Incidental Mutation 'ANU22:Ppil1'
ID 262612
Institutional Source Beutler Lab
Gene Symbol Ppil1
Ensembl Gene ENSMUSG00000024007
Gene Name peptidylprolyl isomerase (cyclophilin)-like 1
Synonyms Cypl1, 1110060O10Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.798) question?
Stock # ANU22
Quality Score 208
Status Not validated
Chromosome 17
Chromosomal Location 29469809-29482945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29482862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 14 (V14F)
Ref Sequence ENSEMBL: ENSMUSP00000024802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024802] [ENSMUST00000064709] [ENSMUST00000120346] [ENSMUST00000135123]
AlphaFold Q9D0W5
Predicted Effect possibly damaging
Transcript: ENSMUST00000024802
AA Change: V14F

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000024802
Gene: ENSMUSG00000024007
AA Change: V14F

DomainStartEndE-ValueType
Pfam:Pro_isomerase 13 163 5.8e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064709
SMART Domains Protein: ENSMUSP00000066224
Gene: ENSMUSG00000052712

DomainStartEndE-ValueType
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 222 236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120346
SMART Domains Protein: ENSMUSP00000113315
Gene: ENSMUSG00000052712

DomainStartEndE-ValueType
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 222 236 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129157
Predicted Effect unknown
Transcript: ENSMUST00000135123
AA Change: V9F
SMART Domains Protein: ENSMUSP00000115705
Gene: ENSMUSG00000024007
AA Change: V9F

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 98.1%
  • 10x: 96.2%
  • 20x: 92.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,797,915 (GRCm39) E663G possibly damaging Het
Adam29 T A 8: 56,324,879 (GRCm39) H525L probably benign Het
Adamts2 A G 11: 50,628,190 (GRCm39) N297D probably benign Het
Adamts6 T A 13: 104,526,590 (GRCm39) V506E probably damaging Het
Ankfy1 G A 11: 72,655,617 (GRCm39) E1101K probably damaging Het
Arap3 C T 18: 38,124,380 (GRCm39) probably null Het
Asxl3 T A 18: 22,649,503 (GRCm39) H497Q probably benign Het
Caln1 A G 5: 130,698,392 (GRCm39) E96G probably damaging Het
Cdh23 T C 10: 60,148,403 (GRCm39) T2653A probably damaging Het
Cdk5rap2 T A 4: 70,298,472 (GRCm39) I87F possibly damaging Het
Crybg3 T A 16: 59,349,590 (GRCm39) H934L probably damaging Het
Cyp2d22 G A 15: 82,255,869 (GRCm39) T461I probably damaging Het
Dhcr24 T C 4: 106,429,475 (GRCm39) F183L possibly damaging Het
Dusp16 A T 6: 134,695,824 (GRCm39) S336T probably benign Het
F930017D23Rik T G 10: 43,480,371 (GRCm39) noncoding transcript Het
Fasl A G 1: 161,609,407 (GRCm39) V193A probably damaging Het
Fgf5 T C 5: 98,423,175 (GRCm39) Y187H probably damaging Het
Focad C A 4: 88,311,784 (GRCm39) Q1423K probably benign Het
Gabrp T C 11: 33,505,055 (GRCm39) T249A probably damaging Het
Galnt5 A T 2: 57,915,354 (GRCm39) K637* probably null Het
Grm6 A T 11: 50,750,346 (GRCm39) D503V probably benign Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Lyst C T 13: 13,852,641 (GRCm39) R2214C probably benign Het
Micu2 T A 14: 58,181,082 (GRCm39) D184V probably damaging Het
Nabp2 T A 10: 128,244,631 (GRCm39) I52F probably damaging Het
Nat8f7 A T 6: 85,684,570 (GRCm39) L90* probably null Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4k47 T C 2: 111,451,546 (GRCm39) N291S probably damaging Het
Pphln1 A G 15: 93,386,985 (GRCm39) E273G probably damaging Het
Ptprd C A 4: 76,018,693 (GRCm39) D694Y probably damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Skic8 C A 9: 54,635,470 (GRCm39) V44L probably damaging Het
Sptbn4 G A 7: 27,056,812 (GRCm39) R2525* probably null Het
St8sia5 G A 18: 77,342,358 (GRCm39) G320D probably damaging Het
Taf2 T C 15: 54,911,670 (GRCm39) E582G probably damaging Het
Tas2r116 T A 6: 132,832,406 (GRCm39) N2K probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem168 A T 6: 13,583,045 (GRCm39) V612E probably damaging Het
Unc79 A G 12: 102,968,130 (GRCm39) S119G probably damaging Het
Washc5 T A 15: 59,227,688 (GRCm39) K425* probably null Het
Wtap G T 17: 13,186,782 (GRCm39) T255K probably benign Het
Zfp148 T C 16: 33,277,313 (GRCm39) V134A probably benign Het
Zfp397 C T 18: 24,093,808 (GRCm39) S431L 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
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
R6598: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'- GCGCATGGCTTGTGTGATCAAC -3'
(R):5'- GCACTGAGCATTTCGACTTGCAAC -3'

Sequencing Primer
(F):5'- aatgagtgagtgagtgaatgaatg -3'
(R):5'- CTTCCCAGCCTAGAAAGAAGG -3'
Posted On 2015-02-04