Incidental Mutation 'R5733:Ptcd1'
ID 451533
Institutional Source Beutler Lab
Gene Symbol Ptcd1
Ensembl Gene ENSMUSG00000029624
Gene Name pentatricopeptide repeat domain 1
Synonyms 1110069M14Rik
MMRRC Submission 043193-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R5733 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 145084324-145103918 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145091671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 476 (M476T)
Ref Sequence ENSEMBL: ENSMUSP00000031628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031628]
AlphaFold Q8C2E4
Predicted Effect probably damaging
Transcript: ENSMUST00000031628
AA Change: M476T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031628
Gene: ENSMUSG00000029624
AA Change: M476T

DomainStartEndE-ValueType
low complexity region 48 58 N/A INTRINSIC
low complexity region 64 74 N/A INTRINSIC
low complexity region 110 123 N/A INTRINSIC
Pfam:PPR_2 169 218 1.2e-16 PFAM
Pfam:PPR 172 202 1.1e-9 PFAM
Pfam:PPR_3 173 204 2.5e-5 PFAM
Pfam:PPR_3 245 278 3.2e-5 PFAM
Pfam:PPR 246 276 6.5e-4 PFAM
internal_repeat_1 437 595 1.57e-9 PROSPERO
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]
PHENOTYPE: Knockout affects mitochondrial protein synthesis and RNA metabolism. Homozygous KO is embryonic lethal. Heterozygous KO causes adult onset obesity, liver fibrosis and cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T A 5: 35,762,543 (GRCm39) probably null Het
Ahnak2 A T 12: 112,742,100 (GRCm39) Y657* probably null Het
Anxa3 T A 5: 96,968,331 (GRCm39) I128N probably damaging Het
Bsnd T C 4: 106,345,198 (GRCm39) T83A probably benign Het
Capn10 A G 1: 92,871,635 (GRCm39) Y411C probably benign Het
Capn3 G A 2: 120,315,075 (GRCm39) W201* probably null Het
Crtap T C 9: 114,207,164 (GRCm39) T365A probably benign Het
Daam1 A G 12: 71,992,272 (GRCm39) D329G unknown Het
Dmxl2 A T 9: 54,283,550 (GRCm39) L2761Q possibly damaging Het
Fcho2 A C 13: 98,926,310 (GRCm39) V91G probably damaging Het
Fen1 A T 19: 10,178,022 (GRCm39) C141S possibly damaging Het
Fkbp15 G C 4: 62,225,166 (GRCm39) A831G probably benign Het
Frmd4a A T 2: 4,305,768 (GRCm39) R14S possibly damaging Het
Fzr1 A G 10: 81,206,160 (GRCm39) F176L possibly damaging Het
Garem2 A G 5: 30,321,336 (GRCm39) D565G probably damaging Het
Garre1 A T 7: 33,944,505 (GRCm39) S76T probably damaging Het
Iqca1 G T 1: 89,998,257 (GRCm39) T549K probably damaging Het
Itgax T A 7: 127,739,647 (GRCm39) S686R probably damaging Het
Knop1 C A 7: 118,445,305 (GRCm39) G220C probably damaging Het
Lyzl1 T A 18: 4,169,142 (GRCm39) C49S probably damaging Het
Mpzl1 A T 1: 165,433,180 (GRCm39) I157K probably benign Het
Mrgprb2 T C 7: 48,202,261 (GRCm39) I155V probably benign Het
Mucl3 T C 17: 35,949,102 (GRCm39) M166V probably benign Het
Mvb12b T C 2: 33,717,728 (GRCm39) T167A probably benign Het
Myh3 A G 11: 66,979,445 (GRCm39) N491S probably benign Het
Myo5b A G 18: 74,787,128 (GRCm39) D511G possibly damaging Het
Or10ak8 C T 4: 118,774,035 (GRCm39) V210I probably benign Het
Or11h4 T C 14: 50,974,509 (GRCm39) T37A probably benign Het
Or6b1 C T 6: 42,815,180 (GRCm39) R122C probably damaging Het
Or8k21 T G 2: 86,145,558 (GRCm39) Q24P probably damaging Het
Pum3 A G 19: 27,398,695 (GRCm39) probably null Het
Ranbp2 G A 10: 58,321,658 (GRCm39) D2652N probably damaging Het
Rassf1 T C 9: 107,435,213 (GRCm39) V166A probably damaging Het
Rictor A G 15: 6,812,585 (GRCm39) H907R probably benign Het
Rorb T C 19: 18,965,471 (GRCm39) E6G probably damaging Het
Serpina3f A T 12: 104,183,182 (GRCm39) T15S possibly damaging Het
Sorbs2 T C 8: 46,212,226 (GRCm39) L100P probably damaging Het
Sprr2k T C 3: 92,340,655 (GRCm39) probably benign Het
Srrm2 T A 17: 24,040,360 (GRCm39) S2431T probably damaging Het
Stox2 T A 8: 47,866,172 (GRCm39) K57* probably null Het
Ttc21a G A 9: 119,770,327 (GRCm39) V133I probably benign Het
Vasn T C 16: 4,468,026 (GRCm39) Y658H possibly damaging Het
Zfp251 A G 15: 76,754,527 (GRCm39) Y35H probably damaging Het
Other mutations in Ptcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Ptcd1 APN 5 145,088,092 (GRCm39) unclassified probably benign
IGL00984:Ptcd1 APN 5 145,102,239 (GRCm39) missense probably benign
IGL01120:Ptcd1 APN 5 145,089,053 (GRCm39) unclassified probably benign
IGL01545:Ptcd1 APN 5 145,096,346 (GRCm39) missense probably damaging 1.00
IGL01861:Ptcd1 APN 5 145,095,587 (GRCm39) missense possibly damaging 0.81
IGL02543:Ptcd1 APN 5 145,091,497 (GRCm39) missense possibly damaging 0.66
IGL02835:Ptcd1 UTSW 5 145,091,500 (GRCm39) missense possibly damaging 0.78
PIT4366001:Ptcd1 UTSW 5 145,088,145 (GRCm39) missense probably benign 0.01
PIT4494001:Ptcd1 UTSW 5 145,092,168 (GRCm39) missense probably benign 0.01
R3001:Ptcd1 UTSW 5 145,096,386 (GRCm39) missense probably damaging 0.98
R3002:Ptcd1 UTSW 5 145,096,386 (GRCm39) missense probably damaging 0.98
R4460:Ptcd1 UTSW 5 145,096,316 (GRCm39) missense probably benign 0.25
R4587:Ptcd1 UTSW 5 145,091,531 (GRCm39) missense possibly damaging 0.47
R4652:Ptcd1 UTSW 5 145,091,985 (GRCm39) missense probably benign 0.01
R5059:Ptcd1 UTSW 5 145,089,034 (GRCm39) missense probably benign 0.07
R5364:Ptcd1 UTSW 5 145,088,241 (GRCm39) missense probably damaging 0.99
R5367:Ptcd1 UTSW 5 145,084,715 (GRCm39) utr 3 prime probably benign
R5800:Ptcd1 UTSW 5 145,096,475 (GRCm39) missense probably damaging 0.99
R6281:Ptcd1 UTSW 5 145,101,881 (GRCm39) missense probably benign 0.10
R6931:Ptcd1 UTSW 5 145,091,885 (GRCm39) missense probably benign 0.00
R7472:Ptcd1 UTSW 5 145,091,540 (GRCm39) missense possibly damaging 0.94
R7723:Ptcd1 UTSW 5 145,091,639 (GRCm39) missense probably damaging 1.00
R7731:Ptcd1 UTSW 5 145,088,174 (GRCm39) missense probably benign 0.07
R8048:Ptcd1 UTSW 5 145,091,887 (GRCm39) missense probably benign
R8090:Ptcd1 UTSW 5 145,096,345 (GRCm39) missense possibly damaging 0.91
R8774:Ptcd1 UTSW 5 145,092,175 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Ptcd1 UTSW 5 145,092,175 (GRCm39) missense probably damaging 1.00
R8952:Ptcd1 UTSW 5 145,091,944 (GRCm39) missense probably damaging 1.00
R8990:Ptcd1 UTSW 5 145,102,047 (GRCm39) missense probably damaging 1.00
R9072:Ptcd1 UTSW 5 145,091,525 (GRCm39) missense probably benign 0.36
R9073:Ptcd1 UTSW 5 145,091,525 (GRCm39) missense probably benign 0.36
R9602:Ptcd1 UTSW 5 145,096,448 (GRCm39) missense probably benign 0.00
R9740:Ptcd1 UTSW 5 145,096,294 (GRCm39) missense probably benign
Z1177:Ptcd1 UTSW 5 145,102,245 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTGACTAGTAAGCTACGATCAGG -3'
(R):5'- AGAACCTGGCCACACAGTAG -3'

Sequencing Primer
(F):5'- AGTAGACAGCCCCCTTACCTTG -3'
(R):5'- TGGCCACACAGTAGCCCTC -3'
Posted On 2017-01-03