Incidental Mutation 'IGL02522:Ctsa'
ID 296931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsa
Ensembl Gene ENSMUSG00000017760
Gene Name cathepsin A
Synonyms PPCA, Ppgb
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # IGL02522
Quality Score
Status
Chromosome 2
Chromosomal Location 164674793-164682952 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 164681061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017904] [ENSMUST00000059954] [ENSMUST00000103092] [ENSMUST00000103093] [ENSMUST00000109316] [ENSMUST00000109317] [ENSMUST00000143780] [ENSMUST00000152721] [ENSMUST00000127650]
AlphaFold P16675
Predicted Effect
SMART Domains Protein: ENSMUSP00000017904
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
Pfam:Peptidase_S10 52 489 2.5e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059954
SMART Domains Protein: ENSMUSP00000061519
Gene: ENSMUSG00000017754

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 25 243 5.93e-83 SMART
BPI2 258 460 1.35e-68 SMART
low complexity region 477 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103092
SMART Domains Protein: ENSMUSP00000099381
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 471 1.7e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103093
SMART Domains Protein: ENSMUSP00000099382
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 471 1.7e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109316
SMART Domains Protein: ENSMUSP00000104939
Gene: ENSMUSG00000017754

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 25 243 5.93e-83 SMART
BPI2 258 460 1.35e-68 SMART
low complexity region 477 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109317
SMART Domains Protein: ENSMUSP00000104940
Gene: ENSMUSG00000017754

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 25 191 1.77e-40 SMART
BPI2 206 408 1.35e-68 SMART
low complexity region 425 441 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133077
Predicted Effect probably benign
Transcript: ENSMUST00000143780
SMART Domains Protein: ENSMUSP00000123413
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 144 2.1e-52 PFAM
Pfam:Peptidase_S10 141 208 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152721
SMART Domains Protein: ENSMUSP00000119814
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
Pfam:Peptidase_S10 45 227 1.7e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127650
SMART Domains Protein: ENSMUSP00000115514
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 215 9.4e-81 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a glycoprotein with deamidase, esterase and carboxypeptidase activities. The encoded protein associates with and provides a protective function to the lysosomal enzymes beta-galactosidase and neuraminidase. Deficiency of the related gene in humans results in galactosialidosis. The proprotein is processed into two shorter chains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A G 10: 78,903,633 (GRCm39) S228P probably benign Het
Apba1 T C 19: 23,889,809 (GRCm39) probably benign Het
Arel1 T C 12: 84,974,684 (GRCm39) D486G probably damaging Het
Celf1 T C 2: 90,839,646 (GRCm39) V357A possibly damaging Het
Chd6 T C 2: 160,807,716 (GRCm39) S1833G probably benign Het
Dclk2 G A 3: 86,827,423 (GRCm39) P19S probably benign Het
Dpp10 T C 1: 123,351,381 (GRCm39) H308R probably benign Het
Dst A T 1: 34,289,781 (GRCm39) probably benign Het
Enpp2 A T 15: 54,762,336 (GRCm39) M201K probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Grip1 A G 10: 119,767,154 (GRCm39) D93G probably damaging Het
Hipk3 T C 2: 104,301,676 (GRCm39) K172R probably damaging Het
Hrob T C 11: 102,148,746 (GRCm39) S386P possibly damaging Het
Iqgap3 A G 3: 88,015,705 (GRCm39) N29S possibly damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Magi1 T C 6: 93,655,617 (GRCm39) D1127G possibly damaging Het
Pkhd1l1 A T 15: 44,419,298 (GRCm39) D2921V possibly damaging Het
Pla2r1 T A 2: 60,259,013 (GRCm39) Y1125F probably benign Het
Psg20 T A 7: 18,416,356 (GRCm39) L253F probably benign Het
Rdx A G 9: 51,979,504 (GRCm39) K209R possibly damaging Het
Rpsa A T 9: 119,960,121 (GRCm39) Q228L possibly damaging Het
Slc10a5 T C 3: 10,400,181 (GRCm39) I160V probably benign Het
Tec C T 5: 72,946,515 (GRCm39) V71I probably benign Het
Tln1 T C 4: 43,540,612 (GRCm39) E1463G probably benign Het
Trim12a C T 7: 103,950,038 (GRCm39) probably null Het
Vcan G T 13: 89,852,968 (GRCm39) T664K probably benign Het
Other mutations in Ctsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Ctsa APN 2 164,676,230 (GRCm39) unclassified probably benign
IGL02489:Ctsa APN 2 164,680,565 (GRCm39) missense probably damaging 0.96
IGL03008:Ctsa APN 2 164,679,368 (GRCm39) missense probably damaging 1.00
R2058:Ctsa UTSW 2 164,676,822 (GRCm39) missense probably null 0.00
R2402:Ctsa UTSW 2 164,676,813 (GRCm39) missense probably benign 0.36
R3123:Ctsa UTSW 2 164,677,152 (GRCm39) splice site probably null
R4270:Ctsa UTSW 2 164,677,222 (GRCm39) missense probably benign 0.00
R4588:Ctsa UTSW 2 164,676,070 (GRCm39) missense possibly damaging 0.62
R5236:Ctsa UTSW 2 164,680,831 (GRCm39) missense probably damaging 1.00
R5331:Ctsa UTSW 2 164,676,229 (GRCm39) unclassified probably benign
R6258:Ctsa UTSW 2 164,676,281 (GRCm39) missense probably damaging 1.00
R6260:Ctsa UTSW 2 164,676,281 (GRCm39) missense probably damaging 1.00
R6853:Ctsa UTSW 2 164,679,284 (GRCm39) missense probably benign 0.00
R7654:Ctsa UTSW 2 164,680,853 (GRCm39) missense probably benign 0.38
R7822:Ctsa UTSW 2 164,681,152 (GRCm39) makesense probably null
R9410:Ctsa UTSW 2 164,677,101 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16