Incidental Mutation 'R0056:Klk7'
Institutional Source Beutler Lab
Gene Symbol Klk7
Ensembl Gene ENSMUSG00000030713
Gene Namekallikrein related-peptidase 7 (chymotryptic, stratum corneum)
MMRRC Submission 038350-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #R0056 (G1)
Quality Score
Status Validated
Chromosomal Location43811294-43816359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43812010 bp
Amino Acid Change Leucine to Proline at position 17 (L17P)
Ref Sequence ENSEMBL: ENSMUSP00000032955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032955]
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

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
Ankfn1 A G 11: 89,391,676 S1061P possibly damaging Het
Atp9b A G 18: 80,765,803 S634P probably damaging Het
Bche A T 3: 73,701,321 N257K possibly damaging Het
Bms1 A T 6: 118,405,229 D449E probably benign Het
C630050I24Rik G T 8: 107,119,394 V59F unknown Het
Camkk2 C T 5: 122,742,198 E452K probably damaging Het
Ccdc121 T C 1: 181,510,553 Y278C probably damaging Het
Chd9 A G 8: 90,933,537 H375R possibly damaging Het
Entpd7 T A 19: 43,725,294 V364E probably benign Het
Epb41l3 A T 17: 69,253,397 D313V probably damaging Het
Etv6 G T 6: 134,248,534 E154* probably null Het
Fshr T G 17: 88,988,457 H274P probably damaging Het
G3bp1 A G 11: 55,498,041 N360D probably benign Het
Gdf11 C T 10: 128,886,425 R187H probably benign Het
Gm5346 A T 8: 43,625,503 C561* probably null Het
Gpihbp1 T A 15: 75,597,133 I52N probably damaging Het
H1foo G T 6: 115,946,973 probably benign Het
Htt T C 5: 34,826,078 probably benign Het
Iqcm A G 8: 75,753,386 Q324R probably benign Het
Kcng3 A G 17: 83,587,756 L427P probably damaging Het
Klrd1 G A 6: 129,593,775 V50I probably benign Het
Lama5 A T 2: 180,187,106 probably benign Het
Lamtor3 T A 3: 137,926,950 probably benign Het
Lyplal1 G A 1: 186,088,566 T228I probably benign Het
Mapk6 A G 9: 75,388,816 Y467H possibly damaging Het
March6 T C 15: 31,467,734 T776A possibly damaging Het
Mogat1 T G 1: 78,523,770 M157R probably damaging Het
Morc2b T A 17: 33,138,759 Q13L possibly damaging Het
Myo1h C T 5: 114,330,212 T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 probably null Het
Nobox A G 6: 43,304,919 C407R probably benign Het
Nupl1 A G 14: 60,239,475 probably null Het
Olfr684 A G 7: 105,157,122 S187P probably benign Het
Otoa A G 7: 121,131,347 Y590C probably benign Het
Pelp1 A T 11: 70,393,832 V1070E unknown Het
Pglyrp3 G T 3: 92,025,804 probably benign Het
Plpp2 A G 10: 79,527,229 F189S probably damaging Het
Polr2b T C 5: 77,334,535 I640T possibly damaging Het
Ryr2 T A 13: 11,669,038 T3047S probably damaging Het
Snx25 A T 8: 46,038,513 W847R probably damaging Het
Son T C 16: 91,678,155 Y454H possibly damaging Het
Sos1 A T 17: 80,413,621 N923K probably damaging Het
Tex15 A G 8: 33,582,027 H2534R probably benign Het
Ticam2 G T 18: 46,560,334 Q229K possibly damaging Het
Tnfaip3 A T 10: 19,005,293 V342E probably damaging Het
Traf6 A G 2: 101,697,151 I415M possibly damaging Het
Trpm1 A G 7: 64,243,586 D1062G probably damaging Het
Wdr59 C T 8: 111,480,607 probably benign Het
Other mutations in Klk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1777:Klk7 UTSW 7 43813329 missense probably damaging 1.00
R6791:Klk7 UTSW 7 43813260 missense probably benign 0.09
R7313:Klk7 UTSW 7 43812875 missense probably damaging 1.00
R7399:Klk7 UTSW 7 43812000 missense probably benign 0.18
R7549:Klk7 UTSW 7 43812773 intron probably null
R7867:Klk7 UTSW 7 43812909 missense probably damaging 1.00
R7950:Klk7 UTSW 7 43812909 missense probably damaging 1.00
Posted On2013-03-25