Incidental Mutation 'R7054:Klk1b3'
ID 547775
Institutional Source Beutler Lab
Gene Symbol Klk1b3
Ensembl Gene ENSMUSG00000066515
Gene Name kallikrein 1-related peptidase b3
Synonyms Ngfg, mGk-3, Ngfg
MMRRC Submission 045151-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7054 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43847615-43851775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43850863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 132 (I132F)
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: I132F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082577
Gene: ENSMUSG00000066515
AA Change: I132F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 8.28e-99 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (67/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T A 4: 88,786,486 (GRCm39) H44L unknown Het
Abcc3 T C 11: 94,256,051 (GRCm39) K478R probably benign Het
Ank2 A T 3: 126,736,952 (GRCm39) probably benign Het
Apod A G 16: 31,129,950 (GRCm39) V2A probably benign Het
Armh4 C A 14: 50,011,155 (GRCm39) S184I probably damaging Het
Aspg T A 12: 112,092,824 (GRCm39) D530E probably damaging Het
Atxn7 A T 14: 14,100,878 (GRCm38) T855S probably benign Het
Blmh G C 11: 76,859,451 (GRCm39) G351R probably damaging Het
Cc2d2a C T 5: 43,857,321 (GRCm39) R454* probably null Het
Cenpp T C 13: 49,619,233 (GRCm39) E188G probably damaging Het
Cimip3 A G 17: 47,748,114 (GRCm39) probably null Het
Creg2 T C 1: 39,662,376 (GRCm39) E252G probably benign Het
Dot1l A G 10: 80,622,857 (GRCm39) Y636C probably damaging Het
Dpy30 A G 17: 74,614,835 (GRCm39) I36T probably benign Het
Eed A G 7: 89,613,935 (GRCm39) probably null Het
Fmn1 A G 2: 113,195,353 (GRCm39) D351G unknown Het
Fra10ac1 C T 19: 38,212,567 (GRCm39) probably benign Het
Gdpd4 T A 7: 97,623,136 (GRCm39) I249N probably damaging Het
Glb1l2 A T 9: 26,676,423 (GRCm39) V600D probably null Het
Gm13889 A T 2: 93,787,459 (GRCm39) probably benign Het
Gm17654 T A 14: 43,813,327 (GRCm39) N188Y Het
Gm3327 T C 14: 44,363,732 (GRCm39) F112S Het
H2-Ab1 T C 17: 34,482,316 (GRCm39) S11P probably benign Het
Hcn4 T C 9: 58,763,000 (GRCm39) S522P unknown Het
Hfm1 T C 5: 107,043,909 (GRCm39) T576A probably benign Het
Hoxa1 A G 6: 52,135,180 (GRCm39) S8P probably damaging Het
Hoxd13 A G 2: 74,499,369 (GRCm39) Y239C probably damaging Het
Ifih1 T A 2: 62,440,859 (GRCm39) I485L probably benign Het
Ift52 G A 2: 162,871,716 (GRCm39) V183M probably damaging Het
Ikbkb A G 8: 23,161,658 (GRCm39) V410A possibly damaging Het
Il22ra1 G A 4: 135,478,473 (GRCm39) V515I probably benign Het
Limk2 T C 11: 3,305,448 (GRCm39) T206A possibly damaging Het
Llph A T 10: 120,067,240 (GRCm39) probably benign Het
Lrrc26 T A 2: 25,180,087 (GRCm39) D29E probably benign Het
Ltbp4 A G 7: 27,007,191 (GRCm39) probably null Het
Mageb3 A T 2: 121,784,973 (GRCm39) V243E probably damaging Het
Mfhas1 T C 8: 36,055,792 (GRCm39) V89A probably benign Het
Mycbp2 G A 14: 103,393,534 (GRCm39) T2899I possibly damaging Het
Nckap5 A T 1: 126,186,449 (GRCm39) probably null Het
Ncor1 T C 11: 62,275,619 (GRCm39) D530G probably null Het
Or10ag55-ps1 T A 2: 87,114,775 (GRCm39) M47K probably benign Het
Or56a3b C T 7: 104,771,170 (GRCm39) R169* probably null Het
Pax4 A G 6: 28,446,322 (GRCm39) I57T probably damaging Het
Peg12 T C 7: 62,113,711 (GRCm39) I129V possibly damaging Het
Pex6 G A 17: 47,031,447 (GRCm39) A416T probably benign Het
Pgghg G A 7: 140,524,631 (GRCm39) R326H probably benign Het
Pgk2 T A 17: 40,519,366 (GRCm39) M21L probably benign Het
Polh A T 17: 46,509,642 (GRCm39) W64R probably benign Het
Rassf7 T A 7: 140,797,556 (GRCm39) H256Q probably benign Het
Rc3h2 A G 2: 37,265,258 (GRCm39) M1184T probably benign Het
Ror1 A T 4: 100,299,436 (GRCm39) E936D probably benign Het
Skic3 G A 13: 76,283,079 (GRCm39) A769T probably damaging Het
Slco1b2 A T 6: 141,617,974 (GRCm39) T440S probably damaging Het
Specc1 T A 11: 62,008,604 (GRCm39) V40E probably damaging Het
Tarbp1 T A 8: 127,201,234 (GRCm39) S191C possibly damaging Het
Timm22 A G 11: 76,298,071 (GRCm39) E14G possibly damaging Het
Tpp2 T A 1: 44,022,318 (GRCm39) D905E probably damaging Het
Trav7-5 T C 14: 53,768,756 (GRCm39) L108P probably damaging Het
Ttc9b A G 7: 27,353,667 (GRCm39) T106A probably benign Het
Ttn T C 2: 76,545,012 (GRCm39) S32697G probably damaging Het
Usp17la T G 7: 104,510,514 (GRCm39) L373R probably benign Het
Vmn1r113 A G 7: 20,521,427 (GRCm39) N73S probably benign Het
Vmn1r42 T C 6: 89,822,051 (GRCm39) T173A possibly damaging Het
Vmn2r106 A G 17: 20,499,182 (GRCm39) V243A probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r25 T A 6: 123,800,569 (GRCm39) D591V probably damaging Het
Zc3h13 T C 14: 75,559,227 (GRCm39) S379P probably benign Het
Zfp870 T C 17: 33,102,456 (GRCm39) Y292C probably damaging Het
Zfp977 A T 7: 42,229,786 (GRCm39) N246K possibly damaging Het
Zp1 G A 19: 10,896,104 (GRCm39) T207M probably damaging 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
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
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'- TGCCCAATCTCTGTGGTTAC -3'
(R):5'- TGATGATCAGAGCCCCACTC -3'

Sequencing Primer
(F):5'- CTCTAGCAACTACAAGGTTTGGCTG -3'
(R):5'- GAGCCCCACTCAGTCCTTTCAG -3'
Posted On 2019-05-13