Incidental Mutation 'R5705:Ctse'
ID 451898
Institutional Source Beutler Lab
Gene Symbol Ctse
Ensembl Gene ENSMUSG00000004552
Gene Name cathepsin E
Synonyms A430072O03Rik, CE, C920004C08Rik, CatE
MMRRC Submission 043330-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5705 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 131566052-131603245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 131592112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 146 (T146K)
Ref Sequence ENSEMBL: ENSMUSP00000108030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073350] [ENSMUST00000112411]
AlphaFold P70269
Predicted Effect possibly damaging
Transcript: ENSMUST00000073350
AA Change: T146K

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073072
Gene: ENSMUSG00000004552
AA Change: T146K

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 possibly damaging
Transcript: ENSMUST00000112411
AA Change: T146K

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108030
Gene: ENSMUSG00000004552
AA Change: T146K

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,851,276 (GRCm39) V2163A probably benign Het
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Ago1 T C 4: 126,342,587 (GRCm39) I519V probably benign Het
Arhgap4 G A X: 72,950,423 (GRCm39) R43W probably damaging Het
Aurkb T A 11: 68,939,641 (GRCm39) L213I possibly damaging Het
Bod1l T A 5: 41,974,345 (GRCm39) Q2323L probably benign Het
Calhm5 A T 10: 33,971,989 (GRCm39) C149S probably damaging Het
Ccdc17 C T 4: 116,454,066 (GRCm39) T28I probably benign Het
Ccdc39 T C 3: 33,871,086 (GRCm39) E630G probably damaging Het
Cnih4 A G 1: 180,981,300 (GRCm39) I24V probably benign Het
Ctsr A G 13: 61,309,078 (GRCm39) F226L probably damaging Het
Cyp2a22 T C 7: 26,638,640 (GRCm39) N49D probably benign Het
Defb23 C T 2: 152,301,204 (GRCm39) A123T probably benign Het
Dtx2 C A 5: 136,039,149 (GRCm39) D69E probably damaging Het
Eps8l1 T C 7: 4,473,034 (GRCm39) V91A probably benign Het
Eps8l3 C A 3: 107,798,580 (GRCm39) Q489K probably benign Het
Esyt3 A G 9: 99,200,260 (GRCm39) S645P probably benign Het
Fam161a T A 11: 22,978,869 (GRCm39) M472K unknown Het
Glp2r A G 11: 67,600,565 (GRCm39) V428A probably benign Het
Gnl1 G A 17: 36,292,492 (GRCm39) V191I probably benign Het
Hfm1 T C 5: 107,059,319 (GRCm39) I234M probably benign Het
Hlx T C 1: 184,463,062 (GRCm39) T197A probably benign Het
Hs3st2 T C 7: 120,992,305 (GRCm39) L85P probably damaging Het
Igsf9 T C 1: 172,322,338 (GRCm39) V511A possibly damaging Het
Insyn2b A G 11: 34,354,349 (GRCm39) Y473C probably damaging Het
Kcnma1 A T 14: 24,053,839 (GRCm39) C54S possibly damaging Het
Klhdc4 A G 8: 122,531,732 (GRCm39) V181A probably benign Het
Ldb3 T C 14: 34,298,986 (GRCm39) M213V probably null Het
Mertk C A 2: 128,613,321 (GRCm39) Q446K probably benign Het
Ndufs1 A G 1: 63,186,317 (GRCm39) V46A probably benign Het
Neurod4 A G 10: 130,107,271 (GRCm39) M1T probably null Het
Nlrc5 T A 8: 95,202,385 (GRCm39) C162S probably benign Het
Pald1 A G 10: 61,159,076 (GRCm39) I785T possibly damaging Het
Pcmt1 T C 10: 7,513,954 (GRCm39) I224M possibly damaging Het
Pisd C T 5: 32,894,707 (GRCm39) R533H probably benign Het
Plcxd3 C A 15: 4,546,676 (GRCm39) Q227K probably benign Het
Polr1b A T 2: 128,947,271 (GRCm39) K199* probably null Het
Ppp1r10 T C 17: 36,240,381 (GRCm39) V557A probably damaging Het
Ralgapa2 A G 2: 146,291,193 (GRCm39) Y248H probably damaging Het
Rsrp1 T C 4: 134,651,331 (GRCm39) S32P unknown Het
Setdb2 T G 14: 59,660,814 (GRCm39) S110R possibly damaging Het
Srcin1 A G 11: 97,439,777 (GRCm39) C152R probably benign Het
Syk A G 13: 52,765,083 (GRCm39) N70S probably benign Het
Tlr4 T A 4: 66,752,217 (GRCm39) D59E probably damaging Het
Tm9sf4 T A 2: 153,024,378 (GRCm39) I67N probably benign Het
Trim30b T A 7: 104,006,784 (GRCm39) Y24F probably damaging Het
Tsga13 A G 6: 30,876,951 (GRCm39) S189P probably damaging Het
Tspan33 A G 6: 29,717,232 (GRCm39) D210G probably benign Het
Use1 G T 8: 71,822,331 (GRCm39) R278L probably damaging Het
Wwc1 T C 11: 35,767,423 (GRCm39) N403D probably damaging Het
Zfp263 C T 16: 3,564,318 (GRCm39) P203S 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
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'- AGCCCCATCTTCAACCTAGTG -3'
(R):5'- CTCTAGGTTCAGCATCCTGC -3'

Sequencing Primer
(F):5'- CCATCTTCAACCTAGTGTGGGGAG -3'
(R):5'- ACCGGGCTATCTCAGGTAGAAC -3'
Posted On 2017-01-03