Incidental Mutation 'R1625:Ppih'
ID 174950
Institutional Source Beutler Lab
Gene Symbol Ppih
Ensembl Gene ENSMUSG00000060288
Gene Name peptidyl prolyl isomerase H
Synonyms D4Wsu43e, 4833408F11Rik, rotamase H, 2010111B15Rik, cyclophilin H, 1100001J08Rik, CYP-20
MMRRC Submission 039662-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # R1625 (G1)
Quality Score 172
Status Not validated
Chromosome 4
Chromosomal Location 119157207-119177720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119175779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 69 (I69V)
Ref Sequence ENSEMBL: ENSMUSP00000101926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056458] [ENSMUST00000106317] [ENSMUST00000106318] [ENSMUST00000106319] [ENSMUST00000106321] [ENSMUST00000147077]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056458
AA Change: I69V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051221
Gene: ENSMUSG00000060288
AA Change: I69V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 176 5.8e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106317
AA Change: I69V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101924
Gene: ENSMUSG00000060288
AA Change: I69V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 170 2.4e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106318
AA Change: I69V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101925
Gene: ENSMUSG00000060288
AA Change: I69V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 176 5.8e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106319
AA Change: I69V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101926
Gene: ENSMUSG00000060288
AA Change: I69V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 132 8.3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106321
AA Change: I69V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101928
Gene: ENSMUSG00000060288
AA Change: I69V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 176 5.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147077
AA Change: I50V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000118407
Gene: ENSMUSG00000060288
AA Change: I50V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 2 157 2.9e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154606
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
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 member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,857,947 (GRCm39) M605L probably benign Het
Abcc5 A T 16: 20,184,567 (GRCm39) S1031T probably damaging Het
Acot7 T A 4: 152,270,748 (GRCm39) C31S probably benign Het
Acss3 A T 10: 106,773,263 (GRCm39) probably null Het
Adipor1 T C 1: 134,351,802 (GRCm39) F83S possibly damaging Het
Agrn G A 4: 156,257,317 (GRCm39) S1171L probably damaging Het
Aoc1l1 T A 6: 48,952,105 (GRCm39) L10Q probably damaging Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Arid4b T A 13: 14,361,699 (GRCm39) V721D probably damaging Het
Aspm G A 1: 139,408,777 (GRCm39) A2555T probably benign Het
Atp6v0a1 T A 11: 100,946,380 (GRCm39) L791Q probably damaging Het
Car11 A G 7: 45,350,731 (GRCm39) K76E probably benign Het
Casp8ap2 T A 4: 32,648,068 (GRCm39) M1925K probably benign Het
Cc2d1a A T 8: 84,866,001 (GRCm39) L418Q probably damaging Het
Ccl9 G A 11: 83,466,736 (GRCm39) R64W probably damaging Het
Cfap20dc A G 14: 8,431,668 (GRCm38) Y655H probably damaging Het
Cfap43 T A 19: 47,739,527 (GRCm39) K1325N probably damaging Het
Dars2 G A 1: 160,881,614 (GRCm39) P305L possibly damaging Het
Ddx11 C T 17: 66,457,692 (GRCm39) T859I probably benign Het
Dock7 C T 4: 98,850,433 (GRCm39) probably null Het
Efcab6 A G 15: 83,831,839 (GRCm39) V570A probably benign Het
Fermt1 T A 2: 132,764,751 (GRCm39) I369F probably damaging Het
Fras1 A G 5: 96,861,849 (GRCm39) Y2161C probably damaging Het
Fras1 C A 5: 96,857,837 (GRCm39) P2044T possibly damaging Het
Gucy1a1 T C 3: 82,009,362 (GRCm39) I549V probably benign Het
Hspg2 G A 4: 137,246,282 (GRCm39) S1020N probably benign Het
Kif21a A G 15: 90,826,378 (GRCm39) S1360P probably damaging Het
Lrp3 T C 7: 34,903,350 (GRCm39) Y332C probably damaging Het
Ltc4s C A 11: 50,128,215 (GRCm39) A32S possibly damaging Het
Mgrn1 T C 16: 4,728,627 (GRCm39) L84P probably damaging Het
Muc2 C G 7: 141,283,405 (GRCm39) C672W probably damaging Het
Mvp A T 7: 126,600,845 (GRCm39) V52E probably damaging Het
Ndrg2 T C 14: 52,144,420 (GRCm39) T269A probably damaging Het
Notch2 T A 3: 98,018,891 (GRCm39) D684E probably damaging Het
Nup205 A G 6: 35,168,878 (GRCm39) D316G probably benign Het
Or12e7 T A 2: 87,288,016 (GRCm39) I169K probably damaging Het
Or2v2 T C 11: 49,004,071 (GRCm39) M161V probably benign Het
Or7d11 A G 9: 19,966,678 (GRCm39) L27P probably damaging Het
Pcsk1 A T 13: 75,274,971 (GRCm39) D520V probably benign Het
Pik3cg A T 12: 32,244,741 (GRCm39) D904E probably damaging Het
Pitpnm2 T A 5: 124,271,496 (GRCm39) D359V probably benign Het
Rab11fip3 T C 17: 26,287,865 (GRCm39) E96G possibly damaging Het
Retreg3 C A 11: 100,992,875 (GRCm39) M1I probably null Het
Rfpl4 C T 7: 5,118,409 (GRCm39) V54I possibly damaging Het
Rif1 T C 2: 51,993,652 (GRCm39) I855T probably benign Het
Rrm1 T A 7: 102,117,554 (GRCm39) I748N probably damaging Het
Sap130 T A 18: 31,807,517 (GRCm39) N441K probably damaging Het
Sf3b1 T A 1: 55,058,536 (GRCm39) I18F probably damaging Het
Skor2 A G 18: 76,946,499 (GRCm39) N74D unknown Het
Slc17a6 C A 7: 51,311,208 (GRCm39) F307L probably benign Het
Slc25a13 G A 6: 6,096,675 (GRCm39) L410F probably damaging Het
Slc47a1 A T 11: 61,262,625 (GRCm39) V38E probably damaging Het
Slc8a1 T A 17: 81,956,670 (GRCm39) T123S probably damaging Het
Slc9a5 C A 8: 106,094,755 (GRCm39) T782K possibly damaging Het
Spmip7 C A 11: 11,438,644 (GRCm39) probably benign Het
Sppl2c C A 11: 104,077,995 (GRCm39) T265K probably damaging Het
Srfbp1 A G 18: 52,621,788 (GRCm39) K283R probably benign Het
Ssr1 C T 13: 38,173,479 (GRCm39) probably null Het
Stard3nl T C 13: 19,556,754 (GRCm39) probably null Het
Timeless G T 10: 128,076,493 (GRCm39) S134I probably damaging Het
Tll1 A G 8: 64,494,476 (GRCm39) F760L probably damaging Het
Tspear A G 10: 77,706,333 (GRCm39) I368V probably benign Het
Txnrd2 G T 16: 18,257,116 (GRCm39) W144L probably damaging Het
Unc5d T C 8: 29,173,234 (GRCm39) E668G probably damaging Het
Urb1 C T 16: 90,570,936 (GRCm39) probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vmn1r66 G T 7: 10,008,316 (GRCm39) T239K probably benign Het
Vps39 C T 2: 120,154,106 (GRCm39) V630M probably damaging Het
Wrn T C 8: 33,819,158 (GRCm39) T22A probably benign Het
Zfp7 T A 15: 76,765,374 (GRCm39) D22E probably damaging Het
Other mutations in Ppih
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02006:Ppih APN 4 119,168,779 (GRCm39) splice site probably benign
R0005:Ppih UTSW 4 119,175,798 (GRCm39) splice site probably benign
R4493:Ppih UTSW 4 119,168,042 (GRCm39) missense probably damaging 0.99
R4539:Ppih UTSW 4 119,177,656 (GRCm39) missense probably benign 0.31
R7883:Ppih UTSW 4 119,167,987 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGTCAGTGGTAGCCAGCAACTC -3'
(R):5'- TCTTCAAGGAAGGCTAAGCAAAGCG -3'

Sequencing Primer
(F):5'- GTGGTAGCCAGCAACTCTACAG -3'
(R):5'- TGCGAACTCACGCATCTAAG -3'
Posted On 2014-04-24