Incidental Mutation 'R0036:Ppic'
ID 15433
Institutional Source Beutler Lab
Gene Symbol Ppic
Ensembl Gene ENSMUSG00000024538
Gene Name peptidylprolyl isomerase C
Synonyms CyP-20c, cyclophilin C
MMRRC Submission 038330-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock # R0036 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 53406341-53418007 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53409192 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 148 (I148N)
Ref Sequence ENSEMBL: ENSMUSP00000025419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025419]
AlphaFold P30412
PDB Structure Crystal structure of murine cyclophilin C complexed with immunosuppressive drug cyclosporin A [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000025419
AA Change: I148N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025419
Gene: ENSMUSG00000024538
AA Change: I148N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pro_isomerase 41 198 2e-49 PFAM
Meta Mutation Damage Score 0.9573 question?
Coding Region Coverage
  • 1x: 79.1%
  • 3x: 69.3%
  • 10x: 43.3%
  • 20x: 23.5%
Validation Efficiency 91% (49/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik A T 19: 23,616,568 probably benign Het
Cfap44 A G 16: 44,439,069 E1098G possibly damaging Het
Ctsq C T 13: 61,037,671 probably null Het
Dock9 C T 14: 121,622,853 V886M probably damaging Het
Eaf2 T C 16: 36,800,658 Y224C probably benign Het
Eif5b T A 1: 38,019,111 S165T probably benign Het
Eln A G 5: 134,711,060 probably null Het
Jakmip1 A G 5: 37,134,304 K514R probably null Het
Myo1e T A 9: 70,341,308 W435R probably damaging Het
Nadsyn1 T C 7: 143,811,291 I226V probably benign Het
Nedd4l T C 18: 65,051,123 probably benign Het
Phrf1 T C 7: 141,261,780 M1435T probably damaging Het
Sdr16c6 C A 4: 4,063,335 probably benign Het
Sgo2a T C 1: 58,015,628 S324P probably benign Het
Slf1 G T 13: 77,100,951 Q373K probably benign Het
Tfg G T 16: 56,690,995 Q324K probably benign Het
Wdr64 G T 1: 175,728,930 G248* probably null Het
Other mutations in Ppic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ppic APN 18 53409294 missense probably damaging 1.00
IGL01578:Ppic APN 18 53417929 missense unknown
R0403:Ppic UTSW 18 53411071 missense probably damaging 1.00
R1642:Ppic UTSW 18 53407062 missense probably damaging 1.00
R2394:Ppic UTSW 18 53411047 missense probably damaging 1.00
R5273:Ppic UTSW 18 53409258 missense probably damaging 1.00
R5870:Ppic UTSW 18 53409261 missense probably benign 0.00
R6770:Ppic UTSW 18 53411585 missense probably benign 0.18
R7357:Ppic UTSW 18 53411067 missense probably damaging 1.00
R8544:Ppic UTSW 18 53411540 missense probably damaging 1.00
R8825:Ppic UTSW 18 53409150 missense probably damaging 1.00
Posted On 2012-12-21