Incidental Mutation 'R6243:Ppid'
ID 505361
Institutional Source Beutler Lab
Gene Symbol Ppid
Ensembl Gene ENSMUSG00000027804
Gene Name peptidylprolyl isomerase D (cyclophilin D)
Synonyms CYP-40, cytoplasmic cyclophilin D, Ppidl, 4930564J03Rik, cyclophilin 40
MMRRC Submission 044365-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R6243 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 79498649-79510957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79510373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 354 (I354V)
Ref Sequence ENSEMBL: ENSMUSP00000029382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029382] [ENSMUST00000029386] [ENSMUST00000120992]
AlphaFold Q9CR16
Predicted Effect probably benign
Transcript: ENSMUST00000029382
AA Change: I354V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000029382
Gene: ENSMUSG00000027804
AA Change: I354V

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 probably benign
Transcript: ENSMUST00000029386
SMART Domains Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809

DomainStartEndE-ValueType
Pfam:Thi4 57 123 5.3e-9 PFAM
Pfam:FAD_binding_2 69 120 1.7e-7 PFAM
Pfam:Lycopene_cycl 69 125 5.7e-8 PFAM
Pfam:NAD_binding_8 72 122 9.7e-8 PFAM
Pfam:ETF_QO 511 614 1.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120992
SMART Domains Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809

DomainStartEndE-ValueType
Pfam:Thi4 1 63 2e-8 PFAM
Pfam:FAD_binding_2 9 59 4.7e-8 PFAM
Pfam:Pyr_redox_2 9 209 1.7e-7 PFAM
Pfam:NAD_binding_9 11 56 2.1e-7 PFAM
Pfam:NAD_binding_8 12 61 2.8e-8 PFAM
Pfam:ETF_QO 402 511 3e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161876
Meta Mutation Damage Score 0.0697 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (73/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,450,809 (GRCm39) S331P probably damaging Het
Akap9 T G 5: 4,115,000 (GRCm39) probably null Het
Ankef1 A G 2: 136,379,077 (GRCm39) E9G probably damaging Het
Ap1g2 T C 14: 55,336,530 (GRCm39) E788G probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asrgl1 A T 19: 9,093,868 (GRCm39) I220K probably damaging Het
Atg16l2 A C 7: 100,941,536 (GRCm39) *404E probably null Het
Atp4a T C 7: 30,415,382 (GRCm39) F334S possibly damaging Het
Atp6v0d1 T C 8: 106,292,495 (GRCm39) E17G probably benign Het
Bcat2 T C 7: 45,237,691 (GRCm39) V279A probably benign Het
Birc6 T G 17: 74,916,382 (GRCm39) M459R probably damaging Het
Bsn T C 9: 107,984,760 (GRCm39) Y3098C unknown Het
Btaf1 T A 19: 36,958,520 (GRCm39) M679K probably benign Het
Cirop T A 14: 54,933,216 (GRCm39) R322S probably damaging Het
Col6a4 T C 9: 105,890,589 (GRCm39) T1902A possibly damaging Het
Crhr1 G A 11: 104,064,740 (GRCm39) C364Y probably damaging Het
Crmp1 T C 5: 37,446,288 (GRCm39) L648P probably damaging Het
Cyfip1 T C 7: 55,550,277 (GRCm39) Y671H probably damaging Het
Cyp2b13 C T 7: 25,761,044 (GRCm39) P34S probably damaging Het
Dnajb6 T A 5: 29,986,131 (GRCm39) V233E probably benign Het
Dnhd1 A T 7: 105,301,216 (GRCm39) H191L probably damaging Het
Dsg3 T A 18: 20,672,781 (GRCm39) D817E probably damaging Het
Dytn T C 1: 63,686,680 (GRCm39) Q330R possibly damaging Het
Fads1 G T 19: 10,163,091 (GRCm39) E123* probably null Het
Fchsd2 T C 7: 100,921,016 (GRCm39) probably benign Het
Fmo9 T C 1: 166,494,938 (GRCm39) E270G probably benign Het
Folr1 T A 7: 101,513,172 (GRCm39) H41L probably damaging Het
Gm7298 A G 6: 121,756,096 (GRCm39) N985S possibly damaging Het
Gp1ba T C 11: 70,530,963 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Igf2bp3 A T 6: 49,084,362 (GRCm39) N285K possibly damaging Het
Lca5l G A 16: 95,980,112 (GRCm39) T6I possibly damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Mpeg1 A G 19: 12,439,604 (GRCm39) H354R probably benign Het
Msh6 T A 17: 88,290,999 (GRCm39) V195E possibly damaging Het
Mtfmt C T 9: 65,351,182 (GRCm39) T243I probably benign Het
Myo1h T A 5: 114,500,208 (GRCm39) I195K probably damaging Het
Nr1h5 T C 3: 102,856,380 (GRCm39) K300E probably benign Het
Nuak2 T C 1: 132,260,105 (GRCm39) S628P probably benign Het
Nup214 G T 2: 31,892,944 (GRCm39) A721S possibly damaging Het
Or12e13 A G 2: 87,663,385 (GRCm39) M1V probably null Het
Or5d47 A G 2: 87,804,931 (GRCm39) V26A probably benign Het
Pclo T C 5: 14,726,457 (GRCm39) probably benign Het
Phf20 A G 2: 156,065,320 (GRCm39) S12G probably benign Het
Pik3r5 T C 11: 68,382,826 (GRCm39) Y289H probably damaging Het
Pld1 T C 3: 28,149,954 (GRCm39) I717T probably damaging Het
Plxdc1 A G 11: 97,846,299 (GRCm39) Y182H probably damaging Het
Prss2 T C 6: 41,501,387 (GRCm39) V152A probably benign Het
Rab28 C T 5: 41,793,223 (GRCm39) A141T probably benign Het
Rabgap1l C T 1: 160,472,877 (GRCm39) probably null Het
Rabl6 T G 2: 25,475,415 (GRCm39) S553R probably damaging Het
Rars1 A G 11: 35,717,374 (GRCm39) F170S possibly damaging Het
Ror2 T A 13: 53,267,116 (GRCm39) M440L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph4a A T 10: 33,785,139 (GRCm39) Q350L probably damaging Het
Serpinb2 T C 1: 107,450,869 (GRCm39) F204L probably damaging Het
Sertad4 T C 1: 192,533,257 (GRCm39) probably null Het
Shisa3 C T 5: 67,768,486 (GRCm39) P129S probably benign Het
Slc13a2 G A 11: 78,295,534 (GRCm39) L111F probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Stab2 T A 10: 86,743,025 (GRCm39) R1195W probably damaging Het
Syna C A 5: 134,588,968 (GRCm39) probably benign Het
Thada A T 17: 84,744,030 (GRCm39) D759E probably benign Het
Thoc5 A G 11: 4,869,753 (GRCm39) Y385C possibly damaging Het
Thsd7a C T 6: 12,327,601 (GRCm39) D1424N probably damaging Het
Thsd7b A T 1: 130,090,599 (GRCm39) Q1204L probably benign Het
Tnfrsf8 T C 4: 145,029,671 (GRCm39) N43S possibly damaging Het
Trim66 T C 7: 109,059,481 (GRCm39) K921R probably benign Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ugt2a2 T G 5: 87,610,818 (GRCm39) K339N probably benign Het
Vmn2r8 T C 5: 108,947,211 (GRCm39) T514A probably benign Het
Wrn A T 8: 33,774,682 (GRCm39) M652K possibly damaging Het
Yme1l1 A T 2: 23,083,184 (GRCm39) Y550F probably benign Het
Zfp995 G A 17: 22,099,269 (GRCm39) P322S 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
IGL02347:Ppid APN 3 79,502,526 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ATGTTGCACAGTAGCTAAGGTAG -3'
(R):5'- AACCTGTGTCAGCACTGCTATG -3'

Sequencing Primer
(F):5'- TGCAGATAAAAGTGACCCTAGG -3'
(R):5'- CTGTGTCAGCACTGCTATGTAAAC -3'
Posted On 2018-02-28