Incidental Mutation 'R6770:Ppic'
ID 532150
Institutional Source Beutler Lab
Gene Symbol Ppic
Ensembl Gene ENSMUSG00000024538
Gene Name peptidylprolyl isomerase C
Synonyms CyP-20c, cyclophilin C
MMRRC Submission 044886-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R6770 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 53539413-53551079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53544657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 51 (V51E)
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 benign
Transcript: ENSMUST00000025419
AA Change: V51E

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025419
Gene: ENSMUSG00000024538
AA Change: V51E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pro_isomerase 41 198 2e-49 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk A G 14: 21,284,982 (GRCm39) K102E probably damaging Het
Bach2 G A 4: 32,575,240 (GRCm39) V489I possibly damaging Het
Bin1 A G 18: 32,539,202 (GRCm39) E45G probably damaging Het
Btnl4 A G 17: 34,693,011 (GRCm39) Y135H probably benign Het
Btnl9 T C 11: 49,066,392 (GRCm39) probably null Het
Cdh10 A G 15: 18,985,308 (GRCm39) D324G probably benign Het
Cfi T C 3: 129,652,379 (GRCm39) S269P probably benign Het
Ctbp1 G A 5: 33,408,204 (GRCm39) Q243* probably null Het
Dnajc1 G T 2: 18,222,082 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo39 T G 11: 72,208,622 (GRCm39) S325A possibly damaging Het
Gbe1 T C 16: 70,198,726 (GRCm39) S140P probably damaging Het
Gbe1 T A 16: 70,111,153 (GRCm39) L38Q possibly damaging Het
Gm5114 T C 7: 39,057,967 (GRCm39) S551G possibly damaging Het
Ina C T 19: 47,003,366 (GRCm39) probably benign Het
Irs3 A G 5: 137,643,475 (GRCm39) V103A possibly damaging Het
Ldb2 T A 5: 44,826,738 (GRCm39) T66S probably damaging Het
Lrp4 C T 2: 91,327,648 (GRCm39) A1499V probably benign Het
Nde1 G A 16: 14,006,242 (GRCm39) V96I probably damaging Het
Nrap T C 19: 56,370,969 (GRCm39) probably null Het
Nrxn1 G T 17: 90,344,607 (GRCm39) N435K probably damaging Het
Obscn T C 11: 58,934,862 (GRCm39) D5256G possibly damaging Het
Or1e25 A G 11: 73,493,804 (GRCm39) T133A probably benign Het
Or4a75 A G 2: 89,448,206 (GRCm39) V110A probably benign Het
Or52n20 T A 7: 104,320,725 (GRCm39) I272N probably damaging Het
Or8c14-ps1 T C 9: 38,101,479 (GRCm39) F153L possibly damaging Het
Otoa T A 7: 120,744,837 (GRCm39) M865K probably benign Het
Otud1 A G 2: 19,663,993 (GRCm39) E374G probably benign Het
Pigz T A 16: 31,764,568 (GRCm39) L542H probably damaging Het
Plekhg5 A G 4: 152,187,536 (GRCm39) T101A probably benign Het
Ptpn14 G A 1: 189,564,970 (GRCm39) V186M probably damaging Het
Ryr2 T A 13: 11,753,348 (GRCm39) T1658S probably damaging Het
Scn7a T A 2: 66,559,528 (GRCm39) probably null Het
Siva1 G A 12: 112,614,358 (GRCm39) C73Y probably damaging Het
Slc4a1ap G A 5: 31,685,226 (GRCm39) probably null Het
Sltm A G 9: 70,492,059 (GRCm39) I683V unknown Het
Srgap2 A T 1: 131,226,248 (GRCm39) C22S probably benign Het
Stxbp1 C T 2: 32,709,901 (GRCm39) R64H probably benign Het
Suv39h2 T C 2: 3,473,588 (GRCm39) N114S possibly damaging Het
Tas2r136 T C 6: 132,754,345 (GRCm39) I261V probably benign Het
Trav14-2 A C 14: 53,878,629 (GRCm39) H76P probably damaging Het
Ttc28 T C 5: 111,434,006 (GRCm39) S2316P probably damaging Het
Ubr4 T C 4: 139,216,493 (GRCm39) I5141T unknown Het
Usp46 A G 5: 74,193,015 (GRCm39) V87A probably benign Het
Zfp423 T C 8: 88,508,445 (GRCm39) N612S 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
R5273:Ppic UTSW 18 53,542,330 (GRCm39) missense probably damaging 1.00
R5870:Ppic UTSW 18 53,542,333 (GRCm39) missense probably benign 0.00
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'- CCCTAGACATGTGTGCTTAAAC -3'
(R):5'- TGCCTCTTGACTCTCAGAAAAC -3'

Sequencing Primer
(F):5'- TGTCGTACAATCATCTGACATATTG -3'
(R):5'- TCTTGACTCTCAGAAAACACTGAAGG -3'
Posted On 2018-08-29