Incidental Mutation 'R8270:Ctse'
ID 639421
Institutional Source Beutler Lab
Gene Symbol Ctse
Ensembl Gene ENSMUSG00000004552
Gene Name cathepsin E
Synonyms A430072O03Rik, CE, C920004C08Rik, CatE
MMRRC Submission 067694-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8270 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 131566052-131603245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131595877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 190 (Y190H)
Ref Sequence ENSEMBL: ENSMUSP00000073072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073350] [ENSMUST00000112411]
AlphaFold P70269
Predicted Effect probably damaging
Transcript: ENSMUST00000073350
AA Change: Y190H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073072
Gene: ENSMUSG00000004552
AA Change: Y190H

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:A1_Propeptide 22 50 7e-14 PFAM
Pfam:Asp 78 395 2.1e-129 PFAM
Pfam:TAXi_N 79 236 1.3e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112411
AA Change: Y190H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108030
Gene: ENSMUSG00000004552
AA Change: Y190H

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:A1_Propeptide 22 50 2.7e-12 PFAM
Pfam:Asp 78 315 2e-99 PFAM
Pfam:TAXi_N 79 236 6.1e-14 PFAM
Pfam:Asp 310 362 6.8e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase A1 family of aspartate proteases and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. Homozygous knockout mice for this gene exhibit lysosomal storage disorder, impaired autophagy, mitochondrial abnormalities, dermatitis, and reduced weight gain in an obesity model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile, but develop skin lesions on the face, ears, neck and dorsal skin which are similar to those seen in human atopic dermatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,651,163 (GRCm39) T3044I probably damaging Het
Apbb1ip C T 2: 22,765,004 (GRCm39) P562S unknown Het
Arhgap44 A G 11: 64,912,860 (GRCm39) M477T possibly damaging Het
Arhgef12 T C 9: 42,882,354 (GRCm39) T1497A probably benign Het
Atp5pd T C 11: 115,307,698 (GRCm39) D91G probably damaging Het
Atp6v0a4 A G 6: 38,051,164 (GRCm39) F405L probably damaging Het
Bicc1 T A 10: 70,767,938 (GRCm39) T893S probably damaging Het
Cacna1i T A 15: 80,257,835 (GRCm39) C1122S probably damaging Het
Capn7 A G 14: 31,080,636 (GRCm39) E369G probably damaging Het
Cass4 T A 2: 172,269,589 (GRCm39) L557Q probably damaging Het
Cdh5 A G 8: 104,839,672 (GRCm39) I48V probably benign Het
Crisp3 T C 17: 40,546,813 (GRCm39) K35R probably benign Het
Csde1 G A 3: 102,946,071 (GRCm39) A22T possibly damaging Het
Cyp2d34 T A 15: 82,504,988 (GRCm39) D24V possibly damaging Het
D630045J12Rik A T 6: 38,167,658 (GRCm39) Y981* probably null Het
Dclre1a G A 19: 56,533,382 (GRCm39) T404I possibly damaging Het
Dmc1 T C 15: 79,485,746 (GRCm39) D23G probably damaging Het
Dnah8 C T 17: 31,059,687 (GRCm39) T4429M probably damaging Het
Esf1 A T 2: 139,997,033 (GRCm39) probably benign Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Fn3k A T 11: 121,330,137 (GRCm39) M107L probably benign Het
Fxyd5 A G 7: 30,740,854 (GRCm39) L10P probably damaging Het
Gm21958 G A 3: 54,621,633 (GRCm39) probably benign Het
Gm4922 C T 10: 18,659,760 (GRCm39) D321N probably benign Het
Gtf2h3 A G 5: 124,734,050 (GRCm39) *310W probably null Het
Hapln2 G A 3: 87,930,851 (GRCm39) T180I possibly damaging Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Iqgap1 A G 7: 80,379,875 (GRCm39) V1166A probably damaging Het
Kcnk10 T C 12: 98,401,358 (GRCm39) N439S Het
Klhl3 A T 13: 58,260,968 (GRCm39) M15K Het
Klk1b26 A T 7: 43,665,544 (GRCm39) T151S probably benign Het
Krtap5-1 C A 7: 141,850,199 (GRCm39) C176F unknown Het
Krtap5-3 T A 7: 141,755,693 (GRCm39) C177S unknown Het
Lrrc37 T C 11: 103,434,141 (GRCm39) I3009M unknown Het
Map1a T C 2: 121,129,501 (GRCm39) F180L probably damaging Het
Mfap5 T C 6: 122,498,889 (GRCm39) probably null Het
Nckap1 T A 2: 80,355,008 (GRCm39) H638L possibly damaging Het
Optc C T 1: 133,832,810 (GRCm39) V97M probably benign Het
Or5p78 T A 7: 108,212,150 (GRCm39) I212N probably benign Het
Or8b46 T G 9: 38,450,644 (GRCm39) M151R noncoding transcript Het
Piezo1 A G 8: 123,228,298 (GRCm39) Y330H Het
Ppp1r12b G T 1: 134,803,886 (GRCm39) N424K probably benign Het
Prdm5 T A 6: 65,913,058 (GRCm39) F580L probably damaging Het
Prr27 A C 5: 87,994,171 (GRCm39) K348N possibly damaging Het
Prr30 A G 14: 101,435,822 (GRCm39) Y247H possibly damaging Het
Rbks A T 5: 31,807,810 (GRCm39) probably benign Het
Sec24d T C 3: 123,099,535 (GRCm39) V336A possibly damaging Het
Serac1 A T 17: 6,101,033 (GRCm39) L457H probably damaging Het
Serpina1f A G 12: 103,659,757 (GRCm39) I175T probably damaging Het
Smr2l T C 5: 88,430,383 (GRCm39) V93A possibly damaging Het
Sspo A T 6: 48,426,897 (GRCm39) H242L probably benign Het
Tcaf2 A T 6: 42,606,958 (GRCm39) M332K probably benign Het
Tnrc6a T A 7: 122,769,294 (GRCm39) N361K possibly damaging Het
Trim43b G T 9: 88,967,458 (GRCm39) H393N possibly damaging Het
Ush2a T C 1: 188,176,838 (GRCm39) L1334S probably benign Het
Usp35 T C 7: 96,961,551 (GRCm39) E625G probably benign Het
Other mutations in Ctse
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02151:Ctse APN 1 131,600,273 (GRCm39) missense probably benign 0.00
IGL02492:Ctse APN 1 131,595,972 (GRCm39) missense probably damaging 1.00
R0057:Ctse UTSW 1 131,591,109 (GRCm39) missense probably damaging 1.00
R0057:Ctse UTSW 1 131,591,109 (GRCm39) missense probably damaging 1.00
R0690:Ctse UTSW 1 131,602,516 (GRCm39) splice site probably benign
R2198:Ctse UTSW 1 131,600,185 (GRCm39) nonsense probably null
R4190:Ctse UTSW 1 131,590,479 (GRCm39) missense probably benign 0.02
R4668:Ctse UTSW 1 131,590,487 (GRCm39) missense probably damaging 1.00
R4971:Ctse UTSW 1 131,592,130 (GRCm39) missense probably damaging 1.00
R5070:Ctse UTSW 1 131,595,917 (GRCm39) missense probably damaging 1.00
R5499:Ctse UTSW 1 131,600,251 (GRCm39) nonsense probably null
R5705:Ctse UTSW 1 131,592,112 (GRCm39) missense possibly damaging 0.82
R7207:Ctse UTSW 1 131,592,112 (GRCm39) missense possibly damaging 0.82
R7828:Ctse UTSW 1 131,590,491 (GRCm39) missense probably damaging 1.00
R8157:Ctse UTSW 1 131,600,249 (GRCm39) missense probably damaging 1.00
R8237:Ctse UTSW 1 131,590,467 (GRCm39) missense probably benign 0.01
R8496:Ctse UTSW 1 131,592,118 (GRCm39) missense probably damaging 1.00
R9229:Ctse UTSW 1 131,595,862 (GRCm39) missense probably damaging 1.00
R9349:Ctse UTSW 1 131,592,111 (GRCm39) missense probably benign 0.00
X0067:Ctse UTSW 1 131,598,510 (GRCm39) missense probably damaging 1.00
Z1177:Ctse UTSW 1 131,600,182 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGTGAAAATCTGTGTGCCTATTTCC -3'
(R):5'- TTCATGGGCCTCAGAACCTTG -3'

Sequencing Primer
(F):5'- TATTTCCCCAGGAGGCTGAG -3'
(R):5'- GAAGTCTTATGTACCAGGCCATCTG -3'
Posted On 2020-07-28