Incidental Mutation 'R6799:Ppif'
ID 533229
Institutional Source Beutler Lab
Gene Symbol Ppif
Ensembl Gene ENSMUSG00000021868
Gene Name peptidylprolyl isomerase F (cyclophilin F)
Synonyms CypD, CyP-D, mitochondrial Cyclophilin D, CyP-F
MMRRC Submission 044912-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R6799 (G1)
Quality Score 180.009
Status Not validated
Chromosome 14
Chromosomal Location 25694578-25700892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25696488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 95 (H95R)
Ref Sequence ENSEMBL: ENSMUSP00000022419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022419]
AlphaFold Q99KR7
Predicted Effect probably damaging
Transcript: ENSMUST00000022419
AA Change: H95R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022419
Gene: ENSMUSG00000021868
AA Change: H95R

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
Pfam:Pro_isomerase 48 204 2.6e-48 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.6%
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. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in abnormal mitochondrial physiology and a significantly decreased infarction size following ischemia/reperfusion-induced cardiac or brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A T 5: 144,981,624 (GRCm39) Y153F probably damaging Het
Abcb1b T A 5: 8,862,656 (GRCm39) Y113N probably damaging Het
Albfm1 A G 5: 90,727,474 (GRCm39) H364R probably damaging Het
Anapc1 C G 2: 128,501,657 (GRCm39) R795T probably null Het
Arhgap18 T A 10: 26,725,917 (GRCm39) N47K possibly damaging Het
Arhgap26 A G 18: 39,232,660 (GRCm39) N96D probably damaging Het
Asxl3 G T 18: 22,598,457 (GRCm39) E191* probably null Het
Cc2d2b A G 19: 40,779,652 (GRCm39) E697G possibly damaging Het
Chaf1a A T 17: 56,354,059 (GRCm39) I110F unknown Het
Clca4b A T 3: 144,621,388 (GRCm39) probably null Het
Dagla C A 19: 10,234,214 (GRCm39) V366L probably damaging Het
Dapk1 A G 13: 60,900,049 (GRCm39) N878S probably benign Het
Dapk3 A G 10: 81,026,096 (GRCm39) Y129C probably damaging Het
Dhx38 A G 8: 110,279,834 (GRCm39) L952P probably damaging Het
Drosha T A 15: 12,912,623 (GRCm39) Y1080* probably null Het
Dscaml1 G A 9: 45,361,881 (GRCm39) V214I probably benign Het
Dtymk A G 1: 93,726,214 (GRCm39) L15P probably benign Het
E330034G19Rik A G 14: 24,346,178 (GRCm39) M30V probably benign Het
Egfr G A 11: 16,846,952 (GRCm39) C783Y probably damaging Het
Epha8 C T 4: 136,672,980 (GRCm39) R268Q probably benign Het
Fbxw24 T A 9: 109,453,998 (GRCm39) R49S probably damaging Het
Fcsk T C 8: 111,620,050 (GRCm39) M276V probably benign Het
Gm8797 A T 3: 5,816,027 (GRCm39) T22S probably benign Het
Hao1 T C 2: 134,372,685 (GRCm39) S108G probably damaging Het
Hdac4 C A 1: 91,929,935 (GRCm39) A184S probably damaging Het
Hikeshi T A 7: 89,579,553 (GRCm39) probably benign Het
Hivep2 C T 10: 14,004,757 (GRCm39) R452C probably benign Het
Hsdl1 T C 8: 120,293,169 (GRCm39) S68G probably benign Het
Kctd20 T C 17: 29,182,351 (GRCm39) probably null Het
Klf11 T C 12: 24,705,638 (GRCm39) V364A possibly damaging Het
Kpna6 A G 4: 129,551,247 (GRCm39) L86P probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lpin1 T A 12: 16,611,045 (GRCm39) N516Y probably damaging Het
Lrp2 T C 2: 69,314,248 (GRCm39) Y2161C probably damaging Het
Lrrtm3 A T 10: 63,923,630 (GRCm39) C512* probably null Het
Mfsd1 T C 3: 67,507,314 (GRCm39) I405T probably damaging Het
Msc T G 1: 14,825,491 (GRCm39) D161A probably damaging Het
Mttp T C 3: 137,800,841 (GRCm39) I755V probably benign Het
Ncam1 T C 9: 49,419,911 (GRCm39) T803A probably damaging Het
Nlrp14 A G 7: 106,795,346 (GRCm39) I210V probably benign Het
Npat A T 9: 53,462,930 (GRCm39) H108L probably benign Het
Nt5dc1 A G 10: 34,189,703 (GRCm39) I329T possibly damaging Het
Or10v5 T A 19: 11,806,178 (GRCm39) I71F possibly damaging Het
Or51q1c T A 7: 103,648,006 (GRCm39) probably null Het
Or8b35 T C 9: 37,904,478 (GRCm39) L230P possibly damaging Het
Parm1 C T 5: 91,742,070 (GRCm39) T146I possibly damaging Het
Parp2 T C 14: 51,058,553 (GRCm39) Y528H probably damaging Het
Pias1 G T 9: 62,789,334 (GRCm39) S624R probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Psg20 A G 7: 18,418,345 (GRCm39) Y141H probably benign Het
Pygm A T 19: 6,448,157 (GRCm39) Y733F probably damaging Het
Rcc1l A T 5: 134,205,552 (GRCm39) M1K probably null Het
Rfpl4b T C 10: 38,697,341 (GRCm39) K87E possibly damaging Het
Rnf113a1 A C X: 36,455,840 (GRCm39) T266P probably benign Het
Scn5a A C 9: 119,324,688 (GRCm39) I1380S possibly damaging Het
Sel1l A G 12: 91,781,742 (GRCm39) probably null Het
Slc18a1 T A 8: 69,493,633 (GRCm39) I400L probably benign Het
Slc30a3 A G 5: 31,246,958 (GRCm39) S73P probably damaging Het
Slc9a5 A T 8: 106,090,600 (GRCm39) N685I possibly damaging Het
Tnc C T 4: 63,883,841 (GRCm39) R1868H probably benign Het
Trdmt1 A G 2: 13,520,824 (GRCm39) probably null Het
Ttyh1 G T 7: 4,136,221 (GRCm39) probably null Het
Tyms A T 5: 30,266,069 (GRCm39) D283E probably benign Het
Vmn2r110 T A 17: 20,803,798 (GRCm39) Y259F probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r88 C A 14: 51,651,426 (GRCm39) Q255K probably benign Het
Vmn2r95 C T 17: 18,659,555 (GRCm39) P100S probably damaging Het
Zfp128 A T 7: 12,624,826 (GRCm39) H398L possibly damaging Het
Other mutations in Ppif
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4751:Ppif UTSW 14 25,699,923 (GRCm39) missense probably damaging 1.00
R6912:Ppif UTSW 14 25,698,711 (GRCm39) missense probably damaging 0.97
R8108:Ppif UTSW 14 25,698,750 (GRCm39) missense probably damaging 1.00
R9037:Ppif UTSW 14 25,694,828 (GRCm39) missense probably damaging 1.00
R9049:Ppif UTSW 14 25,694,836 (GRCm39) missense possibly damaging 0.52
R9716:Ppif UTSW 14 25,695,921 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- GCTTCACACTGGCTCAAGAC -3'
(R):5'- CACAGCCTCAAGGTTCATCC -3'

Sequencing Primer
(F):5'- TGGCTCAAGACAGAAAAGTGATC -3'
(R):5'- GGTTCATCCCCACCAGCAG -3'
Posted On 2018-09-12