|Institutional Source||Beutler Lab|
|Gene Name||serine (or cysteine) peptidase inhibitor, clade I, member 2|
|Is this an essential gene?||Probably non essential (E-score: 0.074)|
|Stock #||R6688 (G1)|
|Chromosomal Location||75242370-75270078 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 75259563 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 129 (E129G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046943 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039047]|
|Predicted Effect||possibly damaging
AA Change: E129G
PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: E129G
|Meta Mutation Damage Score||0.1652|
|Coding Region Coverage||
|Validation Efficiency||100% (33/33)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a transgene insertion/deletion encompassing this gene display pancreatic insufficiency characterized by progressive apoptosis of pancreatic acinar cells, postnatal growth retardation, immunological anomalies, and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Serpini2||
(F):5'- GTGCAATGGGAAAACATTCAGCC -3'
(R):5'- GTGACATAAAGCCAAGAAGCTATTG -3'
(F):5'- TGGGAAAACATTCAGCCACTCTTTAC -3'
(R):5'- AAGCCAAGAAGCTATTGTTTTTGGG -3'