Incidental Mutation 'IGL03340:Pdss2'
ID 417188
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdss2
Ensembl Gene ENSMUSG00000038240
Gene Name prenyl (solanesyl) diphosphate synthase, subunit 2
Synonyms 5430420P03Rik, kd, PLMP, mDLP1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03340
Quality Score
Status
Chromosome 10
Chromosomal Location 43097482-43340878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43269997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 280 (D280G)
Ref Sequence ENSEMBL: ENSMUSP00000124046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095725] [ENSMUST00000159139] [ENSMUST00000160823]
AlphaFold Q33DR3
Predicted Effect probably benign
Transcript: ENSMUST00000095725
AA Change: D280G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093393
Gene: ENSMUSG00000038240
AA Change: D280G

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
AA Change: D280G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124864
Gene: ENSMUSG00000038240
AA Change: D280G

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: D280G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124046
Gene: ENSMUSG00000038240
AA Change: D280G

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: D27G
SMART Domains Protein: ENSMUSP00000124440
Gene: ENSMUSG00000038240
AA Change: D27G

DomainStartEndE-ValueType
SCOP:d1uby__ 9 136 1e-16 SMART
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,126,786 (GRCm39) L26P probably benign Het
Aff1 A T 5: 103,931,670 (GRCm39) H104L possibly damaging Het
Apon T C 10: 128,090,847 (GRCm39) I175T probably benign Het
C2cd6 A C 1: 59,115,830 (GRCm39) F168V probably benign Het
Cgn C T 3: 94,685,405 (GRCm39) probably benign Het
Cramp1 G A 17: 25,192,516 (GRCm39) P956L probably damaging Het
Cyp2e1 G A 7: 140,344,767 (GRCm39) V78M probably damaging Het
Cyp4b1 G A 4: 115,499,076 (GRCm39) P97S probably damaging Het
Fads2 G T 19: 10,069,136 (GRCm39) P96Q possibly damaging Het
Fcer2a T C 8: 3,738,310 (GRCm39) D120G possibly damaging Het
Fhip1b A G 7: 105,038,517 (GRCm39) S241P probably damaging Het
Gm21972 G T 1: 86,061,450 (GRCm39) A887S probably damaging Het
Grk6 A G 13: 55,601,003 (GRCm39) D295G probably damaging Het
Herc2 T A 7: 55,740,668 (GRCm39) V270D possibly damaging Het
Kcnk2 T A 1: 189,027,878 (GRCm39) I126F possibly damaging Het
Kifap3 T G 1: 163,656,718 (GRCm39) V346G possibly damaging Het
Kpna1 T A 16: 35,820,616 (GRCm39) N20K probably damaging Het
Krt33b A G 11: 99,916,298 (GRCm39) probably benign Het
Krtap9-5 T C 11: 99,839,427 (GRCm39) C43R possibly damaging Het
Lars1 G A 18: 42,361,715 (GRCm39) probably benign Het
Lifr T C 15: 7,207,417 (GRCm39) W540R probably benign Het
Lrp1b A G 2: 41,358,981 (GRCm39) S631P probably damaging Het
Mbd1 G T 18: 74,407,553 (GRCm39) R111L probably benign Het
Meltf C T 16: 31,711,602 (GRCm39) T576M probably damaging Het
Mmp20 G A 9: 7,643,995 (GRCm39) G228S probably damaging Het
Mob4 A G 1: 55,175,867 (GRCm39) D37G possibly damaging Het
Msr1 T C 8: 40,073,048 (GRCm39) K234E possibly damaging Het
Myof A G 19: 37,899,607 (GRCm39) V1764A probably damaging Het
Naaladl1 A G 19: 6,156,229 (GRCm39) Y105C possibly damaging Het
Nisch A G 14: 30,895,101 (GRCm39) V1065A probably damaging Het
Npas4 A T 19: 5,035,094 (GRCm39) probably benign Het
Or4c124 T C 2: 89,156,039 (GRCm39) T162A possibly damaging Het
Plk3 A G 4: 116,990,125 (GRCm39) I182T probably damaging Het
Ppm1k A G 6: 57,487,711 (GRCm39) W371R probably damaging Het
Samm50 T C 15: 84,082,864 (GRCm39) probably null Het
Scaper G T 9: 55,510,116 (GRCm39) T640K possibly damaging Het
Sun3 A C 11: 8,973,285 (GRCm39) probably benign Het
Svep1 T A 4: 58,111,451 (GRCm39) K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 (GRCm39) P745Q probably benign Het
Tomm20l A T 12: 71,164,388 (GRCm39) probably benign Het
Usp38 A C 8: 81,738,905 (GRCm39) L237V probably damaging Het
Vmn1r210 T C 13: 23,011,644 (GRCm39) Y214C probably benign Het
Zan G A 5: 137,426,136 (GRCm39) P2547S unknown 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
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
R0324:Pdss2 UTSW 10 43,269,924 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02