|Institutional Source||Beutler Lab|
|Gene Name||serine (or cysteine) peptidase inhibitor, clade E, member 2|
|Synonyms||protease nexin 1, Spi4, B230326M24Rik, nexin, PN-1, PI7|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1519 (G1)|
|Chromosomal Location||79794197-79861180 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 79795031 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 390 (F390L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027467 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027467] [ENSMUST00000189793]|
|Predicted Effect||probably damaging
AA Change: F390L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F390L
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a targeted mutation of this gene are viable and healthy but develop epileptic activity as well as reduced theta burst-induced LTP and NMDA receptor-mediated synaptic transmission in the CA1 field of the hippocampus; notably, homozygous mutant males are infertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Serpine2||
(F):5'- TCATCCTTCACTACAGCATCCCAGG -3'
(R):5'- GGTTGGCTTCACATCCATGCACTG -3'
(F):5'- GAAACACTTGCGTCACTTAACTG -3'
(R):5'- ctgtcctcaactcagctcc -3'