Incidental Mutation 'IGL01819:Ptcd2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptcd2
Ensembl Gene ENSMUSG00000021650
Gene Namepentatricopeptide repeat domain 2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #IGL01819
Quality Score
Chromosomal Location99319647-99344705 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99326711 bp
Amino Acid Change Asparagine to Serine at position 245 (N245S)
Ref Sequence ENSEMBL: ENSMUSP00000022153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022153]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022153
AA Change: N245S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022153
Gene: ENSMUSG00000021650
AA Change: N245S

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Adora2b A G 11: 62,265,184 N153S possibly damaging Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Elovl7 T G 13: 108,274,320 V143G probably damaging Het
Fhl4 T C 10: 85,098,870 K16E probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Mrps2 T C 2: 28,468,336 V46A probably benign Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1129 A G 2: 87,575,479 I132V probably damaging Het
Olfr1285 T A 2: 111,408,733 V106E probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Phf11c T C 14: 59,393,137 T40A probably benign Het
Pih1d2 T A 9: 50,621,877 S268R probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Sphk2 A G 7: 45,711,056 probably null Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Ptcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Ptcd2 APN 13 99330065 missense probably benign 0.11
IGL01537:Ptcd2 APN 13 99330013 missense possibly damaging 0.95
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
Posted On2014-02-04