Incidental Mutation 'R6791:Klk7'
ID 532584
Institutional Source Beutler Lab
Gene Symbol Klk7
Ensembl Gene ENSMUSG00000030713
Gene Name kallikrein related-peptidase 7 (chymotryptic, stratum corneum)
Synonyms Prss6
MMRRC Submission 044904-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R6791 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43460718-43465783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43462684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 163 (D163G)
Ref Sequence ENSEMBL: ENSMUSP00000032955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032955]
AlphaFold Q91VE3
Predicted Effect probably benign
Transcript: ENSMUST00000032955
AA Change: D163G

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032955
Gene: ENSMUSG00000030713
AA Change: D163G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 25 241 1.47e-90 SMART
Meta Mutation Damage Score 0.1061 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
Atp12a G A 14: 56,624,439 (GRCm39) probably null Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Col15a1 C T 4: 47,300,518 (GRCm39) P1060S probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Grm6 T C 11: 50,750,601 (GRCm39) V588A possibly damaging Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Naalad2 T C 9: 18,296,426 (GRCm39) T75A possibly damaging Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or5af1 T C 11: 58,722,903 (GRCm39) Y308H probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Rspo1 A G 4: 124,900,976 (GRCm39) H108R probably benign Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Zfp131 A G 13: 120,228,129 (GRCm39) V506A probably damaging Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T probably benign Het
Other mutations in Klk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0056:Klk7 UTSW 7 43,461,434 (GRCm39) missense possibly damaging 0.96
R1777:Klk7 UTSW 7 43,462,753 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGTGTGGGTTCCAGCATAGC -3'
(R):5'- ATCTGAGCCATGACCAGGAC -3'

Sequencing Primer
(F):5'- GGGTTCCAGCATAGCCCTCTC -3'
(R):5'- CAGGCTGGGACTAGAAGCTTTG -3'
Posted On 2018-08-29