Incidental Mutation 'R1820:Fdps'
ID 204773
Institutional Source Beutler Lab
Gene Symbol Fdps
Ensembl Gene ENSMUSG00000059743
Gene Name farnesyl diphosphate synthetase
Synonyms 6030492I17Rik, Fdpsl1
MMRRC Submission 039848-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1820 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89000895-89009266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89002350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 249 (H249Q)
Ref Sequence ENSEMBL: ENSMUSP00000142694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000081848] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196254] [ENSMUST00000200659] [ENSMUST00000196709] [ENSMUST00000199668] [ENSMUST00000196921]
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: H182Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743
AA Change: H182Q

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 noncoding transcript
Transcript: ENSMUST00000103960
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: ENSMUST00000196254
AA Change: H88Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142669
Gene: ENSMUSG00000059743
AA Change: H88Q

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 1 238 3.6e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200659
AA Change: H249Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: H249Q

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
Predicted Effect probably benign
Transcript: ENSMUST00000196709
AA Change: H182Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743
AA Change: H182Q

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 44 316 8.7e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198239
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 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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.5%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,197,018 (GRCm39) V197A possibly damaging Het
9230109A22Rik T C 15: 25,139,176 (GRCm39) noncoding transcript Het
Acbd3 A G 1: 180,572,703 (GRCm39) N321S probably benign Het
Actr3b T C 5: 26,054,156 (GRCm39) probably null Het
Aldh5a1 T C 13: 25,111,555 (GRCm39) D124G probably benign Het
Arhgap35 G A 7: 16,295,874 (GRCm39) R1064W possibly damaging Het
Arhgef9 T A X: 94,125,142 (GRCm39) I225F probably damaging Het
Arl16 T C 11: 120,357,587 (GRCm39) T43A probably damaging Het
Camsap3 T C 8: 3,653,485 (GRCm39) W409R probably damaging Het
Cfap43 T A 19: 47,885,655 (GRCm39) H320L probably damaging Het
Chac2 T A 11: 30,927,496 (GRCm39) N141I probably damaging Het
Chtf18 C A 17: 25,944,913 (GRCm39) G211C probably damaging Het
Cplane1 A G 15: 8,299,129 (GRCm39) K3106E unknown Het
Cwf19l1 T A 19: 44,115,826 (GRCm39) Y201F probably benign Het
Dcun1d1 A T 3: 35,973,153 (GRCm39) L114* probably null Het
Fhip1a T A 3: 85,573,136 (GRCm39) T938S probably damaging Het
Gabrg1 T A 5: 70,931,756 (GRCm39) Y329F probably damaging Het
Kctd8 T A 5: 69,497,684 (GRCm39) I321F probably damaging Het
Kdm5b G T 1: 134,525,408 (GRCm39) R299L possibly damaging Het
Kif23 T C 9: 61,833,720 (GRCm39) T494A possibly damaging Het
Kmt2e A G 5: 23,678,545 (GRCm39) H208R probably damaging Het
Lipo5 A T 19: 33,441,995 (GRCm39) probably null Het
Lrrc28 G T 7: 67,290,859 (GRCm39) T54K probably damaging Het
Luc7l2 G A 6: 38,575,754 (GRCm39) probably null Het
Man2a2 A G 7: 80,008,681 (GRCm39) F899L probably benign Het
Myo9b T C 8: 71,786,002 (GRCm39) I633T probably damaging Het
Nynrin A T 14: 56,107,835 (GRCm39) I981F possibly damaging Het
Or5an1c A T 19: 12,218,612 (GRCm39) S138T probably damaging Het
Or8g28 A G 9: 39,169,695 (GRCm39) I91T possibly damaging Het
Pank1 A G 19: 34,855,084 (GRCm39) probably null Het
Phc2 C T 4: 128,637,336 (GRCm39) A47V probably damaging Het
Plekhs1 A G 19: 56,466,954 (GRCm39) R262G possibly damaging Het
Pnp2 C A 14: 51,201,914 (GRCm39) P300Q possibly damaging Het
Polq T A 16: 36,849,780 (GRCm39) S345T possibly damaging Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Psmd5 T C 2: 34,760,758 (GRCm39) probably null Het
Rfx6 T G 10: 51,599,221 (GRCm39) probably null Het
Rhbdd2 G A 5: 135,664,903 (GRCm39) C78Y probably damaging Het
Rnf157 G T 11: 116,245,477 (GRCm39) P313T probably damaging Het
Ryr2 A G 13: 11,602,202 (GRCm39) L4560P probably damaging Het
Scai A T 2: 38,996,990 (GRCm39) M268K possibly damaging Het
Scd3 A T 19: 44,230,245 (GRCm39) T343S probably benign Het
Scimp A T 11: 70,682,423 (GRCm39) S98T probably benign Het
Sfrp2 A G 3: 83,680,461 (GRCm39) N207S probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sis T C 3: 72,828,475 (GRCm39) Y1200C probably damaging Het
Sp1 T A 15: 102,317,511 (GRCm39) S343R possibly damaging Het
Spata31d1a A T 13: 59,849,069 (GRCm39) C1020S possibly damaging Het
Spink5 A G 18: 44,122,486 (GRCm39) N317S possibly damaging Het
Sptbn2 A G 19: 4,776,624 (GRCm39) D224G probably damaging Het
St8sia3 T C 18: 64,402,703 (GRCm39) I114T probably damaging Het
Zscan5b C A 7: 6,242,162 (GRCm39) H460Q probably 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
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
R6812:Fdps UTSW 3 89,001,783 (GRCm39) missense possibly damaging 0.51
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'- TGGAAGTGCCACCAACTCAC -3'
(R):5'- GTCATGTGATTGTGAGCATGCAC -3'

Sequencing Primer
(F):5'- ATGTACATGGCGGCCGC -3'
(R):5'- TTGTGAGCATGCACGGAGC -3'
Posted On 2014-06-23