Incidental Mutation 'PIT4618001:Ppie'
ID 555686
Institutional Source Beutler Lab
Gene Symbol Ppie
Ensembl Gene ENSMUSG00000028651
Gene Name peptidylprolyl isomerase E (cyclophilin E)
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # PIT4618001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 123127115-123139951 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123138868 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 43 (T43I)
Ref Sequence ENSEMBL: ENSMUSP00000030404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030404]
AlphaFold Q9QZH3
Predicted Effect probably null
Transcript: ENSMUST00000030404
AA Change: T43I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030404
Gene: ENSMUSG00000028651
AA Change: T43I

RRM 7 80 1.36e-25 SMART
low complexity region 111 131 N/A INTRINSIC
Pfam:Pro_isomerase 143 299 1.6e-47 PFAM
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.0%
  • 10x: 85.9%
  • 20x: 75.2%
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 contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A T 5: 107,545,709 D64V probably damaging Het
Ankdd1a A C 9: 65,507,650 I268S possibly damaging Het
Atad3a C T 4: 155,750,138 R402Q probably benign Het
C3ar1 A G 6: 122,850,787 V157A probably benign Het
Cd55 C T 1: 130,456,869 V206I probably benign Het
Cd8a A G 6: 71,373,677 D42G possibly damaging Het
Cemip G T 7: 83,943,939 F1185L probably benign Het
Cfap58 A G 19: 47,975,514 D527G probably damaging Het
Cyp2a12 C A 7: 27,034,773 S377Y probably benign Het
Dapk2 A G 9: 66,268,686 D289G probably benign Het
Efcab6 G A 15: 83,983,446 A277V probably benign Het
Ephx2 A T 14: 66,102,222 F250L probably damaging Het
Flg2 A T 3: 93,203,781 S1039C unknown Het
Gm609 A G 16: 45,443,934 F87S probably benign Het
Gramd1a A G 7: 31,132,596 V674A probably benign Het
Gtf2a1 A C 12: 91,567,769 V237G probably benign Het
I830077J02Rik G A 3: 105,926,570 T90M probably damaging Het
Jagn1 T A 6: 113,447,437 L90H probably damaging Het
Mdn1 G T 4: 32,746,527 A4158S probably benign Het
Myh11 G A 16: 14,201,066 A1839V Het
Olr1 G A 6: 129,499,906 A132V probably damaging Het
Paqr3 A T 5: 97,103,471 H131Q possibly damaging Het
Pde4b A T 4: 102,602,812 T397S probably benign Het
Pon1 A G 6: 5,168,349 C353R probably damaging Het
Prr5l A G 2: 101,758,530 F92L probably damaging Het
Rai14 T C 15: 10,575,156 Y601C probably damaging Het
Rasal1 A G 5: 120,670,376 D491G probably damaging Het
Rbm12b1 T A 4: 12,145,441 V471E probably damaging Het
Rpusd2 T C 2: 119,038,452 L452P possibly damaging Het
Scgb2b24 A T 7: 33,738,611 C24S probably damaging Het
Slc17a5 C T 9: 78,538,248 V468M possibly damaging Het
Tcp10c A G 17: 13,356,510 K117R possibly damaging Het
Ubash3b A G 9: 41,016,627 S584P probably benign Het
Vps13b C T 15: 35,709,240 R1778C probably damaging Het
Ythdc2 A G 18: 44,834,598 I220M probably benign Het
Zfp474 C A 18: 52,638,404 T43K probably damaging Het
Zscan4-ps3 G A 7: 11,613,334 M432I probably benign Het
Other mutations in Ppie
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5292:Ppie UTSW 4 123,139,908 (GRCm38) missense probably damaging 0.97
R6175:Ppie UTSW 4 123,137,569 (GRCm38) missense probably benign 0.06
R7157:Ppie UTSW 4 123,135,107 (GRCm38) missense probably benign 0.05
R9002:Ppie UTSW 4 123,130,551 (GRCm38) missense possibly damaging 0.95
X0022:Ppie UTSW 4 123,127,650 (GRCm38) missense probably benign 0.41
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-07