Incidental Mutation 'R7235:Klk12'
ID 562760
Institutional Source Beutler Lab
Gene Symbol Klk12
Ensembl Gene ENSMUSG00000044430
Gene Name kallikrein related-peptidase 12
Synonyms KLK-L5, 2310008B01Rik
MMRRC Submission 045305-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7235 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43418346-43423005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43422723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 217 (S217P)
Ref Sequence ENSEMBL: ENSMUSP00000014063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014063] [ENSMUST00000080211] [ENSMUST00000107970] [ENSMUST00000171458]
AlphaFold B2RVZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000014063
AA Change: S217P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000014063
Gene: ENSMUSG00000044430
AA Change: S217P

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 damaging
Transcript: ENSMUST00000107970
AA Change: S217P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103604
Gene: ENSMUSG00000044430
AA Change: S217P

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 0.1714 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (61/62)
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
Ahnak T A 19: 8,989,852 (GRCm39) M3712K unknown Het
Bri3bp A G 5: 125,518,748 (GRCm39) E8G unknown Het
Brip1 C T 11: 86,029,701 (GRCm39) R611Q possibly damaging Het
Carm1 T G 9: 21,498,701 (GRCm39) probably benign Het
Catsper4 A T 4: 133,939,892 (GRCm39) probably null Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cip2a T A 16: 48,821,422 (GRCm39) L176H probably damaging Het
Clk4 A G 11: 51,167,012 (GRCm39) D330G probably damaging Het
Dcdc2c A G 12: 28,520,718 (GRCm39) S453P Het
Ddx46 G A 13: 55,811,053 (GRCm39) V550I probably benign Het
Dennd1a T C 2: 37,691,073 (GRCm39) N676D probably benign Het
Dnah3 T C 7: 119,631,893 (GRCm39) N1365S probably damaging Het
Dsg1b T C 18: 20,532,480 (GRCm39) V508A probably benign Het
Dus2 T C 8: 106,742,587 (GRCm39) V39A possibly damaging Het
Dync1li1 T C 9: 114,544,231 (GRCm39) V301A possibly damaging Het
Efcc1 T G 6: 87,730,780 (GRCm39) S513A probably benign Het
Eif3f T C 7: 108,537,295 (GRCm39) V167A possibly damaging Het
Ephb2 A G 4: 136,421,139 (GRCm39) Y404H probably damaging Het
Eqtn A T 4: 94,811,936 (GRCm39) D152E probably damaging Het
Ercc5 A C 1: 44,217,363 (GRCm39) K902T possibly damaging Het
Erlec1 T A 11: 30,900,751 (GRCm39) E139V possibly damaging Het
Evl G A 12: 108,614,719 (GRCm39) G38R probably damaging Het
Fads2b T G 2: 85,330,563 (GRCm39) H248P probably damaging Het
Foxd2 T C 4: 114,765,468 (GRCm39) N184S unknown Het
Frem3 T C 8: 81,417,354 (GRCm39) Y2020H probably benign Het
Ganc T C 2: 120,264,198 (GRCm39) F384L probably damaging Het
Grin2a A G 16: 9,397,129 (GRCm39) L986P probably damaging Het
Ift140 A T 17: 25,239,619 (GRCm39) D92V possibly damaging Het
Inpp5b A G 4: 124,645,185 (GRCm39) K158E probably benign Het
Iscu T A 5: 113,914,943 (GRCm39) S152T probably benign Het
Isl2 C T 9: 55,451,455 (GRCm39) T115I probably benign Het
Kalrn T A 16: 33,996,131 (GRCm39) T1542S probably benign Het
Kat6a A G 8: 23,404,285 (GRCm39) D454G possibly damaging Het
Kcnj10 T C 1: 172,196,993 (GRCm39) I169T probably damaging Het
Lancl1 T C 1: 67,077,694 (GRCm39) N14S probably benign Het
Map2 A G 1: 66,453,807 (GRCm39) Y899C probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Nr1h5 C T 3: 102,856,358 (GRCm39) probably null Het
Nup98 T C 7: 101,774,491 (GRCm39) T1515A probably damaging Het
Obscn A C 11: 58,971,666 (GRCm39) V2183G probably damaging Het
Or52n2 C T 7: 104,541,926 (GRCm39) R303Q probably benign Het
Osbpl8 A G 10: 111,105,288 (GRCm39) T248A probably benign Het
Pias3 T A 3: 96,611,679 (GRCm39) S533T probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plxna1 A G 6: 89,317,573 (GRCm39) Y680H probably damaging Het
Pnliprp2 A G 19: 58,763,659 (GRCm39) N436S probably benign Het
Pold1 T A 7: 44,191,244 (GRCm39) M196L probably benign Het
Prkdc G A 16: 15,532,127 (GRCm39) V1464I probably benign Het
Ptk2b G A 14: 66,394,536 (GRCm39) Q857* probably null Het
Qars1 T A 9: 108,387,331 (GRCm39) L185Q probably damaging Het
Rabep1 A G 11: 70,831,290 (GRCm39) N859S probably benign Het
Rnf19b A G 4: 128,977,571 (GRCm39) H156R Het
Sart3 T C 5: 113,891,703 (GRCm39) Q423R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc6a21 C T 7: 44,930,182 (GRCm39) H194Y probably damaging Het
Tcf4 G A 18: 69,790,866 (GRCm39) V420I probably damaging Het
Tjp1 T C 7: 64,968,321 (GRCm39) D701G probably benign Het
Trim42 T C 9: 97,251,761 (GRCm39) D46G probably damaging Het
Usp19 C T 9: 108,372,123 (GRCm39) R429* probably null Het
Uxs1 T C 1: 43,804,087 (GRCm39) N276S probably damaging Het
Vps50 A G 6: 3,588,078 (GRCm39) I684V probably benign Het
Yars2 T A 16: 16,122,556 (GRCm39) D307E probably benign Het
Zfp934 A T 13: 62,665,964 (GRCm39) C258S 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
R6834:Klk12 UTSW 7 43,422,772 (GRCm39) missense possibly damaging 0.59
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'- TCACTTATTGGCCAGAACCCC -3'
(R):5'- TTCTAAGCTCACAAGGGTGG -3'

Sequencing Primer
(F):5'- TTATTGGCCAGAACCCCCAGTC -3'
(R):5'- TCACAAGGGTGGGAGCCTG -3'
Posted On 2019-06-26