Incidental Mutation 'R5533:Ctsd'
ID433753
Institutional Source Beutler Lab
Gene Symbol Ctsd
Ensembl Gene ENSMUSG00000007891
Gene Namecathepsin D
SynonymsCD, CatD
MMRRC Submission 043091-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5533 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location142375911-142388038 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 142377333 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 274 (Q274R)
Ref Sequence ENSEMBL: ENSMUSP00000121203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059223] [ENSMUST00000066401] [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 benign
Transcript: ENSMUST00000066401
SMART Domains Protein: ENSMUSP00000063904
Gene: ENSMUSG00000007891

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: 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 unknown
Transcript: ENSMUST00000133843
AA Change: Q142R
SMART Domains Protein: ENSMUSP00000117247
Gene: ENSMUSG00000110040
AA Change: Q142R

DomainStartEndE-ValueType
Pfam:Asp 1 249 4.5e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151120
AA Change: Q274R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891
AA Change: Q274R

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 unknown
Transcript: ENSMUST00000209263
AA Change: Q74R
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.1%
  • 10x: 94.5%
  • 20x: 88.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 A G 10: 127,083,042 E429G unknown Het
Akap12 T A 10: 4,357,405 V1405D probably damaging Het
Akap7 C T 10: 25,283,982 D107N possibly damaging Het
Arfgef1 A G 1: 10,199,727 probably null Het
Cacna1s T A 1: 136,098,375 probably null Het
Casc4 AGATGGTGATGGTG AGATGGTG 2: 121,925,697 probably benign Het
Dysf G A 6: 84,186,471 R1575Q probably damaging Het
Erich6b A T 14: 75,658,834 L53F possibly damaging Het
Exoc6 A C 19: 37,593,770 probably null Het
Fbxw19 A T 9: 109,486,065 V143E probably benign Het
Fkbpl G A 17: 34,645,329 A24T probably benign Het
Fndc1 A G 17: 7,772,776 F696S unknown Het
Foxa3 G T 7: 19,015,015 Y102* probably null Het
Foxn1 A G 11: 78,365,966 M301T probably damaging Het
Foxp2 C T 6: 15,197,120 Q54* probably null Het
Glra1 T C 11: 55,532,382 E117G possibly damaging Het
Glt1d1 A T 5: 127,691,031 D234V probably damaging Het
Gm597 T A 1: 28,778,082 I290F probably damaging Het
Gulp1 T C 1: 44,773,281 I137T probably damaging Het
Itga8 A G 2: 12,160,350 V816A possibly damaging Het
Kdm4c G A 4: 74,315,649 probably benign Het
Krtap19-2 A G 16: 88,874,108 probably benign Het
Lcorl T C 5: 45,733,877 N378S possibly damaging Het
Ltbr G A 6: 125,312,794 R146W probably damaging Het
Mocos T C 18: 24,674,300 L363P probably damaging Het
Mycbp2 G T 14: 103,282,645 Y745* probably null Het
Nav3 A C 10: 109,883,678 N141K possibly damaging Het
Ncor1 T C 11: 62,343,011 N779S probably benign Het
Nebl G T 2: 17,393,268 Y414* probably null Het
Nf1 T G 11: 79,445,789 C1065G probably damaging Het
Nfib A G 4: 82,359,767 V216A probably damaging Het
Nub1 A T 5: 24,702,381 N354I possibly damaging Het
Nyap1 C T 5: 137,735,464 V436I probably benign Het
Olfr1029 A G 2: 85,975,453 D70G possibly damaging Het
Olfr498 T C 7: 108,466,262 F313L probably benign Het
Pde2a T A 7: 101,505,980 M570K probably damaging Het
Pfas T C 11: 68,991,470 S856G probably benign Het
Pkd1l2 T C 8: 117,068,116 E368G probably benign Het
Ptf1a G A 2: 19,447,158 V323M probably damaging Het
Ptprh T C 7: 4,549,505 Y920C probably damaging Het
Sergef T A 7: 46,614,776 D229V possibly damaging Het
Slc1a4 T C 11: 20,304,417 K483R probably benign Het
Slc26a6 G A 9: 108,857,956 R351H probably damaging Het
Slc6a19 G A 13: 73,685,829 T370I possibly damaging Het
Smpd5 T C 15: 76,294,557 S42P possibly damaging Het
Snx13 G A 12: 35,123,026 probably null Het
Sox10 G A 15: 79,156,302 S185L probably benign Het
Srpk1 T C 17: 28,602,759 Y227C probably damaging Het
Stambpl1 T A 19: 34,233,916 probably null Het
Stk36 A G 1: 74,626,591 R698G possibly damaging Het
Tas2r122 T A 6: 132,711,430 T167S probably damaging Het
Tlr12 A G 4: 128,615,863 S865P probably damaging Het
Trp53bp1 A G 2: 121,207,746 L1537P probably damaging Het
Vstm2a C A 11: 16,263,125 T170K possibly damaging Het
Xpo7 A T 14: 70,693,967 F304I probably damaging Het
Zfp286 T C 11: 62,780,970 probably benign Het
Zfp985 A T 4: 147,582,983 K103* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTGTGTCCACAATAGCCTC -3'
(R):5'- TGCTGACACTTCTGAACTAGTG -3'

Sequencing Primer
(F):5'- CTTGCACAGGGTCAGCTCATTG -3'
(R):5'- GGGTAGAAGCTGATCACTTACTTCC -3'
Posted On2016-10-06