|Institutional Source||Beutler Lab|
|Gene Name||kallikrein B, plasma 1|
|Synonyms||Klk3, Kal-3, PSA, Kal3|
|Is this an essential gene?||Possibly non essential (E-score: 0.320)|
|Stock #||R2418 (G1)|
|Chromosomal Location||45266689-45294859 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 45289112 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 43 (D43E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026907 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026907]|
|Predicted Effect||possibly damaging
AA Change: D43E
PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: D43E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0672|
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic processing to generate a disulfide-linked heterodimeric enzyme comprised of heavy and light chains. A complete deletion of the encoded protein prevents occlusive thrombus formation in mice with a minimal role in provoked bleeding. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced hematoma expansion in streptozotocin-induced diabetic mice subjected to autologous blood injection, and prolonged activated partial thromboplastin time. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Klkb1||
(F):5'- CAGCCTAGGAGCTTCTGATG -3'
(R):5'- AGACCCGTGAAGTTGTAATGAC -3'
(F):5'- CCTAGGAGCTTCTGATGCAAAG -3'
(R):5'- CCCGTGAAGTTGTAATGACTATTAGG -3'