Incidental Mutation 'R5182:Klk6'
ID 397614
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 042853-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5182 (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 43478084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 152 (K152R)
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: K152R

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103600
Gene: ENSMUSG00000050063
AA Change: K152R

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: K152R

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103601
Gene: ENSMUSG00000050063
AA Change: K152R

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: K152R

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103602
Gene: ENSMUSG00000050063
AA Change: K152R

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 0.0838 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (66/66)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik A G 19: 21,608,129 (GRCm39) M1T probably null Het
Abcg8 T C 17: 85,000,172 (GRCm39) L243P probably damaging Het
Ankrd27 A G 7: 35,327,912 (GRCm39) T811A probably damaging Het
Auts2 T C 5: 131,503,919 (GRCm39) N188S probably null Het
Bak1 G A 17: 27,241,722 (GRCm39) P65L possibly damaging Het
Cep350 A C 1: 155,733,854 (GRCm39) L3013R probably damaging Het
Clca3b A G 3: 144,533,776 (GRCm39) I533T probably damaging Het
Col6a5 C A 9: 105,734,531 (GRCm39) E2637* probably null Het
Coq5 G A 5: 115,417,815 (GRCm39) R15H probably benign Het
Dnah5 T G 15: 28,311,424 (GRCm39) I1801S probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Dpf3 T C 12: 83,417,370 (GRCm39) E34G probably damaging Het
Dst C A 1: 34,218,167 (GRCm39) Q1536K probably benign Het
Eeig2 T C 3: 108,892,667 (GRCm39) K173E possibly damaging Het
Eng T C 2: 32,562,971 (GRCm39) probably null Het
Fignl1 A T 11: 11,751,717 (GRCm39) I446N probably damaging Het
Fras1 C A 5: 96,784,032 (GRCm39) C845* probably null Het
Gfm2 T C 13: 97,299,401 (GRCm39) V347A probably damaging Het
Gpld1 A T 13: 25,168,053 (GRCm39) probably null Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Gsdmc4 C A 15: 63,765,653 (GRCm39) V299F probably damaging Het
Hrnr A T 3: 93,239,450 (GRCm39) R3229S unknown Het
Icam5 A G 9: 20,946,106 (GRCm39) T313A probably benign Het
Ift172 T A 5: 31,424,958 (GRCm39) D668V possibly damaging Het
Kdm5a T A 6: 120,365,066 (GRCm39) C322* probably null Het
Man1a2 A C 3: 100,554,333 (GRCm39) I250S probably damaging Het
Nkpd1 A G 7: 19,257,181 (GRCm39) Y170C probably damaging Het
Nmd3 T A 3: 69,629,801 (GRCm39) probably null Het
Or2y3 A G 17: 38,393,005 (GRCm39) M288T probably benign Het
Or51f1 A T 7: 102,506,176 (GRCm39) D104E probably benign Het
Pax4 C T 6: 28,444,368 (GRCm39) E229K probably benign Het
Pdc T C 1: 150,209,105 (GRCm39) I196T possibly damaging Het
Pld1 T C 3: 28,099,230 (GRCm39) I299T probably damaging Het
Pnma1 T C 12: 84,193,819 (GRCm39) I295V probably benign Het
Prkg2 T A 5: 99,172,568 (GRCm39) Y49F probably benign Het
Psmd12 T C 11: 107,370,485 (GRCm39) L28P probably damaging Het
Ptprg A G 14: 12,154,174 (GRCm38) T632A probably benign Het
Rab43 A G 6: 87,771,637 (GRCm39) *118R probably null Het
Rabep1 C T 11: 70,795,454 (GRCm39) R227* probably null Het
Rad51c T G 11: 87,288,545 (GRCm39) I213L possibly damaging Het
Ranbp17 A T 11: 33,169,287 (GRCm39) probably benign Het
Ryr3 T C 2: 112,585,495 (GRCm39) E2735G probably damaging Het
Sdc3 A G 4: 130,548,995 (GRCm39) probably benign Het
Sirpa G A 2: 129,457,652 (GRCm39) R242H possibly damaging Het
Slc12a4 G A 8: 106,671,238 (GRCm39) T983M probably damaging Het
Snx7 A G 3: 117,626,506 (GRCm39) Y252H probably damaging Het
St18 C T 1: 6,887,877 (GRCm39) T482I probably benign Het
St7 A G 6: 17,846,236 (GRCm39) Y163C probably damaging Het
Tas2r140 A T 6: 40,468,866 (GRCm39) Q232L probably benign Het
Tgm6 A T 2: 129,983,222 (GRCm39) K270N probably damaging Het
Tiam2 G A 17: 3,488,996 (GRCm39) G768D probably damaging Het
Ttn C T 2: 76,700,773 (GRCm39) probably benign Het
Ube4b A C 4: 149,465,699 (GRCm39) S250R probably null Het
Ubxn2a G A 12: 4,930,634 (GRCm39) A242V probably damaging Het
Usp10 G A 8: 120,683,420 (GRCm39) V764I possibly damaging Het
Vmn1r222 A G 13: 23,416,667 (GRCm39) L182P probably damaging Het
Vmn2r114 A G 17: 23,510,632 (GRCm39) V616A probably damaging Het
Vps13a A G 19: 16,672,863 (GRCm39) V1303A possibly damaging Het
Wnk2 G T 13: 49,214,637 (GRCm39) T1315K possibly damaging Het
Zfp936 G A 7: 42,839,331 (GRCm39) C266Y probably damaging Het
Zscan20 G T 4: 128,480,504 (GRCm39) N662K 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
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'- GGCAAATCTCAGTGGACAGG -3'
(R):5'- GCCTATCCACATTTGGTCCAAC -3'

Sequencing Primer
(F):5'- ATCTCAGTGGACAGGACTATTGTC -3'
(R):5'- ACATTTGGTCCAACTCCTCAAC -3'
Posted On 2016-07-06