Incidental Mutation 'IGL01638:Ppil1'
ID93136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppil1
Ensembl Gene ENSMUSG00000024007
Gene Namepeptidylprolyl isomerase (cyclophilin)-like 1
SynonymsCypl1, 1110060O10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.874) question?
Stock #IGL01638
Quality Score
Status
Chromosome17
Chromosomal Location29250803-29264158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 29261792 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 52 (K52N)
Ref Sequence ENSEMBL: ENSMUSP00000024802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024802] [ENSMUST00000135123]
Predicted Effect probably benign
Transcript: ENSMUST00000024802
AA Change: K52N

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000024802
Gene: ENSMUSG00000024007
AA Change: K52N

DomainStartEndE-ValueType
Pfam:Pro_isomerase 13 163 5.8e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129157
Predicted Effect probably benign
Transcript: ENSMUST00000135123
SMART Domains Protein: ENSMUSP00000115705
Gene: ENSMUSG00000024007

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136811
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 is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,974,311 N2377D probably damaging Het
Adamts9 T C 6: 92,872,428 T436A probably benign Het
Adgrb3 T A 1: 25,559,751 probably benign Het
Ajap1 A G 4: 153,432,236 V216A possibly damaging Het
Akap7 T A 10: 25,267,425 I124F probably damaging Het
Arfgef2 G A 2: 166,873,945 V1385M probably damaging Het
Arhgap30 A G 1: 171,397,570 K65E probably damaging Het
Cacna1a T C 8: 84,571,827 F1260S probably damaging Het
Cad T A 5: 31,067,614 C954S probably damaging Het
Fcmr A T 1: 130,875,122 E157D probably benign Het
Gm4204 A T 1: 135,233,135 noncoding transcript Het
Gzmn A T 14: 56,169,019 D16E probably benign Het
Krt86 A C 15: 101,475,472 probably benign Het
Macc1 T C 12: 119,446,511 L338P probably benign Het
Ms4a6d A T 19: 11,587,168 L113Q probably damaging Het
Myh15 T C 16: 49,069,480 S145P probably damaging Het
Nav3 T C 10: 109,852,863 K518E probably damaging Het
Olfr974 T C 9: 39,942,520 S87P probably benign Het
Parp11 T A 6: 127,491,529 F181I probably benign Het
Prl5a1 T A 13: 28,145,439 C34S possibly damaging Het
Prss55 A G 14: 64,077,187 V178A probably benign Het
S100a7a A G 3: 90,655,530 D8G probably benign Het
Sh3glb2 A G 2: 30,345,850 V310A possibly damaging Het
Slc22a7 T C 17: 46,437,994 probably null Het
Slc27a6 A G 18: 58,607,813 D482G probably damaging Het
Smarcc2 T A 10: 128,488,074 probably benign Het
Specc1l T A 10: 75,246,205 Y478* probably null Het
Spryd3 A G 15: 102,130,276 probably null Het
Tcerg1l G A 7: 138,280,076 R295C probably damaging Het
Trpv1 T C 11: 73,253,329 I637T probably damaging Het
Ttc7 A C 17: 87,359,112 probably null Het
Vmn1r6 C T 6: 57,003,192 Q280* probably null Het
Other mutations in Ppil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Ppil1 APN 17 29251701 missense probably damaging 1.00
IGL01305:Ppil1 APN 17 29263888 missense possibly damaging 0.55
IGL01854:Ppil1 APN 17 29263888 missense possibly damaging 0.55
IGL03367:Ppil1 APN 17 29252244 splice site probably benign
ANU22:Ppil1 UTSW 17 29263888 missense possibly damaging 0.55
R0068:Ppil1 UTSW 17 29252256 missense probably damaging 0.98
R0068:Ppil1 UTSW 17 29252256 missense probably damaging 0.98
R1716:Ppil1 UTSW 17 29261835 missense possibly damaging 0.94
R6597:Ppil1 UTSW 17 29261878 missense probably benign 0.01
R6598:Ppil1 UTSW 17 29261878 missense probably benign 0.01
Posted On2013-12-09