Incidental Mutation 'R0324:Pdss2'
ID 26366
Institutional Source Beutler Lab
Gene Symbol Pdss2
Ensembl Gene ENSMUSG00000038240
Gene Name prenyl (solanesyl) diphosphate synthase, subunit 2
Synonyms 5430420P03Rik, kd, PLMP, mDLP1
MMRRC Submission 038534-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0324 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 43097482-43340878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43269924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 256 (S256P)
Ref Sequence ENSEMBL: ENSMUSP00000124046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095725] [ENSMUST00000159139] [ENSMUST00000160823]
AlphaFold Q33DR3
Predicted Effect probably damaging
Transcript: ENSMUST00000095725
AA Change: S256P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093393
Gene: ENSMUSG00000038240
AA Change: S256P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 32 46 N/A INTRINSIC
Pfam:polyprenyl_synt 106 324 9e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159139
AA Change: S256P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124864
Gene: ENSMUSG00000038240
AA Change: S256P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 32 46 N/A INTRINSIC
Pfam:polyprenyl_synt 103 323 7.9e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160823
AA Change: S256P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124046
Gene: ENSMUSG00000038240
AA Change: S256P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 32 46 N/A INTRINSIC
Pfam:polyprenyl_synt 103 319 7.4e-15 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000162008
AA Change: S3P
SMART Domains Protein: ENSMUSP00000124440
Gene: ENSMUSG00000038240
AA Change: S3P

DomainStartEndE-ValueType
SCOP:d1uby__ 9 136 1e-16 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.1%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mutations in this gene result in renal abnormalities leading to early death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,219,989 (GRCm39) L357S probably benign Het
1700129C05Rik C T 14: 59,380,256 (GRCm39) R14H probably damaging Het
Aatf A G 11: 84,402,965 (GRCm39) probably null Het
Abca13 T A 11: 9,247,669 (GRCm39) M2472K possibly damaging Het
Abcd3 C A 3: 121,562,816 (GRCm39) Q540H probably null Het
Adam17 C T 12: 21,399,939 (GRCm39) V156I probably benign Het
Adam26a A G 8: 44,021,490 (GRCm39) S667P probably benign Het
Adcy10 A G 1: 165,391,818 (GRCm39) K1333E probably benign Het
Apob G A 12: 8,060,521 (GRCm39) R2968Q probably benign Het
Arap3 G A 18: 38,106,278 (GRCm39) P1522S possibly damaging Het
Catsper1 A T 19: 5,386,573 (GRCm39) S269C probably damaging Het
Cd209d A T 8: 3,928,258 (GRCm39) S42R probably benign Het
Cntln T A 4: 85,010,932 (GRCm39) V1049E probably damaging Het
Cracr2b T C 7: 141,043,659 (GRCm39) F87L probably damaging Het
Crb3 T C 17: 57,372,133 (GRCm39) L60P probably damaging Het
Crispld1 T C 1: 17,819,815 (GRCm39) V271A probably benign Het
Cyp2c66 G T 19: 39,165,135 (GRCm39) R372L probably benign Het
Deup1 G A 9: 15,493,829 (GRCm39) R438W probably benign Het
Dnah6 C T 6: 73,150,541 (GRCm39) E741K possibly damaging Het
Epha4 T C 1: 77,360,188 (GRCm39) E703G probably damaging Het
Evc2 G A 5: 37,550,443 (GRCm39) R819H probably damaging Het
Fam217a A C 13: 35,094,944 (GRCm39) C272G possibly damaging Het
Fndc7 T C 3: 108,784,015 (GRCm39) probably null Het
Foxs1 C T 2: 152,774,607 (GRCm39) G149S probably benign Het
Galnt13 T C 2: 54,744,628 (GRCm39) V109A probably benign Het
Hmgxb4 G A 8: 75,725,556 (GRCm39) M7I probably benign Het
Klk1b1 T A 7: 43,620,165 (GRCm39) C209* probably null Het
Klra10 A G 6: 130,249,613 (GRCm39) probably null Het
Kntc1 A T 5: 123,916,175 (GRCm39) K701N probably damaging Het
Lpgat1 T A 1: 191,481,754 (GRCm39) L114Q probably damaging Het
Mecom T A 3: 30,017,261 (GRCm39) Q468L probably damaging Het
Med15 T C 16: 17,515,476 (GRCm39) T70A probably damaging Het
Msh6 T A 17: 88,294,048 (GRCm39) Y934* probably null Het
Mtus1 T C 8: 41,537,432 (GRCm39) T95A probably benign Het
Mylk3 C A 8: 86,079,535 (GRCm39) R444S probably damaging Het
Nbea A G 3: 55,965,369 (GRCm39) probably null Het
Nbeal1 T C 1: 60,332,032 (GRCm39) V2242A probably damaging Het
Nhp2 A G 11: 51,513,334 (GRCm39) T85A possibly damaging Het
Nlk A G 11: 78,463,257 (GRCm39) S413P possibly damaging Het
Nmbr A G 10: 14,636,192 (GRCm39) I54V possibly damaging Het
Nmur2 A T 11: 55,931,346 (GRCm39) C122S probably damaging Het
Nudt13 G T 14: 20,361,583 (GRCm39) V220L probably damaging Het
Or5m13 G A 2: 85,748,295 (GRCm39) V9M probably benign Het
Pclo G A 5: 14,719,447 (GRCm39) G1195R unknown Het
Pcsk7 A G 9: 45,824,309 (GRCm39) H276R possibly damaging Het
Pgf G T 12: 85,218,198 (GRCm39) H116N probably benign Het
Pglyrp2 T C 17: 32,637,302 (GRCm39) D242G probably benign Het
Plk2 G A 13: 110,534,242 (GRCm39) R274K probably benign Het
Ppp6r3 G T 19: 3,514,693 (GRCm39) P141T probably benign Het
Prss54 T C 8: 96,292,295 (GRCm39) T95A probably benign Het
Rab3il1 A G 19: 10,005,653 (GRCm39) D149G probably damaging Het
Rasgef1c T C 11: 49,852,057 (GRCm39) probably null Het
Rhpn1 T C 15: 75,583,437 (GRCm39) M334T probably damaging Het
Rigi T C 4: 40,213,766 (GRCm39) T586A probably benign Het
Robo2 C T 16: 73,764,739 (GRCm39) V630M probably damaging Het
Rptor C T 11: 119,783,467 (GRCm39) R1154W probably damaging Het
Scnn1g A G 7: 121,339,778 (GRCm39) I192M possibly damaging Het
Sit1 G A 4: 43,482,815 (GRCm39) Q115* probably null Het
Slc13a2 T C 11: 78,295,350 (GRCm39) N141S probably damaging Het
Slc19a2 C A 1: 164,084,344 (GRCm39) T78K probably damaging Het
Snx14 A G 9: 88,287,291 (GRCm39) probably null Het
Stil T A 4: 114,896,346 (GRCm39) C944S probably benign Het
Tex56 A G 13: 35,108,596 (GRCm39) N26S probably benign Het
Tnfaip2 A G 12: 111,419,893 (GRCm39) N675S probably damaging Het
Trim30c A G 7: 104,032,516 (GRCm39) I270T possibly damaging Het
Ugt2a3 C T 5: 87,474,932 (GRCm39) probably null Het
Vmn1r213 A T 13: 23,195,588 (GRCm39) probably benign Het
Vmn2r8 A C 5: 108,945,807 (GRCm39) probably null Het
Vps13c T C 9: 67,871,591 (GRCm39) F3253L possibly damaging Het
Zbtb16 G T 9: 48,576,575 (GRCm39) Q502K possibly damaging Het
Zfp143 A G 7: 109,676,354 (GRCm39) K218E possibly damaging Het
Zfp946 A G 17: 22,673,417 (GRCm39) N57S probably benign Het
Zfp985 T C 4: 147,667,314 (GRCm39) Y61H probably benign Het
Zkscan1 G A 5: 138,095,785 (GRCm39) R246Q probably damaging Het
Zpld1 A G 16: 55,071,978 (GRCm39) F94L probably damaging Het
Zswim5 G T 4: 116,844,103 (GRCm39) W1047L probably damaging Het
Other mutations in Pdss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02346:Pdss2 APN 10 43,221,639 (GRCm39) missense possibly damaging 0.80
IGL03337:Pdss2 APN 10 43,221,589 (GRCm39) missense probably damaging 1.00
IGL03340:Pdss2 APN 10 43,269,997 (GRCm39) missense probably benign 0.00
whup UTSW 10 43,269,945 (GRCm39) missense possibly damaging 0.75
R0277:Pdss2 UTSW 10 43,248,172 (GRCm39) missense probably benign
R0323:Pdss2 UTSW 10 43,248,172 (GRCm39) missense probably benign
R0508:Pdss2 UTSW 10 43,097,927 (GRCm39) small deletion probably benign
R0654:Pdss2 UTSW 10 43,097,927 (GRCm39) small deletion probably benign
R1472:Pdss2 UTSW 10 43,289,533 (GRCm39) missense probably benign 0.00
R1801:Pdss2 UTSW 10 43,221,601 (GRCm39) missense probably benign 0.29
R2024:Pdss2 UTSW 10 43,269,871 (GRCm39) missense possibly damaging 0.81
R2025:Pdss2 UTSW 10 43,269,871 (GRCm39) missense possibly damaging 0.81
R2026:Pdss2 UTSW 10 43,269,871 (GRCm39) missense possibly damaging 0.81
R4077:Pdss2 UTSW 10 43,278,518 (GRCm39) missense probably benign
R4079:Pdss2 UTSW 10 43,278,518 (GRCm39) missense probably benign
R4292:Pdss2 UTSW 10 43,097,834 (GRCm39) missense probably benign
R4518:Pdss2 UTSW 10 43,248,146 (GRCm39) missense probably damaging 0.99
R4603:Pdss2 UTSW 10 43,248,197 (GRCm39) missense probably damaging 0.99
R4962:Pdss2 UTSW 10 43,174,908 (GRCm39) missense possibly damaging 0.47
R5016:Pdss2 UTSW 10 43,098,001 (GRCm39) missense probably damaging 1.00
R5610:Pdss2 UTSW 10 43,315,828 (GRCm39) missense probably benign 0.00
R5888:Pdss2 UTSW 10 43,097,793 (GRCm39) synonymous silent
R5972:Pdss2 UTSW 10 43,174,922 (GRCm39) missense probably damaging 0.99
R7246:Pdss2 UTSW 10 43,248,172 (GRCm39) missense probably benign
R7697:Pdss2 UTSW 10 43,221,544 (GRCm39) missense probably damaging 1.00
R7765:Pdss2 UTSW 10 43,340,628 (GRCm39) missense probably benign 0.33
R8227:Pdss2 UTSW 10 43,221,577 (GRCm39) missense probably damaging 1.00
R8497:Pdss2 UTSW 10 43,289,521 (GRCm39) missense possibly damaging 0.89
R8897:Pdss2 UTSW 10 43,221,663 (GRCm39) missense probably damaging 1.00
R9101:Pdss2 UTSW 10 43,269,945 (GRCm39) missense possibly damaging 0.75
R9529:Pdss2 UTSW 10 43,269,990 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGAAGCAGGAGTGTTGCTAGTCCG -3'
(R):5'- TGTATTTCAGGATGCAGAAGGCAGG -3'

Sequencing Primer
(F):5'- atcctcctgcctcagcc -3'
(R):5'- GGTGTGCAAATACCTTGTGACTC -3'
Posted On 2013-04-16