Incidental Mutation 'R8813:Klk1b5'
ID 672555
Institutional Source Beutler Lab
Gene Symbol Klk1b5
Ensembl Gene ENSMUSG00000066512
Gene Name kallikrein 1-related peptidase b5
Synonyms mGK-5, Klk5
MMRRC Submission 068648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8813 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43865898-43870127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43496549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 160 (M160I)
Ref Sequence ENSEMBL: ENSMUSP00000049339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048444] [ENSMUST00000205919]
AlphaFold P15945
Predicted Effect probably benign
Transcript: ENSMUST00000048444
AA Change: M160I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000049339
Gene: ENSMUSG00000074155
AA Change: M160I

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Tryp_SPc 67 286 9.24e-88 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205919
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 96% (48/50)
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, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA467197 T C 2: 122,482,622 (GRCm39) L62P probably damaging Het
Amotl2 T G 9: 102,607,291 (GRCm39) S700A probably damaging Het
Ccdc7a A G 8: 129,549,942 (GRCm39) S1259P possibly damaging Het
Cenpj C T 14: 56,790,355 (GRCm39) E565K probably damaging Het
Clmp C T 9: 40,692,549 (GRCm39) R273* probably null Het
Cops7b A T 1: 86,528,846 (GRCm39) Q191L probably benign Het
Cyp2c23 A G 19: 44,002,054 (GRCm39) F312L probably benign Het
Dgkd G A 1: 87,843,266 (GRCm39) C169Y probably damaging Het
Dlec1 A T 9: 118,956,498 (GRCm39) N724I probably benign Het
Dmxl1 T C 18: 50,090,406 (GRCm39) V2831A probably damaging Het
Dnah5 G T 15: 28,229,719 (GRCm39) G118W probably damaging Het
Dnah6 G T 6: 73,104,937 (GRCm39) T1884K probably damaging Het
Dnai4 T C 4: 102,947,697 (GRCm39) E193G possibly damaging Het
Efnb2 T A 8: 8,670,731 (GRCm39) S290C probably damaging Het
Eif1ad6 A G 12: 87,668,593 (GRCm39) D75G probably damaging Het
Eif2ak4 C A 2: 118,278,806 (GRCm39) T990K probably damaging Het
Erich3 A G 3: 154,468,827 (GRCm39) D1093G unknown Het
H2-DMa T C 17: 34,354,734 (GRCm39) probably benign Het
Habp2 G A 19: 56,295,216 (GRCm39) D36N probably benign Het
Kcnk13 G T 12: 100,027,647 (GRCm39) G241W probably damaging Het
Kdm6b GGGTGGTGGTGGTGGTGG GGGTGGTGGTGGTGGTGGTGG 11: 69,297,655 (GRCm39) probably benign Het
Kdm6b TGG TGGGGG 11: 69,297,658 (GRCm39) probably benign Het
Lonp2 A G 8: 87,358,073 (GRCm39) Y98C probably damaging Het
Marcksl1 C T 4: 129,408,999 (GRCm39) P193S probably benign Het
Nup133 AAGAGA AAGA 8: 124,638,627 (GRCm39) 900 probably null Het
Nxf7 G A X: 134,484,515 (GRCm39) R513C possibly damaging Het
Or13a19 C A 7: 139,902,793 (GRCm39) Y60* probably null Het
Or4a73 A T 2: 89,420,730 (GRCm39) M243K probably benign Het
Or52e5 T A 7: 104,719,518 (GRCm39) Y281* probably null Het
Or7g32 T G 9: 19,389,477 (GRCm39) D23A possibly damaging Het
Or7g34 A T 9: 19,477,895 (GRCm39) Y262N probably damaging Het
Otof T A 5: 30,540,242 (GRCm39) M965L probably benign Het
Parp12 A G 6: 39,073,508 (GRCm39) F439S probably damaging Het
Pde1a G A 2: 79,959,261 (GRCm39) probably benign Het
Pramel22 T A 4: 143,380,913 (GRCm39) N370I probably damaging Het
Prrc2c T C 1: 162,532,812 (GRCm39) N1268D unknown Het
Pter T C 2: 12,985,114 (GRCm39) V148A probably benign Het
Rb1 A G 14: 73,500,027 (GRCm39) M540T probably damaging Het
Rnasel T A 1: 153,629,641 (GRCm39) N52K probably damaging Het
Rragd A T 4: 33,012,953 (GRCm39) I317F possibly damaging Het
Sla G T 15: 66,664,127 (GRCm39) S81R probably benign Het
T A G 17: 8,653,532 (GRCm39) E57G probably benign Het
Tanc1 T A 2: 59,630,265 (GRCm39) F748L probably damaging Het
Tnxb T A 17: 34,938,136 (GRCm39) W3073R probably damaging Het
Trim33 A G 3: 103,254,052 (GRCm39) T967A probably benign Het
Tro G A X: 149,438,555 (GRCm39) S34L unknown Het
Trpm1 T A 7: 63,851,756 (GRCm39) M158K possibly damaging Het
Vmn1r205 A G 13: 22,776,424 (GRCm39) L226P probably benign Het
Vmn1r56 C T 7: 5,198,733 (GRCm39) V295M probably damaging Het
Vps13c A G 9: 67,778,566 (GRCm39) D208G probably damaging Het
Zfp11 T C 5: 129,735,278 (GRCm39) D61G probably benign Het
Zscan4e C A 7: 11,041,540 (GRCm39) E139* probably null Het
Other mutations in Klk1b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Klk1b5 APN 7 43,865,928 (GRCm39) missense probably benign 0.00
IGL02379:Klk1b5 APN 7 43,500,246 (GRCm39) missense probably damaging 0.99
R0515:Klk1b5 UTSW 7 43,867,957 (GRCm39) missense probably damaging 1.00
R0706:Klk1b5 UTSW 7 43,867,938 (GRCm39) missense probably damaging 1.00
R1209:Klk1b5 UTSW 7 43,496,422 (GRCm39) missense probably damaging 0.99
R1227:Klk1b5 UTSW 7 43,496,670 (GRCm39) splice site probably null
R1261:Klk1b5 UTSW 7 43,494,714 (GRCm39) missense probably damaging 0.98
R1689:Klk1b5 UTSW 7 43,869,969 (GRCm39) missense probably damaging 0.98
R1845:Klk1b5 UTSW 7 43,869,549 (GRCm39) missense probably benign
R2153:Klk1b5 UTSW 7 43,869,322 (GRCm39) critical splice donor site probably null
R3700:Klk1b5 UTSW 7 43,500,251 (GRCm39) missense probably damaging 1.00
R4612:Klk1b5 UTSW 7 43,494,696 (GRCm39) missense possibly damaging 0.66
R4825:Klk1b5 UTSW 7 43,494,814 (GRCm39) missense probably damaging 1.00
R7456:Klk1b5 UTSW 7 43,500,255 (GRCm39) missense probably benign 0.02
R7556:Klk1b5 UTSW 7 43,496,649 (GRCm39) missense probably damaging 0.99
R8264:Klk1b5 UTSW 7 43,869,454 (GRCm39) missense probably damaging 1.00
R8402:Klk1b5 UTSW 7 43,867,962 (GRCm39) missense probably benign 0.01
R8475:Klk1b5 UTSW 7 43,500,204 (GRCm39) missense possibly damaging 0.64
R8711:Klk1b5 UTSW 7 43,867,996 (GRCm39) missense probably benign 0.02
R8886:Klk1b5 UTSW 7 43,869,192 (GRCm39) missense probably damaging 1.00
R9101:Klk1b5 UTSW 7 43,500,205 (GRCm39) missense probably benign 0.44
RF024:Klk1b5 UTSW 7 43,491,798 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TGGGACTGACCATTCATTGCC -3'
(R):5'- ACTGGAGGACTTTCGGGAAG -3'

Sequencing Primer
(F):5'- CTTATCCCTCAGAGTGTTCAGAATC -3'
(R):5'- CAGGAGCATACACAGTTTTAGTCTGG -3'
Posted On 2021-04-30