Incidental Mutation 'R7138:Pdss1'
ID 553163
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 045249-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7138 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 22785534-22830278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22802681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 173 (H173Q)
Ref Sequence ENSEMBL: ENSMUSP00000055689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053729] [ENSMUST00000152170]
AlphaFold Q33DR2
Predicted Effect probably damaging
Transcript: ENSMUST00000053729
AA Change: H173Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055689
Gene: ENSMUSG00000026784
AA Change: H173Q

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:polyprenyl_synt 117 366 1.5e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152170
AA Change: H173Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121873
Gene: ENSMUSG00000026784
AA Change: H173Q

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:polyprenyl_synt 114 276 6e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,899,113 (GRCm39) C698* probably null Het
Acacb G A 5: 114,345,387 (GRCm39) V947M probably benign Het
Acadsb T G 7: 131,042,968 (GRCm39) L343R probably damaging Het
Adgrf2 C T 17: 43,021,874 (GRCm39) E317K probably damaging Het
Agap2 A G 10: 126,923,154 (GRCm39) T663A unknown Het
Akap8 A T 17: 32,535,515 (GRCm39) F166L possibly damaging Het
Ankrd17 A T 5: 90,390,836 (GRCm39) M2278K probably benign Het
Avl9 T C 6: 56,705,242 (GRCm39) S148P probably damaging Het
Brf1 T C 12: 112,933,835 (GRCm39) E266G probably damaging Het
Cabin1 T C 10: 75,581,187 (GRCm39) K380E probably damaging Het
Catsper2 T C 2: 121,227,544 (GRCm39) D542G possibly damaging Het
Cbln4 C A 2: 171,884,095 (GRCm39) D42Y probably damaging Het
Ccn6 T A 10: 39,034,473 (GRCm39) Q43L possibly damaging Het
Cd5 C T 19: 10,697,668 (GRCm39) R437Q probably damaging Het
Ceacam18 G C 7: 43,288,706 (GRCm39) E152D possibly damaging Het
Chd8 A G 14: 52,451,955 (GRCm39) S1347P possibly damaging Het
Chodl T G 16: 78,738,335 (GRCm39) I101R probably damaging Het
Clk4 T G 11: 51,168,759 (GRCm39) F377L probably damaging Het
Cntnap3 C T 13: 64,929,539 (GRCm39) probably null Het
Dab2 A G 15: 6,458,780 (GRCm39) S231G probably benign Het
Disp2 T A 2: 118,617,361 (GRCm39) H118Q probably benign Het
Dnah10 T C 5: 124,900,009 (GRCm39) F3869S probably damaging Het
Edil3 C T 13: 89,279,847 (GRCm39) T175I probably damaging Het
Eif1ad18 T G 12: 88,050,648 (GRCm39) I61R probably damaging Het
Fap A G 2: 62,372,522 (GRCm39) S319P probably benign Het
Frmpd2 T A 14: 33,293,761 (GRCm39) V1309E probably benign Het
Galntl5 T A 5: 25,394,842 (GRCm39) S70T probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gna15 G A 10: 81,343,881 (GRCm39) T260M probably damaging Het
Gucy2c A G 6: 136,705,342 (GRCm39) I531T probably damaging Het
Heatr5b A G 17: 79,135,417 (GRCm39) V238A probably damaging Het
Htr2a A G 14: 74,943,182 (GRCm39) Y254C probably damaging Het
Inpp5b A G 4: 124,679,065 (GRCm39) R491G probably damaging Het
Kcnt2 C T 1: 140,523,778 (GRCm39) L1093F possibly damaging Het
Kcp C A 6: 29,491,861 (GRCm39) E922* probably null Het
Lrp2 G A 2: 69,296,089 (GRCm39) A3340V possibly damaging Het
Lrrn1 T G 6: 107,545,336 (GRCm39) V378G probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Net1 G A 13: 3,938,510 (GRCm39) R126C probably damaging Het
Nipsnap3a T C 4: 52,993,978 (GRCm39) C20R probably benign Het
Nxpe2 C T 9: 48,232,006 (GRCm39) C317Y probably damaging Het
Or10v9 T A 19: 11,832,652 (GRCm39) I222F probably damaging Het
Or52h1 T C 7: 103,829,504 (GRCm39) Y37C probably damaging Het
Or8b8 T C 9: 37,809,360 (GRCm39) I220T probably damaging Het
Or8g54 T G 9: 39,707,086 (GRCm39) Y138* probably null Het
Orm1 T A 4: 63,262,949 (GRCm39) W39R probably damaging Het
Pds5b A T 5: 150,724,142 (GRCm39) K1240* probably null Het
Pebp1 A G 5: 117,423,882 (GRCm39) W84R probably damaging Het
Pla2g4e C T 2: 120,001,759 (GRCm39) C630Y probably damaging Het
Plaat3 T A 19: 7,556,550 (GRCm39) V117E probably damaging Het
Plekho2 G T 9: 65,463,635 (GRCm39) Q405K probably benign Het
Plppr2 T A 9: 21,855,708 (GRCm39) V227E probably damaging Het
Pphln1-ps1 T A 16: 13,495,589 (GRCm39) D229E probably benign Het
Rapgef4 T C 2: 72,028,707 (GRCm39) S393P probably damaging Het
Rapgefl1 A G 11: 98,737,900 (GRCm39) probably null Het
Ripk3 C A 14: 56,025,803 (GRCm39) R19L probably benign Het
Rnase10 G T 14: 51,247,167 (GRCm39) V182F probably damaging Het
Rsf1 T A 7: 97,319,002 (GRCm39) S917R Het
Sephs2 T C 7: 126,872,187 (GRCm39) N302S possibly damaging Het
Slc13a2 C T 11: 78,289,950 (GRCm39) V455M possibly damaging Het
Slc30a2 A T 4: 134,071,429 (GRCm39) D54V probably benign Het
Slco6c1 T C 1: 97,047,706 (GRCm39) E199G possibly damaging Het
Snx27 A T 3: 94,436,247 (GRCm39) M256K probably benign Het
Spag4 T A 2: 155,908,519 (GRCm39) S150T probably benign Het
Spon1 T A 7: 113,635,945 (GRCm39) C720S probably damaging Het
Tbc1d22a T C 15: 86,123,356 (GRCm39) S166P probably benign Het
Tbc1d9 T C 8: 83,937,113 (GRCm39) I65T probably damaging Het
Tmem176a T A 6: 48,820,953 (GRCm39) V141D probably damaging Het
Tmem268 G A 4: 63,480,687 (GRCm39) probably benign Het
Tonsl A G 15: 76,518,976 (GRCm39) V519A probably benign Het
Ttn G A 2: 76,612,376 (GRCm39) P17204S possibly damaging Het
Wrap53 T A 11: 69,454,694 (GRCm39) D225V probably benign Het
Zfhx4 G A 3: 5,477,107 (GRCm39) A3241T possibly damaging Het
Zfp1002 T C 2: 150,097,372 (GRCm39) H47R probably damaging Het
Znfx1 T C 2: 166,898,697 (GRCm39) R76G probably benign 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
R5076:Pdss1 UTSW 2 22,789,929 (GRCm39) critical splice acceptor site probably null
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
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'- TCGGGTCTATAGAGCAACCAAC -3'
(R):5'- ACTCCTTTCAGAGACCACATTC -3'

Sequencing Primer
(F):5'- AGCAACCAACATTTTTATACAGTTTC -3'
(R):5'- TTTCAGAGACCACATTCAAACAAGTC -3'
Posted On 2019-05-15