Incidental Mutation 'IGL01486:Klk8'
ID88747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk8
Ensembl Gene ENSMUSG00000064023
Gene Namekallikrein related-peptidase 8
SynonymsBSP1, Nrpn, Prss19
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL01486
Quality Score
Status
Chromosome7
Chromosomal Location43797577-43803826 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43803689 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 235 (K235E)
Ref Sequence ENSEMBL: ENSMUSP00000082588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085461] [ENSMUST00000205537]
PDB Structure
NEUROPSIN, A SERINE PROTEASE EXPRESSED IN THE LIMBIC SYSTEM OF MOUSE BRAIN [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000085461
AA Change: K235E

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023
AA Change: K235E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 32 252 8.87e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206465
Coding Region Coverage
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. Mice lacking the encoded protein exhibit impaired long-term potentiation and increased anxiety, as well as a hyperkeratosis phenotype. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for a null allele show aberrant synapses and neurons in the hippocampus CA1 field. Homozygotes for another null allele have normal LTP and spatial reference memory but show increased polyspiking in response to repetitive afferent stimulation and enhanced kainite-induced seizure activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx3 G T 3: 107,604,823 C259F probably damaging Het
Ampd3 G T 7: 110,809,916 probably benign Het
Atm T C 9: 53,510,213 I733V probably benign Het
Chrd A G 16: 20,734,140 probably null Het
Ckm G A 7: 19,421,231 G262S probably damaging Het
D1Ertd622e A T 1: 97,646,006 S111R probably damaging Het
Fbn1 A G 2: 125,389,978 V412A probably benign Het
Fbxw22 G T 9: 109,378,873 S443R probably damaging Het
Hdgfl2 G T 17: 56,098,733 A481S possibly damaging Het
Hmcn2 G A 2: 31,336,621 V203M probably damaging Het
Kdelr3 T A 15: 79,522,847 V43D probably damaging Het
Mapk1 A T 16: 17,018,280 probably benign Het
Nfic T C 10: 81,407,644 probably null Het
Pkd1l2 T C 8: 117,059,592 T625A probably benign Het
Psd2 A G 18: 35,980,335 S287G probably benign Het
Smap2 A T 4: 120,973,198 F247I probably damaging Het
Spata4 T C 8: 54,602,306 probably benign Het
Tff2 T G 17: 31,142,342 E79A probably benign Het
Thsd7a C T 6: 12,471,080 C513Y probably damaging Het
Tshz1 A G 18: 84,013,509 S925P possibly damaging Het
Xrcc4 C A 13: 90,062,032 E98* probably null Het
Ypel3 A G 7: 126,777,861 T38A probably damaging Het
Zfhx2 C T 14: 55,067,090 G1146R probably damaging Het
Zfp446 T A 7: 12,979,380 probably null Het
Other mutations in Klk8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0783:Klk8 UTSW 7 43802197 missense probably damaging 1.00
R1733:Klk8 UTSW 7 43802121 missense possibly damaging 0.94
R2020:Klk8 UTSW 7 43799216 missense probably benign
R4036:Klk8 UTSW 7 43798087 missense probably null 0.00
R5648:Klk8 UTSW 7 43798644 missense possibly damaging 0.95
R6237:Klk8 UTSW 7 43798670 nonsense probably null
R7609:Klk8 UTSW 7 43802179 missense probably damaging 1.00
R7871:Klk8 UTSW 7 43799326 splice site probably null
Z1176:Klk8 UTSW 7 43803725 missense possibly damaging 0.75
Posted On2013-11-18