Incidental Mutation 'IGL02192:Ppil3'
ID283886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppil3
Ensembl Gene ENSMUSG00000026035
Gene Namepeptidylprolyl isomerase (cyclophilin)-like 3
Synonyms2510026K04Rik, Cyp10l, 2310076N22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #IGL02192
Quality Score
Status
Chromosome1
Chromosomal Location58430994-58445486 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58438388 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 66 (I66V)
Ref Sequence ENSEMBL: ENSMUSP00000139979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081677] [ENSMUST00000114345] [ENSMUST00000114348] [ENSMUST00000117069] [ENSMUST00000185990] [ENSMUST00000190048]
Predicted Effect probably benign
Transcript: ENSMUST00000081677
AA Change: I66V

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080378
Gene: ENSMUSG00000026035
AA Change: I66V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 3.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114345
AA Change: I66V

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109984
Gene: ENSMUSG00000026035
AA Change: I66V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 120 8.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114348
AA Change: I66V

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109988
Gene: ENSMUSG00000026035
AA Change: I66V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 3.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117069
AA Change: I66V

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112947
Gene: ENSMUSG00000026035
AA Change: I66V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 5.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124550
Predicted Effect probably damaging
Transcript: ENSMUST00000185990
AA Change: I66V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035
AA Change: I66V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 90 1.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188896
Predicted Effect possibly damaging
Transcript: ENSMUST00000190048
AA Change: I66V

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139617
Gene: ENSMUSG00000026035
AA Change: I66V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 91 3.1e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,898,400 M545K possibly damaging Het
Adamtsl1 A G 4: 86,228,016 E303G probably damaging Het
Anxa13 A T 15: 58,348,780 noncoding transcript Het
Ap2b1 C T 11: 83,346,766 T552I possibly damaging Het
Cars T C 7: 143,571,588 S388G probably damaging Het
Cdh18 A T 15: 23,460,316 D544V probably damaging Het
Chat T C 14: 32,423,322 R377G possibly damaging Het
Col14a1 A G 15: 55,362,402 T154A unknown Het
Col9a1 C T 1: 24,221,987 P311S probably damaging Het
Cpsf3 G T 12: 21,310,193 probably benign Het
Cpsf3 G T 12: 21,310,196 probably null Het
Dock8 T C 19: 25,078,205 probably null Het
Eml6 A G 11: 29,805,743 I837T probably benign Het
Epb41 T C 4: 131,929,717 T792A probably damaging Het
Exph5 A T 9: 53,376,325 R1569* probably null Het
F13b A T 1: 139,517,333 T574S probably damaging Het
Fam160a1 A G 3: 85,673,326 L524P possibly damaging Het
Fam184b G T 5: 45,537,720 D727E probably benign Het
Fhod3 T C 18: 25,056,358 L619P probably damaging Het
Fsd1l A G 4: 53,647,754 I66V probably benign Het
Fv1 A G 4: 147,870,255 D426G possibly damaging Het
Gm3371 A T 14: 44,403,778 probably benign Het
Hnf1a A T 5: 114,960,118 S142T probably damaging Het
Itgb3 A G 11: 104,643,939 I541V probably benign Het
Itgbl1 G T 14: 123,843,926 C239F probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Larp1b G T 3: 40,967,494 S116I probably benign Het
Lmtk3 A G 7: 45,794,509 probably benign Het
Mapk10 T C 5: 102,989,647 I235V probably damaging Het
Mctp1 C T 13: 76,731,768 probably benign Het
Megf8 G A 7: 25,353,860 D1819N probably damaging Het
Muc6 T C 7: 141,637,804 T2254A possibly damaging Het
Nbr1 T A 11: 101,569,591 S444T probably damaging Het
Ncor2 A T 5: 125,024,237 D1956E probably damaging Het
Ndufaf5 T C 2: 140,188,743 V183A probably benign Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Npy5r T A 8: 66,681,346 H265L probably benign Het
Olfr1008 G A 2: 85,690,128 G233D possibly damaging Het
Olfr418 T A 1: 173,270,850 L225H probably damaging Het
Pop1 A G 15: 34,529,071 E749G probably benign Het
Prl4a1 C A 13: 28,018,571 T43K possibly damaging Het
Prop1 A G 11: 50,953,286 probably benign Het
Qrsl1 A T 10: 43,885,014 I218N probably damaging Het
Rbm22 T A 18: 60,564,412 M63K possibly damaging Het
Rictor T C 15: 6,786,414 S1056P probably benign Het
Rps6kb2 T C 19: 4,157,588 T388A probably damaging Het
Slc7a5 A G 8: 121,886,390 probably benign Het
Sp100 A T 1: 85,708,001 D509V probably damaging Het
Spata18 G T 5: 73,672,518 probably null Het
Sspo C A 6: 48,459,568 T1254K possibly damaging Het
Stk19 A G 17: 34,832,158 probably benign Het
Taar8b T A 10: 24,091,364 I311F probably damaging Het
Themis2 C A 4: 132,783,347 probably null Het
Tll2 T C 19: 41,086,263 Y937C possibly damaging Het
Trim34a T A 7: 104,247,732 M1K probably null Het
Usp50 G A 2: 126,778,038 T118I possibly damaging Het
Vps13d G A 4: 145,148,858 S1693F probably benign Het
Vps16 T A 2: 130,440,932 I467N probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Ppil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01536:Ppil3 APN 1 58444591 start codon destroyed probably null 0.01
R1342:Ppil3 UTSW 1 58440878 missense probably damaging 1.00
R3161:Ppil3 UTSW 1 58434414 missense probably benign 0.01
R4564:Ppil3 UTSW 1 58431322 missense probably damaging 0.96
R4734:Ppil3 UTSW 1 58431269 missense probably benign 0.00
R5129:Ppil3 UTSW 1 58440833 splice site probably benign
Posted On2015-04-16