Incidental Mutation 'R4575:Klk12'
ID 342402
Institutional Source Beutler Lab
Gene Symbol Klk12
Ensembl Gene ENSMUSG00000044430
Gene Name kallikrein related-peptidase 12
Synonyms KLK-L5, 2310008B01Rik
MMRRC Submission 041798-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4575 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 43418346-43423005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43422667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 198 (D198G)
Ref Sequence ENSEMBL: ENSMUSP00000103604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014063] [ENSMUST00000080211] [ENSMUST00000107970] [ENSMUST00000171458]
AlphaFold B2RVZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000014063
AA Change: D198G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014063
Gene: ENSMUSG00000044430
AA Change: D198G

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: D198G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103604
Gene: ENSMUSG00000044430
AA Change: D198G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206165
Meta Mutation Damage Score 0.4717 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik C T 7: 130,964,325 (GRCm39) A26T probably benign Het
4930408O17Rik C A 12: 104,837,527 (GRCm39) noncoding transcript Het
Adgrf3 T A 5: 30,407,255 (GRCm39) M224L probably benign Het
Ago3 T C 4: 126,240,475 (GRCm39) H129R probably benign Het
Aoc1l1 C T 6: 48,954,502 (GRCm39) Q547* probably null Het
Asb10 C T 5: 24,745,052 (GRCm39) R99H probably damaging Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
Bltp3a T C 17: 28,106,477 (GRCm39) V1001A probably benign Het
Ccdc96 T C 5: 36,643,419 (GRCm39) V475A possibly damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Clec4b2 T A 6: 123,150,639 (GRCm39) L16Q probably damaging Het
Cyp2c68 T A 19: 39,722,805 (GRCm39) I248L probably benign Het
Cyp2d22 G T 15: 82,256,133 (GRCm39) A167E possibly damaging Het
Dpysl3 T C 18: 43,475,312 (GRCm39) K382R probably damaging Het
Dscam A G 16: 96,626,823 (GRCm39) I362T possibly damaging Het
Edil3 T C 13: 89,467,850 (GRCm39) Y452H probably damaging Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
Fgd4 T C 16: 16,254,896 (GRCm39) Q507R probably damaging Het
Frem3 A G 8: 81,342,704 (GRCm39) T1666A probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Gabrr1 C T 4: 33,158,175 (GRCm39) T266I possibly damaging Het
Gm11563 G A 11: 99,549,275 (GRCm39) P160S unknown Het
Gm12790 T C 4: 101,825,324 (GRCm39) D30G probably benign Het
Haus8 A G 8: 71,715,736 (GRCm39) V34A probably damaging Het
Hgf T C 5: 16,777,599 (GRCm39) Y199H probably benign Het
Ide G A 19: 37,249,604 (GRCm39) P916L unknown Het
Igsf10 G T 3: 59,237,521 (GRCm39) H887N probably benign Het
Iigp1 A T 18: 60,523,218 (GRCm39) H112L probably benign Het
Impg2 A G 16: 56,082,095 (GRCm39) E1009G probably damaging Het
Khdc1a A C 1: 21,420,653 (GRCm39) D91A probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Kprp T C 3: 92,731,271 (GRCm39) N593S probably benign Het
Krt1c T G 15: 101,722,921 (GRCm39) D359A probably damaging Het
Krt35 A T 11: 99,986,725 (GRCm39) N96K probably benign Het
Lnx1 T C 5: 74,846,204 (GRCm39) D82G probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nfib A T 4: 82,215,048 (GRCm39) S518R probably damaging Het
Nol6 T C 4: 41,120,299 (GRCm39) I473V probably benign Het
Obscn T C 11: 59,013,598 (GRCm39) D1108G probably damaging Het
Or52m2 A T 7: 102,263,976 (GRCm39) C73* probably null Het
Or7g12 C A 9: 18,900,001 (GRCm39) S239* probably null Het
Otop1 T C 5: 38,457,065 (GRCm39) Y275H probably damaging Het
Ppp1r14c G T 10: 3,316,912 (GRCm39) K82N probably damaging Het
Prr14l T C 5: 32,950,988 (GRCm39) E1935G probably damaging Het
Ptprd C T 4: 76,162,023 (GRCm39) V78I possibly damaging Het
Rfc4 T A 16: 22,933,179 (GRCm39) probably benign Het
Rpn2 C A 2: 157,137,244 (GRCm39) A209E probably damaging Het
Sf1 T C 19: 6,425,943 (GRCm39) probably benign Het
Sft2d1rt T C 11: 45,942,679 (GRCm39) D148G probably damaging Het
Skint5 T A 4: 113,524,390 (GRCm39) S864C unknown Het
Slc2a10 C G 2: 165,358,241 (GRCm39) N455K probably damaging Het
Snrnp200 T A 2: 127,076,986 (GRCm39) I1673N probably benign Het
Sri G T 5: 8,113,693 (GRCm39) G152W probably damaging Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Vmn2r125 T A 4: 156,702,272 (GRCm39) D19E probably null Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F 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
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
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'- CACTCTATCATAGGGTCCAGAGAC -3'
(R):5'- AGGCTGAGGGAGTCACTTAG -3'

Sequencing Primer
(F):5'- GGCATGGAAGATTGCATTCTCTTCAC -3'
(R):5'- GGAGTCACTTAGTTATTCCTGATGAC -3'
Posted On 2015-09-24