Incidental Mutation 'IGL01963:Ctsd'
ID182475
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsd
Ensembl Gene ENSMUSG00000007891
Gene Namecathepsin D
SynonymsCD, CatD
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01963
Quality Score
Status
Chromosome7
Chromosomal Location142375911-142388038 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 142376599 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000059223] [ENSMUST00000066401] [ENSMUST00000084412] [ENSMUST00000105988] [ENSMUST00000151120]
Predicted Effect probably benign
Transcript: ENSMUST00000059223
SMART Domains Protein: ENSMUSP00000062728
Gene: ENSMUSG00000045777

DomainStartEndE-ValueType
Pfam:Dispanin 38 108 6.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000066401
AA Change: V396A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063904
Gene: ENSMUSG00000007891
AA Change: V396A

DomainStartEndE-ValueType
Pfam:A1_Propeptide 21 49 1.7e-11 PFAM
Pfam:Asp 78 274 1.6e-75 PFAM
Pfam:TAXi_N 79 246 2.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084412
SMART Domains Protein: ENSMUSP00000081450
Gene: ENSMUSG00000045777

DomainStartEndE-ValueType
Pfam:Dispanin 38 121 9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105988
SMART Domains Protein: ENSMUSP00000101608
Gene: ENSMUSG00000045777

DomainStartEndE-ValueType
low complexity region 53 74 N/A INTRINSIC
Pfam:CD225 115 191 2.4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123543
Predicted Effect probably benign
Transcript: ENSMUST00000133843
SMART Domains Protein: ENSMUSP00000117247
Gene: ENSMUSG00000110040

DomainStartEndE-ValueType
Pfam:Asp 1 249 4.5e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140032
Predicted Effect probably damaging
Transcript: ENSMUST00000151120
AA Change: V402A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891
AA Change: V402A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:A1_Propeptide 21 48 6.9e-11 PFAM
Pfam:Asp 78 407 4.7e-123 PFAM
Pfam:TAXi_N 79 247 2.1e-10 PFAM
Pfam:TAXi_C 326 406 6.4e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000209263
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null mutation die in a state of anorexia at ~P26, displaying severe atrophy of the intestinal mucosa, and massive destruction of the thymus and spleen with loss of T and B cells; near the terminal stage, affected mice have seizures,display retinal atrophy, and become blind. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 G130D probably damaging Het
Abca8b T A 11: 109,971,763 D392V probably damaging Het
Clptm1l T A 13: 73,617,569 probably benign Het
Creb3l1 G A 2: 91,993,333 T178I probably benign Het
Dcstamp A T 15: 39,760,359 I401F possibly damaging Het
Dnah5 A G 15: 28,370,536 D2874G probably benign Het
Fgfr1op A T 17: 8,192,277 D354V probably damaging Het
Fli1 T A 9: 32,424,207 K310* probably null Het
Fndc4 C T 5: 31,295,212 probably null Het
Fuk A G 8: 110,893,402 F281S probably damaging Het
Gc G A 5: 89,422,122 probably benign Het
Krtap26-1 A G 16: 88,647,668 C22R probably damaging Het
Obscn C T 11: 59,020,541 G6422S probably benign Het
Olfr1444 T A 19: 12,862,382 F202L probably benign Het
Olfr418 T A 1: 173,270,352 M59K probably damaging Het
Olfr975 C A 9: 39,950,240 C177F probably damaging Het
Pgr C T 9: 8,922,668 P613L probably damaging Het
Pnpla8 C A 12: 44,296,033 A524E possibly damaging Het
Psma2 A T 13: 14,619,363 I105F probably damaging Het
Ptprg A G 14: 12,220,661 R458G probably damaging Het
Rbm44 A G 1: 91,163,108 I755V probably benign Het
Rev3l A G 10: 39,822,737 K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 probably benign Het
Sel1l3 A C 5: 53,200,338 V104G probably damaging Het
Sirpb1c T C 3: 15,838,773 N89S probably benign Het
Slc25a16 G A 10: 62,930,441 probably null Het
Sulf1 C T 1: 12,818,507 R339C probably damaging Het
Tedc2 C T 17: 24,217,952 A270T probably benign Het
Trem3 T C 17: 48,247,852 S2P possibly damaging Het
Vps37a G T 8: 40,540,730 Q255H probably damaging Het
Zfp352 C T 4: 90,224,154 A177V possibly damaging Het
Other mutations in Ctsd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Ctsd APN 7 142382681 missense probably damaging 1.00
IGL02021:Ctsd APN 7 142385476 missense probably damaging 0.99
twiggy UTSW 7 142377144 missense probably damaging 1.00
R5161:Ctsd UTSW 7 142377144 missense probably damaging 1.00
R5533:Ctsd UTSW 7 142377333 missense probably benign 0.00
R5762:Ctsd UTSW 7 142383529 missense probably damaging 1.00
R5933:Ctsd UTSW 7 142376579 missense probably benign 0.00
R6031:Ctsd UTSW 7 142376714 missense probably damaging 1.00
R6365:Ctsd UTSW 7 142385577 missense probably benign 0.37
R6721:Ctsd UTSW 7 142376853 missense possibly damaging 0.77
X0025:Ctsd UTSW 7 142376844 missense probably damaging 1.00
Z1088:Ctsd UTSW 7 142376597 missense probably damaging 1.00
Posted On2014-05-07