Incidental Mutation 'R7471:Cst5'
ID 579172
Institutional Source Beutler Lab
Gene Symbol Cst5
Ensembl Gene ENSMUSG00000033156
Gene Name cystatin D
Synonyms DD72, Cst10
MMRRC Submission 045545-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R7471 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 149247242-149252217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 149247496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 71 (L71F)
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: L71F

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000043520
Gene: ENSMUSG00000033156
AA Change: L71F

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: L71F

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105564
Gene: ENSMUSG00000033156
AA Change: L71F

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 146 4.13e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109939
AA Change: L71F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105565
Gene: ENSMUSG00000033156
AA Change: L71F

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 108 2.52e-7 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (73/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,168,608 (GRCm39) probably null Het
Ace T C 11: 105,864,308 (GRCm39) V483A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Angptl2 A T 2: 33,133,751 (GRCm39) T358S possibly damaging Het
Apoh C T 11: 108,298,131 (GRCm39) P144S probably damaging Het
Arid1a A G 4: 133,408,355 (GRCm39) W1666R unknown Het
Asap3 A G 4: 135,960,957 (GRCm39) H223R possibly damaging Het
Bcl2l12 A G 7: 44,645,977 (GRCm39) S81P possibly damaging Het
Brd10 A C 19: 29,707,139 (GRCm39) probably null Het
C8a A G 4: 104,674,822 (GRCm39) S550P probably benign Het
Cacna2d1 C G 5: 16,139,973 (GRCm39) probably benign Het
Ccdc170 A G 10: 4,470,803 (GRCm39) T216A probably benign Het
Chd7 A T 4: 8,859,197 (GRCm39) K2429I probably damaging Het
Chd8 T C 14: 52,441,569 (GRCm39) N2181S probably benign Het
Cimap1c C T 9: 56,759,783 (GRCm39) probably null Het
Clip3 T C 7: 30,001,377 (GRCm39) V342A possibly damaging Het
Cyp20a1 T C 1: 60,393,799 (GRCm39) F139S probably damaging Het
Dclre1b T A 3: 103,710,430 (GRCm39) R494W probably benign Het
Dicer1 A G 12: 104,660,969 (GRCm39) I1695T probably damaging Het
Dnah7a A G 1: 53,458,858 (GRCm39) L3760P probably damaging Het
Dock1 A G 7: 134,765,072 (GRCm39) D1688G possibly damaging Het
Drosha G A 15: 12,889,742 (GRCm39) R870Q probably damaging Het
Dsg2 G T 18: 20,713,675 (GRCm39) M215I probably benign Het
Dst A T 1: 34,233,651 (GRCm39) D3453V possibly damaging Het
Epha10 A T 4: 124,796,365 (GRCm39) Y358F Het
Ermp1 A T 19: 29,590,054 (GRCm39) M853K probably benign Het
Hace1 T G 10: 45,577,075 (GRCm39) I823S probably benign Het
Hectd3 A T 4: 116,853,785 (GRCm39) Y227F probably benign Het
Hells A G 19: 38,945,501 (GRCm39) N580S probably benign Het
Igkv12-44 A G 6: 69,791,718 (GRCm39) F82L probably damaging Het
Inpp5d A G 1: 87,623,122 (GRCm39) D405G probably damaging Het
Itsn2 G A 12: 4,758,198 (GRCm39) R1508H probably benign Het
Limk1 A T 5: 134,686,825 (GRCm39) probably null Het
Lingo1 T A 9: 56,528,167 (GRCm39) K147* probably null Het
Ltn1 T C 16: 87,194,787 (GRCm39) S1371G probably benign Het
Mab21l1 A G 3: 55,691,307 (GRCm39) D298G possibly damaging Het
Macf1 A T 4: 123,366,082 (GRCm39) V2893E probably benign Het
Mapk8ip1 T C 2: 92,219,489 (GRCm39) D114G probably benign Het
Med15 A T 16: 17,540,729 (GRCm39) W6R probably benign Het
Mrps34 T C 17: 25,114,431 (GRCm39) L97P probably damaging Het
Myrfl A T 10: 116,697,417 (GRCm39) F36I possibly damaging Het
Nifk G A 1: 118,260,204 (GRCm39) S253N probably damaging Het
Nmnat1 T A 4: 149,557,758 (GRCm39) T95S probably damaging Het
Oasl1 T A 5: 115,073,985 (GRCm39) I298N probably damaging Het
Or51a8 A G 7: 102,549,760 (GRCm39) Y62C probably benign Het
Or56b35 T G 7: 104,963,712 (GRCm39) L167R probably damaging Het
Or8g37 A T 9: 39,731,423 (GRCm39) M163L probably benign Het
Polr2b C T 5: 77,468,913 (GRCm39) R230* probably null Het
Prkra T A 2: 76,477,545 (GRCm39) E53D probably benign Het
Rasgrp4 T A 7: 28,845,405 (GRCm39) L376Q probably damaging Het
Rwdd3 A G 3: 120,964,961 (GRCm39) S65P probably benign Het
Satb1 G A 17: 52,090,029 (GRCm39) P273S probably damaging Het
Scg3 T C 9: 75,589,374 (GRCm39) E93G probably damaging Het
Sf3a1 T C 11: 4,117,724 (GRCm39) F162S possibly damaging Het
Sorcs1 A G 19: 50,250,701 (GRCm39) Y377H probably damaging Het
Sptbn4 G A 7: 27,108,439 (GRCm39) A661V possibly damaging Het
Stk36 A G 1: 74,673,479 (GRCm39) N996S unknown Het
Tbca A T 13: 94,968,923 (GRCm39) I37F probably damaging Het
Tc2n A T 12: 101,672,716 (GRCm39) V75E probably damaging Het
Tdrkh A T 3: 94,333,263 (GRCm39) S243C probably damaging Het
Tjp1 T C 7: 64,964,438 (GRCm39) D911G probably damaging Het
Tmbim6 A G 15: 99,299,324 (GRCm39) probably benign Het
Tob1 T A 11: 94,104,708 (GRCm39) D81E probably benign Het
Ttpal T A 2: 163,448,945 (GRCm39) probably null Het
Usp37 A T 1: 74,534,787 (GRCm39) probably null Het
Vmn1r235 A G 17: 21,482,658 (GRCm39) I328V probably benign Het
Vmn1r28 T A 6: 58,242,850 (GRCm39) L231* probably null Het
Xirp1 G A 9: 119,848,176 (GRCm39) Q236* probably null Het
Zc3h7b A G 15: 81,664,682 (GRCm39) T514A probably damaging Het
Zfp524 A G 7: 5,021,200 (GRCm39) I243V probably benign Het
Zfp655 T A 5: 145,181,542 (GRCm39) Y467N possibly damaging Het
Zfp985 A T 4: 147,667,388 (GRCm39) K85N 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
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'- CTAAAGCTTCATCAACCATGGC -3'
(R):5'- ATGCAATGAAGACATTCTCCCC -3'

Sequencing Primer
(F):5'- GCTTCATCAACCATGGCAAGTTTG -3'
(R):5'- AATGAAGACATTCTCCCCCTGGTG -3'
Posted On 2019-10-07