Incidental Mutation 'R5969:Ppid'
ID 470732
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 044152-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R5969 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 79498649-79510957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79505024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 122 (N122K)
Ref Sequence ENSEMBL: ENSMUSP00000029382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029382]
AlphaFold Q9CR16
Predicted Effect probably damaging
Transcript: ENSMUST00000029382
AA Change: N122K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029382
Gene: ENSMUSG00000027804
AA Change: N122K

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: ENSMUST00000159505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162690
Meta Mutation Damage Score 0.9212 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 99% (67/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A C 15: 102,258,999 (GRCm39) Y19D probably damaging Het
Abca13 T A 11: 9,242,214 (GRCm39) L1359* probably null Het
Ahi1 A T 10: 20,860,292 (GRCm39) D671V probably damaging Het
Ahnak T C 19: 8,993,949 (GRCm39) S5078P probably damaging Het
Ankhd1 A T 18: 36,733,887 (GRCm39) T584S probably damaging Het
Apba2 T A 7: 64,394,195 (GRCm39) L568* probably null Het
Cenpn C A 8: 117,667,276 (GRCm39) L300I probably damaging Het
Cmya5 A T 13: 93,226,052 (GRCm39) L3012Q possibly damaging Het
Cnnm1 T C 19: 43,479,911 (GRCm39) S819P probably damaging Het
Cpa6 A T 1: 10,559,108 (GRCm39) S87T probably benign Het
Crybg2 T A 4: 133,803,003 (GRCm39) probably null Het
Csmd1 T A 8: 16,121,367 (GRCm39) T1777S probably benign Het
Csmd3 G T 15: 47,811,386 (GRCm39) P1235Q probably damaging Het
Cxcr4 T A 1: 128,517,584 (GRCm39) N24Y probably benign Het
D630003M21Rik G T 2: 158,059,628 (GRCm39) H91N probably damaging Het
Ece1 T C 4: 137,689,051 (GRCm39) probably null Het
Edc3 T C 9: 57,620,711 (GRCm39) S11P probably damaging Het
Eif1ad14 T C 12: 87,886,248 (GRCm39) D127G unknown Het
Exoc3 G A 13: 74,320,305 (GRCm39) Q719* probably null Het
Fam13a A G 6: 58,942,183 (GRCm39) M203T probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fhip2a C T 19: 57,372,555 (GRCm39) R602* probably null Het
Fxyd2 T A 9: 45,319,628 (GRCm39) I30N probably damaging Het
Gapt A G 13: 110,490,480 (GRCm39) V61A probably benign Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gpr35 T C 1: 92,910,942 (GRCm39) V2A probably damaging Het
Gtf3c1 A G 7: 125,244,848 (GRCm39) S1729P possibly damaging Het
Heatr5a T C 12: 52,005,823 (GRCm39) T51A probably benign Het
Kat6b G A 14: 21,720,860 (GRCm39) M1737I probably damaging Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klk10 A G 7: 43,434,409 (GRCm39) Y267C probably damaging Het
Lgmn T C 12: 102,372,086 (GRCm39) Y98C probably damaging Het
Lyst A C 13: 13,862,398 (GRCm39) probably null Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mfng A T 15: 78,648,582 (GRCm39) V165D possibly damaging Het
Mto1 A G 9: 78,360,187 (GRCm39) E225G probably damaging Het
Notch3 C A 17: 32,372,858 (GRCm39) C571F probably damaging Het
Nup205 C T 6: 35,154,513 (GRCm39) probably benign Het
Or51b6 T A 7: 103,556,117 (GRCm39) I157N probably damaging Het
P2ry14 T A 3: 59,022,579 (GRCm39) I303F probably damaging Het
Pcnx3 T C 19: 5,735,563 (GRCm39) D421G probably damaging Het
Pdlim4 T C 11: 53,954,482 (GRCm39) H75R possibly damaging Het
Phf21a A T 2: 92,051,956 (GRCm39) H17L probably damaging Het
Ppp4r3a T C 12: 101,009,838 (GRCm39) I613V probably benign Het
Prcp C T 7: 92,566,974 (GRCm39) P229S probably benign Het
Ralgds T C 2: 28,432,426 (GRCm39) V85A probably damaging Het
Rgs22 G A 15: 36,015,782 (GRCm39) T1034I probably benign Het
Slc4a3 T C 1: 75,526,623 (GRCm39) V48A probably damaging Het
Snx16 A T 3: 10,503,217 (GRCm39) M10K possibly damaging Het
Svep1 G A 4: 58,070,977 (GRCm39) Q2270* probably null Het
Tmem185b T G 1: 119,455,193 (GRCm39) I318S probably benign Het
Tnik C T 3: 28,675,097 (GRCm39) R657C probably damaging Het
Top3b T C 16: 16,701,429 (GRCm39) probably null Het
Trim40 C T 17: 37,193,319 (GRCm39) R203H probably benign Het
Triobp T A 15: 78,851,740 (GRCm39) N631K probably benign Het
Ubr3 T G 2: 69,809,730 (GRCm39) Y1233* probably null Het
Vgll3 A G 16: 65,636,449 (GRCm39) D200G probably damaging Het
Vmn2r24 G A 6: 123,755,981 (GRCm39) E18K probably benign Het
Zfp141 C A 7: 42,138,912 (GRCm39) R40L 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
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
Predicted Primers PCR Primer
(F):5'- CATTTAAGGTGGAGTGCTTAAAGTC -3'
(R):5'- CCGACATGCTAACTACGCTG -3'

Sequencing Primer
(F):5'- GTGGAGTGCTTAAAGTCAAACC -3'
(R):5'- GACATGCTAACTACGCTGTATGTTTC -3'
Posted On 2017-03-31