Incidental Mutation 'R6812:Fdps'
ID 533833
Institutional Source Beutler Lab
Gene Symbol Fdps
Ensembl Gene ENSMUSG00000059743
Gene Name farnesyl diphosphate synthetase
Synonyms 6030492I17Rik, Fdpsl1
MMRRC Submission 044924-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R6812 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 89000895-89009266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89001783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 301 (E301D)
Ref Sequence ENSEMBL: ENSMUSP00000142694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000081848] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196043] [ENSMUST00000196223] [ENSMUST00000196254] [ENSMUST00000196709] [ENSMUST00000196921] [ENSMUST00000199668] [ENSMUST00000200659]
AlphaFold Q920E5
Predicted Effect probably benign
Transcript: ENSMUST00000052539
SMART Domains Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263

DomainStartEndE-ValueType
low complexity region 95 117 N/A INTRINSIC
low complexity region 149 165 N/A INTRINSIC
low complexity region 374 383 N/A INTRINSIC
low complexity region 389 402 N/A INTRINSIC
low complexity region 429 440 N/A INTRINSIC
low complexity region 577 588 N/A INTRINSIC
RUN 589 657 2.75e-16 SMART
low complexity region 669 683 N/A INTRINSIC
low complexity region 702 714 N/A INTRINSIC
low complexity region 753 770 N/A INTRINSIC
SH3 838 893 4.32e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081848
AA Change: E234D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743
AA Change: E234D

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 47 313 2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090929
SMART Domains Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263

DomainStartEndE-ValueType
low complexity region 95 117 N/A INTRINSIC
low complexity region 149 165 N/A INTRINSIC
internal_repeat_1 195 244 5.11e-5 PROSPERO
internal_repeat_1 247 292 5.11e-5 PROSPERO
low complexity region 374 383 N/A INTRINSIC
low complexity region 389 402 N/A INTRINSIC
low complexity region 429 440 N/A INTRINSIC
low complexity region 463 479 N/A INTRINSIC
low complexity region 522 543 N/A INTRINSIC
low complexity region 546 584 N/A INTRINSIC
low complexity region 714 725 N/A INTRINSIC
RUN 726 794 2.75e-16 SMART
low complexity region 806 820 N/A INTRINSIC
low complexity region 839 851 N/A INTRINSIC
low complexity region 890 907 N/A INTRINSIC
SH3 975 1030 4.32e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166687
SMART Domains Protein: ENSMUSP00000130477
Gene: ENSMUSG00000041263

DomainStartEndE-ValueType
low complexity region 115 126 N/A INTRINSIC
RUN 127 195 2.75e-16 SMART
low complexity region 207 221 N/A INTRINSIC
low complexity region 240 252 N/A INTRINSIC
low complexity region 291 308 N/A INTRINSIC
SH3 376 431 4.32e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196043
SMART Domains Protein: ENSMUSP00000142622
Gene: ENSMUSG00000041263

DomainStartEndE-ValueType
PDB:4GIW|B 8 79 5e-45 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000196223
SMART Domains Protein: ENSMUSP00000143662
Gene: ENSMUSG00000041263

DomainStartEndE-ValueType
Pfam:RUN 61 166 2.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196254
AA Change: E156D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000142669
Gene: ENSMUSG00000059743
AA Change: E156D

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 1 238 3.6e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196709
AA Change: E234D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743
AA Change: E234D

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 44 316 8.7e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196921
SMART Domains Protein: ENSMUSP00000142704
Gene: ENSMUSG00000059743

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:polyprenyl_synt 111 226 7.9e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199668
SMART Domains Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 44 121 3.2e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000200659
AA Change: E301D

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: E301D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:polyprenyl_synt 111 334 3.2e-55 PFAM
low complexity region 548 559 N/A INTRINSIC
RUN 560 628 9.3e-19 SMART
low complexity region 640 654 N/A INTRINSIC
low complexity region 673 685 N/A INTRINSIC
low complexity region 724 741 N/A INTRINSIC
SH3 809 862 2.8e-10 SMART
Meta Mutation Damage Score 0.0885 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 97.4%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 C T 16: 56,616,161 (GRCm39) probably benign Het
Ak9 A T 10: 41,243,163 (GRCm39) M686L unknown Het
Ap3b1 A T 13: 94,616,369 (GRCm39) T757S unknown Het
Apob A T 12: 8,033,062 (GRCm39) K139N probably damaging Het
Arid4a A G 12: 71,094,037 (GRCm39) E270G possibly damaging Het
Atp1a2 A T 1: 172,112,444 (GRCm39) C515S probably benign Het
Bicd1 T C 6: 149,311,035 (GRCm39) Y37H probably damaging Het
Birc2 T G 9: 7,854,418 (GRCm39) D424A probably damaging Het
Ccdc97 A T 7: 25,412,469 (GRCm39) F324L probably damaging Het
Crim1 T A 17: 78,623,029 (GRCm39) I409N probably damaging Het
Cul7 T A 17: 46,972,335 (GRCm39) I1233N probably benign Het
Dcaf1 T C 9: 106,735,268 (GRCm39) S739P probably damaging Het
Ddb1 T C 19: 10,599,863 (GRCm39) probably null Het
Dennd5b T C 6: 148,982,630 (GRCm39) probably benign Het
Dna2 A G 10: 62,795,120 (GRCm39) S464G probably benign Het
Dnah9 C T 11: 65,872,155 (GRCm39) V2692M probably damaging Het
Dvl2 T C 11: 69,891,821 (GRCm39) Y55H probably damaging Het
Eif4g3 G T 4: 137,830,687 (GRCm39) Q140H probably damaging Het
Enpp5 G A 17: 44,396,467 (GRCm39) V460M probably benign Het
Etv2 G T 7: 30,333,426 (GRCm39) C265* probably null Het
F12 T C 13: 55,569,658 (GRCm39) E146G probably damaging Het
Fsd2 G T 7: 81,184,837 (GRCm39) H686Q probably benign Het
Gk5 T C 9: 96,032,802 (GRCm39) S262P probably damaging Het
Gm20730 A G 6: 43,058,722 (GRCm39) V30A probably benign Het
Gpr68 C A 12: 100,844,670 (GRCm39) E291D probably damaging Het
Gucy2c A G 6: 136,674,993 (GRCm39) V1006A probably benign Het
Itgb1 T A 8: 129,431,891 (GRCm39) probably null Het
Kif2a A T 13: 107,106,259 (GRCm39) D570E probably benign Het
Krt8 G T 15: 101,906,414 (GRCm39) A365D probably damaging Het
Lias T A 5: 65,566,132 (GRCm39) V373E possibly damaging Het
Mpl A G 4: 118,312,461 (GRCm39) V169A probably benign Het
Myh3 T A 11: 66,977,228 (GRCm39) I319N probably damaging Het
Myrfl T A 10: 116,668,818 (GRCm39) K315I probably damaging Het
Nrap T C 19: 56,340,108 (GRCm39) D803G probably damaging Het
Obi1 A G 14: 104,747,868 (GRCm39) V40A unknown Het
Or5b119 T C 19: 13,456,975 (GRCm39) T196A probably benign Het
Pald1 A G 10: 61,178,701 (GRCm39) S536P possibly damaging Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Prkaa2 T A 4: 104,904,349 (GRCm39) T243S probably benign Het
Prrc2b T A 2: 32,103,153 (GRCm39) V877D probably benign Het
Rbm27 T A 18: 42,466,468 (GRCm39) probably null Het
Rbm48 A G 5: 3,646,105 (GRCm39) V33A probably benign Het
Rev3l G T 10: 39,699,544 (GRCm39) R1347L probably benign Het
Rtp3 A G 9: 110,816,180 (GRCm39) F124L probably benign Het
Ryr3 C T 2: 112,777,251 (GRCm39) G302D probably damaging Het
Scnn1a A G 6: 125,314,819 (GRCm39) N314S probably benign Het
Sik3 C T 9: 46,122,067 (GRCm39) R907W probably damaging Het
Sox5 C T 6: 144,062,169 (GRCm39) probably null Het
Tmc1 A C 19: 20,878,225 (GRCm39) L90R probably damaging Het
Tmtc2 A G 10: 105,249,130 (GRCm39) V201A probably benign Het
Uvrag T A 7: 98,537,689 (GRCm39) H502L probably benign Het
Vwa8 T A 14: 79,434,859 (GRCm39) I1760N probably damaging Het
Zfp318 G GAAGAAT 17: 46,723,468 (GRCm39) probably benign Het
Zfp772 T C 7: 7,209,307 (GRCm39) D61G possibly damaging Het
Other mutations in Fdps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:Fdps APN 3 89,001,749 (GRCm39) splice site probably benign
IGL01364:Fdps APN 3 89,001,577 (GRCm39) nonsense probably null
broadside UTSW 3 89,008,068 (GRCm39) missense probably damaging 1.00
R0245:Fdps UTSW 3 89,001,078 (GRCm39) missense possibly damaging 0.84
R0385:Fdps UTSW 3 89,002,201 (GRCm39) missense probably damaging 1.00
R1674:Fdps UTSW 3 89,008,037 (GRCm39) missense probably benign 0.33
R1820:Fdps UTSW 3 89,002,350 (GRCm39) missense probably benign
R4467:Fdps UTSW 3 89,008,093 (GRCm39) missense possibly damaging 0.71
R5106:Fdps UTSW 3 89,006,710 (GRCm39) missense probably damaging 0.99
R5700:Fdps UTSW 3 89,002,956 (GRCm39) missense probably damaging 1.00
R6128:Fdps UTSW 3 89,006,740 (GRCm39) missense possibly damaging 0.77
R6791:Fdps UTSW 3 89,002,659 (GRCm39) critical splice donor site probably null
R6800:Fdps UTSW 3 89,008,068 (GRCm39) missense probably damaging 1.00
R6927:Fdps UTSW 3 89,000,958 (GRCm39) missense probably benign 0.41
R7585:Fdps UTSW 3 89,001,113 (GRCm39) missense probably benign 0.17
R7599:Fdps UTSW 3 89,006,693 (GRCm39) missense probably benign 0.05
R7691:Fdps UTSW 3 89,006,674 (GRCm39) missense probably benign 0.01
R7709:Fdps UTSW 3 89,008,397 (GRCm39) missense probably damaging 0.97
R8035:Fdps UTSW 3 89,002,783 (GRCm39) missense probably benign 0.04
R8132:Fdps UTSW 3 89,006,693 (GRCm39) nonsense probably null
R8297:Fdps UTSW 3 89,001,048 (GRCm39) missense probably damaging 0.99
R8323:Fdps UTSW 3 89,002,696 (GRCm39) missense possibly damaging 0.93
R9056:Fdps UTSW 3 89,006,639 (GRCm39) missense probably benign 0.01
R9313:Fdps UTSW 3 89,006,655 (GRCm39) missense probably benign 0.00
X0060:Fdps UTSW 3 89,001,621 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- GATGTCAGTGCCGACCTTTC -3'
(R):5'- TCTGATACTGGAAAGTGGGCAG -3'

Sequencing Primer
(F):5'- TTTCCCGTCACACTGGGG -3'
(R):5'- GGCAGAGTTGAGGCCTG -3'
Posted On 2018-09-12