Incidental Mutation 'IGL01536:Ppil3'
ID89965
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: 0.222) question?
Stock #IGL01536
Quality Score
Status
Chromosome1
Chromosomal Location58430994-58445486 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to C at 58444591 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000112947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081677] [ENSMUST00000087521] [ENSMUST00000114337] [ENSMUST00000114345] [ENSMUST00000114348] [ENSMUST00000117069] [ENSMUST00000129759] [ENSMUST00000151272] [ENSMUST00000171597] [ENSMUST00000185990] [ENSMUST00000190048]
Predicted Effect probably null
Transcript: ENSMUST00000081677
AA Change: M1V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000080378
Gene: ENSMUSG00000026035
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 3.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087521
SMART Domains Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036

DomainStartEndE-ValueType
Pfam:NIF3 31 363 1.9e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114337
SMART Domains Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036

DomainStartEndE-ValueType
Pfam:NIF3 31 324 4e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114345
AA Change: M1V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109984
Gene: ENSMUSG00000026035
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 120 8.5e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114348
AA Change: M1V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109988
Gene: ENSMUSG00000026035
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 3.9e-53 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117069
AA Change: M1V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112947
Gene: ENSMUSG00000026035
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 154 5.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124550
Predicted Effect probably benign
Transcript: ENSMUST00000129759
SMART Domains Protein: ENSMUSP00000124713
Gene: ENSMUSG00000026036

DomainStartEndE-ValueType
Pfam:NIF3 31 154 2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140723
Predicted Effect probably benign
Transcript: ENSMUST00000151272
SMART Domains Protein: ENSMUSP00000123553
Gene: ENSMUSG00000026036

DomainStartEndE-ValueType
Pfam:NIF3 31 131 3.1e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171597
SMART Domains Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036

DomainStartEndE-ValueType
Pfam:NIF3 31 363 2.5e-77 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000185990
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 90 1.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188896
Predicted Effect probably null
Transcript: ENSMUST00000190048
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139617
Gene: ENSMUSG00000026035
AA Change: M1V

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5a1 T C 18: 77,780,312 probably benign Het
Ccnc A G 4: 21,732,505 I81V probably benign Het
Cep112 A G 11: 108,531,411 D560G probably null Het
Dis3 A G 14: 99,079,423 Y826H probably damaging Het
Dtx2 A G 5: 136,010,086 probably benign Het
Enpp4 T C 17: 44,099,603 K361E possibly damaging Het
Erap1 A T 13: 74,662,423 K294* probably null Het
Erbb4 T A 1: 68,290,282 Y636F probably benign Het
Fads1 C A 19: 10,194,030 Q342K probably benign Het
Fntb A T 12: 76,920,130 T447S probably benign Het
Hdac4 A G 1: 91,930,146 probably benign Het
Kcnh2 A G 5: 24,326,524 I463T probably damaging Het
Kif13a G T 13: 46,752,289 T726K probably damaging Het
Lcmt1 T C 7: 123,422,743 S275P possibly damaging Het
Lmnb1 T C 18: 56,740,796 S425P probably benign Het
Lrp1b T C 2: 41,110,883 I2224V probably benign Het
Lrrc45 A T 11: 120,715,584 T173S probably benign Het
Muc4 T C 16: 32,763,966 Y2590H possibly damaging Het
Myo18a C T 11: 77,820,851 P676L probably damaging Het
Olfr1023 T C 2: 85,887,600 S267P probably damaging Het
Pcdhb15 T C 18: 37,474,993 M426T probably benign Het
Pik3cd A G 4: 149,652,666 V891A probably damaging Het
Polr1b A G 2: 129,125,555 N956S probably benign Het
Rad1 T A 15: 10,493,200 S238T possibly damaging Het
Shc3 A C 13: 51,516,559 S51A probably damaging Het
Slc9c1 T C 16: 45,589,629 probably null Het
Smg5 A G 3: 88,349,245 K273E possibly damaging Het
Sntg1 C T 1: 8,583,200 probably null Het
Sstr4 T C 2: 148,395,880 L137P probably damaging Het
Taar8b C T 10: 24,091,595 V234I probably benign Het
Tbc1d9 A G 8: 83,260,992 Y860C probably damaging Het
Tll1 A T 8: 64,074,289 S399R probably damaging Het
Tns1 T C 1: 73,919,648 probably benign Het
Trim10 T A 17: 36,877,288 probably null Het
Ttn C T 2: 76,732,351 probably null Het
Usp43 T C 11: 67,855,938 D981G probably benign Het
Vmn2r108 A T 17: 20,463,281 C554S probably damaging Het
Vmn2r112 T A 17: 22,605,155 Y464N probably damaging Het
Vmn2r31 T C 7: 7,384,848 K575E probably damaging Het
Vmn2r50 C T 7: 10,037,683 C697Y probably damaging Het
Zcchc8 A C 5: 123,720,719 probably null Het
Other mutations in Ppil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Ppil3 APN 1 58438388 missense probably damaging 0.97
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
R7782:Ppil3 UTSW 1 58434415 missense probably benign 0.00
R7789:Ppil3 UTSW 1 58434379 missense possibly damaging 0.93
R8176:Ppil3 UTSW 1 58440919 nonsense probably null
Z1177:Ppil3 UTSW 1 58440894 missense probably benign 0.01
Posted On2013-12-03