Incidental Mutation 'R8035:Klk6'
ID 618185
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 067472-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8035 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43473967-43481219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43478086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 153 (M153V)
Ref Sequence ENSEMBL: ENSMUSP00000103600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107966] [ENSMUST00000107967] [ENSMUST00000107968] [ENSMUST00000177514]
AlphaFold Q91Y82
Predicted Effect probably benign
Transcript: ENSMUST00000107966
AA Change: M153V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103600
Gene: ENSMUSG00000050063
AA Change: M153V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107967
AA Change: M153V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103601
Gene: ENSMUSG00000050063
AA Change: M153V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107968
AA Change: M153V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103602
Gene: ENSMUSG00000050063
AA Change: M153V

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,530,243 (GRCm39) V938A probably damaging Het
Acot7 A G 4: 152,337,611 (GRCm39) T254A possibly damaging Het
Ankle2 C T 5: 110,402,318 (GRCm39) R943C probably damaging Het
Arrdc2 T C 8: 71,292,026 (GRCm39) K7R probably benign Het
Arsi T A 18: 61,049,442 (GRCm39) H108Q probably damaging Het
Asap3 T C 4: 135,968,514 (GRCm39) Y689H probably benign Het
Bnip3 G A 7: 138,493,666 (GRCm39) T181I probably damaging Het
C87436 T C 6: 86,424,337 (GRCm39) S290P probably benign Het
Ccdc168 A G 1: 44,100,711 (GRCm39) V129A possibly damaging Het
Ccdc6 A G 10: 69,933,331 (GRCm39) I68V probably benign Het
Ccr3 T C 9: 123,829,012 (GRCm39) F116L probably benign Het
Cdh9 G T 15: 16,831,152 (GRCm39) V330F probably damaging Het
Cdkn1a T C 17: 29,318,350 (GRCm39) C155R possibly damaging Het
Ctr9 C T 7: 110,633,664 (GRCm39) A165V probably damaging Het
Cyp2b19 G A 7: 26,470,675 (GRCm39) G439R probably damaging Het
Fam161b A T 12: 84,395,430 (GRCm39) D504E probably damaging Het
Fdps G T 3: 89,002,783 (GRCm39) P122T probably benign Het
Fmn2 T C 1: 174,547,437 (GRCm39) Y1454H probably damaging Het
Gipc2 T C 3: 151,799,866 (GRCm39) E288G probably damaging Het
Gm21411 A C 4: 146,982,167 (GRCm39) probably null Het
Hnrnpc C T 14: 52,321,719 (GRCm39) D32N possibly damaging Het
Hspa12b T A 2: 130,982,859 (GRCm39) I239N probably damaging Het
Hspb8 T C 5: 116,553,485 (GRCm39) N138D probably damaging Het
Igkv4-69 T C 6: 69,260,921 (GRCm39) I69V possibly damaging Het
Itih1 A C 14: 30,664,482 (GRCm39) D81E probably benign Het
Kdm3b T C 18: 34,941,781 (GRCm39) L624S probably damaging Het
Lgals9 A T 11: 78,854,302 (GRCm39) Y327* probably null Het
Lims1 T A 10: 58,246,263 (GRCm39) probably benign Het
Lrp1b T A 2: 40,750,667 (GRCm39) I3080F Het
Mars2 C T 1: 55,277,456 (GRCm39) T353I possibly damaging Het
Matn4 T C 2: 164,238,960 (GRCm39) N307S probably damaging Het
Mettl17 C T 14: 52,128,947 (GRCm39) H406Y probably damaging Het
Mtor T A 4: 148,630,856 (GRCm39) M2271K probably benign Het
Mtrex T C 13: 113,035,336 (GRCm39) E539G probably benign Het
Myt1 T C 2: 181,437,532 (GRCm39) L81P probably damaging Het
Or56a3b T A 7: 104,770,757 (GRCm39) L31H probably damaging Het
Or5b118 T C 19: 13,449,263 (GRCm39) F310L probably benign Het
Or6k4 A T 1: 173,964,490 (GRCm39) Y60F probably damaging Het
Or8b38 C T 9: 37,972,961 (GRCm39) T115I probably damaging Het
Pbrm1 A G 14: 30,806,109 (GRCm39) K1030R probably damaging Het
Rap1gds1 A T 3: 138,721,311 (GRCm39) D119E probably damaging Het
Rgs9 A G 11: 109,164,150 (GRCm39) I151T probably benign Het
Slc26a7 A C 4: 14,621,338 (GRCm39) M16R possibly damaging Het
Slx4ip T G 2: 136,885,945 (GRCm39) Y88* probably null Het
Sppl2c T A 11: 104,078,192 (GRCm39) W331R probably benign Het
Srcap T C 7: 127,141,784 (GRCm39) S1855P probably benign Het
Svs5 A G 2: 164,079,053 (GRCm39) F285L probably benign Het
Tjp1 G T 7: 64,992,450 (GRCm39) A76E probably benign Het
Trip13 G C 13: 74,061,373 (GRCm39) A430G probably benign Het
Trpm6 A G 19: 18,770,226 (GRCm39) E337G probably damaging Het
Tut7 A T 13: 59,937,004 (GRCm39) N1214K probably benign Het
Vmn1r37 T A 6: 66,708,377 (GRCm39) M1K probably null Het
Wdr72 T G 9: 74,086,783 (GRCm39) probably benign Het
Zfp583 T C 7: 6,319,771 (GRCm39) K414E probably damaging Het
Zfp940 A C 7: 29,544,948 (GRCm39) S320A probably benign Het
Zfp979 A C 4: 147,697,763 (GRCm39) C315W probably 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
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
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'- TCCAAAGGCAAATCTCAGTGG -3'
(R):5'- ACATTTGGTCCAACTCCTCAAC -3'

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