Incidental Mutation 'R6324:Ptcd3'
ID 510652
Institutional Source Beutler Lab
Gene Symbol Ptcd3
Ensembl Gene ENSMUSG00000063884
Gene Name pentatricopeptide repeat domain 3
Synonyms 2610034F17Rik, 2810422B04Rik
MMRRC Submission 044478-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6324 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 71857622-71885734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71862311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 509 (V509I)
Ref Sequence ENSEMBL: ENSMUSP00000080743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082094] [ENSMUST00000206879]
AlphaFold Q14C51
Predicted Effect probably benign
Transcript: ENSMUST00000082094
AA Change: V509I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
AA Change: V509I

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: ENSMUST00000116815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205269
Predicted Effect probably benign
Transcript: ENSMUST00000205556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206762
Predicted Effect probably benign
Transcript: ENSMUST00000206879
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Atp13a3 A G 16: 30,151,103 (GRCm39) V1069A possibly damaging Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz2b A G 2: 59,737,292 (GRCm39) S1877P probably damaging Het
Ccdc27 A T 4: 154,120,648 (GRCm39) S383T probably benign Het
Cr1l A G 1: 194,793,430 (GRCm39) V377A probably benign Het
Dazap1 A G 10: 80,113,494 (GRCm39) E130G probably benign Het
Dchs1 G T 7: 105,414,145 (GRCm39) A890E probably benign Het
Dock10 G A 1: 80,482,893 (GRCm39) T2143I probably benign Het
Eif3j1 A G 2: 121,871,659 (GRCm39) D60G probably benign Het
Enah A G 1: 181,746,136 (GRCm39) S382P probably damaging Het
Fam171b A T 2: 83,709,608 (GRCm39) K427* probably null Het
Fmn2 A T 1: 174,440,119 (GRCm39) I1179L possibly damaging Het
Focad C T 4: 88,319,305 (GRCm39) R1505* probably null Het
Frem1 T C 4: 82,901,574 (GRCm39) T985A probably benign Het
Gm3404 A T 5: 146,464,917 (GRCm39) Q219L possibly damaging Het
Gm5592 A C 7: 40,935,959 (GRCm39) S154R probably damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Gpr158 A G 2: 21,815,365 (GRCm39) E586G probably damaging Het
Gstp2 A T 19: 4,090,499 (GRCm39) I162N probably benign Het
Lin7a T A 10: 107,216,076 (GRCm39) probably null Het
Loxl4 G A 19: 42,583,817 (GRCm39) L745F probably benign Het
Ms4a19 T A 19: 11,140,811 (GRCm39) M3L probably benign Het
Mybpc1 A G 10: 88,404,481 (GRCm39) I172T possibly damaging Het
Nalcn A G 14: 123,647,161 (GRCm39) W571R possibly damaging Het
Nkx2-5 G C 17: 27,060,095 (GRCm39) P79A probably benign Het
Nufip2 A G 11: 77,582,487 (GRCm39) T134A probably benign Het
Odad1 A G 7: 45,591,134 (GRCm39) E203G probably damaging Het
Or13p4 G A 4: 118,547,728 (GRCm39) probably benign Het
Or5al1 C T 2: 85,989,800 (GRCm39) V305I probably benign Het
Or5b109 A G 19: 13,212,468 (GRCm39) M285V possibly damaging Het
Phkb A G 8: 86,745,171 (GRCm39) D616G probably benign Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prl7b1 A T 13: 27,786,878 (GRCm39) probably null Het
Prop1 G A 11: 50,843,026 (GRCm39) P54S probably benign Het
Ptprg T A 14: 12,226,314 (GRCm38) D527E probably damaging Het
Rapgef2 C T 3: 78,986,439 (GRCm39) V1182I probably benign Het
Rfx7 C A 9: 72,525,696 (GRCm39) P962Q probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc38a9 A G 13: 112,862,634 (GRCm39) I444M probably benign Het
Sorbs1 T C 19: 40,310,263 (GRCm39) T492A probably damaging Het
Synj1 A T 16: 90,735,518 (GRCm39) S1478R probably benign Het
Tnn T A 1: 159,972,774 (GRCm39) N276I probably damaging Het
Trbv19 G A 6: 41,155,692 (GRCm39) G21D probably damaging Het
Ube2o A T 11: 116,430,185 (GRCm39) D1184E probably benign Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn2r108 A T 17: 20,691,977 (GRCm39) L182* probably null Het
Vmn2r15 A G 5: 109,434,137 (GRCm39) *856R probably null Het
Vmn2r70 G A 7: 85,208,087 (GRCm39) H797Y probably benign Het
Zfp11 C T 5: 129,733,587 (GRCm39) A625T possibly damaging Het
Other mutations in Ptcd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Ptcd3 APN 6 71,880,432 (GRCm39) missense probably damaging 0.96
IGL00903:Ptcd3 APN 6 71,884,828 (GRCm39) missense possibly damaging 0.93
IGL01545:Ptcd3 APN 6 71,865,561 (GRCm39) missense probably benign 0.01
IGL01924:Ptcd3 APN 6 71,875,411 (GRCm39) missense probably damaging 1.00
IGL02675:Ptcd3 APN 6 71,860,426 (GRCm39) critical splice donor site probably null
R0732:Ptcd3 UTSW 6 71,858,155 (GRCm39) unclassified probably benign
R1374:Ptcd3 UTSW 6 71,885,637 (GRCm39) nonsense probably null
R1393:Ptcd3 UTSW 6 71,866,605 (GRCm39) missense probably benign 0.00
R1498:Ptcd3 UTSW 6 71,870,479 (GRCm39) missense probably damaging 1.00
R1646:Ptcd3 UTSW 6 71,875,379 (GRCm39) missense probably benign 0.26
R1712:Ptcd3 UTSW 6 71,885,637 (GRCm39) nonsense probably null
R2022:Ptcd3 UTSW 6 71,862,537 (GRCm39) missense probably damaging 1.00
R2248:Ptcd3 UTSW 6 71,871,269 (GRCm39) critical splice donor site probably null
R2406:Ptcd3 UTSW 6 71,865,631 (GRCm39) missense probably damaging 1.00
R3418:Ptcd3 UTSW 6 71,860,470 (GRCm39) missense possibly damaging 0.93
R3419:Ptcd3 UTSW 6 71,860,470 (GRCm39) missense possibly damaging 0.93
R4677:Ptcd3 UTSW 6 71,870,498 (GRCm39) missense probably benign 0.17
R4741:Ptcd3 UTSW 6 71,879,933 (GRCm39) missense probably damaging 1.00
R4752:Ptcd3 UTSW 6 71,878,296 (GRCm39) missense probably damaging 0.99
R5441:Ptcd3 UTSW 6 71,858,505 (GRCm39) missense possibly damaging 0.62
R5583:Ptcd3 UTSW 6 71,879,920 (GRCm39) missense probably damaging 1.00
R5681:Ptcd3 UTSW 6 71,884,643 (GRCm39) missense probably damaging 1.00
R6028:Ptcd3 UTSW 6 71,875,392 (GRCm39) missense probably damaging 1.00
R6537:Ptcd3 UTSW 6 71,874,094 (GRCm39) splice site probably null
R6600:Ptcd3 UTSW 6 71,860,530 (GRCm39) missense probably damaging 1.00
R6783:Ptcd3 UTSW 6 71,885,627 (GRCm39) missense probably benign 0.00
R6810:Ptcd3 UTSW 6 71,862,516 (GRCm39) missense probably damaging 0.99
R6860:Ptcd3 UTSW 6 71,874,094 (GRCm39) splice site probably null
R6993:Ptcd3 UTSW 6 71,862,299 (GRCm39) missense probably damaging 1.00
R7578:Ptcd3 UTSW 6 71,885,691 (GRCm39) missense probably benign
R7788:Ptcd3 UTSW 6 71,862,541 (GRCm39) missense probably benign 0.00
R7851:Ptcd3 UTSW 6 71,879,843 (GRCm39) missense probably damaging 1.00
R7888:Ptcd3 UTSW 6 71,860,431 (GRCm39) missense probably damaging 1.00
R7889:Ptcd3 UTSW 6 71,865,592 (GRCm39) missense probably damaging 1.00
R7919:Ptcd3 UTSW 6 71,880,438 (GRCm39) missense probably damaging 1.00
R8162:Ptcd3 UTSW 6 71,884,798 (GRCm39) missense probably benign 0.02
R8351:Ptcd3 UTSW 6 71,885,625 (GRCm39) missense probably benign 0.00
R8451:Ptcd3 UTSW 6 71,885,625 (GRCm39) missense probably benign 0.00
R8701:Ptcd3 UTSW 6 71,862,495 (GRCm39) missense possibly damaging 0.92
R8826:Ptcd3 UTSW 6 71,885,645 (GRCm39) missense probably benign 0.01
R8926:Ptcd3 UTSW 6 71,869,464 (GRCm39) missense probably damaging 1.00
R8969:Ptcd3 UTSW 6 71,880,431 (GRCm39) missense probably benign 0.44
R9031:Ptcd3 UTSW 6 71,880,458 (GRCm39) nonsense probably null
R9046:Ptcd3 UTSW 6 71,870,364 (GRCm39) critical splice donor site probably null
R9384:Ptcd3 UTSW 6 71,874,110 (GRCm39) missense possibly damaging 0.77
R9668:Ptcd3 UTSW 6 71,871,275 (GRCm39) missense possibly damaging 0.93
R9771:Ptcd3 UTSW 6 71,872,903 (GRCm39) nonsense probably null
X0024:Ptcd3 UTSW 6 71,878,258 (GRCm39) missense probably damaging 1.00
X0065:Ptcd3 UTSW 6 71,884,790 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACCTCTGTTAAGAATGGAGGC -3'
(R):5'- TGAAGTGGTATAAGGACCTAATACC -3'

Sequencing Primer
(F):5'- TGAAGGTCCTGAGTTGAAATCCC -3'
(R):5'- GTGGTATAAGGACCTAATACCTTCAG -3'
Posted On 2018-04-02