Incidental Mutation 'R9570:Klk6'
ID 721910
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9570 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43473967-43481219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43477967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 113 (D113G)
Ref Sequence ENSEMBL: ENSMUSP00000103600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107966] [ENSMUST00000107967] [ENSMUST00000107968] [ENSMUST00000177514]
AlphaFold Q91Y82
Predicted Effect probably damaging
Transcript: ENSMUST00000107966
AA Change: D113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103600
Gene: ENSMUSG00000050063
AA Change: D113G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107967
AA Change: D113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103601
Gene: ENSMUSG00000050063
AA Change: D113G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107968
AA Change: D113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103602
Gene: ENSMUSG00000050063
AA Change: D113G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177514
AA Change: D113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135591
Gene: ENSMUSG00000050063
AA Change: D113G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 129 5.07e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C T 8: 41,277,687 (GRCm39) T26I probably benign Het
Adgrg7 A G 16: 56,570,813 (GRCm39) L405P probably damaging Het
Ankle1 A G 8: 71,859,424 (GRCm39) D106G probably damaging Het
Ankrd17 G T 5: 90,401,536 (GRCm39) D1609E Het
Anpep A G 7: 79,476,661 (GRCm39) V772A probably benign Het
Anxa8 T C 14: 33,814,509 (GRCm39) V115A possibly damaging Het
Aoc1 T C 6: 48,882,772 (GRCm39) F216S probably damaging Het
Aplf T A 6: 87,640,781 (GRCm39) E76V possibly damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Arhgap42 T A 9: 9,148,209 (GRCm39) Y120F Het
Atg2a T A 19: 6,305,749 (GRCm39) H1316Q probably benign Het
Atp8b3 A G 10: 80,361,822 (GRCm39) F743S probably benign Het
Best1 A T 19: 9,970,331 (GRCm39) W94R probably damaging Het
Catsper3 T C 13: 55,953,669 (GRCm39) probably null Het
Ccdc80 A T 16: 44,915,449 (GRCm39) E68D probably benign Het
Col8a1 T A 16: 57,448,539 (GRCm39) I324F unknown Het
Coro1c G A 5: 114,003,816 (GRCm39) R68* probably null Het
Dennd4c A G 4: 86,747,208 (GRCm39) D1464G possibly damaging Het
Dgat2 C T 7: 98,818,926 (GRCm39) V77I possibly damaging Het
Ecpas G A 4: 58,832,796 (GRCm39) R855* probably null Het
Ednra A C 8: 78,393,961 (GRCm39) N378K possibly damaging Het
Eif1ad4 A G 12: 87,862,534 (GRCm39) D132G unknown Het
Eml5 A T 12: 98,782,243 (GRCm39) D178E probably benign Het
Ethe1 G T 7: 24,293,236 (GRCm39) probably benign Het
Fgf21 C T 7: 45,264,594 (GRCm39) R46Q probably damaging Het
Flt3 C T 5: 147,309,424 (GRCm39) V198M possibly damaging Het
Fryl T C 5: 73,179,498 (GRCm39) N2970D probably benign Het
Gtf2e2 T A 8: 34,252,076 (GRCm39) D197E probably damaging Het
Gtf2i G A 5: 134,294,627 (GRCm39) R362W probably damaging Het
Gtpbp10 C T 5: 5,596,382 (GRCm39) G188R probably damaging Het
Gzmc A C 14: 56,469,042 (GRCm39) S226A probably benign Het
Hhatl A T 9: 121,613,282 (GRCm39) V471D possibly damaging Het
Hoxd11 T C 2: 74,512,812 (GRCm39) S26P possibly damaging Het
Ighv1-85 A T 12: 115,963,794 (GRCm39) W69R probably benign Het
Kcnk3 T C 5: 30,779,433 (GRCm39) L161P possibly damaging Het
Map3k5 A G 10: 19,876,314 (GRCm39) I158V probably benign Het
Marchf8 T A 6: 116,382,639 (GRCm39) M434K probably benign Het
Mcc T C 18: 44,578,925 (GRCm39) R828G probably damaging Het
Muc4 A T 16: 32,569,695 (GRCm39) T252S possibly damaging Het
Naip5 T C 13: 100,359,821 (GRCm39) T472A probably benign Het
Nme7 A G 1: 164,206,961 (GRCm39) D282G probably benign Het
Npdc1 G T 2: 25,298,312 (GRCm39) A228S probably benign Het
Nrbp1 T A 5: 31,401,272 (GRCm39) S49R probably damaging Het
Ntan1 T C 16: 13,637,248 (GRCm39) V10A possibly damaging Het
Or10a3 A G 7: 108,480,504 (GRCm39) V103A possibly damaging Het
Or10b1 T C 10: 78,356,084 (GRCm39) V214A probably benign Het
Or51b4 A G 7: 103,530,856 (GRCm39) V198A probably benign Het
Pdcd2l T C 7: 33,892,401 (GRCm39) D156G probably benign Het
Pde11a A G 2: 75,877,157 (GRCm39) S771P probably damaging Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Pkd1l1 T A 11: 8,840,697 (GRCm39) E1237V Het
Pkp2 A T 16: 16,078,278 (GRCm39) T507S possibly damaging Het
Polm A G 11: 5,779,713 (GRCm39) Y362H probably damaging Het
Pramel12 A T 4: 143,144,514 (GRCm39) M287L probably benign Het
Prcd C T 11: 116,550,583 (GRCm39) S85F possibly damaging Het
Prox2 G A 12: 85,141,766 (GRCm39) Q146* probably null Het
Ptger1 T C 8: 84,395,461 (GRCm39) W313R probably damaging Het
Ptpn23 T C 9: 110,227,217 (GRCm39) E44G probably damaging Het
Rai1 A G 11: 60,076,568 (GRCm39) T211A probably benign Het
Rgl1 C A 1: 152,430,082 (GRCm39) D234Y possibly damaging Het
Rlf A G 4: 121,007,087 (GRCm39) V741A possibly damaging Het
Rnaseh2b T C 14: 62,597,978 (GRCm39) probably null Het
Selenon C T 4: 134,270,055 (GRCm39) R383H probably benign Het
Sh3rf2 A T 18: 42,272,620 (GRCm39) H368L possibly damaging Het
Slc9c1 A T 16: 45,380,705 (GRCm39) I544L probably benign Het
Smarca4 A G 9: 21,580,849 (GRCm39) E993G probably damaging Het
Stab1 T A 14: 30,864,638 (GRCm39) I1966F probably benign Het
Stard9 G A 2: 120,534,714 (GRCm39) S3657N probably benign Het
Tex15 G A 8: 34,067,309 (GRCm39) M2246I probably damaging Het
Ttc41 A T 10: 86,549,598 (GRCm39) N264I possibly damaging Het
Use1 T A 8: 71,820,473 (GRCm39) M96K possibly damaging Het
Vmn1r201 T C 13: 22,659,236 (GRCm39) I150T probably damaging Het
Vmn1r34 T C 6: 66,614,718 (GRCm39) I7V probably benign Het
Vps8 T A 16: 21,462,953 (GRCm39) F1406Y probably benign Het
Zfp788 A T 7: 41,300,006 (GRCm39) T881S possibly damaging Het
Zfp804a C T 2: 82,088,844 (GRCm39) T891I probably benign 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
R5274:Klk6 UTSW 7 43,478,553 (GRCm39) splice site probably null
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
Z1088:Klk6 UTSW 7 43,477,912 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTTTTACTGAGCTGGGGAAG -3'
(R):5'- ATCAGCATCTCCTTGTGGCC -3'

Sequencing Primer
(F):5'- AGGAGGGTAGGTGCTCTCTC -3'
(R):5'- ATTTACCATCCCACCTCCATCACTAG -3'
Posted On 2022-08-09