Incidental Mutation 'IGL02347:Ppid'
ID 289329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppid
Ensembl Gene ENSMUSG00000027804
Gene Name peptidylprolyl isomerase D (cyclophilin D)
Synonyms CYP-40, cytoplasmic cyclophilin D, Ppidl, 4930564J03Rik, cyclophilin 40
Accession Numbers
Essential gene? Probably essential (E-score: 0.785) question?
Stock # IGL02347
Quality Score
Status
Chromosome 3
Chromosomal Location 79498649-79510957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79502526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 82 (I82V)
Ref Sequence ENSEMBL: ENSMUSP00000029382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029382]
AlphaFold Q9CR16
Predicted Effect probably benign
Transcript: ENSMUST00000029382
AA Change: I82V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029382
Gene: ENSMUSG00000027804
AA Change: I82V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 19 183 1.5e-49 PFAM
low complexity region 208 222 N/A INTRINSIC
TPR 223 256 1.78e-1 SMART
TPR 273 306 2.59e-3 SMART
TPR 307 340 2.82e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000159505
AA Change: I27V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162690
Coding Region Coverage
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 has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,452,835 (GRCm39) K35* probably null Het
Adad2 G T 8: 120,343,408 (GRCm39) G546V probably damaging Het
Bccip A G 7: 133,311,105 (GRCm39) K7E probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Car12 T A 9: 66,671,629 (GRCm39) V352D possibly damaging Het
Cyp2d11 G A 15: 82,274,681 (GRCm39) R299C probably benign Het
Dnah10 A C 5: 124,910,487 (GRCm39) probably null Het
Eddm13 A G 7: 6,272,883 (GRCm39) I79M possibly damaging Het
Egf A T 3: 129,472,026 (GRCm39) N1199K probably benign Het
Ehbp1l1 A G 19: 5,769,600 (GRCm39) W568R possibly damaging Het
Eif1ad14 T C 12: 87,886,359 (GRCm39) D90G probably damaging Het
Emc3 A G 6: 113,497,533 (GRCm39) M106T possibly damaging Het
Fam13b T C 18: 34,587,757 (GRCm39) K514E probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Frg2f1 A C 4: 119,387,929 (GRCm39) L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 (GRCm39) probably null Het
Glis3 A G 19: 28,509,283 (GRCm39) F234L probably benign Het
Grap2 T C 15: 80,530,557 (GRCm39) probably benign Het
H2-M10.2 T A 17: 36,596,505 (GRCm39) E113D probably benign Het
Itgb6 T C 2: 60,441,756 (GRCm39) T685A probably benign Het
Mrpl19 A T 6: 81,938,992 (GRCm39) M270K probably damaging Het
Msantd4 G T 9: 4,384,734 (GRCm39) probably benign Het
Msr1 G T 8: 40,085,778 (GRCm39) T34K probably damaging Het
Npc1 C T 18: 12,332,691 (GRCm39) V780M probably benign Het
Nsun6 A G 2: 15,034,831 (GRCm39) probably benign Het
Nt5c2 A G 19: 46,912,695 (GRCm39) probably benign Het
Nucb2 A C 7: 116,135,113 (GRCm39) Q340P probably benign Het
Nup50l A T 6: 96,142,511 (GRCm39) Y178N probably damaging Het
Or2l13b A G 16: 19,349,529 (GRCm39) L47P probably damaging Het
Or3a1b C T 11: 74,012,397 (GRCm39) T94I probably benign Het
Osgin1 A G 8: 120,172,277 (GRCm39) E357G probably benign Het
Pabpc6 C T 17: 9,887,993 (GRCm39) R186K probably benign Het
Pex1 A G 5: 3,653,350 (GRCm39) K83R probably damaging Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rcn1 A T 2: 105,229,471 (GRCm39) V27E probably benign Het
Rnaseh1 A T 12: 28,707,629 (GRCm39) probably benign Het
Rnf148 A G 6: 23,654,729 (GRCm39) V89A probably benign Het
Siglecf G A 7: 43,001,145 (GRCm39) V38I possibly damaging Het
Slc13a5 T C 11: 72,149,780 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Sos2 A T 12: 69,643,520 (GRCm39) D953E probably benign Het
Strbp A C 2: 37,535,660 (GRCm39) V16G probably benign Het
Sycp1 A T 3: 102,800,863 (GRCm39) M567K probably benign Het
Tedc2 A C 17: 24,439,584 (GRCm39) V19G probably damaging Het
Tjp1 A G 7: 64,950,812 (GRCm39) probably null Het
Ttn A T 2: 76,539,564 (GRCm39) V26147E probably damaging Het
Vmn1r86 A G 7: 12,836,574 (GRCm39) S51P probably damaging Het
Vmn2r83 A G 10: 79,316,067 (GRCm39) T488A possibly damaging Het
Zfp541 A G 7: 15,817,390 (GRCm39) Y945C probably damaging Het
Other mutations in Ppid
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Ppid APN 3 79,502,584 (GRCm39) missense probably damaging 1.00
IGL01718:Ppid APN 3 79,500,986 (GRCm39) missense probably damaging 1.00
R1109:Ppid UTSW 3 79,506,168 (GRCm39) missense probably benign 0.01
R1965:Ppid UTSW 3 79,509,606 (GRCm39) nonsense probably null
R1966:Ppid UTSW 3 79,509,606 (GRCm39) nonsense probably null
R1980:Ppid UTSW 3 79,500,925 (GRCm39) missense probably damaging 0.96
R4706:Ppid UTSW 3 79,506,359 (GRCm39) missense probably benign
R4820:Ppid UTSW 3 79,502,504 (GRCm39) splice site probably null
R5969:Ppid UTSW 3 79,505,024 (GRCm39) missense probably damaging 1.00
R6243:Ppid UTSW 3 79,510,373 (GRCm39) missense probably benign 0.01
R7246:Ppid UTSW 3 79,498,740 (GRCm39) unclassified probably benign
R7341:Ppid UTSW 3 79,507,604 (GRCm39) missense probably benign
R7576:Ppid UTSW 3 79,507,698 (GRCm39) missense probably damaging 1.00
R8696:Ppid UTSW 3 79,498,689 (GRCm39) unclassified probably benign
R9328:Ppid UTSW 3 79,505,059 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16