Incidental Mutation 'R2269:Klk1b21'
ID 242314
Institutional Source Beutler Lab
Gene Symbol Klk1b21
Ensembl Gene ENSMUSG00000066516
Gene Name kallikrein 1-related peptidase b21
Synonyms mGk-21, Klk21
MMRRC Submission 040269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2269 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43751752-43756007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43753863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 49 (I49T)
Ref Sequence ENSEMBL: ENSMUSP00000082582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085455]
AlphaFold Q61759
Predicted Effect possibly damaging
Transcript: ENSMUST00000085455
AA Change: I49T

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082582
Gene: ENSMUSG00000066516
AA Change: I49T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 9.09e-96 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206908
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (79/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Abca8a A C 11: 109,917,718 (GRCm39) F1574V probably damaging Het
Adh6a A T 3: 138,034,857 (GRCm39) I329L probably benign Het
Agap2 T A 10: 126,918,297 (GRCm39) probably benign Het
Ager A T 17: 34,818,124 (GRCm39) I185F probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Arhgef16 T A 4: 154,369,490 (GRCm39) H329L probably damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Banp A G 8: 122,702,662 (GRCm39) T70A probably benign Het
Bcl11b T C 12: 107,881,910 (GRCm39) T802A possibly damaging Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Cflar G A 1: 58,780,206 (GRCm39) probably null Het
Clec16a G A 16: 10,462,650 (GRCm39) R656H probably damaging Het
Cntn1 A G 15: 92,192,863 (GRCm39) probably benign Het
Coasy A G 11: 100,976,708 (GRCm39) T493A probably benign Het
Col16a1 C A 4: 129,946,711 (GRCm39) H111Q probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp3a41b A T 5: 145,514,976 (GRCm39) V83D probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Decr2 C A 17: 26,302,858 (GRCm39) V173L probably benign Het
Defb11 A G 8: 22,395,444 (GRCm39) *78Q probably null Het
Dock3 C A 9: 106,818,525 (GRCm39) V1190F probably damaging Het
Dusp1 A T 17: 26,726,093 (GRCm39) I200N probably damaging Het
Efna1 G A 3: 89,183,646 (GRCm39) A60V possibly damaging Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Epb41 T A 4: 131,691,458 (GRCm39) N623I probably benign Het
Fbxw22 C T 9: 109,213,062 (GRCm39) R295K probably benign Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gbe1 C T 16: 70,233,840 (GRCm39) A239V probably damaging Het
Gpatch3 C T 4: 133,311,118 (GRCm39) A518V possibly damaging Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hnrnpul1 A G 7: 25,450,299 (GRCm39) Y138H probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Klhl31 A G 9: 77,557,440 (GRCm39) D52G possibly damaging Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lrrc43 A T 5: 123,641,354 (GRCm39) T513S probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh5 T C 15: 73,664,997 (GRCm39) N258D probably benign Het
Mrpl28 T C 17: 26,345,285 (GRCm39) V235A probably benign Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or1e23 A G 11: 73,407,309 (GRCm39) S239P probably damaging Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Pkhd1 C T 1: 20,604,759 (GRCm39) probably null Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Pxdn T A 12: 30,055,774 (GRCm39) V1220E probably damaging Het
Robo1 T A 16: 72,775,660 (GRCm39) F728L probably benign Het
Rtel1 G T 2: 180,977,796 (GRCm39) Q292H probably benign Het
Sh3bp4 G A 1: 89,073,314 (GRCm39) V721I possibly damaging Het
Slc2a10 T A 2: 165,356,701 (GRCm39) C120* probably null Het
Srd5a2 T C 17: 74,331,485 (GRCm39) R171G probably damaging Het
Srsf4 T C 4: 131,624,993 (GRCm39) V130A probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbx1 T C 16: 18,400,744 (GRCm39) probably null Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tmem252 T C 19: 24,651,455 (GRCm39) I8T probably benign Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r107 T C 17: 20,595,817 (GRCm39) I790T possibly damaging Het
Vmn2r77 T C 7: 86,460,897 (GRCm39) V741A probably benign Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Ylpm1 T A 12: 85,061,824 (GRCm39) V575E unknown Het
Zbp1 T A 2: 173,060,616 (GRCm39) probably benign Het
Zfp280d C A 9: 72,209,052 (GRCm39) probably benign Het
Zkscan5 A G 5: 145,142,277 (GRCm39) Y58C probably damaging Het
Other mutations in Klk1b21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Klk1b21 APN 7 43,755,347 (GRCm39) missense possibly damaging 0.81
IGL01710:Klk1b21 APN 7 43,755,919 (GRCm39) missense probably benign 0.13
IGL02015:Klk1b21 APN 7 43,753,782 (GRCm39) missense probably benign 0.41
R0138:Klk1b21 UTSW 7 43,755,319 (GRCm39) missense probably damaging 1.00
R0384:Klk1b21 UTSW 7 43,754,917 (GRCm39) missense probably benign 0.03
R1456:Klk1b21 UTSW 7 43,754,923 (GRCm39) missense probably benign 0.01
R2021:Klk1b21 UTSW 7 43,755,418 (GRCm39) nonsense probably null
R2119:Klk1b21 UTSW 7 43,755,193 (GRCm39) missense probably benign
R2265:Klk1b21 UTSW 7 43,753,863 (GRCm39) missense possibly damaging 0.51
R2267:Klk1b21 UTSW 7 43,753,863 (GRCm39) missense possibly damaging 0.51
R5499:Klk1b21 UTSW 7 43,755,100 (GRCm39) missense probably benign 0.07
R5623:Klk1b21 UTSW 7 43,754,989 (GRCm39) missense probably damaging 0.98
R8151:Klk1b21 UTSW 7 43,753,787 (GRCm39) nonsense probably null
R8754:Klk1b21 UTSW 7 43,755,912 (GRCm39) missense probably benign 0.09
R9139:Klk1b21 UTSW 7 43,754,924 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGATCCCAGCAGTGCTTAAC -3'
(R):5'- TCTGAACGCAAACTTGGAGG -3'

Sequencing Primer
(F):5'- TAACTGTGTCCATCAAGGGTTGACC -3'
(R):5'- CGCAAACTTGGAGGGTGTAG -3'
Posted On 2014-10-16