Incidental Mutation 'R1261:Klk1b5'
ID 151603
Institutional Source Beutler Lab
Gene Symbol Klk1b5
Ensembl Gene ENSMUSG00000066512
Gene Name kallikrein 1-related peptidase b5
Synonyms mGK-5, Klk5
MMRRC Submission 039328-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R1261 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 43865898-43870127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43494714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 66 (S66P)
Ref Sequence ENSEMBL: ENSMUSP00000049339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048444] [ENSMUST00000205919]
AlphaFold P15945
Predicted Effect probably damaging
Transcript: ENSMUST00000048444
AA Change: S66P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049339
Gene: ENSMUSG00000074155
AA Change: S66P

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Tryp_SPc 67 286 9.24e-88 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000205919
AA Change: S66P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,912,470 (GRCm39) V114A probably benign Het
Arhgef38 T C 3: 132,866,624 (GRCm39) E171G possibly damaging Het
Arsi A G 18: 61,049,743 (GRCm39) T209A probably damaging Het
Bmp3 A T 5: 99,027,785 (GRCm39) R468S probably damaging Het
Cenpk T A 13: 104,367,293 (GRCm39) V43E possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 G T 17: 46,836,708 (GRCm39) L1106M probably damaging Het
Dnajc9 G A 14: 20,438,765 (GRCm39) probably null Het
Enpp3 A T 10: 24,650,832 (GRCm39) V768E probably damaging Het
Lrriq1 T C 10: 103,069,998 (GRCm39) D6G possibly damaging Het
Myh7b A G 2: 155,463,003 (GRCm39) K453R probably benign Het
Nipsnap3b G T 4: 53,015,166 (GRCm39) G71V probably damaging Het
Oas1h A G 5: 121,009,930 (GRCm39) E335G probably benign Het
Or5g25 A C 2: 85,478,143 (GRCm39) I174S probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Slc10a1 T A 12: 81,014,604 (GRCm39) M39L probably damaging Het
Tas1r2 G A 4: 139,382,599 (GRCm39) R79Q probably damaging Het
Thoc2l A G 5: 104,668,501 (GRCm39) T1008A probably damaging Het
Tmprss11d T C 5: 86,457,239 (GRCm39) D140G possibly damaging 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
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
R8813:Klk1b5 UTSW 7 43,496,549 (GRCm39) missense probably benign 0.08
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'- TGAGCCTAAGCCCCTTTCTGAACC -3'
(R):5'- CCAGTGTTGAGATCAGCTCTTCCC -3'

Sequencing Primer
(F):5'- TTCTGAACCCCACCTCTAGAC -3'
(R):5'- tccatccatctttccacctttc -3'
Posted On 2014-01-29