Incidental Mutation 'IGL02021:Ctsd'
ID183959
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 #IGL02021
Quality Score
Status
Chromosome7
Chromosomal Location142375911-142388038 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 142385476 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 71 (L71I)
Ref Sequence ENSEMBL: ENSMUSP00000121203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066401] [ENSMUST00000151120]
Predicted Effect probably damaging
Transcript: ENSMUST00000066401
AA Change: L71I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063904
Gene: ENSMUSG00000007891
AA Change: L71I

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: ENSMUST00000133843
SMART Domains Protein: ENSMUSP00000117247
Gene: ENSMUSG00000110040

DomainStartEndE-ValueType
Pfam:Asp 1 249 4.5e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000151120
AA Change: L71I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891
AA Change: L71I

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 noncoding transcript
Transcript: ENSMUST00000153679
Predicted Effect probably benign
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik G A 12: 3,407,890 probably benign Het
Adam10 C T 9: 70,743,909 T72I possibly damaging Het
Adam26b T A 8: 43,519,872 M698L probably benign Het
Ankrd27 A T 7: 35,614,456 H404L probably damaging Het
Atp1a1 T C 3: 101,594,208 S60G probably benign Het
Bcat1 T C 6: 145,047,289 probably benign Het
Cd177 G A 7: 24,745,206 A650V probably benign Het
Cmya5 T C 13: 93,094,549 N1344D probably benign Het
Dctn2 T C 10: 127,275,057 probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Duoxa1 A G 2: 122,304,646 F251S probably benign Het
Fcho1 A C 8: 71,721,275 S2A probably benign Het
Gm4861 T C 3: 137,552,110 probably null Het
Gm4922 C A 10: 18,784,477 G166W probably damaging Het
Hic2 A G 16: 17,258,753 E482G probably benign Het
Hoxa5 C T 6: 52,202,657 R246K probably damaging Het
Ipo11 A T 13: 106,857,237 F721I probably damaging Het
Lama1 A T 17: 67,821,626 S2993C probably damaging Het
Lonp2 T A 8: 86,708,971 S612T probably benign Het
Lpar5 T G 6: 125,081,992 Y225* probably null Het
Map4k3 A G 17: 80,609,826 Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 E296G probably damaging Het
Ncs1 A G 2: 31,284,165 D109G probably damaging Het
Nnt T C 13: 119,336,247 probably benign Het
Nr1h5 T C 3: 102,947,742 probably benign Het
Olfr1288 A G 2: 111,479,480 D232G probably benign Het
Olfr704 A T 7: 106,865,489 K170* probably null Het
Plk4 A G 3: 40,810,708 D595G probably damaging Het
Rbm17 C A 2: 11,595,438 probably benign Het
Slc24a3 T A 2: 145,518,916 I193N probably damaging Het
St5 T C 7: 109,557,372 Y57C probably damaging Het
Stat5a G T 11: 100,883,889 V759F probably damaging Het
Tgfbi T A 13: 56,631,353 L463Q probably damaging Het
Tigar G T 6: 127,089,290 A95E probably damaging Het
Tph1 A G 7: 46,656,997 I180T possibly damaging Het
Usp22 T A 11: 61,154,499 Y517F probably damaging Het
Vmn2r105 A C 17: 20,227,895 I222M possibly damaging Het
Wapl A G 14: 34,722,336 I582V probably benign Het
Zfp217 A G 2: 170,115,149 V643A probably benign Het
Other mutations in Ctsd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Ctsd APN 7 142382681 missense probably damaging 1.00
IGL01963:Ctsd APN 7 142376599 critical splice donor site probably null
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
R7426:Ctsd UTSW 7 142383541 missense probably damaging 0.96
R7499:Ctsd UTSW 7 142383412 splice site probably null
R7829:Ctsd UTSW 7 142377142 missense probably damaging 1.00
X0025:Ctsd UTSW 7 142376844 missense probably damaging 1.00
Z1088:Ctsd UTSW 7 142376597 missense probably damaging 1.00
Posted On2014-05-07