Incidental Mutation 'IGL00236:Ptcd2'
ID2159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptcd2
Ensembl Gene ENSMUSG00000021650
Gene Namepentatricopeptide repeat domain 2
Synonyms1190005P08Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.261) question?
Stock #IGL00236
Quality Score
Status
Chromosome13
Chromosomal Location99319647-99344705 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99330065 bp
ZygosityHeterozygous
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]
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: 87,443,697 V43A probably damaging Het
Ankrd17 A T 5: 90,233,928 S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 L176P probably damaging Het
Caprin2 A G 6: 148,843,071 I952T probably damaging Het
Cdkl4 A T 17: 80,525,276 probably benign Het
Cfap44 T C 16: 44,407,404 L156P probably damaging Het
Dock9 A G 14: 121,668,468 L90S probably benign Het
Efhb T C 17: 53,462,453 D276G probably damaging Het
Ep300 A G 15: 81,641,418 D1481G unknown Het
Fam83b T C 9: 76,490,978 I948V probably benign Het
Fbxl5 G T 5: 43,765,336 H247N probably damaging Het
Fn1 A G 1: 71,652,873 I37T probably benign Het
Hfe C T 13: 23,705,852 probably benign Het
Ighv1-36 A T 12: 114,880,150 L29Q possibly damaging Het
Inpp5e G T 2: 26,408,521 Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 S619P probably damaging Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 V99M possibly damaging Het
Olfr1489 A T 19: 13,633,539 I143F probably benign Het
Olfr571 T C 7: 102,909,272 H189R probably damaging Het
Pard6a T C 8: 105,702,814 S135P probably damaging Het
Prss43 G T 9: 110,829,470 Q279H probably benign Het
Ros1 T C 10: 52,194,890 I23V probably benign Het
Scg5 A G 2: 113,827,570 probably benign Het
Sh3bp5 T A 14: 31,379,390 K212* probably null Het
Slc25a30 C T 14: 75,766,925 G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 R689G probably damaging Het
Spatc1 A G 15: 76,284,794 D321G probably damaging Het
Stat4 A T 1: 52,102,878 Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 V813I probably benign Het
Other mutations in Ptcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Ptcd2 APN 13 99330013 missense possibly damaging 0.95
IGL01819:Ptcd2 APN 13 99326711 missense possibly damaging 0.78
IGL03368:Ptcd2 APN 13 99330069 splice site probably benign
PIT4431001:Ptcd2 UTSW 13 99340019 nonsense probably null
R0276:Ptcd2 UTSW 13 99321596 missense probably benign 0.16
R0411:Ptcd2 UTSW 13 99343391 missense probably damaging 1.00
R1381:Ptcd2 UTSW 13 99344597 missense probably benign 0.01
R2007:Ptcd2 UTSW 13 99320236 missense probably damaging 0.99
R4059:Ptcd2 UTSW 13 99344576 missense probably damaging 0.99
R4094:Ptcd2 UTSW 13 99332449 missense probably damaging 0.99
R7594:Ptcd2 UTSW 13 99320282 missense possibly damaging 0.81
R7616:Ptcd2 UTSW 13 99344699 unclassified probably benign
R8547:Ptcd2 UTSW 13 99332954 missense probably damaging 1.00
Posted On2011-12-09