Incidental Mutation 'R6003:Ggps1'
ID 478475
Institutional Source Beutler Lab
Gene Symbol Ggps1
Ensembl Gene ENSMUSG00000021302
Gene Name geranylgeranyl diphosphate synthase 1
Synonyms 1810026C22Rik, 9530089B04Rik, GGPP synthase
MMRRC Submission 043252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 14225244-14238073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 14228587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 145 (S145R)
Ref Sequence ENSEMBL: ENSMUSP00000152355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170957] [ENSMUST00000221338] [ENSMUST00000221713] [ENSMUST00000221953] [ENSMUST00000222164] [ENSMUST00000222687] [ENSMUST00000222747] [ENSMUST00000223174] [ENSMUST00000223090]
AlphaFold Q9WTN0
Predicted Effect probably benign
Transcript: ENSMUST00000170957
AA Change: S199R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000126603
Gene: ENSMUSG00000021302
AA Change: S199R

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
AA Change: S199R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000222687
AA Change: S145R

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000222747
AA Change: S199R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect unknown
Transcript: ENSMUST00000223329
AA Change: S63R
Predicted Effect probably benign
Transcript: ENSMUST00000223174
Predicted Effect probably benign
Transcript: ENSMUST00000223090
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency
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
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
Ap1m1 A G 8: 73,003,011 (GRCm39) Y93C probably damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Ccdc3 T C 2: 5,146,218 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
E2f8 T C 7: 48,520,525 (GRCm39) M599V probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Gfpt1 T A 6: 87,065,230 (GRCm39) probably null Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Kdm4b C T 17: 56,703,916 (GRCm39) R756W probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Nup54 A T 5: 92,570,853 (GRCm39) D318E probably damaging Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or2ak5 A T 11: 58,611,196 (GRCm39) I226N probably benign Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rpap2 A G 5: 107,749,767 (GRCm39) probably null Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Usp19 T C 9: 108,373,579 (GRCm39) Y691H probably damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) probably null 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
R3893:Ggps1 UTSW 13 14,228,284 (GRCm39) missense probably benign
R4049:Ggps1 UTSW 13 14,228,284 (GRCm39) missense probably benign
R4050:Ggps1 UTSW 13 14,228,284 (GRCm39) missense probably benign
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'- GCTCTCTAAGAGTGTGTCGAG -3'
(R):5'- GACACCTACACTTGTCCAACTG -3'

Sequencing Primer
(F):5'- TGTCGAGTGTATGCAAAAGAACCTAC -3'
(R):5'- CTACACTTGTCCAACTGAAGAAG -3'
Posted On 2017-06-26