Incidental Mutation 'R0056:Klk7'
ID 18435
Institutional Source Beutler Lab
Gene Symbol Klk7
Ensembl Gene ENSMUSG00000030713
Gene Name kallikrein related-peptidase 7 (chymotryptic, stratum corneum)
Synonyms Prss6
MMRRC Submission 038350-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0056 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 43460718-43465783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43461434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 17 (L17P)
Ref Sequence ENSEMBL: ENSMUSP00000032955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032955]
AlphaFold Q91VE3
Predicted Effect possibly damaging
Transcript: ENSMUST00000032955
AA Change: L17P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032955
Gene: ENSMUSG00000030713
AA Change: L17P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 25 241 1.47e-90 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
MGI Phenotype FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,540 (GRCm39) C561* probably null Het
Ankfn1 A G 11: 89,282,502 (GRCm39) S1061P possibly damaging Het
Atp9b A G 18: 80,809,018 (GRCm39) S634P probably damaging Het
Bche A T 3: 73,608,654 (GRCm39) N257K possibly damaging Het
Bms1 A T 6: 118,382,190 (GRCm39) D449E probably benign Het
C630050I24Rik G T 8: 107,846,026 (GRCm39) V59F unknown Het
Camkk2 C T 5: 122,880,261 (GRCm39) E452K probably damaging Het
Ccdc121rt1 T C 1: 181,338,118 (GRCm39) Y278C probably damaging Het
Chd9 A G 8: 91,660,165 (GRCm39) H375R possibly damaging Het
Entpd7 T A 19: 43,713,733 (GRCm39) V364E probably benign Het
Epb41l3 A T 17: 69,560,392 (GRCm39) D313V probably damaging Het
Etv6 G T 6: 134,225,497 (GRCm39) E154* probably null Het
Fshr T G 17: 89,295,885 (GRCm39) H274P probably damaging Het
G3bp1 A G 11: 55,388,867 (GRCm39) N360D probably benign Het
Gdf11 C T 10: 128,722,294 (GRCm39) R187H probably benign Het
Gpihbp1 T A 15: 75,468,982 (GRCm39) I52N probably damaging Het
H1f8 G T 6: 115,923,934 (GRCm39) probably benign Het
Htt T C 5: 34,983,422 (GRCm39) probably benign Het
Iqcm A G 8: 76,480,014 (GRCm39) Q324R probably benign Het
Kcng3 A G 17: 83,895,185 (GRCm39) L427P probably damaging Het
Klrd1 G A 6: 129,570,738 (GRCm39) V50I probably benign Het
Lama5 A T 2: 179,828,899 (GRCm39) probably benign Het
Lamtor3 T A 3: 137,632,711 (GRCm39) probably benign Het
Lyplal1 G A 1: 185,820,763 (GRCm39) T228I probably benign Het
Mapk6 A G 9: 75,296,098 (GRCm39) Y467H possibly damaging Het
Marchf6 T C 15: 31,467,880 (GRCm39) T776A possibly damaging Het
Mogat1 T G 1: 78,500,407 (GRCm39) M157R probably damaging Het
Morc2b T A 17: 33,357,733 (GRCm39) Q13L possibly damaging Het
Myo1h C T 5: 114,468,273 (GRCm39) T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 (GRCm38) probably null Het
Nobox A G 6: 43,281,853 (GRCm39) C407R probably benign Het
Nup58 A G 14: 60,476,924 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,329 (GRCm39) S187P probably benign Het
Otoa A G 7: 120,730,570 (GRCm39) Y590C probably benign Het
Pelp1 A T 11: 70,284,658 (GRCm39) V1070E unknown Het
Pglyrp3 G T 3: 91,933,111 (GRCm39) probably benign Het
Plpp2 A G 10: 79,363,063 (GRCm39) F189S probably damaging Het
Polr2b T C 5: 77,482,382 (GRCm39) I640T possibly damaging Het
Ryr2 T A 13: 11,683,924 (GRCm39) T3047S probably damaging Het
Snx25 A T 8: 46,491,550 (GRCm39) W847R probably damaging Het
Son T C 16: 91,475,043 (GRCm39) Y454H possibly damaging Het
Sos1 A T 17: 80,721,050 (GRCm39) N923K probably damaging Het
Tex15 A G 8: 34,072,055 (GRCm39) H2534R probably benign Het
Ticam2 G T 18: 46,693,401 (GRCm39) Q229K possibly damaging Het
Tnfaip3 A T 10: 18,881,041 (GRCm39) V342E probably damaging Het
Traf6 A G 2: 101,527,496 (GRCm39) I415M possibly damaging Het
Trpm1 A G 7: 63,893,334 (GRCm39) D1062G probably damaging Het
Wdr59 C T 8: 112,207,239 (GRCm39) probably benign Het
Other mutations in Klk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1777:Klk7 UTSW 7 43,462,753 (GRCm39) missense probably damaging 1.00
R6791:Klk7 UTSW 7 43,462,684 (GRCm39) missense probably benign 0.09
R7313:Klk7 UTSW 7 43,462,299 (GRCm39) missense probably damaging 1.00
R7399:Klk7 UTSW 7 43,461,424 (GRCm39) missense probably benign 0.18
R7549:Klk7 UTSW 7 43,462,197 (GRCm39) splice site probably null
R7867:Klk7 UTSW 7 43,462,333 (GRCm39) missense probably damaging 1.00
R9325:Klk7 UTSW 7 43,461,437 (GRCm39) missense possibly damaging 0.72
Posted On 2013-03-25