Incidental Mutation 'R3893:Ggps1'
ID 310053
Institutional Source Beutler Lab
Gene Symbol Ggps1
Ensembl Gene ENSMUSG00000021302
Gene Name geranylgeranyl diphosphate synthase 1
Synonyms 1810026C22Rik, 9530089B04Rik, GGPP synthase
MMRRC Submission 040805-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3893 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 14225244-14238073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14228284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 300 (K300E)
Ref Sequence ENSEMBL: ENSMUSP00000126603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170957] [ENSMUST00000221338] [ENSMUST00000221713] [ENSMUST00000221953] [ENSMUST00000222164] [ENSMUST00000222687] [ENSMUST00000222747] [ENSMUST00000223090] [ENSMUST00000223174]
AlphaFold Q9WTN0
Predicted Effect probably benign
Transcript: ENSMUST00000170957
AA Change: K300E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126603
Gene: ENSMUSG00000021302
AA Change: K300E

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 14 256 2.8e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221338
Predicted Effect probably benign
Transcript: ENSMUST00000221713
Predicted Effect probably benign
Transcript: ENSMUST00000221953
Predicted Effect probably benign
Transcript: ENSMUST00000222164
Predicted Effect probably benign
Transcript: ENSMUST00000222687
Predicted Effect probably benign
Transcript: ENSMUST00000222747
Predicted Effect probably benign
Transcript: ENSMUST00000223329
Predicted Effect probably benign
Transcript: ENSMUST00000223090
Predicted Effect probably benign
Transcript: ENSMUST00000223174
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik A T 9: 98,068,864 (GRCm39) noncoding transcript Het
Adam19 C T 11: 46,019,665 (GRCm39) A455V probably damaging Het
Akr1c19 G A 13: 4,288,441 (GRCm39) D140N probably damaging Het
Atoh1 A G 6: 64,707,117 (GRCm39) T271A probably damaging Het
Atp6v0a2 G A 5: 124,777,203 (GRCm39) R168Q probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Cadps A G 14: 12,488,883 (GRCm38) probably benign Het
Cfap69 A T 5: 5,631,245 (GRCm39) V61E probably damaging Het
Chd5 A G 4: 152,445,113 (GRCm39) R365G probably damaging Het
Cracdl T A 1: 37,670,539 (GRCm39) M134L probably benign Het
Cyria T C 12: 12,412,526 (GRCm39) V232A probably benign Het
Dnajc18 A T 18: 35,834,048 (GRCm39) probably null Het
Fmnl1 T A 11: 103,087,583 (GRCm39) probably benign Het
Gca A G 2: 62,509,564 (GRCm39) Y89C probably damaging Het
Gcnt2 A G 13: 41,013,922 (GRCm39) Y31C probably benign Het
Gem C T 4: 11,705,889 (GRCm39) probably benign Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
Gprin3 T C 6: 59,331,464 (GRCm39) Y281C probably benign Het
H2-M11 A G 17: 36,857,982 (GRCm39) T6A probably benign Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Lrrk1 T C 7: 65,928,268 (GRCm39) probably benign Het
Macf1 A G 4: 123,380,199 (GRCm39) Y1298H probably damaging Het
Micu3 C T 8: 40,819,265 (GRCm39) L315F probably damaging Het
Pkd1 G A 17: 24,791,084 (GRCm39) probably null Het
Pkhd1 A T 1: 20,382,362 (GRCm39) Y2596* probably null Het
Pnliprp2 A G 19: 58,754,705 (GRCm39) S250G probably benign Het
Prkcq A C 2: 11,231,782 (GRCm39) E35A probably damaging Het
Prpf8 C A 11: 75,391,083 (GRCm39) S1377R possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rsbn1l C T 5: 21,110,838 (GRCm39) R500H probably damaging Het
Sart3 C T 5: 113,884,697 (GRCm39) E636K probably benign Het
Skint3 A G 4: 112,111,115 (GRCm39) K80R probably damaging Het
Slc11a1 G A 1: 74,423,865 (GRCm39) A398T probably damaging Het
Sspo G T 6: 48,453,505 (GRCm39) E2887* probably null Het
Tmc5 A C 7: 118,244,592 (GRCm39) Y490S probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tnfsf8 G T 4: 63,779,196 (GRCm39) T34K possibly damaging Het
Trim5 T A 7: 103,926,042 (GRCm39) N173I probably damaging Het
Vkorc1l1 A T 5: 130,011,112 (GRCm39) I109L probably benign Het
Vmn1r214 A G 13: 23,218,811 (GRCm39) T102A probably benign Het
Wdr19 A G 5: 65,385,635 (GRCm39) D579G possibly damaging Het
Zc3h6 A G 2: 128,858,060 (GRCm39) Y697C probably damaging Het
Zfp955b T C 17: 33,521,968 (GRCm39) I479T probably benign Het
Other mutations in Ggps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ggps1 APN 13 14,228,973 (GRCm39) missense probably damaging 1.00
IGL01869:Ggps1 APN 13 14,228,979 (GRCm39) missense probably damaging 1.00
R0319:Ggps1 UTSW 13 14,228,462 (GRCm39) missense possibly damaging 0.94
R4049:Ggps1 UTSW 13 14,228,284 (GRCm39) missense probably benign
R4050:Ggps1 UTSW 13 14,228,284 (GRCm39) missense probably benign
R6003:Ggps1 UTSW 13 14,228,587 (GRCm39) missense probably benign 0.05
R6021:Ggps1 UTSW 13 14,228,589 (GRCm39) missense probably damaging 1.00
R6283:Ggps1 UTSW 13 14,232,379 (GRCm39) critical splice donor site probably null
R7009:Ggps1 UTSW 13 14,228,750 (GRCm39) nonsense probably null
R7853:Ggps1 UTSW 13 14,229,034 (GRCm39) missense probably benign 0.00
R8786:Ggps1 UTSW 13 14,228,505 (GRCm39) missense probably benign 0.01
R8933:Ggps1 UTSW 13 14,228,928 (GRCm39) missense probably benign 0.11
R9514:Ggps1 UTSW 13 14,229,742 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- ACCCTCATTTACTCAATTATTGGAGTC -3'
(R):5'- TACAGAACATCCTGCGCCAG -3'

Sequencing Primer
(F):5'- CTGAAGGTCTGGAGTTCAAATCCC -3'
(R):5'- TCCTGCGCCAGAGAACAGAG -3'
Posted On 2015-04-17