Incidental Mutation 'R7074:Klk1b27'
ID 549100
Institutional Source Beutler Lab
Gene Symbol Klk1b27
Ensembl Gene ENSMUSG00000063177
Gene Name kallikrein 1-related peptidase b27
Synonyms Klk27, mGK-27, Klk21l
MMRRC Submission 045242-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7074 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43701714-43706136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43705977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 227 (G227S)
Ref Sequence ENSEMBL: ENSMUSP00000078786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079859]
AlphaFold Q9JM71
Predicted Effect probably damaging
Transcript: ENSMUST00000079859
AA Change: G227S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: G227S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 255 1.87e-97 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,340,433 (GRCm39) I53L probably benign Het
Acss2 T C 2: 155,363,961 (GRCm39) L80P possibly damaging Het
Adam3 A T 8: 25,184,363 (GRCm39) F546I probably benign Het
Adtrp A T 13: 41,981,617 (GRCm39) probably null Het
Anapc1 G T 2: 128,520,194 (GRCm39) P208T probably damaging Het
Ankrd33 A G 15: 101,017,430 (GRCm39) K281R probably benign Het
Bcl11b A G 12: 107,955,766 (GRCm39) S128P probably benign Het
Ccdc57 T C 11: 120,794,200 (GRCm39) K265E possibly damaging Het
Cep72 A G 13: 74,199,699 (GRCm39) C244R probably benign Het
Cope A G 8: 70,765,537 (GRCm39) Q303R probably benign Het
Cpd T A 11: 76,704,420 (GRCm39) N398I probably damaging Het
Cplx1 C T 5: 108,696,393 (GRCm39) probably null Het
Dixdc1 T A 9: 50,601,214 (GRCm39) E344D possibly damaging Het
Dock7 A T 4: 98,833,445 (GRCm39) F1951I unknown Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Faap24 A T 7: 35,094,527 (GRCm39) I91K possibly damaging Het
Fubp3 T C 2: 31,485,306 (GRCm39) S107P probably damaging Het
Gas2l2 T A 11: 83,313,893 (GRCm39) Q473L probably benign Het
Ghr A T 15: 3,362,873 (GRCm39) Y200N probably damaging Het
Gm4950 G A 18: 51,998,521 (GRCm39) Q145* probably null Het
Gm826 C T 2: 160,153,810 (GRCm39) V78I unknown Het
Gnas G A 2: 174,126,842 (GRCm39) E126K probably damaging Het
Grip2 A T 6: 91,761,689 (GRCm39) V235E probably benign Het
Hmgcl A G 4: 135,681,178 (GRCm39) H88R probably benign Het
Htr7 A G 19: 36,034,283 (GRCm39) V124A probably damaging Het
Igf2r T A 17: 12,933,003 (GRCm39) I840F possibly damaging Het
Ints8 T C 4: 11,204,574 (GRCm39) I961V possibly damaging Het
Jmy A T 13: 93,590,439 (GRCm39) S555T probably benign Het
Lao1 A C 4: 118,825,382 (GRCm39) T401P probably damaging Het
Lrwd1 C T 5: 136,152,511 (GRCm39) V547I probably benign Het
Mttp C A 3: 137,813,034 (GRCm39) R532L possibly damaging Het
Muc16 T C 9: 18,566,946 (GRCm39) T1858A unknown Het
Myo18a T A 11: 77,733,387 (GRCm39) D1409E probably benign Het
Ncor2 T A 5: 125,126,430 (GRCm39) R554* probably null Het
Or14j6 T A 17: 38,214,718 (GRCm39) Y94N possibly damaging Het
Or1e1b-ps1 A T 11: 73,845,975 (GRCm39) H153L probably benign Het
Or2b11 T C 11: 59,461,835 (GRCm39) T244A probably damaging Het
Or2l13b T A 16: 19,348,855 (GRCm39) I272F possibly damaging Het
Or52b1 A G 7: 104,978,475 (GRCm39) M308T probably benign Het
Prkar2b A G 12: 32,022,147 (GRCm39) Y213H probably damaging Het
Prkd3 T A 17: 79,282,236 (GRCm39) K306* probably null Het
Psd2 A G 18: 36,143,737 (GRCm39) E681G probably benign Het
Sel1l2 T A 2: 140,105,362 (GRCm39) N276I probably damaging Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Smyd1 A G 6: 71,214,359 (GRCm39) V214A probably damaging Het
Spag5 T C 11: 78,195,868 (GRCm39) probably null Het
Trem3 C T 17: 48,556,909 (GRCm39) R127W probably damaging Het
Ttn G A 2: 76,748,425 (GRCm39) T4208I probably benign Het
Tubgcp6 A G 15: 89,004,839 (GRCm39) F260S probably damaging Het
Vmn1r51 A T 6: 90,106,654 (GRCm39) D190V probably benign Het
Zc3h14 A G 12: 98,724,859 (GRCm39) I174V possibly damaging Het
Zfp423 G A 8: 88,509,060 (GRCm39) T428I probably benign Het
Zfp608 T A 18: 55,030,454 (GRCm39) N1162I possibly damaging Het
Zmym5 T C 14: 57,042,255 (GRCm39) M8V 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
R6513:Klk1b27 UTSW 7 43,705,169 (GRCm39) missense probably benign 0.00
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
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'- CTCATAAGATCTGGGCTCCCAAG -3'
(R):5'- TGCACTCCAGTAGGACAGAG -3'

Sequencing Primer
(F):5'- AAGAGCTGGATTCCCTCACTG -3'
(R):5'- AGAGAATGTCAGACCTTGAACTC -3'
Posted On 2019-05-15