Incidental Mutation 'IGL02489:Ctsa'
ID295550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsa
Ensembl Gene ENSMUSG00000017760
Gene Namecathepsin A
SynonymsPpgb, PPCA
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.330) question?
Stock #IGL02489
Quality Score
Status
Chromosome2
Chromosomal Location164832873-164841032 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 164838645 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 402 (Y402C)
Ref Sequence ENSEMBL: ENSMUSP00000099381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017904] [ENSMUST00000059954] [ENSMUST00000103092] [ENSMUST00000103093] [ENSMUST00000109316] [ENSMUST00000109317] [ENSMUST00000127650] [ENSMUST00000151493] [ENSMUST00000152721] [ENSMUST00000143780]
Predicted Effect probably damaging
Transcript: ENSMUST00000017904
AA Change: Y402C

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017904
Gene: ENSMUSG00000017760
AA Change: Y402C

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 damaging
Transcript: ENSMUST00000103092
AA Change: Y402C

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099381
Gene: ENSMUSG00000017760
AA Change: Y402C

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 471 1.7e-139 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000103093
AA Change: Y384C

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099382
Gene: ENSMUSG00000017760
AA Change: Y384C

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147883
Predicted Effect probably benign
Transcript: ENSMUST00000151493
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: 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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,054,215 probably benign Het
Aldh6a1 T C 12: 84,433,972 T430A possibly damaging Het
Ankrd6 T C 4: 32,810,298 D426G probably damaging Het
Arhgef37 A G 18: 61,506,469 S280P possibly damaging Het
Bicd1 T C 6: 149,513,037 L416P probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpp T C 13: 49,650,118 probably null Het
Col5a2 T C 1: 45,392,811 probably null Het
Dnah7a A G 1: 53,647,322 V223A possibly damaging Het
Dnajb3 G T 1: 88,205,310 N123K probably benign Het
Fhad1 G T 4: 141,957,620 N469K probably damaging Het
Fmo3 G T 1: 162,954,287 T499K possibly damaging Het
Gm10100 G A 10: 77,726,811 C109Y probably benign Het
Lrrc27 G T 7: 139,226,061 R214L probably benign Het
Mc5r T A 18: 68,339,526 C319S probably damaging Het
Nwd2 A C 5: 63,805,227 Y718S probably damaging Het
Olfr1097 T G 2: 86,890,995 Y60S probably damaging Het
Ppa1 T A 10: 61,665,444 D163E probably damaging Het
Ptprk G T 10: 28,383,472 G303W probably damaging Het
Rnf182 T C 13: 43,668,303 L110P probably damaging Het
Slc12a2 T C 18: 57,912,002 F659S probably damaging Het
Slc5a3 T A 16: 92,077,705 Y217N possibly damaging Het
Ttc41 G T 10: 86,760,914 E1008* probably null Het
Unc80 T C 1: 66,525,701 M849T probably benign Het
Vmn2r76 A T 7: 86,228,863 I442N probably benign Het
Other mutations in Ctsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Ctsa APN 2 164834310 unclassified probably benign
IGL02522:Ctsa APN 2 164839141 unclassified probably benign
IGL03008:Ctsa APN 2 164837448 missense probably damaging 1.00
R2058:Ctsa UTSW 2 164834902 missense probably null 0.00
R2402:Ctsa UTSW 2 164834893 missense probably benign 0.36
R3123:Ctsa UTSW 2 164835232 splice site probably null
R4270:Ctsa UTSW 2 164835302 missense probably benign 0.00
R4588:Ctsa UTSW 2 164834150 missense possibly damaging 0.62
R5236:Ctsa UTSW 2 164838911 missense probably damaging 1.00
R5331:Ctsa UTSW 2 164834309 unclassified probably benign
R6258:Ctsa UTSW 2 164834361 missense probably damaging 1.00
R6260:Ctsa UTSW 2 164834361 missense probably damaging 1.00
R6853:Ctsa UTSW 2 164837364 missense probably benign 0.00
R7654:Ctsa UTSW 2 164838933 missense probably benign 0.38
R7822:Ctsa UTSW 2 164839232 makesense probably null
Posted On2015-04-16