Incidental Mutation 'R6834:Klk12'
ID 534506
Institutional Source Beutler Lab
Gene Symbol Klk12
Ensembl Gene ENSMUSG00000044430
Gene Name kallikrein related-peptidase 12
Synonyms KLK-L5, 2310008B01Rik
MMRRC Submission 044943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6834 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43418346-43423005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43422772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 233 (V233A)
Ref Sequence ENSEMBL: ENSMUSP00000103604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014063] [ENSMUST00000080211] [ENSMUST00000107970] [ENSMUST00000171458]
AlphaFold B2RVZ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000014063
AA Change: V233A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000014063
Gene: ENSMUSG00000044430
AA Change: V233A

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 possibly damaging
Transcript: ENSMUST00000107970
AA Change: V233A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103604
Gene: ENSMUSG00000044430
AA Change: V233A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 21 240 1.3e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171458
SMART Domains Protein: ENSMUSP00000132721
Gene: ENSMUSG00000067616

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 20 242 5.14e-95 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,225,110 (GRCm39) W530R possibly damaging Het
Aco1 A G 4: 40,164,747 (GRCm39) K79R probably benign Het
Adam15 C T 3: 89,247,390 (GRCm39) G426R probably damaging Het
Angptl1 A T 1: 156,672,263 (GRCm39) I30L probably benign Het
Ankrd35 A G 3: 96,590,599 (GRCm39) E295G possibly damaging Het
Ap5m1 T A 14: 49,311,194 (GRCm39) V88E probably damaging Het
Astn1 A T 1: 158,491,692 (GRCm39) Q47L probably benign Het
Atf6b T C 17: 34,868,131 (GRCm39) S135P probably damaging Het
AU018091 T A 7: 3,207,795 (GRCm39) I589F probably benign Het
Cdin1 T C 2: 115,505,265 (GRCm39) S179P probably benign Het
Cenpf T C 1: 189,391,643 (GRCm39) K730E probably damaging Het
Chrna6 C T 8: 27,898,338 (GRCm39) probably null Het
Dmxl1 A T 18: 50,088,890 (GRCm39) I2790F probably damaging Het
Ell A G 8: 71,031,784 (GRCm39) D116G probably damaging Het
Eml5 A T 12: 98,853,283 (GRCm39) H105Q probably damaging Het
Epb41l2 T A 10: 25,369,502 (GRCm39) V23D possibly damaging Het
Gatad2b T A 3: 90,255,950 (GRCm39) S139T probably benign Het
Glb1l A G 1: 75,178,397 (GRCm39) V347A possibly damaging Het
Gm4846 A T 1: 166,322,147 (GRCm39) I140N possibly damaging Het
Gng11 A G 6: 4,008,068 (GRCm39) I44V probably benign Het
Hsd17b8 T C 17: 34,246,191 (GRCm39) S161G probably damaging Het
Hsp90ab1 T C 17: 45,881,393 (GRCm39) I250V probably benign Het
Igkv4-79 A G 6: 69,020,256 (GRCm39) S20P probably damaging Het
Il11ra1 A G 4: 41,765,454 (GRCm39) H183R probably benign Het
Kcnip3 A T 2: 127,300,278 (GRCm39) F252I probably damaging Het
Klk1b11 T C 7: 43,428,336 (GRCm39) I242T probably damaging Het
Lama3 G A 18: 12,624,605 (GRCm39) C1450Y probably damaging Het
Lmod2 A T 6: 24,597,782 (GRCm39) probably benign Het
Loxhd1 T A 18: 77,529,222 (GRCm39) V1089E probably damaging Het
Lrba C T 3: 86,257,593 (GRCm39) P1286S probably benign Het
Lrrc41 T C 4: 115,953,726 (GRCm39) V804A possibly damaging Het
Lrrc8a T A 2: 30,145,659 (GRCm39) S158T possibly damaging Het
Mcm3 A T 1: 20,880,320 (GRCm39) M504K possibly damaging Het
Med24 A T 11: 98,595,850 (GRCm39) probably null Het
Mrgprx1 T C 7: 47,671,385 (GRCm39) S121G probably damaging Het
Mvb12a G A 8: 71,997,896 (GRCm39) M103I probably benign Het
Or4k15c A G 14: 50,321,685 (GRCm39) V151A probably damaging Het
Or4k2 T C 14: 50,423,940 (GRCm39) I245V probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pacsin3 T A 2: 91,093,180 (GRCm39) M224K probably damaging Het
Pam T A 1: 97,765,717 (GRCm39) I771F probably damaging Het
Pamr1 C T 2: 102,445,276 (GRCm39) R270C probably damaging Het
Pcdhgb8 G T 18: 37,895,142 (GRCm39) A71S probably benign Het
Poc1b C T 10: 99,028,666 (GRCm39) A336V probably benign Het
Prss39 G T 1: 34,537,697 (GRCm39) V54F possibly damaging Het
Ptar1 A G 19: 23,695,288 (GRCm39) T252A probably benign Het
Ptprz1 A G 6: 22,999,632 (GRCm39) D574G probably benign Het
Rnf40 G A 7: 127,195,578 (GRCm39) D635N probably benign Het
Scn1a T A 2: 66,158,086 (GRCm39) Q429L probably damaging Het
Sf1 G T 19: 6,424,127 (GRCm39) G386C probably damaging Het
Shank2 A T 7: 143,963,631 (GRCm39) Y623F probably damaging Het
Slc9a5 G T 8: 106,091,316 (GRCm39) A699S probably benign Het
Sox9 A T 11: 112,674,826 (GRCm39) Q208L probably benign Het
Synpo2l A T 14: 20,710,702 (GRCm39) D865E probably damaging Het
Szt2 A G 4: 118,245,522 (GRCm39) S1097P probably benign Het
Tmc1 C A 19: 20,772,974 (GRCm39) E676* probably null Het
Ubr3 T C 2: 69,830,825 (GRCm39) I158T possibly damaging Het
Ush2a T C 1: 188,088,989 (GRCm39) Y315H probably damaging Het
Vmn1r85 T C 7: 12,818,571 (GRCm39) D191G probably damaging Het
Vmn2r-ps158 G C 7: 42,673,004 (GRCm39) A143P probably damaging Het
Zfp358 A G 8: 3,545,613 (GRCm39) D92G probably benign Het
Zfp735 G A 11: 73,601,434 (GRCm39) G126D probably damaging Het
Zpld2 A C 4: 133,920,476 (GRCm39) V563G 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
R5480:Klk12 UTSW 7 43,420,482 (GRCm39) missense probably benign 0.03
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'- GTTAGCATGTTCTCCCGGTG -3'
(R):5'- ACAGTTGTACAGCTGCCTCTC -3'

Sequencing Primer
(F):5'- TCTCCCGGTGGTGAGCTAG -3'
(R):5'- CGCTGCCATGGGTGTAGTC -3'
Posted On 2018-09-12