Incidental Mutation 'R6358:Ppib'
ID 513342
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 044508-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.479) question?
Stock # R6358 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 65967504-65973905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 65968756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 48 (F48C)
Ref Sequence ENSEMBL: ENSMUSP00000034947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034947] [ENSMUST00000044711]
AlphaFold P24369
Predicted Effect probably damaging
Transcript: ENSMUST00000034947
AA Change: F48C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034947
Gene: ENSMUSG00000032383
AA Change: F48C

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
Meta Mutation Damage Score 0.9675 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,279,718 (GRCm39) V703A probably benign Het
Adgrv1 T A 13: 81,562,702 (GRCm39) Q5389L probably damaging Het
Aldh18a1 A T 19: 40,566,122 (GRCm39) I42N possibly damaging Het
Ankrd28 A C 14: 31,432,821 (GRCm39) C575W probably damaging Het
Car14 T A 3: 95,805,487 (GRCm39) T329S possibly damaging Het
Cdhr2 T C 13: 54,884,359 (GRCm39) F1298S probably damaging Het
Crhr2 A G 6: 55,070,028 (GRCm39) I341T probably benign Het
D5Ertd579e T A 5: 36,773,580 (GRCm39) probably null Het
Eif1ad3 A G 12: 87,843,770 (GRCm39) E139G unknown Het
Emilin1 A G 5: 31,075,562 (GRCm39) E601G probably damaging Het
Erbin T A 13: 103,982,073 (GRCm39) Q456L probably damaging Het
Glp1r T C 17: 31,151,618 (GRCm39) V405A probably benign Het
Gm10220 C G 5: 26,325,303 (GRCm39) probably null Het
Gm527 A T 12: 64,970,322 (GRCm39) H219L possibly damaging Het
Gorasp2 T A 2: 70,503,104 (GRCm39) M1K probably null Het
H2-DMa T A 17: 34,356,958 (GRCm39) L152H probably damaging Het
Hsd3b7 T A 7: 127,400,709 (GRCm39) H54Q probably damaging Het
Hspa12b T C 2: 130,978,986 (GRCm39) probably benign Het
Iars1 C A 13: 49,880,619 (GRCm39) T1006K possibly damaging Het
Jmjd1c T C 10: 67,061,718 (GRCm39) V1357A probably benign Het
Magi3 T C 3: 103,958,268 (GRCm39) M606V probably damaging Het
Mia T C 7: 26,880,403 (GRCm39) D24G probably benign Het
Mon2 A T 10: 122,849,409 (GRCm39) L1297Q probably damaging Het
Musk T A 4: 58,373,171 (GRCm39) S691T possibly damaging Het
Myo5c A T 9: 75,203,294 (GRCm39) E1463D possibly damaging Het
Ndufs6 C T 13: 73,468,438 (GRCm39) G87D probably damaging Het
Npnt C T 3: 132,610,479 (GRCm39) V415I probably benign Het
Ntsr2 A G 12: 16,706,769 (GRCm39) I266V probably benign Het
Or11j4 A T 14: 50,630,845 (GRCm39) I211F possibly damaging Het
Or5aq7 T C 2: 86,938,778 (GRCm39) probably benign Het
Pkmyt1 T A 17: 23,952,630 (GRCm39) probably null Het
Polr1e T C 4: 45,026,813 (GRCm39) L166P probably damaging Het
Ppl C A 16: 4,905,793 (GRCm39) E1501* probably null Het
Prpf8 T C 11: 75,382,321 (GRCm39) V384A probably benign Het
Ptch1 T G 13: 63,661,503 (GRCm39) S1212R probably damaging Het
Ralb C A 1: 119,403,735 (GRCm39) D131Y probably damaging Het
Rfx4 T A 10: 84,680,099 (GRCm39) M141K probably damaging Het
Rgl2 T A 17: 34,156,105 (GRCm39) probably null Het
Rpl27 A G 11: 101,334,782 (GRCm39) probably benign Het
Sdc1 A C 12: 8,841,297 (GRCm39) T213P probably damaging Het
Setx T A 2: 29,061,360 (GRCm39) N2256K possibly damaging Het
Shank2 A G 7: 143,585,034 (GRCm39) M12V probably benign Het
Slc22a28 T A 19: 8,049,253 (GRCm39) K332M probably damaging Het
Slf2 A T 19: 44,923,864 (GRCm39) H226L probably benign Het
Tbc1d10b T C 7: 126,802,584 (GRCm39) S362G probably benign Het
Tbxas1 G A 6: 38,929,046 (GRCm39) probably benign Het
Tctn1 A G 5: 122,399,575 (GRCm39) V83A probably damaging Het
Tgm4 A G 9: 122,885,583 (GRCm39) E375G probably damaging Het
Tmeff2 T A 1: 51,172,273 (GRCm39) Y247* probably null Het
Tmem167b C T 3: 108,466,211 (GRCm39) R79H possibly damaging Het
Tmprss7 T G 16: 45,489,936 (GRCm39) M429L probably benign Het
Tnfsf18 T A 1: 161,331,148 (GRCm39) D99E probably benign Het
Tnrc18 A T 5: 142,713,736 (GRCm39) S2534T probably damaging Het
Tnxb A G 17: 34,897,968 (GRCm39) E872G probably damaging Het
Tomm40l C T 1: 171,047,206 (GRCm39) V237I possibly damaging Het
Trbv2 A G 6: 41,024,836 (GRCm39) Q84R probably benign Het
Tspan18 T C 2: 93,040,219 (GRCm39) R179G probably benign Het
Tspan8 G T 10: 115,669,132 (GRCm39) V56L probably benign Het
Zbtb22 T C 17: 34,137,711 (GRCm39) S619P probably damaging Het
Zfp2 A T 11: 50,791,428 (GRCm39) I205N probably damaging Het
Zfpm1 A G 8: 123,063,850 (GRCm39) 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
R3028:Ppib UTSW 9 65,973,589 (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
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'- GGGTTGGAGACTACTAGAGCTTTC -3'
(R):5'- TGTCTACCACTACACACGGG -3'

Sequencing Primer
(F):5'- AGATGGTTGTAGCCACCATC -3'
(R):5'- ACGGGCCACACTCTGAAG -3'
Posted On 2018-04-27