F):5'- GCCACATTGAACACTTCAGTCTATGG -3'
(R):5'- AGCTCACCGTTGGATTCTCATGG -3'