Incidental Mutation 'R6373:Ppihl'
ID 513623
Institutional Source Beutler Lab
Gene Symbol Ppihl
Ensembl Gene ENSMUSG00000033036
Gene Name peptidyl prolyl isomerase H like
Synonyms Gm7879
MMRRC Submission 044523-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6373 (G1)
Quality Score 86.0076
Status Not validated
Chromosome 5
Chromosomal Location 44070486-44071246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44070893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 127 (T127A)
Ref Sequence ENSEMBL: ENSMUSP00000142767 (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 damaging
Transcript: ENSMUST00000122204
AA Change: T127A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142767
Gene: ENSMUSG00000033036
AA Change: T127A

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 176 5.8e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177915
Predicted Effect probably benign
Transcript: ENSMUST00000200338
SMART Domains Protein: ENSMUSP00000142776
Gene: ENSMUSG00000033036

DomainStartEndE-ValueType
Pfam:Pro_isomerase 14 132 8.3e-26 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 95% (37/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,038,240 (GRCm39) L279P probably damaging Het
Aldh16a1 C G 7: 44,795,695 (GRCm39) V373L probably benign Het
Btn2a2 T C 13: 23,665,999 (GRCm39) K278E probably benign Het
Carns1 G T 19: 4,216,515 (GRCm39) Q556K probably benign Het
Chd1 A T 17: 15,958,898 (GRCm39) E650V probably damaging Het
Cobl A G 11: 12,203,118 (GRCm39) S1195P probably damaging Het
Deup1 T C 9: 15,472,638 (GRCm39) H464R probably damaging Het
Eva1a T C 6: 82,068,847 (GRCm39) L58S probably damaging Het
Fign A C 2: 63,809,989 (GRCm39) M427R probably benign Het
Gm6309 A T 5: 146,107,085 (GRCm39) I87N probably damaging Het
H2ac7 A G 13: 23,759,027 (GRCm39) K128R probably benign Het
Helz A G 11: 107,486,010 (GRCm39) T140A probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Kif16b A T 2: 142,541,618 (GRCm39) H1227Q possibly damaging Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mex3c T C 18: 73,723,065 (GRCm39) M386T probably benign Het
Myh11 T A 16: 14,022,994 (GRCm39) I1644F possibly damaging Het
Nav2 C T 7: 49,102,923 (GRCm39) P513S probably damaging Het
Ncoa3 C T 2: 165,901,267 (GRCm39) S953F possibly damaging Het
Nmt2 A G 2: 3,325,988 (GRCm39) T462A probably benign Het
Nrxn2 T C 19: 6,559,860 (GRCm39) I163T probably damaging Het
Nrxn3 G C 12: 89,943,237 (GRCm39) G122R probably damaging Het
Or1e26 A G 11: 73,479,724 (GRCm39) V280A probably benign Het
Or5d20-ps1 T C 2: 87,932,189 (GRCm39) I47M possibly damaging Het
Parg T G 14: 31,931,454 (GRCm39) probably null Het
Pcdhb7 T A 18: 37,475,264 (GRCm39) C133* probably null Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Rpe T C 1: 66,755,139 (GRCm39) F174L probably benign Het
Rxrb A G 17: 34,252,533 (GRCm39) N40S probably benign Het
Ryr3 C A 2: 112,486,889 (GRCm39) G3840W probably damaging Het
Smurf2 A G 11: 106,724,595 (GRCm39) L529P probably damaging Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Spata20 A G 11: 94,374,226 (GRCm39) V348A probably benign Het
Spink5 A G 18: 44,123,739 (GRCm39) E342G probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Syce1l T A 8: 114,376,143 (GRCm39) M31K probably benign Het
Ttn C T 2: 76,618,960 (GRCm39) V14394I probably damaging Het
Twnk G A 19: 44,997,820 (GRCm39) V450M probably damaging Het
Vangl1 T C 3: 102,065,764 (GRCm39) K407R probably benign Het
Vmn1r19 T C 6: 57,382,317 (GRCm39) I290T unknown Het
Other mutations in Ppihl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R8757:Ppihl UTSW 5 44,070,999 (GRCm39) missense probably benign 0.02
R8759:Ppihl UTSW 5 44,070,999 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCAGAAAAGATGGCGTTCCG -3'
(R):5'- GAGGACCTAGTTCCGTCTTG -3'

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