Incidental Mutation 'R1381:Ptcd2'
ID 163048
Institutional Source Beutler Lab
Gene Symbol Ptcd2
Ensembl Gene ENSMUSG00000021650
Gene Name pentatricopeptide repeat domain 2
Synonyms 1190005P08Rik
MMRRC Submission 039443-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R1381 (G1)
Quality Score 158
Status Not validated
Chromosome 13
Chromosomal Location 99456157-99481215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99481105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 25 (S25P)
Ref Sequence ENSEMBL: ENSMUSP00000022153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022153] [ENSMUST00000052249] [ENSMUST00000224660]
AlphaFold Q8R3K3
Predicted Effect probably benign
Transcript: ENSMUST00000022153
AA Change: S25P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022153
Gene: ENSMUSG00000021650
AA Change: S25P

DomainStartEndE-ValueType
Pfam:MRP-S27 20 228 1.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052249
SMART Domains Protein: ENSMUSP00000062326
Gene: ENSMUSG00000041632

DomainStartEndE-ValueType
Pfam:MRP-S27 1 413 8.3e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225973
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.2%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,561,430 (GRCm39) F252L probably benign Het
Aadac A T 3: 59,947,351 (GRCm39) M350L probably damaging Het
Agtrap G A 4: 148,168,422 (GRCm39) T19I probably damaging Het
Apba3 C T 10: 81,107,590 (GRCm39) T142M possibly damaging Het
Cd55b T A 1: 130,347,412 (GRCm39) K133I probably damaging Het
Cep295 A C 9: 15,233,861 (GRCm39) C2312G probably benign Het
Ces1a A G 8: 93,760,659 (GRCm39) V231A probably damaging Het
Chdh C A 14: 29,758,791 (GRCm39) L579I probably damaging Het
Cyb5r4 T A 9: 86,904,286 (GRCm39) S19T probably benign Het
Cyp2d22 C A 15: 82,256,709 (GRCm39) R355L probably benign Het
Dach2 T C X: 112,208,472 (GRCm39) Y117H probably damaging Het
Dennd4c G A 4: 86,692,769 (GRCm39) R93K probably benign Het
Dph2 G T 4: 117,746,865 (GRCm39) L452I probably damaging Het
Exoc6b T C 6: 84,812,099 (GRCm39) D634G probably benign Het
Fam217b G A 2: 178,062,218 (GRCm39) V61I probably benign Het
Fbln7 A C 2: 128,719,299 (GRCm39) Q32P probably damaging Het
Fgfr1op2 A G 6: 146,490,239 (GRCm39) Y46C probably damaging Het
Fhod3 T A 18: 25,223,528 (GRCm39) I958N probably damaging Het
Foxp2 T A 6: 15,409,765 (GRCm39) M455K possibly damaging Het
Gabrr2 G A 4: 33,081,420 (GRCm39) G152D probably damaging Het
Galntl6 G T 8: 58,925,989 (GRCm39) P92Q probably damaging Het
Gm5592 A T 7: 40,935,596 (GRCm39) T33S probably benign Het
Grid2ip A T 5: 143,348,406 (GRCm39) T166S probably benign Het
Grsf1 G A 5: 88,813,723 (GRCm39) S225L probably benign Het
Hadha G T 5: 30,333,834 (GRCm39) T395K probably benign Het
Hars2 C T 18: 36,922,270 (GRCm39) A295V possibly damaging Het
Hsf5 T A 11: 87,528,995 (GRCm39) S577T probably benign Het
Ice2 A G 9: 69,307,809 (GRCm39) Y31C probably damaging Het
Ift80 A T 3: 68,822,116 (GRCm39) I643N possibly damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Ilvbl C A 10: 78,412,430 (GRCm39) S50R probably damaging Het
Invs C A 4: 48,421,942 (GRCm39) S858* probably null Het
Ipo13 T G 4: 117,761,592 (GRCm39) T508P probably damaging Het
Itgb4 T C 11: 115,885,163 (GRCm39) I1015T probably benign Het
Kank4 A T 4: 98,668,175 (GRCm39) W91R probably damaging Het
Kansl1l C T 1: 66,760,063 (GRCm39) A906T probably benign Het
Klk4 G A 7: 43,534,706 (GRCm39) V222M probably damaging Het
Lipo4 T A 19: 33,476,741 (GRCm39) M336L probably benign Het
Lrig1 T C 6: 94,583,111 (GRCm39) N1002D probably benign Het
Lzts3 A G 2: 130,477,219 (GRCm39) S524P probably damaging Het
Maz A T 7: 126,622,324 (GRCm39) C409* probably null Het
Mmp24 A T 2: 155,656,047 (GRCm39) Q495L possibly damaging Het
Mrgpra9 C T 7: 46,885,050 (GRCm39) V206I possibly damaging Het
Myof A G 19: 37,983,933 (GRCm39) Y124H probably damaging Het
Nalcn A T 14: 123,551,517 (GRCm39) V1030D probably damaging Het
Neb T A 2: 52,150,544 (GRCm39) I2495F probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nup153 T C 13: 46,842,657 (GRCm39) D837G probably damaging Het
Nup210 C A 6: 91,052,942 (GRCm39) G331V probably damaging Het
Or5b97 T C 19: 12,878,320 (GRCm39) T275A probably benign Het
Or5w18 T C 2: 87,633,480 (GRCm39) L245P probably damaging Het
Or6z7 A G 7: 6,484,008 (GRCm39) probably null Het
Or8b56 T A 9: 38,739,634 (GRCm39) S210T probably benign Het
Pabpc4 T A 4: 123,182,852 (GRCm39) L163H probably damaging Het
Pcdh7 T A 5: 57,878,882 (GRCm39) Y126* probably null Het
Pdzd2 A G 15: 12,385,525 (GRCm39) S1082P probably benign Het
Pkd2l1 T C 19: 44,138,902 (GRCm39) I649M probably benign Het
Plcl2 G A 17: 50,914,757 (GRCm39) E589K probably damaging Het
Plppr1 C A 4: 49,337,674 (GRCm39) T325N possibly damaging Het
Prss8 GCTGCCCAAGTCCC GC 7: 127,529,021 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rusc2 T A 4: 43,416,137 (GRCm39) V481E probably damaging Het
Sephs2 G T 7: 126,872,139 (GRCm39) T318K probably damaging Het
Sf3b1 T A 1: 55,042,313 (GRCm39) I497L probably damaging Het
Slc30a7 C T 3: 115,750,519 (GRCm39) probably null Het
Slc66a2 T G 18: 80,326,529 (GRCm39) S126A probably benign Het
Smarca2 T C 19: 26,608,228 (GRCm39) S96P probably damaging Het
Spata31d1c A C 13: 65,184,368 (GRCm39) I637L probably benign Het
Ston2 A T 12: 91,707,266 (GRCm39) S115T probably damaging Het
Tal2 A C 4: 53,785,999 (GRCm39) E60A probably benign Het
Tdpoz3 A T 3: 93,733,447 (GRCm39) T41S probably benign Het
Tent4b T A 8: 88,969,937 (GRCm39) M203K possibly damaging Het
Tespa1 T C 10: 130,196,560 (GRCm39) I166T probably benign Het
Thsd7a A T 6: 12,555,438 (GRCm39) C149S probably damaging Het
Trav6-1 T A 14: 52,875,967 (GRCm39) probably benign Het
Txnl4a T C 18: 80,250,479 (GRCm39) V25A probably benign Het
Utp4 C A 8: 107,632,908 (GRCm39) P297Q probably benign Het
Vmn1r34 T C 6: 66,613,922 (GRCm39) Y272C probably damaging Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Vmn2r121 C A X: 123,037,837 (GRCm39) G728W probably damaging Het
Vmn2r24 T A 6: 123,763,692 (GRCm39) S190T probably damaging Het
Zfp507 A G 7: 35,475,435 (GRCm39) V926A possibly damaging Het
Other mutations in Ptcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Ptcd2 APN 13 99,466,573 (GRCm39) missense probably benign 0.11
IGL01537:Ptcd2 APN 13 99,466,521 (GRCm39) missense possibly damaging 0.95
IGL01819:Ptcd2 APN 13 99,463,219 (GRCm39) missense possibly damaging 0.78
IGL03368:Ptcd2 APN 13 99,466,577 (GRCm39) splice site probably benign
PIT4431001:Ptcd2 UTSW 13 99,476,527 (GRCm39) nonsense probably null
R0276:Ptcd2 UTSW 13 99,458,104 (GRCm39) missense probably benign 0.16
R0411:Ptcd2 UTSW 13 99,479,899 (GRCm39) missense probably damaging 1.00
R2007:Ptcd2 UTSW 13 99,456,744 (GRCm39) missense probably damaging 0.99
R4059:Ptcd2 UTSW 13 99,481,084 (GRCm39) missense probably damaging 0.99
R4094:Ptcd2 UTSW 13 99,468,957 (GRCm39) missense probably damaging 0.99
R7594:Ptcd2 UTSW 13 99,456,790 (GRCm39) missense possibly damaging 0.81
R7616:Ptcd2 UTSW 13 99,481,207 (GRCm39) unclassified probably benign
R8547:Ptcd2 UTSW 13 99,469,462 (GRCm39) missense probably damaging 1.00
R8928:Ptcd2 UTSW 13 99,476,505 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACACCCGACGACTGAGGTATGTTC -3'
(R):5'- AGACGCACTTATGCGCTTCCTG -3'

Sequencing Primer
(F):5'- TTCTCGAAGAGCAACTTGGAC -3'
(R):5'- TCTTGGAGCGCACCAAGTG -3'
Posted On 2014-03-17