Incidental Mutation 'R8759:Ppihl'
ID 671779
Institutional Source Beutler Lab
Gene Symbol Ppihl
Ensembl Gene ENSMUSG00000033036
Gene Name peptidyl prolyl isomerase H like
Synonyms Gm7879
MMRRC Submission 068718-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 44070486-44071246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44070999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 119 (N119I)
Ref Sequence ENSEMBL: ENSMUSP00000142776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030964] [ENSMUST00000122204] [ENSMUST00000200338]
AlphaFold Q9D868
Predicted Effect probably benign
Transcript: ENSMUST00000030964
SMART Domains Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:Rib_hydrolayse 59 300 2.9e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122204
AA Change: N162I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000142767
Gene: ENSMUSG00000033036
AA Change: N162I

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 176 5.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200338
AA Change: N119I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142776
Gene: ENSMUSG00000033036
AA Change: N119I

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 132 8.3e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,365,916 (GRCm39) T276A probably benign Het
6030468B19Rik T C 11: 117,697,112 (GRCm39) V237A probably benign Het
Abca15 G A 7: 120,006,631 (GRCm39) V1632M probably damaging Het
Adamts18 G A 8: 114,433,624 (GRCm39) P1037S probably damaging Het
Apol7e T C 15: 77,602,065 (GRCm39) V221A probably benign Het
Aqp4 T G 18: 15,533,048 (GRCm39) H15P probably benign Het
Atp6v0d2 T A 4: 19,910,649 (GRCm39) R80S probably benign Het
Cdh15 A G 8: 123,587,628 (GRCm39) D184G probably damaging Het
Cers3 G A 7: 66,435,850 (GRCm39) V270M probably damaging Het
Ces3a A G 8: 105,784,129 (GRCm39) H443R probably damaging Het
Cntn1 T G 15: 92,153,801 (GRCm39) F485V possibly damaging Het
Cog6 A G 3: 52,897,465 (GRCm39) L536P probably damaging Het
Copa A G 1: 171,947,081 (GRCm39) I1068M probably benign Het
Ddx50 T C 10: 62,452,021 (GRCm39) D734G unknown Het
Dgkz T C 2: 91,775,922 (GRCm39) T114A probably benign Het
Dock2 A T 11: 34,586,067 (GRCm39) D538E probably benign Het
Drg1 T C 11: 3,204,633 (GRCm39) S198G probably benign Het
Epn3 C A 11: 94,386,848 (GRCm39) G174V possibly damaging Het
Ficd G T 5: 113,876,575 (GRCm39) R250L probably damaging Het
Fmo2 A G 1: 162,708,005 (GRCm39) S377P probably benign Het
Gm17027 T C 14: 41,981,251 (GRCm39) I202V Het
H6pd C T 4: 150,066,758 (GRCm39) V551I probably benign Het
Ighg1 A T 12: 113,292,657 (GRCm39) L304* probably null Het
Itga8 T C 2: 12,266,940 (GRCm39) D165G probably damaging Het
Lipt2 GGCGCCCGCGCGCG GGCG 7: 99,808,888 (GRCm39) probably null Het
Lrrc37a A G 11: 103,348,766 (GRCm39) V2643A unknown Het
Lyz3 T A 10: 117,070,340 (GRCm39) I146F probably damaging Het
Mast2 A T 4: 116,292,757 (GRCm39) F71Y possibly damaging Het
Mkrn1 C A 6: 39,376,344 (GRCm39) E421* probably null Het
Myo3a G T 2: 22,448,319 (GRCm39) K969N possibly damaging Het
Nr1d1 G C 11: 98,660,073 (GRCm39) R484G probably damaging Het
Nrg1 C A 8: 32,308,103 (GRCm39) A686S probably damaging Het
Or52e8 T C 7: 104,624,325 (GRCm39) N293S probably damaging Het
Plxna4 T A 6: 32,169,276 (GRCm39) D1307V probably damaging Het
Ppp1r13l G T 7: 19,103,981 (GRCm39) G154V probably damaging Het
Psmc5 A G 11: 106,153,687 (GRCm39) D382G probably benign Het
Ptch2 T C 4: 116,967,630 (GRCm39) L766P probably damaging Het
Rev1 A C 1: 38,098,353 (GRCm39) L730R probably damaging Het
Rin3 G A 12: 102,339,861 (GRCm39) V684I probably damaging Het
Secisbp2 G A 13: 51,833,869 (GRCm39) V670I possibly damaging Het
Sema6d G A 2: 124,497,134 (GRCm39) C136Y probably damaging Het
Shprh T G 10: 11,032,908 (GRCm39) V298G possibly damaging Het
Slc37a4 C T 9: 44,313,632 (GRCm39) T386I probably benign Het
Slc4a3 T C 1: 75,531,282 (GRCm39) I825T probably damaging Het
Spta1 C T 1: 174,040,940 (GRCm39) L1247F probably damaging Het
Tigar A T 6: 127,068,220 (GRCm39) I66K probably benign Het
Tln2 T C 9: 67,274,500 (GRCm39) Y376C probably damaging Het
Tmem199 T A 11: 78,398,633 (GRCm39) probably benign Het
Tnc G A 4: 63,924,501 (GRCm39) R1066C possibly damaging Het
Ubqlnl T A 7: 103,799,206 (GRCm39) H97L probably damaging Het
Vmn1r13 A G 6: 57,187,524 (GRCm39) T228A probably damaging Het
Xab2 T C 8: 3,661,672 (GRCm39) T594A probably benign Het
Zc3h18 A G 8: 123,138,124 (GRCm39) E687G unknown Het
Zfp831 A G 2: 174,487,874 (GRCm39) T850A probably benign Het
Other mutations in Ppihl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6373:Ppihl UTSW 5 44,070,893 (GRCm39) missense probably damaging 0.98
R8757:Ppihl UTSW 5 44,070,999 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATTTACCGGGGTCCATTTGCG -3'
(R):5'- TTGTGATACTTCCAGGTCCTG -3'

Sequencing Primer
(F):5'- TTAAACTTAGACACTCTGCTCCAGG -3'
(R):5'- CTGGATCGCATACTGTGGAGAC -3'
Posted On 2021-04-30