Incidental Mutation 'R8757:Ppihl'
ID 671680
Institutional Source Beutler Lab
Gene Symbol Ppihl
Ensembl Gene ENSMUSG00000033036
Gene Name peptidyl prolyl isomerase H like
Synonyms Gm7879
MMRRC Submission 068621-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8757 (G1)
Quality Score 225.009
Status 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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,697,112 (GRCm39) V237A probably benign Het
Abca15 G A 7: 120,006,631 (GRCm39) V1632M probably damaging Het
Adam20 A T 8: 41,248,943 (GRCm39) H351L probably benign Het
Ak9 T C 10: 41,299,036 (GRCm39) V1579A unknown Het
Apol7e T C 15: 77,602,065 (GRCm39) V221A probably benign Het
Arid5b T C 10: 67,933,640 (GRCm39) H754R probably damaging Het
Atp6v0d2 T A 4: 19,910,649 (GRCm39) R80S probably benign 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
Cnot7 A G 8: 40,947,080 (GRCm39) V269A probably benign Het
Cntn1 T G 15: 92,153,801 (GRCm39) F485V possibly damaging Het
Copa A G 1: 171,947,081 (GRCm39) I1068M probably benign Het
Dchs2 G A 3: 83,261,567 (GRCm39) V2612M possibly damaging 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
Epn3 C A 11: 94,386,848 (GRCm39) G174V possibly damaging Het
Evx2 C T 2: 74,486,226 (GRCm39) A388T probably benign Het
Fancd2 T C 6: 113,537,054 (GRCm39) M553T 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
Gm19410 A T 8: 36,276,119 (GRCm39) Q1592L possibly damaging Het
Gm4792 T A 10: 94,131,049 (GRCm39) T87S unknown Het
Gm8947 C A 1: 151,068,809 (GRCm39) T214K probably benign Het
H6pd C T 4: 150,066,758 (GRCm39) V551I probably benign Het
Hace1 T A 10: 45,546,539 (GRCm39) I391N possibly damaging Het
Heyl C T 4: 123,127,666 (GRCm39) R3W probably damaging Het
Htr4 T A 18: 62,545,335 (GRCm39) V40E probably damaging Het
Ighg1 A T 12: 113,292,657 (GRCm39) L304* probably null Het
Igkv1-135 T A 6: 67,587,470 (GRCm39) W114R possibly damaging Het
Itga8 T C 2: 12,266,940 (GRCm39) D165G probably damaging Het
Kmt2a A T 9: 44,754,210 (GRCm39) V1210E unknown Het
Lipt2 GGCGCCCGCGCGCG GGCG 7: 99,808,888 (GRCm39) probably null Het
Lrrc37a A G 11: 103,348,766 (GRCm39) V2643A unknown Het
Map4k5 A G 12: 69,897,598 (GRCm39) probably benign Het
Mecom A T 3: 30,292,268 (GRCm39) D14E Het
Myo3a G T 2: 22,448,319 (GRCm39) K969N possibly damaging Het
Nat3 T C 8: 68,000,202 (GRCm39) I27T probably damaging Het
Nr1d1 G C 11: 98,660,073 (GRCm39) R484G probably damaging Het
Nr2c1 T C 10: 94,031,119 (GRCm39) L560P probably damaging Het
Or52e8 T C 7: 104,624,325 (GRCm39) N293S probably damaging Het
Pik3cg T C 12: 32,255,006 (GRCm39) D327G 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
Ptprz1 C A 6: 22,972,716 (GRCm39) Q209K possibly 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
Ror1 T A 4: 100,298,080 (GRCm39) F484L probably benign 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
Sf3a2 T A 10: 80,640,138 (GRCm39) H316Q unknown Het
Slc18b1 T C 10: 23,692,198 (GRCm39) silent Het
Sp100 T C 1: 85,590,285 (GRCm39) V93A possibly damaging Het
Spta1 C T 1: 174,040,940 (GRCm39) L1247F probably damaging Het
Syne1 T A 10: 5,144,618 (GRCm39) N21I probably damaging Het
Tbck G T 3: 132,392,587 (GRCm39) M9I 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
Ttf2 A G 3: 100,857,648 (GRCm39) L759P probably damaging Het
Ubqlnl T A 7: 103,799,206 (GRCm39) H97L probably damaging Het
Zfp800 T C 6: 28,244,270 (GRCm39) I232V probably benign Het
Zfp831 A G 2: 174,487,874 (GRCm39) T850A probably benign Het
Zpld2 T C 4: 133,930,282 (GRCm39) T8A unknown Het
Other mutations in Ppihl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6373:Ppihl UTSW 5 44,070,893 (GRCm39) missense probably damaging 0.98
R8759:Ppihl UTSW 5 44,070,999 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TTTACCGGGGTCCATTTGC -3'
(R):5'- ATTTGTGATACTTCCAGGTCCTG -3'

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