Incidental Mutation 'R5076:Pdss1'
ID 395739
Institutional Source Beutler Lab
Gene Symbol Pdss1
Ensembl Gene ENSMUSG00000026784
Gene Name prenyl (solanesyl) diphosphate synthase, subunit 1
Synonyms 2610203G20Rik, mSPS1, 2700031G06Rik, Tprt
MMRRC Submission 042665-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5076 (G1)
Quality Score 173
Status Validated
Chromosome 2
Chromosomal Location 22785534-22830278 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 22789929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053729] [ENSMUST00000135621] [ENSMUST00000141215] [ENSMUST00000141215] [ENSMUST00000152170]
AlphaFold Q33DR2
Predicted Effect probably benign
Transcript: ENSMUST00000053729
SMART Domains Protein: ENSMUSP00000055689
Gene: ENSMUSG00000026784

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:polyprenyl_synt 117 366 1.5e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000091396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122676
Predicted Effect probably benign
Transcript: ENSMUST00000135621
Predicted Effect probably null
Transcript: ENSMUST00000141215
Predicted Effect probably null
Transcript: ENSMUST00000141215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148072
Predicted Effect probably benign
Transcript: ENSMUST00000152170
SMART Domains Protein: ENSMUSP00000121873
Gene: ENSMUSG00000026784

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:polyprenyl_synt 114 276 6e-35 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.0%
Validation Efficiency 97% (66/68)
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 elongates 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. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,963,559 (GRCm39) I72V probably benign Het
Aadacl3 G A 4: 144,182,640 (GRCm39) P276L possibly damaging Het
Acp6 T A 3: 97,075,305 (GRCm39) S180T probably benign Het
Adgrd1 A T 5: 129,221,053 (GRCm39) R449* probably null Het
Ak1 T C 2: 32,523,460 (GRCm39) V176A probably damaging Het
Capzb A T 4: 139,015,125 (GRCm39) D226V possibly damaging Het
Cd34 A T 1: 194,630,338 (GRCm39) probably benign Het
Cdh15 C A 8: 123,591,087 (GRCm39) D445E possibly damaging Het
Chil4 A G 3: 106,109,913 (GRCm39) F367L probably damaging Het
Clstn2 T C 9: 97,365,132 (GRCm39) Y458C probably damaging Het
Cplane2 A G 4: 140,944,696 (GRCm39) I82M probably benign Het
Ctsw T C 19: 5,518,486 (GRCm39) Y9C probably benign Het
Dhrs7 T C 12: 72,706,255 (GRCm39) D50G probably benign Het
Dnah14 A G 1: 181,584,799 (GRCm39) K3177E probably benign Het
Ehd1 T C 19: 6,327,251 (GRCm39) F83L probably benign Het
Eif5a2 G A 3: 28,836,886 (GRCm39) V59I possibly damaging Het
Emilin3 T A 2: 160,751,238 (GRCm39) probably null Het
Entpd8 A G 2: 24,975,066 (GRCm39) S426G possibly damaging Het
Epb41l4b C T 4: 57,040,984 (GRCm39) G493D probably damaging Het
Gm11596 C T 11: 99,683,698 (GRCm39) G141R unknown Het
Gpi-ps T G 8: 5,690,130 (GRCm39) noncoding transcript Het
H2-Q4 T C 17: 35,599,417 (GRCm39) Y167H probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Itpr1 A G 6: 108,382,490 (GRCm39) probably null Het
Kif2c A T 4: 117,032,066 (GRCm39) probably benign Het
Klrb1-ps1 C T 6: 129,096,751 (GRCm39) noncoding transcript Het
Krtap9-5 A T 11: 99,840,294 (GRCm39) T332S unknown Het
Lrrc39 A T 3: 116,373,189 (GRCm39) E283V probably benign Het
Mdga1 A G 17: 30,069,528 (GRCm39) S447P possibly damaging Het
Mindy1 G A 3: 95,202,710 (GRCm39) V425M probably benign Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrps5 T A 2: 127,442,772 (GRCm39) Y280* probably null Het
Muc3a T A 5: 137,244,997 (GRCm39) T159S probably damaging Het
Or10ad1b T A 15: 98,124,642 (GRCm39) I295F probably damaging Het
Or4a79 T A 2: 89,551,745 (GRCm39) T237S probably damaging Het
Or4f6 A T 2: 111,838,937 (GRCm39) M198K probably damaging Het
Pcdhga4 G A 18: 37,818,648 (GRCm39) V66I probably benign Het
Pdhx T C 2: 102,871,422 (GRCm39) T203A probably damaging Het
Pdxk G T 10: 78,286,141 (GRCm39) Q103K probably benign Het
Peg3 A G 7: 6,711,419 (GRCm39) C1268R probably damaging Het
Pitpnc1 A T 11: 107,187,093 (GRCm39) S77T probably damaging Het
Pnisr T A 4: 21,874,990 (GRCm39) probably benign Het
Poc1b C T 10: 98,943,703 (GRCm39) T22I probably damaging Het
Ppfia1 G A 7: 144,060,001 (GRCm39) R604W probably damaging Het
Ppp1r3a A G 6: 14,754,680 (GRCm39) F189S probably damaging Het
Rbks T A 5: 31,807,795 (GRCm39) Y99* probably null Het
Sh3rf2 G T 18: 42,186,989 (GRCm39) C36F probably damaging Het
Spock3 T A 8: 63,798,889 (GRCm39) N303K probably damaging Het
Tasor2 C T 13: 3,626,357 (GRCm39) V1198I probably benign Het
Tcaf2 T C 6: 42,606,401 (GRCm39) T518A probably benign Het
Tmem163 A T 1: 127,428,013 (GRCm39) V191D probably damaging Het
Trappc6b A G 12: 59,097,094 (GRCm39) V76A probably damaging Het
Ube2nl A G 7: 61,199,280 (GRCm39) noncoding transcript Het
Unc5d C T 8: 29,184,704 (GRCm39) V599M possibly damaging Het
Vmn1r184 A T 7: 25,966,346 (GRCm39) M31L probably benign Het
Vrtn C A 12: 84,696,248 (GRCm39) Q333K probably damaging Het
Zfp788 T A 7: 41,298,008 (GRCm39) F163I possibly damaging Het
Zfyve1 C T 12: 83,602,421 (GRCm39) R458H probably damaging Het
Other mutations in Pdss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Pdss1 APN 2 22,825,589 (GRCm39) missense possibly damaging 0.49
IGL02512:Pdss1 APN 2 22,802,658 (GRCm39) missense probably damaging 1.00
IGL02691:Pdss1 APN 2 22,805,253 (GRCm39) missense probably benign
LCD18:Pdss1 UTSW 2 22,790,980 (GRCm39) intron probably benign
R0190:Pdss1 UTSW 2 22,796,843 (GRCm39) missense probably damaging 0.97
R0576:Pdss1 UTSW 2 22,805,425 (GRCm39) critical splice acceptor site probably null
R0732:Pdss1 UTSW 2 22,791,324 (GRCm39) missense probably benign 0.00
R1682:Pdss1 UTSW 2 22,805,531 (GRCm39) missense probably damaging 1.00
R1808:Pdss1 UTSW 2 22,796,846 (GRCm39) nonsense probably null
R2430:Pdss1 UTSW 2 22,819,605 (GRCm39) nonsense probably null
R2937:Pdss1 UTSW 2 22,796,799 (GRCm39) splice site probably null
R2938:Pdss1 UTSW 2 22,796,799 (GRCm39) splice site probably null
R4181:Pdss1 UTSW 2 22,805,517 (GRCm39) missense probably damaging 1.00
R4302:Pdss1 UTSW 2 22,805,517 (GRCm39) missense probably damaging 1.00
R4323:Pdss1 UTSW 2 22,802,608 (GRCm39) splice site probably benign
R5108:Pdss1 UTSW 2 22,796,895 (GRCm39) missense possibly damaging 0.94
R6333:Pdss1 UTSW 2 22,791,778 (GRCm39) missense probably damaging 1.00
R7138:Pdss1 UTSW 2 22,802,681 (GRCm39) missense probably damaging 1.00
R7286:Pdss1 UTSW 2 22,825,653 (GRCm39) critical splice donor site probably null
R8169:Pdss1 UTSW 2 22,791,824 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAAAGCCCTTGCCAGACTAG -3'
(R):5'- TTCGAGAAGGGGATCTGGATGC -3'

Sequencing Primer
(F):5'- AGTTCCAAGGGGCTCTAACTC -3'
(R):5'- GGATCTGGATGCCAACAACTGC -3'
Posted On 2016-06-21