Incidental Mutation 'R3054:Cst3'
ID 265059
Institutional Source Beutler Lab
Gene Symbol Cst3
Ensembl Gene ENSMUSG00000027447
Gene Name cystatin C
Synonyms CysC
MMRRC Submission 040563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R3054 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 148713642-148717432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148713951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 118 (S118P)
Ref Sequence ENSEMBL: ENSMUSP00000028938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028938] [ENSMUST00000144845]
AlphaFold P21460
Predicted Effect probably damaging
Transcript: ENSMUST00000028938
AA Change: S118P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028938
Gene: ENSMUSG00000027447
AA Change: S118P

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,108 (GRCm39) probably benign Het
Aldh1l2 T C 10: 83,338,336 (GRCm39) K528E probably benign Het
Als2 A G 1: 59,254,653 (GRCm39) C235R probably damaging Het
Armc6 C A 8: 70,677,799 (GRCm39) V177L probably benign Het
Asb7 A T 7: 66,328,959 (GRCm39) V27D probably damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cyp2a22 T C 7: 26,638,254 (GRCm39) D84G probably damaging Het
Ddo A G 10: 40,507,738 (GRCm39) N45S probably benign Het
Drd4 T C 7: 140,874,392 (GRCm39) V319A probably damaging Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fras1 A T 5: 96,912,802 (GRCm39) I3369F probably damaging Het
Gm5591 T C 7: 38,220,058 (GRCm39) S272G probably benign Het
Gm8444 A T 15: 81,727,845 (GRCm39) probably benign Het
Gm9776 A G 13: 94,495,158 (GRCm39) probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Larp1b A T 3: 40,918,535 (GRCm39) I59F probably benign Het
Ltn1 C T 16: 87,200,961 (GRCm39) A1092T probably benign Het
Map1b A G 13: 99,569,250 (GRCm39) V1157A unknown Het
Mboat1 A T 13: 30,379,724 (GRCm39) M92L probably benign Het
Meis3 G T 7: 15,916,378 (GRCm39) L284F probably damaging Het
Muc20 T C 16: 32,599,403 (GRCm39) F3317L probably benign Het
Muc5b G T 7: 141,417,778 (GRCm39) V3575F probably damaging Het
Polr1e C T 4: 45,018,724 (GRCm39) T18I possibly damaging Het
Ppp4r1 G T 17: 66,143,074 (GRCm39) A764S probably damaging Het
Psg29 A G 7: 16,942,727 (GRCm39) T243A probably benign Het
Ptprn2 T C 12: 116,685,753 (GRCm39) Y71H probably damaging Het
Radx T A X: 138,412,306 (GRCm39) V439E possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sh3bp1 C T 15: 78,795,622 (GRCm39) P584S probably benign Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Stil T A 4: 114,862,163 (GRCm39) H35Q probably damaging Het
Strn A T 17: 78,990,321 (GRCm39) V65D probably damaging Het
Sumf1 T C 6: 108,130,165 (GRCm39) N185D probably benign Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tjp3 T C 10: 81,116,341 (GRCm39) K251R probably benign Het
Tubgcp6 A T 15: 89,006,806 (GRCm39) M72K probably damaging Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vps13b A G 15: 35,646,507 (GRCm39) E1537G probably damaging Het
Zfr A G 15: 12,154,593 (GRCm39) N592S probably damaging 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
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
R7885:Cst3 UTSW 2 148,714,741 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CTGCAGCAGCTCCTTTACTG -3'
(R):5'- GGAAAGGGGACACATACCATCC -3'

Sequencing Primer
(F):5'- ACTGTCTCCTGGTGCAAACAC -3'
(R):5'- GGGGACACATACCATCCAATAATAGG -3'
Posted On 2015-02-05