Incidental Mutation 'R6513:Klk1b27'
ID 520009
Institutional Source Beutler Lab
Gene Symbol Klk1b27
Ensembl Gene ENSMUSG00000063177
Gene Name kallikrein 1-related peptidase b27
Synonyms Klk27, mGK-27, Klk21l
MMRRC Submission 044640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R6513 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43701714-43706136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43705169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 112 (H112R)
Ref Sequence ENSEMBL: ENSMUSP00000078786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079859]
AlphaFold Q9JM71
Predicted Effect probably benign
Transcript: ENSMUST00000079859
AA Change: H112R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: H112R

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 255 1.87e-97 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,654 (GRCm39) S161G probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ankrd11 A G 8: 123,616,919 (GRCm39) V2290A probably benign Het
Aox4 A G 1: 58,252,212 (GRCm39) N29S probably benign Het
Arhgap17 T C 7: 122,891,379 (GRCm39) R592G possibly damaging Het
Caap1 A T 4: 94,389,640 (GRCm39) D231E possibly damaging Het
Cabp1 T A 5: 115,307,193 (GRCm39) M165L possibly damaging Het
Calhm4 T A 10: 33,917,630 (GRCm39) R274* probably null Het
Cep72 A T 13: 74,206,582 (GRCm39) L73H probably damaging Het
Cfap74 A G 4: 155,525,743 (GRCm39) S731G probably null Het
Dsc2 T C 18: 20,179,295 (GRCm39) I258V probably benign Het
Dsg1c T G 18: 20,407,687 (GRCm39) N344K probably benign Het
Enah A G 1: 181,841,920 (GRCm39) probably benign Het
Fbn1 T A 2: 125,225,591 (GRCm39) S554C probably damaging Het
Fkrp C A 7: 16,545,037 (GRCm39) R275L possibly damaging Het
Gbp4 C T 5: 105,270,986 (GRCm39) G215D possibly damaging Het
Gli2 G A 1: 118,783,284 (GRCm39) L239F probably damaging Het
Gpr146 A G 5: 139,378,573 (GRCm39) D125G probably damaging Het
Hectd4 C A 5: 121,494,259 (GRCm39) probably null Het
Invs G A 4: 48,397,534 (GRCm39) V370I possibly damaging Het
Kdm2b A G 5: 123,018,302 (GRCm39) V1040A probably damaging Het
Kidins220 T A 12: 25,088,434 (GRCm39) V1059D possibly damaging Het
Kif26a T A 12: 112,141,926 (GRCm39) S727T probably damaging Het
Kifbp T C 10: 62,410,813 (GRCm39) probably null Het
Krt72 T G 15: 101,685,187 (GRCm39) probably null Het
Lactb C T 9: 66,878,172 (GRCm39) R219H probably damaging Het
Lrig2 A T 3: 104,373,045 (GRCm39) I612N probably damaging Het
Meaf6 A C 4: 124,983,697 (GRCm39) N51T probably damaging Het
Mtap A G 4: 89,066,498 (GRCm39) T36A possibly damaging Het
Myo3a G A 2: 22,412,143 (GRCm39) G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 (GRCm39) T596I probably damaging Het
Or10ak14 A T 4: 118,611,224 (GRCm39) C172* probably null Het
Or4f14 C G 2: 111,743,228 (GRCm39) G16R possibly damaging Het
Pam A G 1: 97,765,752 (GRCm39) V759A possibly damaging Het
Pcare T A 17: 72,051,701 (GRCm39) E1217V probably damaging Het
Pds5a T A 5: 65,772,944 (GRCm39) I1220F probably benign Het
Phldb2 T A 16: 45,568,240 (GRCm39) M1222L possibly damaging Het
Phospho1 C T 11: 95,721,513 (GRCm39) A61V possibly damaging Het
Pnpla7 G A 2: 24,906,550 (GRCm39) V638I possibly damaging Het
Pramel34 C A 5: 93,785,391 (GRCm39) probably null Het
Ptf1a T A 2: 19,451,848 (GRCm39) D282E probably damaging Het
Ptgs2 A T 1: 149,975,879 (GRCm39) probably benign Het
Racgap1 T C 15: 99,522,156 (GRCm39) R471G probably damaging Het
Rptn T C 3: 93,303,419 (GRCm39) S251P possibly damaging Het
Shcbp1 T C 8: 4,794,507 (GRCm39) M429V probably benign Het
Shprh T C 10: 11,062,637 (GRCm39) L1248P probably damaging Het
Son T C 16: 91,456,835 (GRCm39) probably benign Het
Sppl3 T C 5: 115,233,995 (GRCm39) L355P probably damaging Het
Tbc1d31 A T 15: 57,818,778 (GRCm39) R794W probably damaging Het
Telo2 T C 17: 25,320,386 (GRCm39) Y766C probably damaging Het
Tfr2 A G 5: 137,572,793 (GRCm39) probably null Het
Tle4 T C 19: 14,429,056 (GRCm39) D722G probably damaging Het
Tprg1l A G 4: 154,243,862 (GRCm39) V98A probably benign Het
Trak1 C T 9: 121,272,822 (GRCm39) R237C probably benign Het
Vmn2r113 T C 17: 23,177,715 (GRCm39) I833T probably damaging Het
Vmn2r118 T A 17: 55,915,093 (GRCm39) S518C probably damaging Het
Vmn2r49 A G 7: 9,710,524 (GRCm39) I736T probably damaging Het
Wdr38 T A 2: 38,889,970 (GRCm39) probably null Het
Wee2 A G 6: 40,429,553 (GRCm39) E180G probably benign Het
Zbtb1 T C 12: 76,432,604 (GRCm39) S197P possibly damaging Het
Zc3h7a T C 16: 10,976,629 (GRCm39) probably null Het
Zfp516 T A 18: 82,973,835 (GRCm39) L11Q probably damaging Het
Zfp623 G A 15: 75,819,317 (GRCm39) R91H probably benign Het
Zkscan7 G A 9: 122,725,170 (GRCm39) R713Q probably benign Het
Other mutations in Klk1b27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Klk1b27 APN 7 43,705,567 (GRCm39) critical splice donor site probably null
IGL01328:Klk1b27 APN 7 43,705,303 (GRCm39) missense probably damaging 1.00
IGL01552:Klk1b27 APN 7 43,704,039 (GRCm39) missense probably damaging 1.00
IGL01632:Klk1b27 APN 7 43,706,097 (GRCm39) utr 3 prime probably benign
R0574:Klk1b27 UTSW 7 43,705,525 (GRCm39) missense probably damaging 1.00
R4723:Klk1b27 UTSW 7 43,705,956 (GRCm39) missense probably damaging 1.00
R5800:Klk1b27 UTSW 7 43,705,088 (GRCm39) missense probably benign 0.21
R6002:Klk1b27 UTSW 7 43,705,114 (GRCm39) missense probably benign
R6244:Klk1b27 UTSW 7 43,703,974 (GRCm39) missense probably benign 0.05
R6584:Klk1b27 UTSW 7 43,703,935 (GRCm39) missense possibly damaging 0.84
R6633:Klk1b27 UTSW 7 43,705,234 (GRCm39) missense probably damaging 0.98
R7074:Klk1b27 UTSW 7 43,705,977 (GRCm39) missense probably damaging 1.00
R7495:Klk1b27 UTSW 7 43,705,500 (GRCm39) missense probably benign
R7830:Klk1b27 UTSW 7 43,705,150 (GRCm39) missense probably benign 0.00
R8002:Klk1b27 UTSW 7 43,705,445 (GRCm39) missense probably benign 0.01
R8969:Klk1b27 UTSW 7 43,703,932 (GRCm39) missense probably damaging 0.99
R8994:Klk1b27 UTSW 7 43,705,136 (GRCm39) missense probably damaging 1.00
R9020:Klk1b27 UTSW 7 43,705,118 (GRCm39) missense probably damaging 1.00
R9104:Klk1b27 UTSW 7 43,705,310 (GRCm39) nonsense probably null
X0024:Klk1b27 UTSW 7 43,706,017 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GACTCTGACCAATCACCCTG -3'
(R):5'- GGGTCCAGTCCAGTTTTCTCTG -3'

Sequencing Primer
(F):5'- TGACCAATCACCCTGATTCTC -3'
(R):5'- GCTGTATCCTTGGAGAAGACTCAC -3'
Posted On 2018-06-06