Incidental Mutation 'R5273:Ppic'
ID 403791
Institutional Source Beutler Lab
Gene Symbol Ppic
Ensembl Gene ENSMUSG00000024538
Gene Name peptidylprolyl isomerase C
Synonyms CyP-20c, cyclophilin C
MMRRC Submission 042862-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R5273 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 53539413-53551079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53542330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 126 (H126L)
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: H126L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025419
Gene: ENSMUSG00000024538
AA Change: H126L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pro_isomerase 41 198 2e-49 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,832,233 (GRCm39) N799S possibly damaging Het
Arhgap20 A G 9: 51,759,916 (GRCm39) N589S probably damaging Het
Armc10 C T 5: 21,858,426 (GRCm39) A157V possibly damaging Het
Atp2b2 A G 6: 113,736,193 (GRCm39) L958P probably damaging Het
Bhmt2 G A 13: 93,803,086 (GRCm39) A149V possibly damaging Het
Ccdc7a CATCAGCTGATAT CAT 8: 129,788,090 (GRCm39) probably null Het
Cntnap4 A G 8: 113,460,070 (GRCm39) D141G probably damaging Het
Cplane1 T C 15: 8,273,825 (GRCm39) S2603P probably damaging Het
Cplane1 T C 15: 8,292,422 (GRCm39) S3012P unknown Het
Dis3 A G 14: 99,336,242 (GRCm39) V88A probably benign Het
Dnajc21 A T 15: 10,454,893 (GRCm39) C316S probably damaging Het
Dnhd1 A G 7: 105,363,689 (GRCm39) T4084A probably damaging Het
Dock3 A C 9: 106,777,904 (GRCm39) probably null Het
Eml5 T C 12: 98,756,947 (GRCm39) H1894R probably damaging Het
Galc T C 12: 98,218,330 (GRCm39) Y174C probably damaging Het
Gm4841 C T 18: 60,403,815 (GRCm39) V93I probably benign Het
Gm7995 T C 14: 42,133,413 (GRCm39) Y98H probably damaging Het
Gnrhr T A 5: 86,330,105 (GRCm39) H305L possibly damaging Het
Gpr179 A T 11: 97,238,256 (GRCm39) F323I probably damaging Het
Kdm6b G T 11: 69,295,027 (GRCm39) P1080Q unknown Het
Man2a1 C T 17: 65,040,780 (GRCm39) T126I probably damaging Het
Mdm4 G A 1: 132,922,320 (GRCm39) T274M probably benign Het
Mug1 T A 6: 121,850,748 (GRCm39) V748E probably damaging Het
Nav3 A T 10: 109,528,899 (GRCm39) probably null Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Or8d6 T C 9: 39,853,853 (GRCm39) V99A probably benign Het
Or8g36 A G 9: 39,422,795 (GRCm39) S74P possibly damaging Het
Pcdhb1 T C 18: 37,398,766 (GRCm39) V239A probably benign Het
Sdk1 T C 5: 141,984,583 (GRCm39) F463L probably damaging Het
Shroom1 A G 11: 53,354,671 (GRCm39) E197G possibly damaging Het
Slc22a14 A G 9: 118,999,704 (GRCm39) S496P probably benign Het
Slc27a1 G A 8: 72,036,900 (GRCm39) G379S probably benign Het
Slco1a5 T C 6: 142,187,824 (GRCm39) E505G probably benign Het
Snrpe A C 1: 133,537,518 (GRCm39) probably benign Het
Sp100 G T 1: 85,636,825 (GRCm39) V299F possibly damaging Het
Stard9 A G 2: 120,535,568 (GRCm39) S3942G possibly damaging Het
Ttn A G 2: 76,644,948 (GRCm39) V12969A probably damaging Het
Txndc11 T C 16: 10,946,487 (GRCm39) Q108R probably benign Het
Wnk4 A T 11: 101,154,695 (GRCm39) I295F probably damaging Het
Other mutations in Ppic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ppic APN 18 53,542,366 (GRCm39) missense probably damaging 1.00
IGL01578:Ppic APN 18 53,551,001 (GRCm39) missense unknown
R0036:Ppic UTSW 18 53,542,264 (GRCm39) missense probably damaging 1.00
R0403:Ppic UTSW 18 53,544,143 (GRCm39) missense probably damaging 1.00
R1642:Ppic UTSW 18 53,540,134 (GRCm39) missense probably damaging 1.00
R2394:Ppic UTSW 18 53,544,119 (GRCm39) missense probably damaging 1.00
R5870:Ppic UTSW 18 53,542,333 (GRCm39) missense probably benign 0.00
R6770:Ppic UTSW 18 53,544,657 (GRCm39) missense probably benign 0.18
R7357:Ppic UTSW 18 53,544,139 (GRCm39) missense probably damaging 1.00
R8544:Ppic UTSW 18 53,544,612 (GRCm39) missense probably damaging 1.00
R8825:Ppic UTSW 18 53,542,222 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACATTTGAAGGTCCAATGAATCAC -3'
(R):5'- GGTCAGGTTTGTCATACACCTTC -3'

Sequencing Primer
(F):5'- AAGGCTTTGTGTATTTTGAGAGTGAG -3'
(R):5'- AGGTTTGTCATACACCTTCACTTC -3'
Posted On 2016-07-22