Incidental Mutation 'R5274:Klk6'
ID 403820
Institutional Source Beutler Lab
Gene Symbol Klk6
Ensembl Gene ENSMUSG00000050063
Gene Name kallikrein related-peptidase 6
Synonyms protease M, Prss18, neurosin, Klk29, Prss9, Bssp
MMRRC Submission 042837-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5274 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 43473967-43481219 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to G at 43478553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107966] [ENSMUST00000107967] [ENSMUST00000107968] [ENSMUST00000177514]
AlphaFold Q91Y82
Predicted Effect probably null
Transcript: ENSMUST00000107966
SMART Domains Protein: ENSMUSP00000103600
Gene: ENSMUSG00000050063

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107967
SMART Domains Protein: ENSMUSP00000103601
Gene: ENSMUSG00000050063

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107968
SMART Domains Protein: ENSMUSP00000103602
Gene: ENSMUSG00000050063

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177514
SMART Domains Protein: ENSMUSP00000135591
Gene: ENSMUSG00000050063

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 129 5.07e-4 SMART
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 98.0%
  • 20x: 96.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The encoded preproprotein is proteolytically processed to generate the mature protease. Expression of this protease is regulated by steroid hormones and may be elevated in multiple human cancers and in serum from psoriasis patients. The encoded protease may participate in the cleavage of amyloid precursor protein and alpha-synuclein, thus implicating this protease in Alzheimer's and Parkinson's disease, respectively. This gene is located in a gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased mature oligodendrocytes in the developing spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,092,856 (GRCm39) R155H probably benign Het
Ace T C 11: 105,858,863 (GRCm39) M19T probably benign Het
Agl A G 3: 116,566,135 (GRCm39) L995P probably damaging Het
AY761185 T C 8: 21,433,889 (GRCm39) N90S unknown Het
Brca2 T C 5: 150,463,154 (GRCm39) S973P probably benign Het
Cacna1e T C 1: 154,576,250 (GRCm39) T66A probably damaging Het
Cbarp T C 10: 79,967,649 (GRCm39) S531G possibly damaging Het
Cby2 A G 14: 75,820,666 (GRCm39) V362A probably benign Het
Cd96 G T 16: 45,890,066 (GRCm39) T319K possibly damaging Het
Ceacam23 T C 7: 17,649,642 (GRCm39) probably null Het
Chil5 A C 3: 105,936,169 (GRCm39) F41C probably damaging Het
Col24a1 A C 3: 145,190,433 (GRCm39) E1239D probably benign Het
Dip2b A G 15: 100,109,985 (GRCm39) E1490G possibly damaging Het
Dync1li1 T C 9: 114,544,273 (GRCm39) V315A possibly damaging Het
Dync2h1 T C 9: 7,116,540 (GRCm39) S99G probably benign Het
Dynlt5 A T 4: 102,859,768 (GRCm39) T103S possibly damaging Het
E2f8 C T 7: 48,516,925 (GRCm39) R818H probably damaging Het
Eomes T C 9: 118,309,597 (GRCm39) V250A probably damaging Het
Esyt3 T C 9: 99,200,350 (GRCm39) T615A probably benign Het
Fbxo38 A T 18: 62,648,140 (GRCm39) D799E probably damaging Het
Fdft1 A G 14: 63,389,792 (GRCm39) F288S probably damaging Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gm4871 C G 5: 144,967,180 (GRCm39) E185Q probably damaging Het
Gm5901 C A 7: 105,026,655 (GRCm39) P141Q probably damaging Het
Herc1 T A 9: 66,306,691 (GRCm39) I933N probably benign Het
Ifih1 T C 2: 62,442,062 (GRCm39) Q385R probably benign Het
Ighmbp2 T C 19: 3,315,518 (GRCm39) E634G probably damaging Het
Kmt2d A G 15: 98,752,111 (GRCm39) probably benign Het
Lig3 T A 11: 82,688,118 (GRCm39) probably null Het
Lrp1b T C 2: 41,234,456 (GRCm39) D310G probably null Het
Mroh6 A G 15: 75,756,849 (GRCm39) V571A possibly damaging Het
Olfm5 A G 7: 103,809,190 (GRCm39) S132P probably damaging Het
Or52n20 T C 7: 104,320,733 (GRCm39) S275P probably damaging Het
Or5p64 A T 7: 107,854,842 (GRCm39) F168I probably benign Het
Pacc1 T C 1: 191,080,665 (GRCm39) V295A probably damaging Het
Patj G C 4: 98,407,218 (GRCm39) S4T probably damaging Het
Pcdhga12 T A 18: 37,899,475 (GRCm39) C102* probably null Het
Pik3ap1 T C 19: 41,270,391 (GRCm39) D766G possibly damaging Het
Plch2 A T 4: 155,083,411 (GRCm39) L408Q probably damaging Het
Pnma2 G T 14: 67,154,209 (GRCm39) R211L probably damaging Het
Prkg2 T A 5: 99,117,850 (GRCm39) H468L probably damaging Het
Rad1 T A 15: 10,488,059 (GRCm39) probably null Het
Rims3 A G 4: 120,748,571 (GRCm39) D264G probably damaging Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rrm2 T A 12: 24,760,406 (GRCm39) Y75* probably null Het
Sall3 T C 18: 81,013,052 (GRCm39) N1128S probably benign Het
Slc26a5 T C 5: 22,018,899 (GRCm39) T610A possibly damaging Het
Snx29 G T 16: 11,556,268 (GRCm39) E766D probably damaging Het
Sox17 A G 1: 4,562,111 (GRCm39) V298A possibly damaging Het
Ss18 G A 18: 14,774,106 (GRCm39) Q228* probably null Het
Tas2r121 A G 6: 132,677,811 (GRCm39) S54P probably damaging Het
Ttc21b T C 2: 66,066,627 (GRCm39) E342G possibly damaging Het
Ubap2l A G 3: 89,920,037 (GRCm39) Y818H probably damaging Het
Usp15 C A 10: 123,004,256 (GRCm39) R166I probably damaging Het
Vmn1r34 T G 6: 66,614,123 (GRCm39) H205P probably damaging Het
Vmn2r22 A T 6: 123,627,593 (GRCm39) M1K probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zdhhc1 T C 8: 106,210,402 (GRCm39) N5S probably benign Het
Zfp758 T A 17: 22,594,836 (GRCm39) C441S probably benign Het
Zp2 T C 7: 119,737,315 (GRCm39) E291G possibly damaging Het
Other mutations in Klk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02691:Klk6 APN 7 43,477,924 (GRCm39) missense probably benign 0.03
R0382:Klk6 UTSW 7 43,478,669 (GRCm39) missense probably benign 0.03
R0453:Klk6 UTSW 7 43,477,963 (GRCm39) missense probably damaging 1.00
R1479:Klk6 UTSW 7 43,481,058 (GRCm39) missense probably benign 0.03
R1521:Klk6 UTSW 7 43,478,699 (GRCm39) critical splice donor site probably null
R1772:Klk6 UTSW 7 43,478,695 (GRCm39) nonsense probably null
R1902:Klk6 UTSW 7 43,475,481 (GRCm39) start codon destroyed probably benign 0.03
R4238:Klk6 UTSW 7 43,478,597 (GRCm39) missense probably benign 0.02
R4239:Klk6 UTSW 7 43,478,597 (GRCm39) missense probably benign 0.02
R4240:Klk6 UTSW 7 43,478,597 (GRCm39) missense probably benign 0.02
R5182:Klk6 UTSW 7 43,478,084 (GRCm39) missense probably benign 0.16
R6776:Klk6 UTSW 7 43,476,298 (GRCm39) missense probably damaging 1.00
R7411:Klk6 UTSW 7 43,476,367 (GRCm39) missense probably damaging 1.00
R7702:Klk6 UTSW 7 43,478,689 (GRCm39) missense probably damaging 0.98
R8035:Klk6 UTSW 7 43,478,086 (GRCm39) missense probably benign 0.00
R8828:Klk6 UTSW 7 43,478,062 (GRCm39) missense probably damaging 1.00
R8828:Klk6 UTSW 7 43,478,061 (GRCm39) missense
R8990:Klk6 UTSW 7 43,476,254 (GRCm39) missense probably benign 0.05
R9316:Klk6 UTSW 7 43,477,912 (GRCm39) missense probably benign 0.00
R9570:Klk6 UTSW 7 43,477,967 (GRCm39) missense probably damaging 1.00
Z1088:Klk6 UTSW 7 43,477,912 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGAGGAGTTGGACCAAATGTG -3'
(R):5'- TCAGATCTCTGGTCTCGGTC -3'

Sequencing Primer
(F):5'- TTATGATTAGTGAGGAAGTCAGACC -3'
(R):5'- TCGGTCTTACCTGACAGGAATCG -3'
Posted On 2016-07-22