Incidental Mutation 'R5978:Cst3'
ID 481238
Institutional Source Beutler Lab
Gene Symbol Cst3
Ensembl Gene ENSMUSG00000027447
Gene Name cystatin C
Synonyms CysC
MMRRC Submission 044160-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R5978 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 148713642-148717432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 148714742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 112 (M112L)
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: M112L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028938
Gene: ENSMUSG00000027447
AA Change: M112L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149691
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks6 T A 4: 47,049,252 (GRCm39) S218C probably damaging Het
Atp2c2 G A 8: 120,476,614 (GRCm39) probably null Het
Ccdc146 T G 5: 21,521,966 (GRCm39) I353L probably benign Het
Cyp2j11 A C 4: 96,207,589 (GRCm39) L242R probably damaging Het
Eif5b T C 1: 38,037,361 (GRCm39) probably null Het
Espl1 A G 15: 102,224,209 (GRCm39) I1253M possibly damaging Het
Fstl5 C T 3: 76,052,392 (GRCm39) H41Y probably damaging Het
Gm11011 T C 2: 169,426,361 (GRCm39) K84R unknown Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Heatr5b C A 17: 79,113,465 (GRCm39) V923F probably damaging Het
Hnrnpll G A 17: 80,341,620 (GRCm39) T473M probably damaging Het
Iars1 T A 13: 49,876,469 (GRCm39) Y845N probably damaging Het
Il34 T A 8: 111,469,317 (GRCm39) D166V probably damaging Het
Kel T A 6: 41,664,979 (GRCm39) H595L probably benign Het
Krt77 T C 15: 101,771,363 (GRCm39) I313M probably benign Het
Krt84 T C 15: 101,438,665 (GRCm39) E274G probably damaging Het
Mctp2 T C 7: 71,739,936 (GRCm39) Y818C probably damaging Het
Mrc1 A T 2: 14,320,204 (GRCm39) Y1046F probably damaging Het
Myom1 A T 17: 71,424,438 (GRCm39) D1429V probably damaging Het
Ncapg2 T C 12: 116,388,291 (GRCm39) M325T possibly damaging Het
Nf1 T A 11: 79,431,245 (GRCm39) I1902N probably damaging Het
Nkain3 A T 4: 20,485,026 (GRCm39) probably null Het
Nlrc5 A T 8: 95,215,221 (GRCm39) N940Y probably damaging Het
Nlrp9a T A 7: 26,256,703 (GRCm39) I107K probably damaging Het
Ntn5 T C 7: 45,343,437 (GRCm39) S328P possibly damaging Het
Or1j17 A C 2: 36,578,694 (GRCm39) K227Q probably benign Het
Parp8 A C 13: 117,032,268 (GRCm39) S302A probably benign Het
Ptgr2 G T 12: 84,342,032 (GRCm39) E27* probably null Het
Rnf115 T A 3: 96,695,982 (GRCm39) I256N probably damaging Het
Ryr3 T A 2: 112,502,614 (GRCm39) H3515L probably benign Het
Scel A G 14: 103,766,690 (GRCm39) probably null Het
Slc4a5 T A 6: 83,254,518 (GRCm39) S572T probably benign Het
Slc4a9 T G 18: 36,668,456 (GRCm39) I705S probably damaging Het
Spint4 C T 2: 164,542,252 (GRCm39) P101L probably damaging Het
Syt9 T A 7: 107,035,620 (GRCm39) D212E probably benign Het
Tmem39a T A 16: 38,411,392 (GRCm39) M449K probably benign Het
Ttn T C 2: 76,639,143 (GRCm39) T13877A possibly damaging Het
Ube2v2 T C 16: 15,394,991 (GRCm39) N20S probably benign Het
Vmn1r14 C T 6: 57,210,929 (GRCm39) S169F probably benign Het
Vps13d T C 4: 144,849,181 (GRCm39) H2410R probably benign Het
Wdr81 G A 11: 75,335,224 (GRCm39) L1781F probably damaging Het
Zfp91 A G 19: 12,747,515 (GRCm39) I536T 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 2 148,714,741 (GRCm39) missense probably benign 0.00
R6426:Cst3 UTSW 2 148,713,917 (GRCm39) missense probably benign 0.00
R7885:Cst3 UTSW 2 148,714,741 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TTGCTTCTAGCTCAGTAGGGATAAC -3'
(R):5'- TCTGTGATGGAAGGCAGCTG -3'

Sequencing Primer
(F):5'- TAGGGATAACTGAACATCAATAGCC -3'
(R):5'- CAGCTGTGTGGAAGTCACTTGAC -3'
Posted On 2017-06-26