Incidental Mutation 'IGL00236:Ptcd2'
ID 2159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptcd2
Ensembl Gene ENSMUSG00000021650
Gene Name pentatricopeptide repeat domain 2
Synonyms 1190005P08Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # IGL00236
Quality Score
Status
Chromosome 13
Chromosomal Location 99456157-99481215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99466573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 207 (N207D)
Ref Sequence ENSEMBL: ENSMUSP00000022153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022153]
AlphaFold Q8R3K3
Predicted Effect probably benign
Transcript: ENSMUST00000022153
AA Change: N207D

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022153
Gene: ENSMUSG00000021650
AA Change: N207D

DomainStartEndE-ValueType
Pfam:MRP-S27 20 228 1.2e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal mitochondrial morphology and physiology, especially in the heart, liver, skeletal muscle and kidney. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,490,467 (GRCm39) V43A probably damaging Het
Ankrd17 A T 5: 90,381,787 (GRCm39) S2460T probably damaging Het
Ap4e1 T C 2: 126,870,201 (GRCm39) L176P probably damaging Het
Caprin2 A G 6: 148,744,569 (GRCm39) I952T probably damaging Het
Cdkl4 A T 17: 80,832,705 (GRCm39) probably benign Het
Cfap44 T C 16: 44,227,767 (GRCm39) L156P probably damaging Het
Dock9 A G 14: 121,905,880 (GRCm39) L90S probably benign Het
Efhb T C 17: 53,769,481 (GRCm39) D276G probably damaging Het
Ep300 A G 15: 81,525,619 (GRCm39) D1481G unknown Het
Fam83b T C 9: 76,398,260 (GRCm39) I948V probably benign Het
Fbxl5 G T 5: 43,922,678 (GRCm39) H247N probably damaging Het
Fn1 A G 1: 71,692,032 (GRCm39) I37T probably benign Het
Hfe C T 13: 23,889,835 (GRCm39) probably benign Het
Ighv1-36 A T 12: 114,843,770 (GRCm39) L29Q possibly damaging Het
Inpp5e G T 2: 26,298,533 (GRCm39) Q23K probably benign Het
L3mbtl1 T C 2: 162,808,983 (GRCm39) S619P probably damaging Het
Myh8 T C 11: 67,174,644 (GRCm39) I253T probably damaging Het
Ntrk1 C T 3: 87,698,745 (GRCm39) V99M possibly damaging Het
Or51s1 T C 7: 102,558,479 (GRCm39) H189R probably damaging Het
Or5b124 A T 19: 13,610,903 (GRCm39) I143F probably benign Het
Pard6a T C 8: 106,429,446 (GRCm39) S135P probably damaging Het
Prss43 G T 9: 110,658,538 (GRCm39) Q279H probably benign Het
Ros1 T C 10: 52,070,986 (GRCm39) I23V probably benign Het
Scg5 A G 2: 113,657,915 (GRCm39) probably benign Het
Sh3bp5 T A 14: 31,101,347 (GRCm39) K212* probably null Het
Slc25a30 C T 14: 76,004,365 (GRCm39) G244D possibly damaging Het
Slc38a10 T C 11: 119,997,428 (GRCm39) R689G probably damaging Het
Spatc1 A G 15: 76,168,994 (GRCm39) D321G probably damaging Het
Stat4 A T 1: 52,142,037 (GRCm39) Y628F probably damaging Het
Wdr35 G A 12: 9,069,900 (GRCm39) V813I probably benign Het
Other mutations in Ptcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Ptcd2 APN 13 99,466,521 (GRCm39) missense possibly damaging 0.95
IGL01819:Ptcd2 APN 13 99,463,219 (GRCm39) missense possibly damaging 0.78
IGL03368:Ptcd2 APN 13 99,466,577 (GRCm39) splice site probably benign
PIT4431001:Ptcd2 UTSW 13 99,476,527 (GRCm39) nonsense probably null
R0276:Ptcd2 UTSW 13 99,458,104 (GRCm39) missense probably benign 0.16
R0411:Ptcd2 UTSW 13 99,479,899 (GRCm39) missense probably damaging 1.00
R1381:Ptcd2 UTSW 13 99,481,105 (GRCm39) missense probably benign 0.01
R2007:Ptcd2 UTSW 13 99,456,744 (GRCm39) missense probably damaging 0.99
R4059:Ptcd2 UTSW 13 99,481,084 (GRCm39) missense probably damaging 0.99
R4094:Ptcd2 UTSW 13 99,468,957 (GRCm39) missense probably damaging 0.99
R7594:Ptcd2 UTSW 13 99,456,790 (GRCm39) missense possibly damaging 0.81
R7616:Ptcd2 UTSW 13 99,481,207 (GRCm39) unclassified probably benign
R8547:Ptcd2 UTSW 13 99,469,462 (GRCm39) missense probably damaging 1.00
R8928:Ptcd2 UTSW 13 99,476,505 (GRCm39) missense probably damaging 0.97
Posted On 2011-12-09