Incidental Mutation 'R5292:Ppie'
ID 405190
Institutional Source Beutler Lab
Gene Symbol Ppie
Ensembl Gene ENSMUSG00000028651
Gene Name peptidylprolyl isomerase E (cyclophilin E)
Synonyms 2010010D16Rik
MMRRC Submission 042875-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R5292 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 123020908-123033744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123033701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 9 (Y9H)
Ref Sequence ENSEMBL: ENSMUSP00000030404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030404]
AlphaFold Q9QZH3
Predicted Effect probably damaging
Transcript: ENSMUST00000030404
AA Change: Y9H

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030404
Gene: ENSMUSG00000028651
AA Change: Y9H

DomainStartEndE-ValueType
RRM 7 80 1.36e-25 SMART
low complexity region 111 131 N/A INTRINSIC
Pfam:Pro_isomerase 143 299 1.6e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137778
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A G 8: 25,354,467 (GRCm39) V641A possibly damaging Het
Apob A T 12: 8,055,912 (GRCm39) M1465L probably benign Het
Astn1 T C 1: 158,407,933 (GRCm39) probably null Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Col22a1 T C 15: 71,842,185 (GRCm39) Y433C probably damaging Het
Crtc3 T C 7: 80,268,358 (GRCm39) T154A possibly damaging Het
Dcc T C 18: 71,439,159 (GRCm39) Y1241C probably damaging Het
Depdc1b T C 13: 108,510,376 (GRCm39) V296A probably damaging Het
Gata3 A G 2: 9,873,685 (GRCm39) S270P probably damaging Het
Gcm1 T C 9: 77,968,708 (GRCm39) F136S probably damaging Het
Gfpt1 A G 6: 87,053,237 (GRCm39) probably null Het
Gm5174 G T 10: 86,492,562 (GRCm39) noncoding transcript Het
Hhipl1 A G 12: 108,294,037 (GRCm39) T648A probably benign Het
Hr C A 14: 70,809,432 (GRCm39) Q1177K probably damaging Het
Hrnr T C 3: 93,239,199 (GRCm39) S3146P unknown Het
Igkv10-94 C T 6: 68,681,582 (GRCm39) G86E probably damaging Het
Krt80 G A 15: 101,250,066 (GRCm39) R222W probably damaging Het
Lrch3 T C 16: 32,796,177 (GRCm39) Y354H probably damaging Het
Or10g1 A T 14: 52,647,902 (GRCm39) N142K possibly damaging Het
Or3a1b T A 11: 74,012,877 (GRCm39) F254Y probably damaging Het
Or5w1b T A 2: 87,476,339 (GRCm39) N43Y probably damaging Het
Osbpl7 A G 11: 96,958,779 (GRCm39) D932G probably benign Het
Pakap T G 4: 57,855,356 (GRCm39) S471R probably damaging Het
Palmd T C 3: 116,717,393 (GRCm39) E368G probably benign Het
Peg3 T A 7: 6,711,259 (GRCm39) D1321V probably damaging Het
Pkhd1l1 A T 15: 44,392,962 (GRCm39) I1766F probably damaging Het
Polq A G 16: 36,881,745 (GRCm39) E1303G probably damaging Het
Ptprz1 A G 6: 23,002,581 (GRCm39) N1557S probably benign Het
Rnf40 T C 7: 127,195,120 (GRCm39) V411A possibly damaging Het
Rtn4 T C 11: 29,657,924 (GRCm39) F577L probably benign Het
Sacs A G 14: 61,449,432 (GRCm39) Y3826C probably damaging Het
Slc32a1 A G 2: 158,453,307 (GRCm39) D49G probably damaging Het
Slc37a2 A T 9: 37,150,453 (GRCm39) C167* probably null Het
Slc5a1 G T 5: 33,315,585 (GRCm39) V535F probably benign Het
Smoc2 A G 17: 14,556,835 (GRCm39) K95E probably damaging Het
Smok3c A C 5: 138,063,446 (GRCm39) Q311P probably damaging Het
Spink5 C A 18: 44,139,521 (GRCm39) P628Q probably benign Het
Spint4 T C 2: 164,542,779 (GRCm39) L124S probably benign Het
Stard9 A G 2: 120,529,626 (GRCm39) K1961R probably benign Het
Synpo2 C A 3: 122,907,709 (GRCm39) V536L possibly damaging Het
Trim24 A G 6: 37,880,539 (GRCm39) K146E probably benign Het
Usp24 A G 4: 106,275,460 (GRCm39) D2245G probably benign Het
Vars2 A G 17: 35,971,678 (GRCm39) S81P probably damaging Het
Zfp39 T C 11: 58,791,415 (GRCm39) T91A probably damaging Het
Zfp764l1 T C 7: 126,991,659 (GRCm39) D97G possibly damaging Het
Zfp936 T A 7: 42,838,759 (GRCm39) Y75* probably null Het
Zkscan5 G T 5: 145,155,451 (GRCm39) C374F probably damaging Het
Other mutations in Ppie
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4618001:Ppie UTSW 4 123,032,661 (GRCm39) missense probably null 1.00
R6175:Ppie UTSW 4 123,031,362 (GRCm39) missense probably benign 0.06
R7157:Ppie UTSW 4 123,028,900 (GRCm39) missense probably benign 0.05
R9002:Ppie UTSW 4 123,024,344 (GRCm39) missense possibly damaging 0.95
X0022:Ppie UTSW 4 123,021,443 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- TTTGTAAAACGAATGGGCGG -3'
(R):5'- TTGATCAGACCAAGGTTTGTTTCC -3'

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