Incidental Mutation 'R6598:Ppil1'
ID 525089
Institutional Source Beutler Lab
Gene Symbol Ppil1
Ensembl Gene ENSMUSG00000024007
Gene Name peptidylprolyl isomerase (cyclophilin)-like 1
Synonyms Cypl1, 1110060O10Rik
MMRRC Submission 044722-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.798) question?
Stock # R6598 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 29469809-29482945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29480852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 24 (V24F)
Ref Sequence ENSEMBL: ENSMUSP00000024802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024802] [ENSMUST00000135123]
AlphaFold Q9D0W5
Predicted Effect probably benign
Transcript: ENSMUST00000024802
AA Change: V24F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000024802
Gene: ENSMUSG00000024007
AA Change: V24F

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,007,502 (GRCm39) S943T probably benign Het
Adgrv1 T G 13: 81,654,298 (GRCm39) E2911A probably damaging Het
Ankrd28 A G 14: 31,430,896 (GRCm39) F819S probably damaging Het
Cald1 G A 6: 34,723,575 (GRCm39) probably null Het
Clca3a2 G T 3: 144,792,246 (GRCm39) Y338* probably null Het
Cmya5 C T 13: 93,226,316 (GRCm39) G2924D probably benign Het
Col6a4 A T 9: 105,877,611 (GRCm39) L2122Q probably damaging Het
Dapk1 T C 13: 60,909,161 (GRCm39) F1258S probably benign Het
Ddx39a T C 8: 84,449,556 (GRCm39) V387A probably benign Het
Dscam A G 16: 96,620,984 (GRCm39) C575R probably damaging Het
Dyrk4 C T 6: 126,853,289 (GRCm39) V632M probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ermp1 A G 19: 29,609,902 (GRCm39) S111P possibly damaging Het
Fbxo40 A T 16: 36,789,376 (GRCm39) L578Q probably damaging Het
Frem1 A T 4: 82,932,065 (GRCm39) F212Y probably damaging Het
Golm2 A T 2: 121,763,966 (GRCm39) E247D probably damaging Het
Golm2 G A 2: 121,763,967 (GRCm39) E383K probably damaging Het
Icos T G 1: 61,033,856 (GRCm39) I162S possibly damaging Het
Kcnj8 G T 6: 142,515,959 (GRCm39) N49K probably damaging Het
Ldhb A T 6: 142,436,326 (GRCm39) M281K possibly damaging Het
Med17 T C 9: 15,182,996 (GRCm39) K350E probably benign Het
Mpo A T 11: 87,690,798 (GRCm39) N412I probably benign Het
Mrps24 A T 11: 5,654,713 (GRCm39) D80E probably benign Het
Myo5c A G 9: 75,153,516 (GRCm39) D134G probably damaging Het
Ndufs1 T C 1: 63,204,109 (GRCm39) Q140R probably null Het
Nsd1 T C 13: 55,441,515 (GRCm39) V1662A possibly damaging Het
Or10ag53 C T 2: 87,083,100 (GRCm39) T273I probably damaging Het
Or5p51 G A 7: 107,444,470 (GRCm39) L157F probably benign Het
Or6c88 C A 10: 129,407,238 (GRCm39) T238N probably damaging Het
Polq G A 16: 36,881,993 (GRCm39) A1386T probably benign Het
Prim1 G T 10: 127,856,049 (GRCm39) V165L possibly damaging Het
Slc12a2 G A 18: 58,031,145 (GRCm39) V317I probably benign Het
Tbpl1 A G 10: 22,583,748 (GRCm39) V103A probably damaging Het
Tmprss11c C T 5: 86,437,092 (GRCm39) E10K probably benign Het
Unc80 T G 1: 66,507,699 (GRCm39) probably null Het
Uqcrc1 G T 9: 108,776,690 (GRCm39) V30F possibly damaging Het
Vmn1r88 T C 7: 12,912,150 (GRCm39) Y169H probably damaging Het
Zan A T 5: 137,404,626 (GRCm39) probably benign Het
Zc3h13 A G 14: 75,569,623 (GRCm39) D1490G probably damaging Het
Zer1 T A 2: 30,003,286 (GRCm39) S44C probably damaging Het
Zfp106 T A 2: 120,365,541 (GRCm39) K289* probably null Het
Zfp618 A G 4: 63,007,636 (GRCm39) Y155C probably damaging Het
Zfp979 A G 4: 147,698,223 (GRCm39) L162P probably damaging Het
Other mutations in Ppil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Ppil1 APN 17 29,470,675 (GRCm39) missense probably damaging 1.00
IGL01305:Ppil1 APN 17 29,482,862 (GRCm39) missense possibly damaging 0.55
IGL01638:Ppil1 APN 17 29,480,766 (GRCm39) missense probably benign 0.09
IGL01854:Ppil1 APN 17 29,482,862 (GRCm39) missense possibly damaging 0.55
IGL03367:Ppil1 APN 17 29,471,218 (GRCm39) splice site probably benign
ANU22:Ppil1 UTSW 17 29,482,862 (GRCm39) missense possibly damaging 0.55
R0068:Ppil1 UTSW 17 29,471,230 (GRCm39) missense probably damaging 0.98
R0068:Ppil1 UTSW 17 29,471,230 (GRCm39) missense probably damaging 0.98
R1716:Ppil1 UTSW 17 29,480,809 (GRCm39) missense possibly damaging 0.94
R6597:Ppil1 UTSW 17 29,480,852 (GRCm39) missense probably benign 0.01
R7880:Ppil1 UTSW 17 29,480,762 (GRCm39) missense probably damaging 1.00
R8183:Ppil1 UTSW 17 29,481,053 (GRCm39) splice site probably null
R9607:Ppil1 UTSW 17 29,470,481 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- CTCCCCAATGGTGGCTTAAG -3'
(R):5'- GCATCGGCACATGCTTTTAG -3'

Sequencing Primer
(F):5'- CCCAATGGTGGCTTAAGTGTACC -3'
(R):5'- GAACATTGTATGCCAGAGCTGTCC -3'
Posted On 2018-06-22