Incidental Mutation 'R5480:Klk12'
ID 434259
Institutional Source Beutler Lab
Gene Symbol Klk12
Ensembl Gene ENSMUSG00000044430
Gene Name kallikrein related-peptidase 12
Synonyms KLK-L5, 2310008B01Rik
MMRRC Submission 043041-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5480 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43418346-43423005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 43420482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 140 (H140Q)
Ref Sequence ENSEMBL: ENSMUSP00000103604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014063] [ENSMUST00000080211] [ENSMUST00000107970]
AlphaFold B2RVZ0
Predicted Effect probably benign
Transcript: ENSMUST00000014063
AA Change: H140Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000014063
Gene: ENSMUSG00000044430
AA Change: H140Q

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 21 240 1.3e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080211
SMART Domains Protein: ENSMUSP00000079101
Gene: ENSMUSG00000067616

DomainStartEndE-ValueType
low complexity region 22 37 N/A INTRINSIC
Tryp_SPc 47 269 5.14e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107970
AA Change: H140Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103604
Gene: ENSMUSG00000044430
AA Change: H140Q

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 21 240 1.3e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181454
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.7%
Validation Efficiency 97% (56/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh7 A G 17: 57,306,131 (GRCm39) probably benign Het
Alpk2 A G 18: 65,482,979 (GRCm39) L343S probably damaging Het
Btbd10 T A 7: 112,915,914 (GRCm39) R392W probably damaging Het
Camkv A G 9: 107,824,074 (GRCm39) D216G probably damaging Het
Col22a1 T C 15: 71,836,460 (GRCm39) D525G probably damaging Het
Dqx1 A T 6: 83,041,784 (GRCm39) D542V probably damaging Het
Epha8 T C 4: 136,662,441 (GRCm39) T539A probably benign Het
Faap100 T C 11: 120,267,939 (GRCm39) E278G probably damaging Het
Fat2 A G 11: 55,200,912 (GRCm39) S721P probably damaging Het
Fcgbpl1 T A 7: 27,857,424 (GRCm39) C2257* probably null Het
Frem2 A T 3: 53,563,928 (GRCm39) L193* probably null Het
Gfy C A 7: 44,826,657 (GRCm39) V394F probably benign Het
Gipr A G 7: 18,894,579 (GRCm39) L241P probably damaging Het
Gm5478 A G 15: 101,552,100 (GRCm39) S445P probably damaging Het
Ift140 G T 17: 25,239,550 (GRCm39) W69L probably damaging Het
Kat6a T A 8: 23,428,323 (GRCm39) M1226K possibly damaging Het
Map3k14 A G 11: 103,130,330 (GRCm39) F196L probably benign Het
Mblac2 T A 13: 81,898,395 (GRCm39) V257E possibly damaging Het
Pcdha11 A G 18: 37,138,935 (GRCm39) E188G probably benign Het
Pdzd7 T C 19: 45,027,724 (GRCm39) N250S possibly damaging Het
Phkb A G 8: 86,648,811 (GRCm39) D209G probably damaging Het
Pigs T G 11: 78,219,901 (GRCm39) I92S possibly damaging Het
Pigz G T 16: 31,763,439 (GRCm39) G166C probably damaging Het
Pkd1l2 C A 8: 117,757,388 (GRCm39) R1550L probably damaging Het
Pkd2l1 A G 19: 44,180,595 (GRCm39) V40A probably benign Het
Plxna1 A T 6: 89,301,616 (GRCm39) M1470K probably damaging Het
Polq T A 16: 36,833,652 (GRCm39) probably benign Het
Prune2 A G 19: 17,098,311 (GRCm39) T1272A possibly damaging Het
Rfwd3 A T 8: 112,000,464 (GRCm39) D720E probably damaging Het
Rgs12 C G 5: 35,123,455 (GRCm39) Q413E probably benign Het
Rhobtb1 T A 10: 69,106,563 (GRCm39) V376D possibly damaging Het
Rrp8 C T 7: 105,383,336 (GRCm39) S310N probably damaging Het
S100a3 C T 3: 90,509,591 (GRCm39) L79F probably damaging Het
Setbp1 C A 18: 78,901,278 (GRCm39) M796I probably damaging Het
Sipa1 A G 19: 5,709,658 (GRCm39) L254P possibly damaging Het
Slc4a7 C G 14: 14,782,138 (GRCm38) H964Q probably damaging Het
Strc G T 2: 121,195,300 (GRCm39) P1661Q probably benign Het
Taf5l A T 8: 124,736,559 (GRCm39) V4E possibly damaging Het
Tbc1d15 T C 10: 115,069,123 (GRCm39) E82G probably damaging Het
Thada A G 17: 84,739,682 (GRCm39) S858P probably benign Het
Ticrr T C 7: 79,310,557 (GRCm39) V157A probably damaging Het
Trim21 T C 7: 102,208,463 (GRCm39) T419A probably benign Het
Vmn2r60 G T 7: 41,785,154 (GRCm39) W122L probably damaging Het
Vwa3b C A 1: 37,139,787 (GRCm39) Y369* probably null Het
Ythdf3 T C 3: 16,237,664 (GRCm39) S2P possibly damaging Het
Other mutations in Klk12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02508:Klk12 APN 7 43,419,113 (GRCm39) missense probably benign 0.18
R4465:Klk12 UTSW 7 43,422,807 (GRCm39) missense probably damaging 1.00
R4467:Klk12 UTSW 7 43,422,807 (GRCm39) missense probably damaging 1.00
R4575:Klk12 UTSW 7 43,422,667 (GRCm39) missense probably damaging 1.00
R4576:Klk12 UTSW 7 43,422,667 (GRCm39) missense probably damaging 1.00
R4577:Klk12 UTSW 7 43,422,667 (GRCm39) missense probably damaging 1.00
R4578:Klk12 UTSW 7 43,422,667 (GRCm39) missense probably damaging 1.00
R6834:Klk12 UTSW 7 43,422,772 (GRCm39) missense possibly damaging 0.59
R7235:Klk12 UTSW 7 43,422,723 (GRCm39) missense probably damaging 0.98
R7468:Klk12 UTSW 7 43,422,780 (GRCm39) missense probably damaging 1.00
R7644:Klk12 UTSW 7 43,419,134 (GRCm39) missense probably damaging 1.00
R8698:Klk12 UTSW 7 43,419,113 (GRCm39) missense probably benign 0.18
R8994:Klk12 UTSW 7 43,421,485 (GRCm39) missense probably damaging 0.98
R9037:Klk12 UTSW 7 43,419,139 (GRCm39) missense probably damaging 1.00
X0064:Klk12 UTSW 7 43,420,342 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GTTGAGACACACCACCTTCTCC -3'
(R):5'- TGTCCTGATGATCCCTCGTG -3'

Sequencing Primer
(F):5'- TTGAGACACACCACCTTCTCCATAAC -3'
(R):5'- AACTCTAACCCCAGGCTTCTG -3'
Posted On 2016-10-06