Incidental Mutation 'R4239:Klk6'
ID 321255
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 041056-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4239 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43473967-43481219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43478597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 168 (H168R)
Ref Sequence ENSEMBL: ENSMUSP00000103602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107966] [ENSMUST00000107967] [ENSMUST00000107968] [ENSMUST00000177514]
AlphaFold Q91Y82
Predicted Effect probably benign
Transcript: ENSMUST00000107966
AA Change: H168R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103600
Gene: ENSMUSG00000050063
AA Change: H168R

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: H168R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103601
Gene: ENSMUSG00000050063
AA Change: H168R

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: H168R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103602
Gene: ENSMUSG00000050063
AA Change: H168R

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
Meta Mutation Damage Score 0.0735 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (55/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
Alpk2 T A 18: 65,433,212 (GRCm39) I1765F probably damaging Het
Ano5 T A 7: 51,237,414 (GRCm39) I696N probably damaging Het
Areg A T 5: 91,291,375 (GRCm39) N106I probably damaging Het
Atad2b A G 12: 5,035,710 (GRCm39) N759D probably benign Het
B4galnt4 T C 7: 140,641,239 (GRCm39) L18P probably damaging Het
Boc T C 16: 44,312,247 (GRCm39) D605G probably damaging Het
Cfap46 G T 7: 139,246,203 (GRCm39) Q387K possibly damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Clip2 A G 5: 134,564,051 (GRCm39) probably benign Het
Cog4 T C 8: 111,585,244 (GRCm39) I303T probably damaging Het
Col18a1 C T 10: 76,932,001 (GRCm39) V363I unknown Het
Crip3 A T 17: 46,742,156 (GRCm39) K184* probably null Het
Ddi1 A G 9: 6,265,799 (GRCm39) M190T probably benign Het
Dnah3 G A 7: 119,628,248 (GRCm39) Q1459* probably null Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Ehhadh T G 16: 21,581,438 (GRCm39) D518A probably damaging Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fbxl3 G A 14: 103,326,854 (GRCm39) S176L probably damaging Het
Gm1979 T C 5: 26,206,119 (GRCm39) T154A probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Gtf2h1 C T 7: 46,454,489 (GRCm39) A157V probably benign Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ifi214 A T 1: 173,352,509 (GRCm39) S307T possibly damaging Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
Large2 A G 2: 92,196,950 (GRCm39) probably benign Het
Myo5c T C 9: 75,191,224 (GRCm39) I1086T probably benign Het
Nes C A 3: 87,886,666 (GRCm39) P1598T probably damaging Het
Or13a25 A G 7: 140,247,496 (GRCm39) N99D probably benign Het
Or51f1d T C 7: 102,701,003 (GRCm39) V166A probably benign Het
Or5g25 T A 2: 85,478,647 (GRCm39) Q6L probably damaging Het
Otud7a A G 7: 63,300,702 (GRCm39) D47G probably damaging Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Plcb1 A T 2: 135,186,078 (GRCm39) I682F probably damaging Het
Plcz1 T A 6: 139,986,344 (GRCm39) probably null Het
Prl7a1 T A 13: 27,821,549 (GRCm39) Q129L possibly damaging Het
Prrt4 T C 6: 29,170,163 (GRCm39) Y763C probably damaging Het
Psma7 T C 2: 179,681,304 (GRCm39) probably benign Het
Serpinb6b G C 13: 33,156,246 (GRCm39) C112S probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Slc35f5 G A 1: 125,500,211 (GRCm39) A242T possibly damaging Het
Speer4b T C 5: 27,706,311 (GRCm39) R19G probably benign Het
Trank1 A G 9: 111,196,103 (GRCm39) I1376V probably benign Het
Trbv12-2 A G 6: 41,095,831 (GRCm39) N12D probably benign Het
Uba7 T C 9: 107,854,001 (GRCm39) probably null Het
Upf3a A G 8: 13,846,591 (GRCm39) R324G probably benign Het
Usp46 T G 5: 74,192,928 (GRCm39) probably benign Het
Vmn2r14 T G 5: 109,364,277 (GRCm39) probably null Het
Wbp2 G A 11: 115,971,373 (GRCm39) probably benign Het
Wdpcp T A 11: 21,645,269 (GRCm39) N232K probably damaging Het
Wdpcp T A 11: 21,645,271 (GRCm39) M233K probably benign Het
Zfp157 A G 5: 138,445,803 (GRCm39) I53V 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
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
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'- GCCATTTGGGAGACAGTGAC -3'
(R):5'- ACACGTGTGAGGTGGATTCTC -3'

Sequencing Primer
(F):5'- CAGTGACAAGGAAAGCGATCC -3'
(R):5'- AGTGTCCTCTCAGGCTGAC -3'
Posted On 2015-06-12