Incidental Mutation 'R9505:Klk1b8'
ID 717773
Institutional Source Beutler Lab
Gene Symbol Klk1b8
Ensembl Gene ENSMUSG00000063089
Gene Name kallikrein 1-related peptidase b8
Synonyms mGK-8, Klk8, TADG14
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R9505 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43600088-43604365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43451605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 199 (A199T)
Ref Sequence ENSEMBL: ENSMUSP00000082588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085461] [ENSMUST00000205537]
AlphaFold P07628
PDB Structure NEUROPSIN, A SERINE PROTEASE EXPRESSED IN THE LIMBIC SYSTEM OF MOUSE BRAIN [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000085461
AA Change: A199T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023
AA Change: A199T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 32 252 8.87e-99 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205537
AA Change: A199T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,185,782 (GRCm39) probably benign Het
Adamts17 A C 7: 66,774,683 (GRCm39) N961T probably benign Het
Adamts3 G A 5: 89,855,751 (GRCm39) T373I probably damaging Het
Bcan G A 3: 87,900,748 (GRCm39) P495L probably benign Het
Bicd1 A C 6: 149,385,522 (GRCm39) E85A probably benign Het
Brca1 G T 11: 101,403,592 (GRCm39) H1437N probably benign Het
Camk2n1 T C 4: 138,182,567 (GRCm39) I24T possibly damaging Het
Ces2f T A 8: 105,676,669 (GRCm39) M121K probably benign Het
Cfap299 A G 5: 98,477,213 (GRCm39) M1V probably null Het
CN725425 T A 15: 91,124,867 (GRCm39) Y136N possibly damaging Het
Ctla2a T A 13: 61,084,342 (GRCm39) M2L unknown Het
Cyp3a57 A T 5: 145,286,139 (GRCm39) Y25F probably benign Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Dnah3 A T 7: 119,644,912 (GRCm39) I1123N probably damaging Het
Fcgbpl1 A T 7: 27,841,909 (GRCm39) K615* probably null Het
Fkbp10 G T 11: 100,306,826 (GRCm39) E73* probably null Het
Flnb C A 14: 7,904,665 (GRCm38) H1023N probably benign Het
Gapvd1 T A 2: 34,613,026 (GRCm39) Q312H Het
Garre1 A T 7: 33,984,371 (GRCm39) L84Q probably damaging Het
Htr1d A T 4: 136,170,889 (GRCm39) I373F probably benign Het
Inhba G A 13: 16,201,356 (GRCm39) R306H probably damaging Het
Inka1 T A 9: 107,862,092 (GRCm39) K75* probably null Het
Iqcg A T 16: 32,861,247 (GRCm39) D156E probably benign Het
Ireb2 C A 9: 54,813,921 (GRCm39) T798K probably damaging Het
Lgi2 T C 5: 52,711,775 (GRCm39) T182A probably benign Het
Ltbp2 C A 12: 84,900,638 (GRCm39) R228L probably damaging Het
Lyrm1 A G 7: 119,509,090 (GRCm39) K22E possibly damaging Het
Mybbp1a A G 11: 72,339,897 (GRCm39) D967G probably benign Het
Nr6a1 C T 2: 38,630,485 (GRCm39) R259Q probably benign Het
Or4e2 A G 14: 52,687,929 (GRCm39) N20D probably benign Het
Or51aa5 T C 7: 103,167,446 (GRCm39) I48M probably benign Het
Or51i1 C A 7: 103,670,698 (GRCm39) V276F probably damaging Het
Pak5 A T 2: 135,958,812 (GRCm39) I92N probably damaging Het
Pcdhb5 T A 18: 37,454,664 (GRCm39) I348K possibly damaging Het
Phf2 C T 13: 48,957,134 (GRCm39) A1078T probably damaging Het
Rnf103 T C 6: 71,487,049 (GRCm39) V560A probably benign Het
Slc27a4 A G 2: 29,701,608 (GRCm39) I409V probably benign Het
Spata18 T A 5: 73,809,017 (GRCm39) probably null Het
Spon1 A G 7: 113,632,311 (GRCm39) T545A probably damaging Het
Stab1 A G 14: 30,877,722 (GRCm39) S772P probably damaging Het
Stox2 A T 8: 47,645,304 (GRCm39) S719T probably benign Het
Syne1 A G 10: 4,980,394 (GRCm39) V864A probably benign Het
Syngap1 A G 17: 27,180,579 (GRCm39) S836G probably benign Het
Tiparp G T 3: 65,439,577 (GRCm39) E298* probably null Het
Tmem52 A G 4: 155,554,615 (GRCm39) T114A probably damaging Het
Trim36 C A 18: 46,329,281 (GRCm39) C53F probably damaging Het
Ttn T C 2: 76,720,811 (GRCm39) K6871R unknown Het
Ttn C A 2: 76,715,468 (GRCm39) probably null Het
Ube2d1 T C 10: 71,098,094 (GRCm39) probably null Het
Unc13c T C 9: 73,838,824 (GRCm39) T676A probably benign Het
Vinac1 A T 2: 128,878,838 (GRCm39) D1029E unknown Het
Vps13a A T 19: 16,719,908 (GRCm39) Y417N possibly damaging Het
Zfp729a C T 13: 67,767,673 (GRCm39) C852Y probably damaging Het
Other mutations in Klk1b8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Klk1b8 APN 7 43,604,210 (GRCm39) missense probably benign 0.40
IGL01076:Klk1b8 APN 7 43,604,279 (GRCm39) missense probably damaging 1.00
IGL01486:Klk1b8 APN 7 43,453,113 (GRCm39) missense probably benign 0.14
IGL01685:Klk1b8 APN 7 43,604,294 (GRCm39) missense possibly damaging 0.88
IGL01771:Klk1b8 APN 7 43,604,290 (GRCm39) missense probably damaging 0.99
IGL02272:Klk1b8 APN 7 43,602,217 (GRCm39) missense probably damaging 1.00
IGL02596:Klk1b8 APN 7 43,602,187 (GRCm39) missense probably damaging 1.00
R0783:Klk1b8 UTSW 7 43,451,621 (GRCm39) missense probably damaging 1.00
R0789:Klk1b8 UTSW 7 43,595,151 (GRCm39) unclassified probably benign
R1005:Klk1b8 UTSW 7 43,603,758 (GRCm39) nonsense probably null
R1628:Klk1b8 UTSW 7 43,603,565 (GRCm39) splice site probably null
R1688:Klk1b8 UTSW 7 43,595,229 (GRCm39) unclassified probably benign
R1733:Klk1b8 UTSW 7 43,451,545 (GRCm39) missense possibly damaging 0.94
R1954:Klk1b8 UTSW 7 43,603,272 (GRCm39) splice site probably benign
R2020:Klk1b8 UTSW 7 43,448,640 (GRCm39) missense probably benign
R4036:Klk1b8 UTSW 7 43,447,511 (GRCm39) missense probably null 0.00
R4344:Klk1b8 UTSW 7 43,595,186 (GRCm39) unclassified probably benign
R5648:Klk1b8 UTSW 7 43,448,068 (GRCm39) missense possibly damaging 0.95
R6237:Klk1b8 UTSW 7 43,448,094 (GRCm39) nonsense probably null
R6294:Klk1b8 UTSW 7 43,602,196 (GRCm39) missense probably damaging 1.00
R6941:Klk1b8 UTSW 7 43,602,213 (GRCm39) missense possibly damaging 0.83
R7609:Klk1b8 UTSW 7 43,451,603 (GRCm39) missense probably damaging 1.00
R7871:Klk1b8 UTSW 7 43,448,750 (GRCm39) splice site probably null
R8925:Klk1b8 UTSW 7 43,604,206 (GRCm39) missense probably damaging 1.00
R8927:Klk1b8 UTSW 7 43,604,206 (GRCm39) missense probably damaging 1.00
R9184:Klk1b8 UTSW 7 43,602,158 (GRCm39) missense probably benign 0.03
R9401:Klk1b8 UTSW 7 43,603,674 (GRCm39) missense probably benign 0.01
R9456:Klk1b8 UTSW 7 43,453,177 (GRCm39) missense probably benign 0.00
Z1176:Klk1b8 UTSW 7 43,453,149 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- ACTAGTCTGGGAAGCTGTGG -3'
(R):5'- TGAGTATGCCAACCTCACTCTG -3'

Sequencing Primer
(F):5'- TGGAATGTCCAGCCAAGGG -3'
(R):5'- ACTCTGTGACCTTCTGTGCGTAG -3'
Posted On 2022-07-18