Incidental Mutation 'IGL00767:Ptcd3'
ID13206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptcd3
Ensembl Gene ENSMUSG00000063884
Gene Namepentatricopeptide repeat domain 3
Synonyms2610034F17Rik, 2810422B04Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00767
Quality Score
Status
Chromosome6
Chromosomal Location71880638-71908750 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 71903448 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 97 (I97K)
Ref Sequence ENSEMBL: ENSMUSP00000080743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082094] [ENSMUST00000206879]
Predicted Effect probably damaging
Transcript: ENSMUST00000082094
AA Change: I97K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: I97K

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
low complexity region 216 227 N/A INTRINSIC
Pfam:PPR_2 253 300 1.4e-10 PFAM
Pfam:PPR_3 331 366 2.1e-4 PFAM
low complexity region 671 684 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205761
Predicted Effect probably benign
Transcript: ENSMUST00000206284
Predicted Effect possibly damaging
Transcript: ENSMUST00000206879
AA Change: I97K

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,334,750 probably benign Het
Anpep A C 7: 79,840,890 S293A probably benign Het
Dgkh T A 14: 78,587,261 probably benign Het
Dlg5 T A 14: 24,165,285 T657S probably damaging Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Il12rb2 T C 6: 67,303,562 I554V possibly damaging Het
Mindy2 A G 9: 70,634,003 probably null Het
Nostrin A G 2: 69,175,775 T268A probably benign Het
Npy6r A G 18: 44,276,318 T269A probably benign Het
Nt5dc3 T A 10: 86,820,273 probably benign Het
Osgin2 G A 4: 16,006,377 H106Y probably damaging Het
Pdlim3 G A 8: 45,896,790 G46R probably damaging Het
Pdpk1 T G 17: 24,106,861 K147N possibly damaging Het
Pfkfb3 T C 2: 11,488,754 D137G probably damaging Het
Polg G A 7: 79,451,925 P1048S probably damaging Het
Serpinb10 G T 1: 107,536,077 V30F possibly damaging Het
Stk17b A G 1: 53,764,023 probably benign Het
Tll1 G A 8: 64,071,321 R444C probably damaging Het
Ttbk2 A G 2: 120,745,745 V848A probably benign Het
Ttn T C 2: 76,885,673 probably benign Het
Other mutations in Ptcd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Ptcd3 APN 6 71907844 missense possibly damaging 0.93
IGL01545:Ptcd3 APN 6 71888577 missense probably benign 0.01
IGL01924:Ptcd3 APN 6 71898427 missense probably damaging 1.00
IGL02675:Ptcd3 APN 6 71883442 critical splice donor site probably null
R0732:Ptcd3 UTSW 6 71881171 unclassified probably benign
R1374:Ptcd3 UTSW 6 71908653 nonsense probably null
R1393:Ptcd3 UTSW 6 71889621 missense probably benign 0.00
R1498:Ptcd3 UTSW 6 71893495 missense probably damaging 1.00
R1646:Ptcd3 UTSW 6 71898395 missense probably benign 0.26
R1712:Ptcd3 UTSW 6 71908653 nonsense probably null
R2022:Ptcd3 UTSW 6 71885553 missense probably damaging 1.00
R2248:Ptcd3 UTSW 6 71894285 critical splice donor site probably null
R2406:Ptcd3 UTSW 6 71888647 missense probably damaging 1.00
R3418:Ptcd3 UTSW 6 71883486 missense possibly damaging 0.93
R3419:Ptcd3 UTSW 6 71883486 missense possibly damaging 0.93
R4677:Ptcd3 UTSW 6 71893514 missense probably benign 0.17
R4741:Ptcd3 UTSW 6 71902949 missense probably damaging 1.00
R4752:Ptcd3 UTSW 6 71901312 missense probably damaging 0.99
R5441:Ptcd3 UTSW 6 71881521 missense possibly damaging 0.62
R5583:Ptcd3 UTSW 6 71902936 missense probably damaging 1.00
R5681:Ptcd3 UTSW 6 71907659 missense probably damaging 1.00
R6028:Ptcd3 UTSW 6 71898408 missense probably damaging 1.00
R6324:Ptcd3 UTSW 6 71885327 missense probably benign 0.00
R6537:Ptcd3 UTSW 6 71897110 splice site probably null
R6600:Ptcd3 UTSW 6 71883546 missense probably damaging 1.00
R6783:Ptcd3 UTSW 6 71908643 missense probably benign 0.00
R6810:Ptcd3 UTSW 6 71885532 missense probably damaging 0.99
R6860:Ptcd3 UTSW 6 71897110 splice site probably null
R6993:Ptcd3 UTSW 6 71885315 missense probably damaging 1.00
R7578:Ptcd3 UTSW 6 71908707 missense probably benign
R7788:Ptcd3 UTSW 6 71885557 missense probably benign 0.00
R7851:Ptcd3 UTSW 6 71902859 missense probably damaging 1.00
R7888:Ptcd3 UTSW 6 71883447 missense probably damaging 1.00
R7889:Ptcd3 UTSW 6 71888608 missense probably damaging 1.00
R7919:Ptcd3 UTSW 6 71903454 missense probably damaging 1.00
R8162:Ptcd3 UTSW 6 71907814 missense probably benign 0.02
R8351:Ptcd3 UTSW 6 71908641 missense probably benign 0.00
R8451:Ptcd3 UTSW 6 71908641 missense probably benign 0.00
X0024:Ptcd3 UTSW 6 71901274 missense probably damaging 1.00
X0065:Ptcd3 UTSW 6 71907806 missense probably benign 0.00
Posted On2012-12-06