Incidental Mutation 'R7670:Ctsk'
ID 592084
Institutional Source Beutler Lab
Gene Symbol Ctsk
Ensembl Gene ENSMUSG00000028111
Gene Name cathepsin K
Synonyms Cat K, catK
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7670 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95499256-95509362 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95501614 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 103 (N103D)
Ref Sequence ENSEMBL: ENSMUSP00000015664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015664] [ENSMUST00000090804] [ENSMUST00000107161]
AlphaFold P55097
Predicted Effect probably benign
Transcript: ENSMUST00000015664
AA Change: N103D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000015664
Gene: ENSMUSG00000028111
AA Change: N103D

DomainStartEndE-ValueType
Inhibitor_I29 26 86 1.48e-22 SMART
Pept_C1 115 328 4.25e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090804
SMART Domains Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
HLH 80 133 1e-14 SMART
PAS 148 215 1.51e-10 SMART
low complexity region 236 247 N/A INTRINSIC
PAS 337 402 1.55e-7 SMART
PAC 409 452 1.95e-4 SMART
low complexity region 710 723 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107161
SMART Domains Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
HLH 80 133 1e-14 SMART
PAS 148 215 1.51e-10 SMART
low complexity region 236 247 N/A INTRINSIC
PAS 337 402 1.55e-7 SMART
PAC 409 452 1.95e-4 SMART
low complexity region 694 707 N/A INTRINSIC
Meta Mutation Damage Score 0.3937 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: This gene encodes a member of the cathepsin family of cysteine proteases that is highly expressed in osteoclasts and is involved in the degradation of collagen and other matrix proteins in bone. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme. Mice lacking the encoded protein exhibit phenotypic features of pycnodysostosis such as increased bone density and bone deformity, which become progressively more pronounced with age. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene survive well and are fertile. They have osteopetrosis, reduced levels of thyroxine and increased pulmonary fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik C T 16: 38,828,091 D219N possibly damaging Het
Adam26a T A 8: 43,570,153 H100L probably benign Het
Adgrf2 T C 17: 42,711,372 N187S probably damaging Het
Adipoq T A 16: 23,157,582 H244Q probably damaging Het
Arhgap40 T A 2: 158,531,925 S209T probably benign Het
Arrdc3 C T 13: 80,889,093 L123F probably damaging Het
Aspscr1 A G 11: 120,689,039 N212D probably benign Het
Ccr9 A T 9: 123,779,306 S18C probably damaging Het
Cdc42bpa T A 1: 180,065,081 V270D probably damaging Het
Clic4 A G 4: 135,217,205 Y220H probably damaging Het
Cntln A C 4: 84,979,340 H388P possibly damaging Het
Col12a1 A G 9: 79,631,643 V2457A probably damaging Het
Ddx60 T C 8: 61,975,792 S779P probably damaging Het
Dnah5 T A 15: 28,246,232 probably null Het
Dnah7b T A 1: 46,109,302 D279E probably benign Het
Fam117a A G 11: 95,378,834 N308S probably benign Het
Fasn A G 11: 120,813,419 V1419A probably damaging Het
Fhad1 A G 4: 141,951,491 S625P probably benign Het
Gemin5 A G 11: 58,147,928 V585A probably benign Het
Gm5145 C A 17: 20,570,384 P8Q probably benign Het
Gm8332 T C 12: 88,249,754 N116S probably benign Het
Herc1 C A 9: 66,416,347 T1381K probably damaging Het
Herc6 T C 6: 57,660,122 I824T probably damaging Het
Klrb1 C T 6: 128,710,087 V161I probably benign Het
Krtap31-1 A G 11: 99,908,432 N154D not run Het
Lcp1 A T 14: 75,200,431 I94F probably benign Het
Lin7a A T 10: 107,382,691 Q154L possibly damaging Het
Lnx1 T C 5: 74,685,690 Y33C probably damaging Het
Myo5b T C 18: 74,701,446 V859A probably benign Het
Ncbp1 A G 4: 46,170,015 Q696R probably damaging Het
Neurl1b C G 17: 26,438,746 H219Q probably benign Het
Nme8 T C 13: 19,658,829 E392G probably benign Het
Nufip1 CAAAACAGAAAACAGAAAAC CAAAACAGAAAACAGAAAACAGAAAAC 14: 76,111,974 probably null Het
Nuggc A G 14: 65,613,526 I298V probably damaging Het
Nup155 A C 15: 8,153,696 K1247Q probably damaging Het
Olfr368 A T 2: 37,331,759 E4V probably benign Het
Olfr403 A G 11: 74,196,207 K235E probably damaging Het
Otud4 T A 8: 79,655,864 probably null Het
Pcdhb18 T C 18: 37,491,696 V693A probably damaging Het
Pcnx3 A G 19: 5,677,182 F1108L probably benign Het
Prkca A T 11: 108,014,344 N189K probably damaging Het
Rbm24 A G 13: 46,429,207 I201V probably benign Het
Reep6 T C 10: 80,333,793 L105P probably damaging Het
Retreg1 T C 15: 25,941,040 probably benign Het
Rev3l C T 10: 39,836,722 T2382I probably benign Het
Rnf31 A G 14: 55,594,361 N230S probably benign Het
Rreb1 T C 13: 37,931,572 L969P probably benign Het
Rsph4a T A 10: 33,909,033 N313K probably damaging Het
Serpina3f T A 12: 104,217,266 L129Q probably damaging Het
Slc9a2 T A 1: 40,718,997 V232D probably damaging Het
Stmn2 T C 3: 8,554,865 L121P probably damaging Het
Svep1 C T 4: 58,097,424 G1373D probably damaging Het
Tmem206 A G 1: 191,340,868 N162S probably benign Het
Tns1 C A 1: 73,952,477 R1014L possibly damaging Het
Top2b T C 14: 16,416,620 S1127P possibly damaging Het
Txndc16 A T 14: 45,135,867 C768* probably null Het
Ubl7 A T 9: 57,929,769 E354D probably benign Het
Ush2a T C 1: 188,784,708 L3205P possibly damaging Het
Xirp2 A G 2: 67,510,573 T1053A possibly damaging Het
Zbtb21 A G 16: 97,951,877 L402P probably damaging Het
Zfp27 T A 7: 29,894,796 K581N possibly damaging Het
Zfp62 A T 11: 49,215,076 probably benign Het
Other mutations in Ctsk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03149:Ctsk APN 3 95501419 missense possibly damaging 0.73
R0255:Ctsk UTSW 3 95508877 missense probably benign 0.00
R0362:Ctsk UTSW 3 95500944 missense probably damaging 1.00
R1241:Ctsk UTSW 3 95500874 missense probably benign
R2014:Ctsk UTSW 3 95506692 missense probably damaging 1.00
R2110:Ctsk UTSW 3 95506677 missense probably benign 0.35
R5597:Ctsk UTSW 3 95501696 missense probably damaging 0.99
R5990:Ctsk UTSW 3 95501456 missense probably damaging 1.00
R6363:Ctsk UTSW 3 95501551 missense probably damaging 1.00
R6754:Ctsk UTSW 3 95502685 missense probably damaging 1.00
R7142:Ctsk UTSW 3 95506948 missense possibly damaging 0.83
R7610:Ctsk UTSW 3 95500844 missense probably benign
X0005:Ctsk UTSW 3 95500938 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAATCTCTGCCCATAACCTGG -3'
(R):5'- ATTACCACAGATGCGTGCG -3'

Sequencing Primer
(F):5'- GGTGTCCATACATATGAACTGGCC -3'
(R):5'- GACTGGAGTAACGTATCCT -3'
Posted On 2019-11-12