Incidental Mutation 'R2419:Klkb1'
ID 249144
Institutional Source Beutler Lab
Gene Symbol Klkb1
Ensembl Gene ENSMUSG00000109764
Gene Name kallikrein B, plasma 1
Synonyms PSA, Kal3, Klk3, Kal-3
MMRRC Submission 040381-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2419 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 45719725-45747872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45742149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 43 (D43E)
Ref Sequence ENSEMBL: ENSMUSP00000026907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026907]
AlphaFold P26262
Predicted Effect possibly damaging
Transcript: ENSMUST00000026907
AA Change: D43E

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: D43E

DomainStartEndE-ValueType
APPLE 21 104 1.96e-40 SMART
APPLE 111 194 3.93e-40 SMART
APPLE 201 284 2.65e-37 SMART
APPLE 292 375 1.34e-33 SMART
Tryp_SPc 390 621 2.22e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116473
SMART Domains Protein: ENSMUSP00000112174
Gene: ENSMUSG00000031640

DomainStartEndE-ValueType
APPLE 21 104 1.96e-40 SMART
APPLE 111 194 3.93e-40 SMART
APPLE 201 284 2.65e-37 SMART
APPLE 292 375 1.34e-33 SMART
Tryp_SPc 390 621 2.22e-99 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (57/58)
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 processing to generate a disulfide-linked heterodimeric enzyme comprised of heavy and light chains. A complete deletion of the encoded protein prevents occlusive thrombus formation in mice with a minimal role in provoked bleeding. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced hematoma expansion in streptozotocin-induced diabetic mice subjected to autologous blood injection, and prolonged activated partial thromboplastin time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,328,001 (GRCm39) A768T probably benign Het
Acyp2 T C 11: 30,582,316 (GRCm39) Y33C probably benign Het
Ampd3 A G 7: 110,367,576 (GRCm39) probably benign Het
Arap3 T C 18: 38,122,997 (GRCm39) D501G probably damaging Het
Arl4d A T 11: 101,557,714 (GRCm39) Q80L probably damaging Het
Bcorl1 A G X: 47,459,418 (GRCm39) T425A probably damaging Het
Ccdc38 T A 10: 93,384,837 (GRCm39) V35D probably benign Het
Cd6 G A 19: 10,770,216 (GRCm39) P492S probably damaging Het
Cdh20 G A 1: 104,902,740 (GRCm39) S477N possibly damaging Het
Cnmd G A 14: 79,875,488 (GRCm39) P311S probably damaging Het
Cnot8 G A 11: 58,006,136 (GRCm39) G222R probably damaging Het
Dnah9 A T 11: 65,986,241 (GRCm39) L1131* probably null Het
Dscc1 G A 15: 54,946,820 (GRCm39) R302* probably null Het
Dusp18 T C 11: 3,847,018 (GRCm39) S3P possibly damaging Het
Eml2 A G 7: 18,910,620 (GRCm39) probably benign Het
Foxb2 G C 19: 16,850,325 (GRCm39) A227G probably damaging Het
Hey1 A G 3: 8,731,003 (GRCm39) probably null Het
Itk A G 11: 46,229,044 (GRCm39) F379L probably damaging Het
Kcna2 G A 3: 107,011,469 (GRCm39) G17R probably benign Het
Kif7 C A 7: 79,348,441 (GRCm39) R1300L probably benign Het
Leng9 A G 7: 4,151,626 (GRCm39) V350A probably benign Het
Lmbr1l A C 15: 98,805,418 (GRCm39) F361C possibly damaging Het
Lrat A G 3: 82,810,992 (GRCm39) S10P probably damaging Het
Lrrk2 C A 15: 91,681,729 (GRCm39) probably benign Het
Mcur1 C T 13: 43,703,013 (GRCm39) V241M possibly damaging Het
Met T C 6: 17,535,829 (GRCm39) probably benign Het
Mical3 A G 6: 120,936,884 (GRCm39) V342A probably benign Het
Nup210 G A 6: 90,994,538 (GRCm39) probably benign Het
Or1i2 T A 10: 78,448,221 (GRCm39) I85F probably benign Het
Or1j12 T A 2: 36,343,338 (GRCm39) V247E probably damaging Het
Or4c107 A G 2: 88,789,380 (GRCm39) N190S probably benign Het
Pcdhac1 T C 18: 37,224,381 (GRCm39) L398P probably benign Het
Phc3 T C 3: 31,005,027 (GRCm39) M189V probably damaging Het
Plcb1 A G 2: 135,104,020 (GRCm39) probably benign Het
Plcxd3 G T 15: 4,604,245 (GRCm39) K284N probably benign Het
Plxnb2 A G 15: 89,045,272 (GRCm39) V1058A possibly damaging Het
Rbbp5 T C 1: 132,421,564 (GRCm39) I88T possibly damaging Het
Rfpl4b T C 10: 38,697,368 (GRCm39) R78G probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Samt2 A T X: 153,358,223 (GRCm39) probably null Het
Sdad1 T C 5: 92,453,677 (GRCm39) H37R possibly damaging Het
Setd2 T A 9: 110,378,065 (GRCm39) F627I possibly damaging Het
Ski A G 4: 155,245,350 (GRCm39) S293P probably benign Het
Slc27a1 A G 8: 72,032,560 (GRCm39) E191G possibly damaging Het
Snx18 T C 13: 113,753,755 (GRCm39) M393V possibly damaging Het
Spata31g1 A G 4: 42,974,146 (GRCm39) T1160A possibly damaging Het
Tacc1 A G 8: 25,672,829 (GRCm39) V42A possibly damaging Het
Tbc1d8 A G 1: 39,415,983 (GRCm39) F897L probably damaging Het
Tenm3 C T 8: 48,729,693 (GRCm39) D1438N possibly damaging Het
Tmem62 G A 2: 120,837,586 (GRCm39) G501E probably damaging Het
Tmem94 A G 11: 115,687,641 (GRCm39) K1167E probably damaging Het
Trap1 A G 16: 3,886,194 (GRCm39) S88P probably benign Het
Ugt2b38 T C 5: 87,571,591 (GRCm39) D147G probably damaging Het
Vmn1r168 A T 7: 23,240,824 (GRCm39) N227I probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn1r204 T G 13: 22,740,420 (GRCm39) L17R probably damaging Het
Zcchc14 T A 8: 122,330,675 (GRCm39) Q896L probably damaging Het
Zfp619 A G 7: 39,185,307 (GRCm39) K446E possibly damaging Het
Zpr1 T C 9: 46,187,490 (GRCm39) probably benign Het
Other mutations in Klkb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Klkb1 APN 8 45,747,105 (GRCm39) splice site probably benign
IGL01756:Klkb1 APN 8 45,725,361 (GRCm39) missense probably damaging 0.99
IGL01783:Klkb1 APN 8 45,729,428 (GRCm39) missense probably damaging 1.00
IGL01809:Klkb1 APN 8 45,729,090 (GRCm39) missense probably benign 0.00
IGL02128:Klkb1 APN 8 45,740,068 (GRCm39) missense probably damaging 1.00
IGL02512:Klkb1 APN 8 45,729,277 (GRCm39) splice site probably benign
E0374:Klkb1 UTSW 8 45,742,128 (GRCm39) missense possibly damaging 0.58
R0048:Klkb1 UTSW 8 45,742,233 (GRCm39) splice site probably benign
R0149:Klkb1 UTSW 8 45,729,100 (GRCm39) missense probably damaging 1.00
R0278:Klkb1 UTSW 8 45,725,446 (GRCm39) missense probably benign 0.27
R0551:Klkb1 UTSW 8 45,731,003 (GRCm39) critical splice donor site probably null
R1103:Klkb1 UTSW 8 45,729,183 (GRCm39) missense probably damaging 1.00
R1420:Klkb1 UTSW 8 45,729,183 (GRCm39) missense probably damaging 1.00
R1930:Klkb1 UTSW 8 45,728,514 (GRCm39) missense probably benign 0.13
R1931:Klkb1 UTSW 8 45,728,514 (GRCm39) missense probably benign 0.13
R2125:Klkb1 UTSW 8 45,728,541 (GRCm39) missense possibly damaging 0.68
R2418:Klkb1 UTSW 8 45,742,149 (GRCm39) missense possibly damaging 0.86
R3938:Klkb1 UTSW 8 45,735,838 (GRCm39) missense probably damaging 0.99
R4445:Klkb1 UTSW 8 45,730,092 (GRCm39) missense probably benign 0.11
R4461:Klkb1 UTSW 8 45,726,612 (GRCm39) missense probably damaging 1.00
R4969:Klkb1 UTSW 8 45,735,814 (GRCm39) missense probably benign 0.43
R4974:Klkb1 UTSW 8 45,739,995 (GRCm39) missense probably damaging 1.00
R5113:Klkb1 UTSW 8 45,723,734 (GRCm39) missense probably benign 0.00
R5117:Klkb1 UTSW 8 45,742,149 (GRCm39) missense possibly damaging 0.86
R5339:Klkb1 UTSW 8 45,723,748 (GRCm39) missense possibly damaging 0.93
R5891:Klkb1 UTSW 8 45,723,703 (GRCm39) missense probably benign 0.13
R6230:Klkb1 UTSW 8 45,736,252 (GRCm39) missense probably benign 0.03
R6554:Klkb1 UTSW 8 45,726,591 (GRCm39) missense probably damaging 1.00
R6564:Klkb1 UTSW 8 45,726,671 (GRCm39) missense probably damaging 0.98
R7130:Klkb1 UTSW 8 45,728,575 (GRCm39) missense probably benign 0.00
R7497:Klkb1 UTSW 8 45,747,827 (GRCm39) utr 3 prime probably benign
R7599:Klkb1 UTSW 8 45,731,150 (GRCm39) missense probably benign 0.01
R7867:Klkb1 UTSW 8 45,740,002 (GRCm39) missense probably damaging 1.00
R9087:Klkb1 UTSW 8 45,728,515 (GRCm39) nonsense probably null
R9254:Klkb1 UTSW 8 45,742,067 (GRCm39) missense probably benign 0.00
R9311:Klkb1 UTSW 8 45,722,983 (GRCm39) missense probably benign 0.09
R9393:Klkb1 UTSW 8 45,729,392 (GRCm39) missense probably benign 0.33
R9522:Klkb1 UTSW 8 45,730,052 (GRCm39) missense probably benign 0.02
R9756:Klkb1 UTSW 8 45,735,811 (GRCm39) missense possibly damaging 0.95
Z1176:Klkb1 UTSW 8 45,726,666 (GRCm39) missense probably damaging 0.99
Z1177:Klkb1 UTSW 8 45,728,509 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGGAGCTTCTGATGCAAAGAG -3'
(R):5'- TTGTCAGACCCGTGAAGTTG -3'

Sequencing Primer
(F):5'- CTTTGAACACTCTGAGAAACATGGC -3'
(R):5'- TCAGACCCGTGAAGTTGTAATGAC -3'
Posted On 2014-11-12