Incidental Mutation 'R6371:Ppia'
ID 531219
Institutional Source Beutler Lab
Gene Symbol Ppia
Ensembl Gene ENSMUSG00000071866
Gene Name peptidylprolyl isomerase A
Synonyms CypA, CyP-18, cyclophilin A, Cphn
MMRRC Submission 044521-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.594) question?
Stock # R6371 (G1)
Quality Score 63.0073
Status Validated
Chromosome 11
Chromosomal Location 6365867-6369817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6368230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 37 (T37I)
Ref Sequence ENSEMBL: ENSMUSP00000149662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090749]
AlphaFold P17742
Predicted Effect probably benign
Transcript: ENSMUST00000090749
AA Change: T37I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.1%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene tend to develop blepharitis (about 30% of mice) as well as inflammation in other organs. Some background dependent embryonic lethality occurs but adults are robust and live normal life spans. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b C T 12: 113,453,894 (GRCm39) S237L probably damaging Het
Ank3 T G 10: 69,644,709 (GRCm39) L58V probably damaging Het
Arsb A T 13: 93,926,574 (GRCm39) I115F possibly damaging Het
Atad2b T C 12: 5,023,970 (GRCm39) Y32H probably damaging Het
Brd1 A C 15: 88,598,201 (GRCm39) M515R probably benign Het
Cbx7 A G 15: 79,803,023 (GRCm39) S30P possibly damaging Het
Cdk12 A G 11: 98,136,114 (GRCm39) T1123A unknown Het
Cep170b A G 12: 112,707,379 (GRCm39) D375G probably damaging Het
Clcn3 T C 8: 61,390,369 (GRCm39) K164E probably benign Het
Clip4 A C 17: 72,163,459 (GRCm39) K677T probably damaging Het
Clrn2 T C 5: 45,617,540 (GRCm39) I137T possibly damaging Het
Cntln T C 4: 84,802,816 (GRCm39) S39P probably damaging Het
Crocc2 T A 1: 93,143,353 (GRCm39) N1318K probably benign Het
Emc1 C T 4: 139,098,976 (GRCm39) Q820* probably null Het
Fbxl2 G A 9: 113,818,451 (GRCm39) T170I probably damaging Het
Fyb2 A G 4: 104,852,975 (GRCm39) T552A probably damaging Het
Garin5b A G 7: 4,762,358 (GRCm39) V257A probably benign Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hspg2 T C 4: 137,269,006 (GRCm39) Y2213H probably damaging Het
Ifnar2 T C 16: 91,184,986 (GRCm39) Y24H possibly damaging Het
Inpp5d T A 1: 87,627,397 (GRCm39) L566Q probably damaging Het
Itgb2 C A 10: 77,384,431 (GRCm39) P184H probably damaging Het
Kcnb2 T A 1: 15,781,436 (GRCm39) D769E probably benign Het
Lrp1b A G 2: 40,741,666 (GRCm39) M3087T possibly damaging Het
Ltbp3 A G 19: 5,795,800 (GRCm39) probably null Het
Ms4a6b A G 19: 11,497,728 (GRCm39) E9G probably damaging Het
Nat3 G A 8: 67,976,831 (GRCm39) probably null Het
Ndufaf1 A T 2: 119,490,534 (GRCm39) D175E probably damaging Het
Nop58 T G 1: 59,750,471 (GRCm39) probably benign Het
Or10al6 A G 17: 38,083,326 (GRCm39) T261A probably benign Het
Or8s16 A G 15: 98,211,219 (GRCm39) Y71H possibly damaging Het
P3h4 C T 11: 100,302,575 (GRCm39) E354K probably benign Het
Plekhm2 T G 4: 141,356,843 (GRCm39) T787P possibly damaging Het
Reln T A 5: 22,200,511 (GRCm39) M1330L probably benign Het
Ric1 A G 19: 29,539,426 (GRCm39) E53G probably benign Het
Sgip1 T A 4: 102,823,482 (GRCm39) V721E probably damaging Het
Slc33a1 A T 3: 63,850,709 (GRCm39) D538E probably benign Het
Son T C 16: 91,471,629 (GRCm39) Het
Srebf1 A T 11: 60,094,341 (GRCm39) S591R probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Taok2 G A 7: 126,469,319 (GRCm39) R1170W probably damaging Het
Tsc2 A T 17: 24,845,688 (GRCm39) V210E probably benign Het
Ttc6 T A 12: 57,775,249 (GRCm39) N1648K possibly damaging Het
Vgll3 C T 16: 65,636,131 (GRCm39) P94L probably damaging Het
Vmn2r54 A T 7: 12,349,362 (GRCm39) V740E probably damaging Het
Yeats2 A G 16: 20,040,460 (GRCm39) E1127G possibly damaging Het
Zfp709 T A 8: 72,643,329 (GRCm39) Y252N probably damaging Het
Other mutations in Ppia
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7394:Ppia UTSW 11 6,369,218 (GRCm39) missense possibly damaging 0.77
R7749:Ppia UTSW 11 6,369,569 (GRCm39) missense probably benign 0.01
Z1176:Ppia UTSW 11 6,369,600 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- AGACATTAAGCATGAGACTGTTCAC -3'
(R):5'- CATGCTGGCTCAATAAAAGGAG -3'

Sequencing Primer
(F):5'- GTTCCAAAGACAGCAGGT -3'
(R):5'- GGTCCTGAGTTCAAATCCCAG -3'
Posted On 2018-08-06