Incidental Mutation 'R4079:Pdss2'
ID316760
Institutional Source Beutler Lab
Gene Symbol Pdss2
Ensembl Gene ENSMUSG00000038240
Gene Nameprenyl (solanesyl) diphosphate synthase, subunit 2
Synonyms5430420P03Rik, kd, mDLP1, PLMP
MMRRC Submission 040976-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4079 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location43221486-43464882 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43402522 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 342 (M342L)
Ref Sequence ENSEMBL: ENSMUSP00000124046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095725] [ENSMUST00000159139] [ENSMUST00000160823]
Predicted Effect probably benign
Transcript: ENSMUST00000095725
SMART Domains Protein: ENSMUSP00000093393
Gene: ENSMUSG00000038240

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 benign
Transcript: ENSMUST00000159139
SMART Domains Protein: ENSMUSP00000124864
Gene: ENSMUSG00000038240

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 benign
Transcript: ENSMUST00000160823
AA Change: M342L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124046
Gene: ENSMUSG00000038240
AA Change: M342L

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 probably benign
Transcript: ENSMUST00000162008
SMART Domains Protein: ENSMUSP00000124440
Gene: ENSMUSG00000038240

DomainStartEndE-ValueType
SCOP:d1uby__ 9 136 1e-16 SMART
Meta Mutation Damage Score 0.136 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (73/75)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 C G 4: 126,353,680 probably null Het
Ankfy1 C A 11: 72,690,009 probably benign Het
Ap4b1 T A 3: 103,813,378 N121K probably damaging Het
Arhgef12 T C 9: 42,975,292 M1131V probably damaging Het
Arl5c A T 11: 97,993,501 I88N probably damaging Het
Armc9 A T 1: 86,213,129 probably benign Het
Bnc1 T C 7: 81,973,760 E573G probably damaging Het
Btaf1 A G 19: 36,986,479 T817A probably benign Het
C3 C T 17: 57,205,303 D1542N possibly damaging Het
Cadm3 A G 1: 173,341,669 V293A probably benign Het
Cadps C T 14: 12,457,702 A1060T probably benign Het
Cbfa2t3 A G 8: 122,647,695 probably null Het
Ccdc18 C T 5: 108,158,528 Q270* probably null Het
Cdc45 A T 16: 18,811,360 V19D probably damaging Het
Cfap57 C A 4: 118,598,997 S500I probably benign Het
Cnga3 A T 1: 37,241,865 Q47L possibly damaging Het
Corin T C 5: 72,503,883 D89G probably benign Het
Cox16 A T 12: 81,474,335 probably benign Het
Cyp2a4 A G 7: 26,307,366 N50S probably benign Het
Diaph1 T A 18: 37,853,583 E1116D possibly damaging Het
Dlg5 T C 14: 24,148,260 D1535G possibly damaging Het
Enpp1 A G 10: 24,669,007 probably null Het
F13b T A 1: 139,501,770 F9I unknown Het
Fcer1a C T 1: 173,225,353 C36Y probably damaging Het
Fcho2 A G 13: 98,755,612 V318A probably damaging Het
Fzd9 A G 5: 135,249,636 V465A probably benign Het
Gm10354 A T 5: 14,977,649 L71Q probably damaging Het
Hbs1l T C 10: 21,352,602 V493A probably damaging Het
Hgs T A 11: 120,483,048 S723T probably benign Het
Hnrnpul1 C T 7: 25,726,875 R517Q probably damaging Het
Kpna7 A G 5: 145,005,927 I83T possibly damaging Het
Llgl1 C A 11: 60,710,284 probably null Het
Lrig3 A C 10: 126,009,787 E695A probably damaging Het
Lrpap1 A G 5: 35,096,037 I261T possibly damaging Het
Mfn1 T G 3: 32,542,849 L152W probably damaging Het
Mog A G 17: 37,012,410 F212S probably damaging Het
Mpeg1 A G 19: 12,462,270 N364S probably damaging Het
Mtmr3 C T 11: 4,491,057 R531Q probably damaging Het
Mx2 A G 16: 97,556,036 N443S probably damaging Het
Nfatc3 T C 8: 106,079,491 Y323H probably damaging Het
Nup188 G A 2: 30,309,878 D305N probably damaging Het
Obscn A G 11: 59,038,363 V6145A probably benign Het
Olfr1037 A G 2: 86,085,312 V155A possibly damaging Het
Olfr686 A T 7: 105,204,021 H107Q probably damaging Het
Patl1 C T 19: 11,931,630 A467V probably damaging Het
Phax A G 18: 56,575,979 N183S possibly damaging Het
Pnck A T X: 73,658,155 V93E probably damaging Het
Prol1 A G 5: 88,328,216 N155S unknown Het
Ptprk G A 10: 28,263,512 V78I probably benign Het
Ptpru A T 4: 131,798,710 probably null Het
Ptprv A G 1: 135,110,430 noncoding transcript Het
Ranbp3l A G 15: 9,060,757 N233S probably damaging Het
Rapgefl1 A G 11: 98,849,977 T552A probably benign Het
Rasgrp1 A G 2: 117,285,029 S693P probably benign Het
Scyl2 A T 10: 89,640,596 M889K probably benign Het
Serpina3a C T 12: 104,119,675 Q320* probably null Het
Slc12a1 A T 2: 125,200,623 N733I possibly damaging Het
Snap47 C T 11: 59,428,551 V254I probably benign Het
St6galnac2 A T 11: 116,681,898 L244Q possibly damaging Het
Syce1 C A 7: 140,779,896 L83F probably damaging Het
Tjp2 A T 19: 24,108,818 V780E possibly damaging Het
Tns1 G A 1: 73,995,308 R192C probably damaging Het
Trav6-3 T C 14: 53,430,080 L3P possibly damaging Het
Ung G T 5: 114,130,623 probably null Het
Usp32 T A 11: 85,039,229 Y574F probably damaging Het
Other mutations in Pdss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02346:Pdss2 APN 10 43345643 missense possibly damaging 0.80
IGL03337:Pdss2 APN 10 43345593 missense probably damaging 1.00
IGL03340:Pdss2 APN 10 43394001 missense probably benign 0.00
R0277:Pdss2 UTSW 10 43372176 missense probably benign
R0323:Pdss2 UTSW 10 43372176 missense probably benign
R0324:Pdss2 UTSW 10 43393928 missense probably damaging 1.00
R0508:Pdss2 UTSW 10 43221931 small deletion probably benign
R0654:Pdss2 UTSW 10 43221931 small deletion probably benign
R1472:Pdss2 UTSW 10 43413537 missense probably benign 0.00
R1801:Pdss2 UTSW 10 43345605 missense probably benign 0.29
R2024:Pdss2 UTSW 10 43393875 missense possibly damaging 0.81
R2025:Pdss2 UTSW 10 43393875 missense possibly damaging 0.81
R2026:Pdss2 UTSW 10 43393875 missense possibly damaging 0.81
R4077:Pdss2 UTSW 10 43402522 missense probably benign
R4292:Pdss2 UTSW 10 43221838 missense probably benign
R4518:Pdss2 UTSW 10 43372150 missense probably damaging 0.99
R4603:Pdss2 UTSW 10 43372201 missense probably damaging 0.99
R4962:Pdss2 UTSW 10 43298912 missense possibly damaging 0.47
R5016:Pdss2 UTSW 10 43222005 missense probably damaging 1.00
R5610:Pdss2 UTSW 10 43439832 missense probably benign 0.00
R5888:Pdss2 UTSW 10 43221797 synonymous silent
R5972:Pdss2 UTSW 10 43298926 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACATTTGCATGTGCTTGCTTAC -3'
(R):5'- TAATGAGACATCACACGGGTC -3'

Sequencing Primer
(F):5'- TGCTAGGCATAGTAGCATATGCC -3'
(R):5'- GGGTCTTCCAGCATCATGAACTAG -3'
Posted On2015-05-15