Incidental Mutation 'R1596:Cst5'
ID 175786
Institutional Source Beutler Lab
Gene Symbol Cst5
Ensembl Gene ENSMUSG00000033156
Gene Name cystatin D
Synonyms DD72, Cst10
MMRRC Submission 039633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1596 (G1)
Quality Score 185
Status Validated
Chromosome 2
Chromosomal Location 149247242-149252217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149247329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 15 (V15A)
Ref Sequence ENSEMBL: ENSMUSP00000105565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047008] [ENSMUST00000109938] [ENSMUST00000109939]
AlphaFold Q9JM84
Predicted Effect unknown
Transcript: ENSMUST00000047008
AA Change: V15A
SMART Domains Protein: ENSMUSP00000043520
Gene: ENSMUSG00000033156
AA Change: V15A

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 146 4.13e-35 SMART
Predicted Effect unknown
Transcript: ENSMUST00000109938
AA Change: V15A
SMART Domains Protein: ENSMUSP00000105564
Gene: ENSMUSG00000033156
AA Change: V15A

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 146 4.13e-35 SMART
Predicted Effect unknown
Transcript: ENSMUST00000109939
AA Change: V15A
SMART Domains Protein: ENSMUSP00000105565
Gene: ENSMUSG00000033156
AA Change: V15A

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 108 2.52e-7 SMART
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 87.7%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display reduced chondrocyte calcification during endochondral ossification both under physiological and pathological conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik A G 15: 37,426,018 (GRCm39) probably benign Het
Abca8a T A 11: 109,958,886 (GRCm39) Y745F possibly damaging Het
Abl1 A G 2: 31,680,350 (GRCm39) N316S probably damaging Het
Ackr2 T C 9: 121,738,278 (GRCm39) F218L probably damaging Het
Adam6b T A 12: 113,454,646 (GRCm39) Y488N probably damaging Het
Arhgap10 A G 8: 78,177,326 (GRCm39) I103T possibly damaging Het
Atm A G 9: 53,364,678 (GRCm39) V2669A probably damaging Het
Atp10b A G 11: 43,126,594 (GRCm39) K1117E probably damaging Het
Brinp3 T C 1: 146,390,520 (GRCm39) V22A probably benign Het
Casp8 G T 1: 58,870,833 (GRCm39) probably benign Het
Ccdc178 T A 18: 22,153,930 (GRCm39) K626N possibly damaging Het
Clcn6 T A 4: 148,107,836 (GRCm39) S193C probably damaging Het
Col11a1 C T 3: 113,946,262 (GRCm39) probably benign Het
Csn1s2b T A 5: 87,966,917 (GRCm39) probably benign Het
Cttnbp2 A G 6: 18,408,591 (GRCm39) F1010S probably damaging Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dsg1c A G 18: 20,415,104 (GRCm39) Y667C probably damaging Het
Ep400 A T 5: 110,856,727 (GRCm39) probably benign Het
Fam83c C T 2: 155,672,982 (GRCm39) probably null Het
Fbxw20 C T 9: 109,050,368 (GRCm39) C419Y probably damaging Het
Fgd2 G A 17: 29,595,904 (GRCm39) V521I probably benign Het
Frrs1 A G 3: 116,676,848 (GRCm39) probably benign Het
Gli3 C A 13: 15,900,056 (GRCm39) Q1148K possibly damaging Het
Hdac5 G T 11: 102,095,482 (GRCm39) probably null Het
Ice1 C T 13: 70,753,014 (GRCm39) R1024H possibly damaging Het
Irak3 A T 10: 120,018,451 (GRCm39) I99N probably damaging Het
Klhl31 A G 9: 77,557,356 (GRCm39) D24G probably damaging Het
Lrba C T 3: 86,257,611 (GRCm39) Q1292* probably null Het
Map1a C T 2: 121,120,246 (GRCm39) A44V probably benign Het
Mbd2 T A 18: 70,749,703 (GRCm39) M306K probably damaging Het
Mrc1 C T 2: 14,253,701 (GRCm39) H241Y possibly damaging Het
Mrgprg A G 7: 143,318,431 (GRCm39) F227S possibly damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Ncf4 G A 15: 78,134,637 (GRCm39) E30K probably damaging Het
Nlrp4c C A 7: 6,069,777 (GRCm39) D559E probably benign Het
Nxpe4 T A 9: 48,307,855 (GRCm39) W320R probably damaging Het
Or10a3n T A 7: 108,493,086 (GRCm39) H176L probably damaging Het
Or52n4b T A 7: 108,144,290 (GRCm39) M184K possibly damaging Het
Or6z5 T C 7: 6,477,514 (GRCm39) L135P probably damaging Het
Pdzrn3 A G 6: 101,127,966 (GRCm39) V900A probably benign Het
Prcp T C 7: 92,567,042 (GRCm39) probably benign Het
Prkaa2 A T 4: 104,893,526 (GRCm39) D474E probably damaging Het
Prl3a1 A G 13: 27,443,600 (GRCm39) probably benign Het
Ptpra T A 2: 130,386,872 (GRCm39) Y624N probably damaging Het
Ramp1 T C 1: 91,151,022 (GRCm39) V129A possibly damaging Het
Reep1 G T 6: 71,733,421 (GRCm39) probably null Het
Robo3 C T 9: 37,335,928 (GRCm39) probably null Het
Sapcd2 T A 2: 25,266,422 (GRCm39) I403N probably damaging Het
Sdk2 T A 11: 113,729,435 (GRCm39) probably benign Het
Serpinb3a T C 1: 106,974,904 (GRCm39) M210V probably benign Het
Slc45a3 T A 1: 131,909,267 (GRCm39) I488N probably damaging Het
Tnrc6c C T 11: 117,648,867 (GRCm39) P1513S probably damaging Het
Trank1 T A 9: 111,195,358 (GRCm39) H1127Q possibly damaging Het
Trim67 T C 8: 125,552,878 (GRCm39) V660A probably damaging Het
Ubash3b A G 9: 40,942,793 (GRCm39) I233T probably benign Het
Unkl A G 17: 25,424,707 (GRCm39) R245G probably null Het
Other mutations in Cst5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Cst5 APN 2 149,247,293 (GRCm39) missense unknown
IGL00500:Cst5 APN 2 149,247,501 (GRCm39) missense probably damaging 0.98
IGL00645:Cst5 APN 2 149,251,899 (GRCm39) missense probably damaging 1.00
R4810:Cst5 UTSW 2 149,247,463 (GRCm39) nonsense probably null
R7468:Cst5 UTSW 2 149,247,496 (GRCm39) missense probably benign 0.30
R7469:Cst5 UTSW 2 149,247,496 (GRCm39) missense probably benign 0.30
R7471:Cst5 UTSW 2 149,247,496 (GRCm39) missense probably benign 0.30
R7472:Cst5 UTSW 2 149,247,496 (GRCm39) missense probably benign 0.30
R8224:Cst5 UTSW 2 149,251,902 (GRCm39) missense possibly damaging 0.95
R9072:Cst5 UTSW 2 149,249,261 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGTAGAGTCCAAGGTGACCTGGAG -3'
(R):5'- CGCTCATCAGTCGTATTGGCTTGC -3'

Sequencing Primer
(F):5'- CTAGGACTTATGAAAAGAGAGCCC -3'
(R):5'- CTTGCTAAGATACAGGTCATTGTCC -3'
Posted On 2014-04-24