|Institutional Source||Beutler Lab|
|Gene Name||protease, serine 12 neurotrypsin (motopsin)|
|Is this an essential gene?||Probably non essential (E-score: 0.143)|
|Stock #||R6864 (G1)|
|Chromosomal Location||123446913-123506597 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 123447384 bp|
|Amino Acid Change||Histidine to Asparagine at position 76 (H76N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029603 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029603]|
|Predicted Effect||probably benign
AA Change: H76N
PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: H76N
|Meta Mutation Damage Score||0.1079|
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity and increased anxiety. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prss12||
(F):5'- ACTGTCTGTAGTGGCCCGC -3'
(R):5'- CTGGGCATTCCGATAGAAGC -3'
(F):5'- TAGTGGCCCGCGCTGATC -3'
(R):5'- TTCCGATAGAAGCACCAAGGTCTG -3'