Incidental Mutation 'R4329:Klk4'
ID 324518
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
MMRRC Submission 041663-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4329 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43530584-43535228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43533830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 202 (D202G)
Ref Sequence ENSEMBL: ENSMUSP00000007161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007161]
AlphaFold Q9Z0M1
Predicted Effect probably damaging
Transcript: ENSMUST00000007161
AA Change: D202G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007161
Gene: ENSMUSG00000006948
AA Change: D202G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Tryp_SPc 31 248 2.42e-82 SMART
Meta Mutation Damage Score 0.5804 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 96% (68/71)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C A 5: 113,243,455 (GRCm39) probably null Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Ampd2 C A 3: 107,985,103 (GRCm39) probably benign Het
Ang2 A T 14: 51,433,325 (GRCm39) I19N possibly damaging Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
Cacna1s A C 1: 136,046,771 (GRCm39) D1819A probably benign Het
Cand2 C A 6: 115,776,949 (GRCm39) H1112Q possibly damaging Het
Catsperd T A 17: 56,961,517 (GRCm39) I413K possibly damaging Het
Ccdc142 T A 6: 83,083,997 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Celsr3 C T 9: 108,723,248 (GRCm39) R2847C probably benign Het
Cep290 C T 10: 100,373,530 (GRCm39) S1270L probably damaging Het
Chka T C 19: 3,925,803 (GRCm39) probably benign Het
Cntnap5b T A 1: 99,999,888 (GRCm39) D215E probably damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Cspg4 T C 9: 56,799,749 (GRCm39) F1539L probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Dchs1 A T 7: 105,402,966 (GRCm39) I3192N probably damaging Het
Dnah7c T A 1: 46,688,441 (GRCm39) D1870E probably benign Het
Drc1 A T 5: 30,513,002 (GRCm39) I359L probably benign Het
Esp1 A G 17: 41,039,768 (GRCm39) M18V probably benign Het
Exoc1 T A 5: 76,715,822 (GRCm39) F789L probably damaging Het
Fbxw22 T A 9: 109,213,111 (GRCm39) T279S probably damaging Het
Frem1 G A 4: 82,904,774 (GRCm39) A880V probably benign Het
Gm29514 A G 1: 146,296,429 (GRCm39) noncoding transcript Het
Grm7 T C 6: 110,891,325 (GRCm39) L186P probably damaging Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Marchf6 C T 15: 31,498,887 (GRCm39) E137K probably benign Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,861 (GRCm39) Y808N probably damaging Het
Myom1 C T 17: 71,343,348 (GRCm39) L182F probably damaging Het
Nova1 A T 12: 46,767,615 (GRCm39) I102N unknown Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Patl2 C T 2: 121,958,018 (GRCm39) S80N probably benign Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Pdgfrb A T 18: 61,204,792 (GRCm39) I551F possibly damaging Het
Pkmyt1 T A 17: 23,951,709 (GRCm39) Y88N probably damaging Het
Pnkp T C 7: 44,508,018 (GRCm39) S114P probably benign Het
Rdm1 T A 11: 101,521,734 (GRCm39) V92E probably damaging Het
Sema4d T C 13: 51,857,340 (GRCm39) R631G probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Skint9 A C 4: 112,249,062 (GRCm39) L122R probably damaging Het
Slc16a13 T C 11: 70,108,723 (GRCm39) N369S probably benign Het
Strada A G 11: 106,077,999 (GRCm39) probably benign Het
Tnxb C A 17: 34,912,838 (GRCm39) S1784Y probably damaging Het
Trpc2 T C 7: 101,736,727 (GRCm39) V318A probably damaging Het
Ttc3 G A 16: 94,267,820 (GRCm39) R1589H probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Unc5b A G 10: 60,618,969 (GRCm39) Y58H probably damaging Het
Xylt1 G A 7: 117,255,684 (GRCm39) G752D probably damaging Het
Yipf7 A T 5: 69,678,465 (GRCm39) L55Q probably damaging Het
Zfp827 G A 8: 79,916,463 (GRCm39) probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) probably benign 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
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
R7995:Klk4 UTSW 7 43,533,010 (GRCm39) missense probably damaging 1.00
R9188:Klk4 UTSW 7 43,534,797 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAGAAGTTCCCCACACAGC -3'
(R):5'- GAACCACTATGCCTGGCTTC -3'

Sequencing Primer
(F):5'- GCCAAAATGGACTGACCCTC -3'
(R):5'- AGAAAGGGTCTCACTGTGTATATCTG -3'
Posted On 2015-06-24