Incidental Mutation 'R5187:Ctsh'
ID 397967
Institutional Source Beutler Lab
Gene Symbol Ctsh
Ensembl Gene ENSMUSG00000032359
Gene Name cathepsin H
Synonyms Cat H
MMRRC Submission 042766-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5187 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 89936320-89958148 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89936643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 14 (L14P)
Ref Sequence ENSEMBL: ENSMUSP00000114427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034915] [ENSMUST00000123320] [ENSMUST00000132718] [ENSMUST00000143172] [ENSMUST00000185459]
AlphaFold P49935
Predicted Effect possibly damaging
Transcript: ENSMUST00000034915
AA Change: L14P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034915
Gene: ENSMUSG00000032359
AA Change: L14P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Inhibitor_I29 33 88 7.24e-17 SMART
Pept_C1 114 330 7.46e-108 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123320
AA Change: L14P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127842
Predicted Effect possibly damaging
Transcript: ENSMUST00000132718
AA Change: L40P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117599
Gene: ENSMUSG00000032359
AA Change: L40P

DomainStartEndE-ValueType
Inhibitor_I29 59 114 7.24e-17 SMART
Pfam:Peptidase_C1 140 198 4.4e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143172
AA Change: L14P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114427
Gene: ENSMUSG00000032359
AA Change: L14P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1cs8a_ 62 118 3e-6 SMART
Blast:Pept_C1 63 119 3e-24 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000185459
AA Change: L11P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140437
Gene: ENSMUSG00000032359
AA Change: L11P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Inhibitor_I29 30 85 5.3e-21 SMART
Pept_C1 85 291 9.4e-87 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190338
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin H mini, heavy, and light chains. In rat and human, these three chains can associate to form the mature enzyme, which has both aminopeptidase and endopeptidase activities. Homozygous knockout mice for this gene exhibit impaired lung surfactant processing and reduced tumorigenesis in a pancreatic cancer model. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abcg5 A G 17: 84,965,992 (GRCm39) L628S probably damaging Het
Acbd3 C T 1: 180,564,297 (GRCm39) R201* probably null Het
Adsl A G 15: 80,833,106 (GRCm39) probably benign Het
Asic1 GCACC GCACCACC 15: 99,596,684 (GRCm39) probably benign Het
Cachd1 T C 4: 100,823,397 (GRCm39) V483A possibly damaging Het
Calm1 T C 12: 100,166,472 (GRCm39) S19P probably benign Het
Casq1 T C 1: 172,040,641 (GRCm39) N313S possibly damaging Het
Cav2 G T 6: 17,286,935 (GRCm39) A64S possibly damaging Het
Ccdc167 C A 17: 29,924,485 (GRCm39) A39S possibly damaging Het
Cd274 T C 19: 29,359,936 (GRCm39) L247P probably benign Het
Cdhr5 T C 7: 140,854,361 (GRCm39) E138G probably damaging Het
Cltb C T 13: 54,741,693 (GRCm39) C81Y probably benign Het
Clvs1 T C 4: 9,281,865 (GRCm39) L103P possibly damaging Het
Cntrob G T 11: 69,212,717 (GRCm39) Q106K possibly damaging Het
Cubn T C 2: 13,292,379 (GRCm39) N3268S probably damaging Het
Cyb5r4 T C 9: 86,909,001 (GRCm39) V26A possibly damaging Het
Ddx18 A G 1: 121,489,857 (GRCm39) I184T probably damaging Het
Ddx60 T A 8: 62,427,222 (GRCm39) W766R probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnah5 G A 15: 28,272,318 (GRCm39) V1041I probably benign Het
Dnajc21 A T 15: 10,464,050 (GRCm39) N38K probably benign Het
Ermap T C 4: 119,043,015 (GRCm39) probably null Het
Fryl A G 5: 73,243,943 (GRCm39) L1209P possibly damaging Het
Gm5093 T C 17: 46,750,799 (GRCm39) E76G possibly damaging Het
Grk6 T C 13: 55,599,519 (GRCm39) C169R probably damaging Het
Hmgn1 A T 16: 95,923,627 (GRCm39) probably null Het
Lpcat2b T A 5: 107,582,001 (GRCm39) Y443* probably null Het
Macf1 T A 4: 123,365,882 (GRCm39) M1395L probably benign Het
Mllt10 C T 2: 18,213,585 (GRCm39) Q997* probably null Het
Mocos T A 18: 24,825,611 (GRCm39) V722E probably damaging Het
Moxd2 A T 6: 40,856,271 (GRCm39) L534M probably benign Het
Mphosph10 T C 7: 64,035,568 (GRCm39) M368V possibly damaging Het
Myo15a G A 11: 60,394,440 (GRCm39) G2383D probably damaging Het
Myo5b T C 18: 74,834,745 (GRCm39) I935T possibly damaging Het
Ndst4 T A 3: 125,231,560 (GRCm39) L43H probably damaging Het
Niban1 T A 1: 151,579,580 (GRCm39) L433Q possibly damaging Het
Nsl1 A G 1: 190,807,387 (GRCm39) N189D probably benign Het
Odad1 A G 7: 45,578,540 (GRCm39) I77V probably damaging Het
Or51e1 A T 7: 102,358,868 (GRCm39) H134L probably damaging Het
Pcdh8 T C 14: 80,007,594 (GRCm39) D323G probably damaging Het
Pkhd1 A G 1: 20,279,448 (GRCm39) S2957P possibly damaging Het
Prdm9 T G 17: 15,783,155 (GRCm39) E42D probably damaging Het
Rasal1 C A 5: 120,813,460 (GRCm39) H611Q probably benign Het
Relch T A 1: 105,646,534 (GRCm39) L620* probably null Het
Rif1 T A 2: 51,971,301 (GRCm39) W260R probably damaging Het
Rpain A G 11: 70,864,658 (GRCm39) D115G probably benign Het
Rpl3l T C 17: 24,951,429 (GRCm39) V110A possibly damaging Het
Ryr2 T A 13: 11,787,338 (GRCm39) I1012F probably damaging Het
Sema4f A G 6: 82,894,631 (GRCm39) V480A probably benign Het
Slc35a3 T A 3: 116,474,794 (GRCm39) K199N probably damaging Het
Slc5a6 T C 5: 31,200,322 (GRCm39) Y121C probably damaging Het
Slc7a14 T C 3: 31,291,514 (GRCm39) probably null Het
Sort1 T A 3: 108,231,992 (GRCm39) I172N probably damaging Het
Spink5 C A 18: 44,122,518 (GRCm39) H328N probably damaging Het
Tbl1xr1 A G 3: 22,263,770 (GRCm39) D504G probably damaging Het
Tcaf3 C T 6: 42,573,954 (GRCm39) C86Y possibly damaging Het
Tfap2e T C 4: 126,628,434 (GRCm39) D174G probably benign Het
Tmem42 T C 9: 122,851,232 (GRCm39) V65A probably damaging Het
Vmn1r225 C G 17: 20,723,177 (GRCm39) T206R probably damaging Het
Vmn2r38 A G 7: 9,100,571 (GRCm39) F65S probably benign Het
Vmn2r87 A T 10: 130,333,208 (GRCm39) L14Q probably null Het
Xirp2 T C 2: 67,345,711 (GRCm39) S2651P probably benign Het
Zfp429 G A 13: 67,538,959 (GRCm39) L162F probably damaging Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Other mutations in Ctsh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Ctsh APN 9 89,946,291 (GRCm39) missense probably damaging 1.00
IGL01875:Ctsh APN 9 89,946,260 (GRCm39) missense probably damaging 1.00
IGL02008:Ctsh APN 9 89,943,600 (GRCm39) missense probably damaging 1.00
R0336:Ctsh UTSW 9 89,957,791 (GRCm39) missense probably damaging 1.00
R0632:Ctsh UTSW 9 89,943,635 (GRCm39) missense possibly damaging 0.82
R1488:Ctsh UTSW 9 89,953,944 (GRCm39) missense possibly damaging 0.89
R1847:Ctsh UTSW 9 89,943,618 (GRCm39) missense probably benign 0.04
R3613:Ctsh UTSW 9 89,957,763 (GRCm39) missense probably damaging 1.00
R4270:Ctsh UTSW 9 89,943,651 (GRCm39) missense probably damaging 0.99
R4860:Ctsh UTSW 9 89,936,601 (GRCm39) missense probably benign 0.01
R5469:Ctsh UTSW 9 89,942,564 (GRCm39) critical splice donor site probably null
R5900:Ctsh UTSW 9 89,946,621 (GRCm39) missense probably damaging 1.00
R5937:Ctsh UTSW 9 89,943,509 (GRCm39) missense probably benign
R6303:Ctsh UTSW 9 89,944,796 (GRCm39) missense possibly damaging 0.83
R6657:Ctsh UTSW 9 89,942,555 (GRCm39) missense probably benign 0.30
R6905:Ctsh UTSW 9 89,944,819 (GRCm39) missense probably damaging 1.00
R6985:Ctsh UTSW 9 89,936,657 (GRCm39) missense possibly damaging 0.90
R7171:Ctsh UTSW 9 89,949,154 (GRCm39) missense probably benign
R7342:Ctsh UTSW 9 89,957,040 (GRCm39) missense probably benign
R7819:Ctsh UTSW 9 89,942,556 (GRCm39) missense possibly damaging 0.71
R7884:Ctsh UTSW 9 89,943,476 (GRCm39) missense probably benign
R8099:Ctsh UTSW 9 89,946,300 (GRCm39) missense probably damaging 1.00
R8294:Ctsh UTSW 9 89,950,489 (GRCm39) missense possibly damaging 0.74
R9195:Ctsh UTSW 9 89,944,815 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CAGGAGTGTAATGGCCACAG -3'
(R):5'- AAGTTTTGTGCCCTTAGCTGTC -3'

Sequencing Primer
(F):5'- GCCACAGGGGGCAGGAG -3'
(R):5'- AAGGCTTCTGTATCTAGATCTGAGCC -3'
Posted On 2016-07-06