Incidental Mutation 'R4971:Ctse'
ID 384424
Institutional Source Beutler Lab
Gene Symbol Ctse
Ensembl Gene ENSMUSG00000004552
Gene Name cathepsin E
Synonyms A430072O03Rik, CE, C920004C08Rik, CatE
MMRRC Submission 042566-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4971 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 131566052-131603245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131592130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 152 (D152V)
Ref Sequence ENSEMBL: ENSMUSP00000108030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073350] [ENSMUST00000112411]
AlphaFold P70269
Predicted Effect probably damaging
Transcript: ENSMUST00000073350
AA Change: D152V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073072
Gene: ENSMUSG00000004552
AA Change: D152V

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: D152V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108030
Gene: ENSMUSG00000004552
AA Change: D152V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141061
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.7%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,524,190 (GRCm39) F1147L probably damaging Het
Abca2 T C 2: 25,332,006 (GRCm39) S1373P probably damaging Het
Abca9 A T 11: 110,042,874 (GRCm39) S392T probably benign Het
Abcd2 T C 15: 91,047,313 (GRCm39) D580G probably benign Het
Actl9 T A 17: 33,652,882 (GRCm39) L314H probably damaging Het
Adamtsl1 T C 4: 86,255,168 (GRCm39) F746L probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Cdkl3 T C 11: 51,901,995 (GRCm39) V68A possibly damaging Het
Cnot1 A G 8: 96,448,254 (GRCm39) F2266S probably damaging Het
Colq T C 14: 31,267,034 (GRCm39) R159G probably damaging Het
Cul7 G T 17: 46,970,045 (GRCm39) M1011I probably benign Het
Cyb5r4 G T 9: 86,939,224 (GRCm39) V336L possibly damaging Het
Dync2h1 A T 9: 7,131,949 (GRCm39) H1619Q probably benign Het
Eif2ak1 A G 5: 143,818,986 (GRCm39) K216E probably damaging Het
F5 A T 1: 164,021,755 (GRCm39) H1410L probably benign Het
Frem2 T C 3: 53,446,604 (GRCm39) Y2388C probably damaging Het
Fsip2 C T 2: 82,816,222 (GRCm39) T3985M probably benign Het
Gak T C 5: 108,744,672 (GRCm39) Y535C probably damaging Het
Gzmc G T 14: 56,469,826 (GRCm39) P158Q probably damaging Het
Hook3 A G 8: 26,572,607 (GRCm39) Y135H probably benign Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A T 6: 125,020,961 (GRCm39) M28L probably benign Het
Irs3 T A 5: 137,642,754 (GRCm39) D228V probably damaging Het
Jade1 T A 3: 41,555,836 (GRCm39) I301N probably damaging Het
Kif13b T A 14: 64,995,011 (GRCm39) M921K possibly damaging Het
Kmt2c A G 5: 25,515,870 (GRCm39) S2658P probably benign Het
Map3k4 A G 17: 12,468,382 (GRCm39) probably null Het
Map4k5 C T 12: 69,899,493 (GRCm39) V53I possibly damaging Het
Mdn1 T C 4: 32,739,827 (GRCm39) S3694P probably damaging Het
Mroh7 A G 4: 106,548,749 (GRCm39) V1038A probably benign Het
Muc5ac T C 7: 141,370,015 (GRCm39) V3185A possibly damaging Het
Mup5 T A 4: 61,751,297 (GRCm39) N117I probably benign Het
Myo19 T A 11: 84,783,023 (GRCm39) M179K probably damaging Het
Myo1c A G 11: 75,562,414 (GRCm39) Y902C probably damaging Het
Nf1 T A 11: 79,335,469 (GRCm39) I977K probably damaging Het
Nos1 T C 5: 118,081,899 (GRCm39) V1240A probably benign Het
Nr3c1 T C 18: 39,619,930 (GRCm39) D119G probably damaging Het
Oga C A 19: 45,758,485 (GRCm39) probably null Het
Or4c107 A T 2: 88,788,863 (GRCm39) N18Y probably damaging Het
Pdlim2 A G 14: 70,405,208 (GRCm39) V219A probably damaging Het
Pira13 T A 7: 3,825,805 (GRCm39) M355L probably benign Het
Polr1g T C 7: 19,091,487 (GRCm39) N207D probably benign Het
Prdx1 T C 4: 116,549,128 (GRCm39) probably null Het
Rbfox1 C T 16: 7,111,952 (GRCm39) R173C probably damaging Het
Rbp3 T A 14: 33,676,427 (GRCm39) V125D probably damaging Het
Resf1 T C 6: 149,227,097 (GRCm39) probably benign Het
Rhot1 T A 11: 80,124,300 (GRCm39) I154K probably damaging Het
Runx1t1 C T 4: 13,837,978 (GRCm39) R129C probably damaging Het
Setbp1 A G 18: 78,901,382 (GRCm39) S762P probably benign Het
Slc13a3 A G 2: 165,290,619 (GRCm39) I67T probably damaging Het
Tbc1d2b A T 9: 90,100,923 (GRCm39) M689K probably benign Het
Top2a T C 11: 98,884,667 (GRCm39) Y1517C probably damaging Het
Txndc2 A T 17: 65,945,849 (GRCm39) N109K probably damaging Het
Tyk2 A G 9: 21,031,797 (GRCm39) probably null Het
Wdfy3 A T 5: 102,096,838 (GRCm39) L320* probably null Het
Zfp456 T C 13: 67,514,995 (GRCm39) E237G probably benign Het
Zscan10 A G 17: 23,826,147 (GRCm39) E103G possibly damaging 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
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
R8270:Ctse UTSW 1 131,595,877 (GRCm39) missense probably damaging 1.00
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'- CCCATCTTCAACCTAGTGTGGG -3'
(R):5'- GCTCTCTAGGTTCAGCATCC -3'

Sequencing Primer
(F):5'- CTTCAACCTAGTGTGGGGAGCAG -3'
(R):5'- GCATCCTGCAAAGATGGCC -3'
Posted On 2016-04-27