Incidental Mutation 'R6631:Klk1b3'
ID 525120
Institutional Source Beutler Lab
Gene Symbol Klk1b3
Ensembl Gene ENSMUSG00000066515
Gene Name kallikrein 1-related peptidase b3
Synonyms Ngfg, mGk-3, Ngfg
MMRRC Submission 044753-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6631 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43847615-43851775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43850888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 140 (T140I)
Ref Sequence ENSEMBL: ENSMUSP00000082577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085450]
AlphaFold P00756
PDB Structure CRYSTAL STRUCTURE OF 7S NGF: A COMPLEX OF NERVE GROWTH FACTOR WITH FOUR BINDING PROTEINS (SERINE PROTEINASES) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000085450
AA Change: T140I

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000082577
Gene: ENSMUSG00000066515
AA Change: T140I

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 8.28e-99 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206892
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 96% (50/52)
MGI Phenotype FUNCTION: This gene encodes the gamma subunit of the 7S nerve growth factor (NGF) complex that is essential for the differentiation and survival of distinct populations of neurons in both the central and the peripheral nervous systems. The encoded protein is a glandular kallikrein-type serine protease that processes the beta subunit of NGF. This gene is present in a cluster of multiple related kallikrein-type protease genes on chromosome 7. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A T 9: 15,203,326 (GRCm39) N159K probably damaging Het
Arhgef10l T C 4: 140,245,058 (GRCm39) probably benign Het
Atosa A G 9: 74,861,107 (GRCm39) D4G possibly damaging Het
Avil A G 10: 126,843,618 (GRCm39) S153G possibly damaging Het
C2cd3 G A 7: 100,067,747 (GRCm39) D877N probably damaging Het
Clca3a2 G A 3: 144,519,405 (GRCm39) A257V probably benign Het
Cramp1 T A 17: 25,202,931 (GRCm39) H366L probably benign Het
Cyp2c37 C T 19: 39,998,287 (GRCm39) S393L probably damaging Het
Defb8 T A 8: 19,495,950 (GRCm39) I37L probably benign Het
Dennd4b C A 3: 90,185,039 (GRCm39) probably null Het
Eps8l2 G A 7: 140,936,115 (GRCm39) R223H probably damaging Het
Erbin A G 13: 103,961,400 (GRCm39) L1302P probably benign Het
Exoc3l A G 8: 106,021,993 (GRCm39) W37R probably damaging Het
Fap T C 2: 62,333,725 (GRCm39) N668S probably damaging Het
Gas7 A G 11: 67,565,107 (GRCm39) N250S probably damaging Het
H2bc12 T A 13: 22,220,391 (GRCm39) V112E probably damaging Het
Hivep1 C A 13: 42,309,956 (GRCm39) P732Q probably damaging Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Itgb8 A T 12: 119,144,712 (GRCm39) L332* probably null Het
Kctd19 A G 8: 106,111,960 (GRCm39) probably null Het
Kif14 G A 1: 136,443,697 (GRCm39) S1290N probably benign Het
Lama1 A G 17: 68,081,477 (GRCm39) N1305D probably benign Het
Lrp1 A T 10: 127,410,201 (GRCm39) V1515E probably damaging Het
Man2b1 A G 8: 85,813,440 (GRCm39) probably null Het
Mocos A G 18: 24,832,988 (GRCm39) T818A probably benign Het
Mpc2 G T 1: 165,307,081 (GRCm39) W94L probably benign Het
Mrc1 G A 2: 14,243,296 (GRCm39) V141I probably benign Het
Nalcn T C 14: 123,697,663 (GRCm39) T538A probably benign Het
Ndufs3 G A 2: 90,732,744 (GRCm39) T114M probably damaging Het
Noct T C 3: 51,157,621 (GRCm39) C320R probably damaging Het
Or5b117 T A 19: 13,431,185 (GRCm39) Q232L probably benign Het
Pcdha11 G T 18: 37,138,844 (GRCm39) A158S probably damaging Het
Pcdhga8 T A 18: 37,860,109 (GRCm39) D388E probably benign Het
Peg3 T C 7: 6,712,069 (GRCm39) E1051G possibly damaging Het
Phlda2 T A 7: 143,055,918 (GRCm39) I104F probably damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Pomt2 C T 12: 87,186,417 (GRCm39) probably null Het
Ppp6r2 G A 15: 89,137,458 (GRCm39) probably null Het
Prdm2 T G 4: 142,861,454 (GRCm39) Q612P probably benign Het
Prr5 C A 15: 84,586,978 (GRCm39) R243S probably damaging Het
Ptgdr2 T C 19: 10,918,233 (GRCm39) I250T probably benign Het
Rad54l2 A T 9: 106,590,739 (GRCm39) C462* probably null Het
Sec16a T A 2: 26,329,969 (GRCm39) E682V probably damaging Het
Serpina3i A G 12: 104,232,725 (GRCm39) D210G probably damaging Het
Slain2 T A 5: 73,114,748 (GRCm39) D326E probably benign Het
Sned1 A G 1: 93,209,374 (GRCm39) E829G probably damaging Het
Steap4 G A 5: 8,026,995 (GRCm39) W319* probably null Het
Taar8c A G 10: 23,977,701 (GRCm39) V37A probably benign Het
Tdrd12 T A 7: 35,184,654 (GRCm39) Y753F probably damaging Het
Tnxb A G 17: 34,937,222 (GRCm39) S3770G probably damaging Het
Trrap A G 5: 144,708,460 (GRCm39) N48S possibly damaging Het
Zfp558 C A 9: 18,368,219 (GRCm39) G190* probably null Het
Other mutations in Klk1b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
delicato UTSW 7 43,849,828 (GRCm39) splice site probably null
fragile UTSW 7 43,851,111 (GRCm39) missense probably damaging 1.00
R1294:Klk1b3 UTSW 7 43,849,720 (GRCm39) missense probably damaging 1.00
R4131:Klk1b3 UTSW 7 43,851,111 (GRCm39) missense probably damaging 1.00
R4611:Klk1b3 UTSW 7 43,850,689 (GRCm39) missense possibly damaging 0.84
R6086:Klk1b3 UTSW 7 43,851,158 (GRCm39) missense probably damaging 1.00
R6845:Klk1b3 UTSW 7 43,851,127 (GRCm39) missense probably benign 0.28
R7054:Klk1b3 UTSW 7 43,850,863 (GRCm39) missense probably damaging 0.99
R7215:Klk1b3 UTSW 7 43,849,828 (GRCm39) splice site probably null
R8816:Klk1b3 UTSW 7 43,851,668 (GRCm39) missense possibly damaging 0.74
R8938:Klk1b3 UTSW 7 43,849,729 (GRCm39) missense probably damaging 1.00
Z1088:Klk1b3 UTSW 7 43,849,729 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAAGGATGAACCATCTGCTCAG -3'
(R):5'- ATTAGGCAGGAGCTTGAGGTTC -3'

Sequencing Primer
(F):5'- GCTCAGCACCGATTTGTCAG -3'
(R):5'- GGTTCACACAGTAGAGATCATCTGTG -3'
Posted On 2018-06-22