|Institutional Source||Beutler Lab|
|Gene Name||serine (or cysteine) peptidase inhibitor, clade A, member 5|
|Synonyms||alpha-1 antiproteinase, Pci, PAI-3, antitrypsin|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5608 (G1)|
|Chromosomal Location||104101113-104106137 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 104103744 bp|
|Amino Acid Change||Tyrosine to Serine at position 300 (Y300S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021495 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021495]|
|Predicted Effect||probably damaging
AA Change: Y300S
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: Y300S
|Meta Mutation Damage Score||0.2088|
|Coding Region Coverage||
|Validation Efficiency||95% (54/57)|
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 serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene are phenotypically normal with the exception that males are infertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Serpina5||
(F):5'- GCTCCAAACTTAAATGTTACCCATC -3'
(R):5'- TTTCTGAAATCAGGTGCTCAGG -3'
(F):5'- TCAAGTCTTCAGTCCAGGACATG -3'
(R):5'- GGAGCTTCTAGACTCACCTCAG -3'