Incidental Mutation 'R9072:Cst5'
ID 700788
Institutional Source Beutler Lab
Gene Symbol Cst5
Ensembl Gene ENSMUSG00000033156
Gene Name cystatin D
Synonyms DD72, Cst10
MMRRC Submission 068894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R9072 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 149247242-149252217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149249261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 104 (T104A)
Ref Sequence ENSEMBL: ENSMUSP00000043520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047008] [ENSMUST00000109938] [ENSMUST00000109939]
AlphaFold Q9JM84
Predicted Effect probably benign
Transcript: ENSMUST00000047008
AA Change: T104A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000043520
Gene: ENSMUSG00000033156
AA Change: T104A

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 146 4.13e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109938
AA Change: T104A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105564
Gene: ENSMUSG00000033156
AA Change: T104A

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

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 108 2.52e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (63/63)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,240,834 (GRCm39) E899A possibly damaging Het
Best2 T A 8: 85,737,418 (GRCm39) I230F probably damaging Het
C2cd2 T C 16: 97,676,403 (GRCm39) E448G probably damaging Het
C2cd3 T G 7: 100,040,291 (GRCm39) S287A probably benign Het
Camta2 G A 11: 70,567,234 (GRCm39) P677S probably benign Het
Cand2 C T 6: 115,769,490 (GRCm39) R767C probably damaging Het
Celsr3 G A 9: 108,704,293 (GRCm39) E259K probably benign Het
Cep250 C G 2: 155,834,035 (GRCm39) Q1987E probably benign Het
Chn1 T C 2: 73,443,430 (GRCm39) D440G probably benign Het
Cmbl A T 15: 31,585,449 (GRCm39) D111V possibly damaging Het
Col5a3 T A 9: 20,682,453 (GRCm39) I1664F unknown Het
Cp T C 3: 20,033,158 (GRCm39) S662P possibly damaging Het
Cpne5 G A 17: 29,430,677 (GRCm39) R78C probably damaging Het
Cyp11b2 A G 15: 74,725,662 (GRCm39) F195S possibly damaging Het
Dcaf17 T C 2: 70,920,136 (GRCm39) Y475H probably benign Het
Edem2 G C 2: 155,571,212 (GRCm39) L16V unknown Het
Eeig1 A G 2: 32,455,674 (GRCm39) S267G probably benign Het
Ext2 A G 2: 93,644,144 (GRCm39) W46R probably benign Het
Gal3st3 T A 19: 5,352,605 (GRCm39) S11T probably benign Het
Garin5b A T 7: 4,762,253 (GRCm39) H265Q Het
Gfi1 T A 5: 107,865,725 (GRCm39) I451F possibly damaging Het
Gfpt2 T C 11: 49,714,185 (GRCm39) L314P probably damaging Het
Gm3250 A T 10: 77,618,127 (GRCm39) C84S unknown Het
Hmcn1 A T 1: 150,565,320 (GRCm39) V2269E probably benign Het
Ighv1-55 T C 12: 115,172,013 (GRCm39) H18R probably benign Het
Iqgap3 G A 3: 87,998,883 (GRCm39) G328E probably benign Het
Klf6 G T 13: 5,917,233 (GRCm39) C303F probably benign Het
Klhl35 A T 7: 99,122,129 (GRCm39) S77C probably damaging Het
Ktn1 T G 14: 47,941,694 (GRCm39) V822G probably benign Het
Lbhd2 G T 12: 111,375,040 (GRCm39) G21W probably damaging Het
Lrp1b G A 2: 40,615,457 (GRCm39) R3649* probably null Het
Map2 C A 1: 66,453,312 (GRCm39) T734N probably damaging Het
Mas1 A G 17: 13,060,839 (GRCm39) F195L possibly damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Morc3 T C 16: 93,667,482 (GRCm39) V620A probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Nucb2 T A 7: 116,125,631 (GRCm39) I159N probably damaging Het
Olfm5 A G 7: 103,802,984 (GRCm39) L493P probably benign Het
Or1e1 T G 11: 73,244,797 (GRCm39) F73V probably damaging Het
Or2ag15 A T 7: 106,340,759 (GRCm39) C127* probably null Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Pcdhb22 T A 18: 37,651,813 (GRCm39) C94S probably damaging Het
Pcdhga5 A G 18: 37,829,537 (GRCm39) I662V probably benign Het
Plcb2 G A 2: 118,547,878 (GRCm39) T472M possibly damaging Het
Plcb4 A G 2: 135,849,795 (GRCm39) E1142G possibly damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Polr2l T C 7: 141,053,285 (GRCm39) Y43C probably damaging Het
Prkcb T A 7: 122,127,771 (GRCm39) N298K probably benign Het
Ptar1 T A 19: 23,695,414 (GRCm39) C294S probably benign Het
Ptprq T C 10: 107,401,736 (GRCm39) I1919V Het
Slc25a18 C T 6: 120,769,022 (GRCm39) R180C probably benign Het
Slc27a3 A C 3: 90,295,768 (GRCm39) S285R probably damaging Het
Smg1 C T 7: 117,783,032 (GRCm39) V1092I unknown Het
Spata19 T G 9: 27,309,024 (GRCm39) I54R possibly damaging Het
St6galnac5 T C 3: 152,551,956 (GRCm39) T204A probably benign Het
Tdpoz8 T A 3: 92,981,341 (GRCm39) C46S probably benign Het
Trpc3 T C 3: 36,694,831 (GRCm39) I708V probably benign Het
Ttn T C 2: 76,775,183 (GRCm39) E1999G unknown Het
Ube3b C T 5: 114,542,607 (GRCm39) T488M probably damaging Het
Vmn1r235 A T 17: 21,482,271 (GRCm39) I199F probably benign Het
Vsig8 A T 1: 172,388,340 (GRCm39) N215Y possibly damaging Het
Wapl A G 14: 34,399,417 (GRCm39) K162R possibly damaging Het
Wdpcp A G 11: 21,614,014 (GRCm39) T60A probably benign Het
Wdr26 A T 1: 181,010,351 (GRCm39) I566N probably damaging Het
Wdr46 C T 17: 34,163,555 (GRCm39) T371M probably benign Het
Zdbf2 T C 1: 63,344,923 (GRCm39) S1101P possibly damaging 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
R1596:Cst5 UTSW 2 149,247,329 (GRCm39) missense unknown
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
Predicted Primers
Posted On 2022-02-07