Incidental Mutation 'R6086:Klk1b3'
ID 482480
Institutional Source Beutler Lab
Gene Symbol Klk1b3
Ensembl Gene ENSMUSG00000066515
Gene Name kallikrein 1-related peptidase b3
Synonyms Ngfg, mGk-3, Ngfg
MMRRC Submission 044427-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6086 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43847615-43851775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43851158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 197 (L197Q)
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 damaging
Transcript: ENSMUST00000085450
AA Change: L197Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082577
Gene: ENSMUSG00000066515
AA Change: L197Q

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 8.28e-99 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206892
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (65/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob G T 12: 8,065,164 (GRCm39) K4044N probably benign Het
Asic4 G A 1: 75,449,887 (GRCm39) V468I possibly damaging Het
Atf4 T A 15: 80,141,654 (GRCm39) V348D probably benign Het
Bcl9 A G 3: 97,112,840 (GRCm39) V1205A possibly damaging Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Cap2 C A 13: 46,789,188 (GRCm39) P131Q probably damaging Het
Cdyl2 A G 8: 117,316,035 (GRCm39) S318P probably damaging Het
Ces1a T G 8: 93,753,981 (GRCm39) N341H probably benign Het
Cimap2 T C 4: 106,470,403 (GRCm39) E218G probably damaging Het
Crlf3 C T 11: 79,939,436 (GRCm39) V352M possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyren A G 6: 34,851,555 (GRCm39) S127P probably damaging Het
Dnah2 T C 11: 69,406,834 (GRCm39) T529A probably benign Het
Dnah9 C T 11: 65,880,741 (GRCm39) D2619N probably damaging Het
Dnah9 A C 11: 65,976,000 (GRCm39) S1350A probably benign Het
Dnajc6 C T 4: 101,455,004 (GRCm39) S65L probably benign Het
Dnm3 C A 1: 162,148,602 (GRCm39) R256S probably damaging Het
Enpp2 T C 15: 54,709,230 (GRCm39) D795G probably damaging Het
Fah A T 7: 84,238,120 (GRCm39) W367R probably damaging Het
Fam220a T A 5: 143,548,796 (GRCm39) H69Q probably benign Het
Fgd3 T A 13: 49,440,772 (GRCm39) T220S probably benign Het
Furin G T 7: 80,045,179 (GRCm39) H248Q probably damaging Het
Gabrg1 A T 5: 70,911,396 (GRCm39) L410Q probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Gm9742 T C 13: 8,080,069 (GRCm39) noncoding transcript Het
Gpcpd1 A G 2: 132,380,034 (GRCm39) S252P probably damaging Het
Hnrnpdl C T 5: 100,184,340 (GRCm39) G398S probably null Het
Hspa1l T C 17: 35,197,131 (GRCm39) V390A possibly damaging Het
Htr3b T C 9: 48,858,598 (GRCm39) S94G probably benign Het
Klf10 G T 15: 38,297,181 (GRCm39) S271R probably benign Het
Knl1 A G 2: 118,924,549 (GRCm39) R1861G probably damaging Het
Myo9a C T 9: 59,697,340 (GRCm39) Q374* probably null Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Ncapg T C 5: 45,850,578 (GRCm39) L728P probably damaging Het
Nfxl1 A C 5: 72,698,362 (GRCm39) F228V probably benign Het
Ntaq1 C A 15: 58,014,024 (GRCm39) A71E probably damaging Het
Oc90 A G 15: 65,761,560 (GRCm39) S153P probably damaging Het
Or4c123 A G 2: 89,127,198 (GRCm39) C139R probably damaging Het
Or5b105 A G 19: 13,079,745 (GRCm39) *308Q probably null Het
Pbk A T 14: 66,052,702 (GRCm39) K182* probably null Het
Piezo1 A G 8: 123,228,396 (GRCm39) F296S possibly damaging Het
Psmg1 T A 16: 95,781,244 (GRCm39) Y288F probably damaging Het
Rab11fip4 G A 11: 79,574,306 (GRCm39) D132N probably damaging Het
Recql4 T C 15: 76,588,787 (GRCm39) D1051G probably damaging Het
Reep5 A C 18: 34,490,184 (GRCm39) D104E probably damaging Het
Rnpepl1 T C 1: 92,845,403 (GRCm39) Y441H probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Sema3b T C 9: 107,478,047 (GRCm39) D446G probably damaging Het
Sema4d C T 13: 51,867,781 (GRCm39) R190Q probably damaging Het
Slco3a1 G A 7: 73,968,338 (GRCm39) R461C possibly damaging Het
Spmap2l T A 5: 77,209,152 (GRCm39) V458E probably benign Het
Tenm2 T A 11: 35,899,473 (GRCm39) I2562F possibly damaging Het
Tmem40 G T 6: 115,710,628 (GRCm39) N120K possibly damaging Het
Tmod3 T C 9: 75,407,405 (GRCm39) H351R probably benign Het
Tnn C T 1: 159,913,690 (GRCm39) V1268M probably damaging Het
Tpmt T A 13: 47,188,506 (GRCm39) D132V probably damaging Het
Trgc3 T C 13: 19,447,454 (GRCm39) S136P probably damaging Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Tsen2 A G 6: 115,537,036 (GRCm39) E264G probably benign Het
Urah A G 7: 140,416,711 (GRCm39) I60M probably benign Het
Vmn2r26 T A 6: 124,016,519 (GRCm39) S328T possibly damaging Het
Vmn2r27 G C 6: 124,168,958 (GRCm39) T724R probably damaging Het
Washc2 A G 6: 116,233,177 (GRCm39) probably null Het
Zfp955b T A 17: 33,521,478 (GRCm39) W316R probably benign Het
Zranb2 T C 3: 157,248,883 (GRCm39) 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
R6631:Klk1b3 UTSW 7 43,850,888 (GRCm39) missense probably benign 0.08
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'- GGTCCAAGCAACATAGCTGG -3'
(R):5'- CCCTAAGACAAGTCACAGGG -3'

Posted On 2017-07-14