Incidental Mutation 'R7995:Klk4'
ID 616024
Institutional Source Beutler Lab
Gene Symbol Klk4
Ensembl Gene ENSMUSG00000006948
Gene Name kallikrein related-peptidase 4 (prostase, enamel matrix, prostate)
Synonyms ESMP1, KLK-L1, Prss17
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7995 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43530584-43535228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43533010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 32 (I32N)
Ref Sequence ENSEMBL: ENSMUSP00000007161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007161]
AlphaFold Q9Z0M1
Predicted Effect probably damaging
Transcript: ENSMUST00000007161
AA Change: I32N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000007161
Gene: ENSMUSG00000006948
AA Change: I32N

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Tryp_SPc 31 248 2.42e-82 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype 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
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,528 (GRCm39) T137S unknown Het
Apbb1 T C 7: 105,214,852 (GRCm39) D462G probably benign Het
Arhgef1 T G 7: 24,618,641 (GRCm39) L387R probably damaging Het
Ass1 A G 2: 31,376,552 (GRCm39) I139V probably benign Het
B4galt5 A G 2: 167,143,296 (GRCm39) V376A probably damaging Het
Bdkrb1 A G 12: 105,571,379 (GRCm39) N315S probably damaging Het
Brap A T 5: 121,820,909 (GRCm39) I429L probably benign Het
Capn2 A G 1: 182,306,111 (GRCm39) probably null Het
Car10 A G 11: 93,487,948 (GRCm39) Y215C probably damaging Het
Ccdc102a T C 8: 95,634,495 (GRCm39) T365A probably damaging Het
Cdc42ep1 A G 15: 78,731,696 (GRCm39) H47R probably damaging Het
Celsr3 G A 9: 108,722,282 (GRCm39) S2734N probably damaging Het
Cers5 A C 15: 99,638,823 (GRCm39) probably null Het
Cfap43 T C 19: 47,886,462 (GRCm39) E51G probably damaging Het
Cftr T A 6: 18,214,155 (GRCm39) D110E probably damaging Het
Cimap2 T A 4: 106,473,112 (GRCm39) H57L probably benign Het
Cntnap5a A G 1: 116,499,277 (GRCm39) K1176E probably damaging Het
Dlx6 A T 6: 6,867,277 (GRCm39) R293S probably damaging Het
Dnah2 A T 11: 69,411,563 (GRCm39) F353Y possibly damaging Het
Dnajc13 A T 9: 104,051,562 (GRCm39) I1765N probably damaging Het
Ercc6 G T 14: 32,284,526 (GRCm39) R763L probably damaging Het
Furin T C 7: 80,045,195 (GRCm39) N243S probably damaging Het
Hace1 A G 10: 45,465,588 (GRCm39) E48G probably damaging Het
Kcnv1 G A 15: 44,972,743 (GRCm39) T380I probably damaging Het
Lingo2 T C 4: 35,709,425 (GRCm39) E185G probably damaging Het
Lrba T A 3: 86,526,858 (GRCm39) W2239R probably damaging Het
Mical2 T A 7: 111,980,975 (GRCm39) D316E probably benign Het
Mlh1 G T 9: 111,064,989 (GRCm39) N555K probably damaging Het
Mroh2b G A 15: 4,950,839 (GRCm39) W579* probably null Het
Mycs G A X: 5,380,858 (GRCm39) P74L probably damaging Het
Or5p62 A T 7: 107,771,207 (GRCm39) L248H probably damaging Het
Or6c1 T C 10: 129,518,509 (GRCm39) Y33C probably damaging Het
Pak2 T C 16: 31,846,590 (GRCm39) I365V possibly damaging Het
Pcdhga11 C A 18: 37,890,078 (GRCm39) S362* probably null Het
Pdk4 C T 6: 5,487,093 (GRCm39) V318M probably benign Het
Phc2 C T 4: 128,603,401 (GRCm39) T177M probably damaging Het
Phldb1 A T 9: 44,626,669 (GRCm39) L592Q probably damaging Het
Pigr A G 1: 130,769,423 (GRCm39) Y78C probably damaging Het
Pnkp T A 7: 44,507,960 (GRCm39) Y94* probably null Het
Polr2b T C 5: 77,473,614 (GRCm39) V310A possibly damaging Het
Pramel21 A G 4: 143,342,570 (GRCm39) I226V possibly damaging Het
Prl7d1 T A 13: 27,894,054 (GRCm39) I171L probably benign Het
Rpusd4 A G 9: 35,184,017 (GRCm39) Y224C probably damaging Het
Scara5 C A 14: 65,997,057 (GRCm39) R390S possibly damaging Het
Scin C T 12: 40,129,804 (GRCm39) V330I probably benign Het
Sdr42e1 T A 8: 118,390,007 (GRCm39) R211S probably benign Het
Slc36a3 C A 11: 55,020,495 (GRCm39) A292S probably benign Het
Spata31d1a T C 13: 59,848,924 (GRCm39) D1068G probably benign Het
Srd5a1 T A 13: 69,759,338 (GRCm39) D10V probably damaging Het
Sspo G T 6: 48,469,823 (GRCm39) C4507F probably damaging Het
Tmem94 G A 11: 115,688,797 (GRCm39) E1335K probably damaging Het
Tnfrsf13b C T 11: 61,031,742 (GRCm39) Q28* probably null Het
Tspan3 A T 9: 56,054,438 (GRCm39) F88I probably benign Het
Ttn T C 2: 76,592,519 (GRCm39) K20871R probably benign Het
Ube2j2 C A 4: 156,041,795 (GRCm39) Y263* probably null Het
Vcan T C 13: 89,839,977 (GRCm39) T1856A probably benign Het
Vrk3 T C 7: 44,413,585 (GRCm39) L218P probably damaging Het
Zfp236 G T 18: 82,657,461 (GRCm39) H761N probably damaging Het
Zfp462 C A 4: 55,011,907 (GRCm39) A1291E probably damaging Het
Zfp827 T A 8: 79,844,887 (GRCm39) S686T possibly damaging Het
Other mutations in Klk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0200:Klk4 UTSW 7 43,534,785 (GRCm39) missense probably damaging 1.00
R0385:Klk4 UTSW 7 43,533,432 (GRCm39) missense probably benign 0.02
R1381:Klk4 UTSW 7 43,534,706 (GRCm39) missense probably damaging 1.00
R4329:Klk4 UTSW 7 43,533,830 (GRCm39) missense probably damaging 1.00
R4552:Klk4 UTSW 7 43,533,443 (GRCm39) missense probably benign
R4600:Klk4 UTSW 7 43,534,762 (GRCm39) missense probably damaging 1.00
R6023:Klk4 UTSW 7 43,533,482 (GRCm39) missense probably benign 0.00
R7164:Klk4 UTSW 7 43,531,122 (GRCm39) missense possibly damaging 0.87
R9188:Klk4 UTSW 7 43,534,797 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GATTCATAGCTTGTTTCCAGTCTCG -3'
(R):5'- TGTGATATTGAAACCCCTCCCC -3'

Sequencing Primer
(F):5'- GTTTCCAGTCTCGACCCTAC -3'
(R):5'- GATATTGAAACCCCTCCCCTCAGC -3'
Posted On 2020-01-23