Incidental Mutation 'R3028:Ppib'
ID 265887
Institutional Source Beutler Lab
Gene Symbol Ppib
Ensembl Gene ENSMUSG00000032383
Gene Name peptidylprolyl isomerase B
Synonyms Cphn2, Cphn-2, CyP-20b, cyclophilin B
MMRRC Submission 040544-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R3028 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 65967504-65973905 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 65973589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 181 (K181*)
Ref Sequence ENSEMBL: ENSMUSP00000034947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034947] [ENSMUST00000044711]
AlphaFold P24369
Predicted Effect probably null
Transcript: ENSMUST00000034947
AA Change: K181*
SMART Domains Protein: ENSMUSP00000034947
Gene: ENSMUSG00000032383
AA Change: K181*

DomainStartEndE-ValueType
Pfam:Pro_isomerase 47 204 2.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044711
SMART Domains Protein: ENSMUSP00000044389
Gene: ENSMUSG00000039452

DomainStartEndE-ValueType
PX 4 108 2.09e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213785
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214332
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a null mutations develop kyphosis and severe osteoporosis. Bone structure abnormalities are also seen in the trabecular and cortical regions of the long bones. Bone mineral density is reduced, and bones have reduced strength and are susceptible to fractures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 T G 8: 18,753,560 (GRCm39) K289Q probably benign Het
Avl9 T A 6: 56,707,672 (GRCm39) probably benign Het
Crybg2 A G 4: 133,801,095 (GRCm39) K752E probably benign Het
Cyp4a10 T C 4: 115,375,628 (GRCm39) F37S possibly damaging Het
Gtpbp1 C T 15: 79,600,080 (GRCm39) T369I possibly damaging Het
Hcrtr1 C A 4: 130,029,604 (GRCm39) R159L probably benign Het
Hipk3 T C 2: 104,264,135 (GRCm39) I809V probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhdc4 C T 8: 122,526,288 (GRCm39) V284M probably damaging Het
N6amt1 C G 16: 87,159,536 (GRCm39) H147Q probably benign Het
Pdgfra A T 5: 75,335,642 (GRCm39) H425L probably damaging Het
Phlpp2 C T 8: 110,634,245 (GRCm39) A240V probably damaging Het
Rab11fip3 A G 17: 26,234,916 (GRCm39) probably null Het
Sftpc A T 14: 70,758,865 (GRCm39) H161Q probably benign Het
Sigirr A G 7: 140,672,192 (GRCm39) L251P probably damaging Het
Skint6 A T 4: 113,093,690 (GRCm39) M151K possibly damaging Het
Spc24 AGAGGTAGTCACTGA AGA 9: 21,667,511 (GRCm39) probably null Het
Speer3 T A 5: 13,845,445 (GRCm39) N159K probably damaging Het
Spire1 A C 18: 67,624,417 (GRCm39) S581A probably damaging Het
Susd6 C T 12: 80,921,234 (GRCm39) T277I probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Other mutations in Ppib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Ppib APN 9 65,972,879 (GRCm39) missense probably damaging 1.00
R0395:Ppib UTSW 9 65,973,601 (GRCm39) missense possibly damaging 0.47
R1759:Ppib UTSW 9 65,968,764 (GRCm39) nonsense probably null
R4941:Ppib UTSW 9 65,967,672 (GRCm39) missense probably benign 0.10
R5103:Ppib UTSW 9 65,968,747 (GRCm39) critical splice acceptor site probably null
R6358:Ppib UTSW 9 65,968,756 (GRCm39) missense probably damaging 1.00
R8038:Ppib UTSW 9 65,967,615 (GRCm39) missense probably benign 0.02
R8330:Ppib UTSW 9 65,968,755 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGACCTGGCTGAGTTTGTCC -3'
(R):5'- TGACTGGCTACCTTCGTCTG -3'

Sequencing Primer
(F):5'- CTGAGTTTGTCCGGCTGC -3'
(R):5'- GTGTGGGGATTGACAGGACCC -3'
Posted On 2015-02-05