|Institutional Source||Beutler Lab|
|Gene Name||kallikrein related-peptidase 4 (prostase, enamel matrix, prostate)|
|Synonyms||ESMP1, Prss17, KLK-L1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4552 (G1)|
|Chromosomal Location||43881160-43885804 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 43884019 bp|
|Amino Acid Change||Histidine to Asparagine at position 101 (H101N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007161 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007161]|
|Predicted Effect||probably benign
AA Change: H101N
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: H101N
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (62/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced enamel strength that leads to enamel fracturing, delayed postnatal growth, and decreased survival to maturity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Klk4||
(F):5'- CAAGTGGCCACAGTGTTGAG -3'
(R):5'- CAGCAGCTTACCATTCTTTAGTTG -3'
(F):5'- CCTAAGGGACAGGGCAGTC -3'
(R):5'- GTTGACCCCAACCAGAGACTAGG -3'