Incidental Mutation 'R7885:Cst3'
ID 608989
Institutional Source Beutler Lab
Gene Symbol Cst3
Ensembl Gene ENSMUSG00000027447
Gene Name cystatin C
Synonyms CysC
MMRRC Submission 045937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R7885 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 148713642-148717432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148714741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 112 (M112T)
Ref Sequence ENSEMBL: ENSMUSP00000028938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028938] [ENSMUST00000144845]
AlphaFold P21460
Predicted Effect probably benign
Transcript: ENSMUST00000028938
AA Change: M112T

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028938
Gene: ENSMUSG00000027447
AA Change: M112T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
CY 28 138 8.44e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144845
SMART Domains Protein: ENSMUSP00000117672
Gene: ENSMUSG00000027447

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
CY 28 102 5.39e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a cysteine protease inhibitor involved in neurodegenerative and cardiovascular processes. The encoded protein inhibits aggregation of beta-amyloid protein, a hallmark of Alzheimer's disease, so it may be useful as a therapeutic. This protein also may be a biomarker for atherosclerosis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit increased metastatic potential and decreased susceptibility to ischemic brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,131,542 (GRCm39) V649A possibly damaging Het
Arglu1 C T 8: 8,717,337 (GRCm39) R244H possibly damaging Het
Asic5 A T 3: 81,913,812 (GRCm39) Y204F probably benign Het
Asz1 A G 6: 18,104,876 (GRCm39) F76S probably damaging Het
Bin1 G A 18: 32,552,896 (GRCm39) A174T probably damaging Het
Bnipl A C 3: 95,157,551 (GRCm39) S23A probably benign Het
Cd19 T C 7: 126,011,303 (GRCm39) T294A probably benign Het
Cdon G A 9: 35,367,818 (GRCm39) V238I probably benign Het
Chd3 A T 11: 69,247,451 (GRCm39) D957E probably benign Het
Crhbp T C 13: 95,568,515 (GRCm39) Q307R probably damaging Het
Dgkb A G 12: 38,189,425 (GRCm39) E276G probably damaging Het
Exoc4 T A 6: 33,735,001 (GRCm39) N539K probably benign Het
Gm3099 A G 14: 15,345,429 (GRCm39) E85G probably benign Het
Gpatch2 A G 1: 186,957,698 (GRCm39) probably null Het
Hs3st5 T A 10: 36,704,776 (GRCm39) Y26* probably null Het
Hspg2 A T 4: 137,244,148 (GRCm39) D802V probably damaging Het
Ifih1 A G 2: 62,431,813 (GRCm39) V846A possibly damaging Het
Lama4 T A 10: 38,964,840 (GRCm39) S1402T probably benign Het
Lrmda A G 14: 22,648,388 (GRCm39) T73A unknown Het
Lrrc1 A T 9: 77,349,471 (GRCm39) V365E probably damaging Het
Lrrc37a T A 11: 103,393,868 (GRCm39) Q519L probably benign Het
Mlc1 G T 15: 88,862,107 (GRCm39) D36E probably benign Het
Mrc2 A T 11: 105,223,092 (GRCm39) D445V probably damaging Het
Muc16 A G 9: 18,550,760 (GRCm39) S5178P probably benign Het
Nbea A G 3: 55,573,110 (GRCm39) I2491T probably damaging Het
Ncoa1 A G 12: 4,389,044 (GRCm39) I77T probably damaging Het
Npepps G T 11: 97,109,474 (GRCm39) H701N probably damaging Het
Or4n4b T G 14: 50,536,041 (GRCm39) T242P probably damaging Het
Or7g22 A T 9: 19,048,831 (GRCm39) I181F possibly damaging Het
Pclo T TTCTAG 5: 14,764,209 (GRCm39) probably null Het
Pclo GTCTAT GTCTATTCTAT 5: 14,764,204 (GRCm39) probably null Het
Pclo TCTAT TCTATACTAT 5: 14,764,205 (GRCm39) probably null Het
Pi4kb T C 3: 94,906,387 (GRCm39) Y645H probably damaging Het
Pik3r5 C T 11: 68,383,528 (GRCm39) A449V possibly damaging Het
Plat A G 8: 23,261,736 (GRCm39) T45A probably benign Het
Platr25 T C 13: 62,848,676 (GRCm39) K62R possibly damaging Het
Ppp5c A G 7: 16,740,111 (GRCm39) V410A possibly damaging Het
Prdm2 C T 4: 142,861,140 (GRCm39) A717T probably benign Het
Pstpip2 C A 18: 77,882,422 (GRCm39) T2K probably benign Het
Ptpn12 A C 5: 21,203,523 (GRCm39) S418R possibly damaging Het
Rint1 A G 5: 24,010,642 (GRCm39) S255G probably benign Het
Rmc1 T C 18: 12,322,371 (GRCm39) L608P probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Stab2 T C 10: 86,714,776 (GRCm39) H1581R probably benign Het
Stau2 T C 1: 16,530,577 (GRCm39) Y114C unknown Het
Ticam1 T C 17: 56,578,067 (GRCm39) T343A probably benign Het
Tmem131l T C 3: 83,817,724 (GRCm39) K1259E possibly damaging Het
Vmn2r103 T A 17: 20,013,385 (GRCm39) F169I probably benign Het
Vps33a T C 5: 123,673,312 (GRCm39) K425E possibly damaging Het
Vwa8 T C 14: 79,258,089 (GRCm39) M746T probably benign Het
Zc3hav1 A G 6: 38,313,598 (GRCm39) I149T possibly damaging Het
Zfp708 A T 13: 67,222,193 (GRCm39) D62E probably benign Het
Other mutations in Cst3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Cst3 APN 2 148,714,797 (GRCm39) nonsense probably null
IGL02502:Cst3 APN 2 148,717,065 (GRCm39) splice site probably benign
R0255:Cst3 UTSW 2 148,717,089 (GRCm39) missense probably damaging 1.00
R3054:Cst3 UTSW 2 148,713,951 (GRCm39) missense probably damaging 1.00
R5978:Cst3 UTSW 2 148,714,742 (GRCm39) missense probably benign 0.00
R5978:Cst3 UTSW 2 148,714,741 (GRCm39) missense probably benign 0.00
R6426:Cst3 UTSW 2 148,713,917 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCAGTTGCTTCTAGCTCAG -3'
(R):5'- TCTGTGATGGAAGGCAGCTG -3'

Sequencing Primer
(F):5'- GCTTCTAGCTCAGTAGGGATAAC -3'
(R):5'- CAGCTGTGTGGAAGTCACTTGAC -3'
Posted On 2019-12-20