Incidental Mutation 'PIT4687001:Gdpd1'
ID 556198
Institutional Source Beutler Lab
Gene Symbol Gdpd1
Ensembl Gene ENSMUSG00000061666
Gene Name glycerophosphodiester phosphodiesterase domain containing 1
Synonyms 2610020H15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # PIT4687001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 86924693-86964888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86950366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 69 (D69G)
Ref Sequence ENSEMBL: ENSMUSP00000020804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020804]
AlphaFold Q9CRY7
Predicted Effect probably damaging
Transcript: ENSMUST00000020804
AA Change: D69G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
AA Change: D69G

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:GDPD 45 204 1.2e-26 PFAM
low complexity region 206 217 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 T G 3: 137,995,596 (GRCm39) V333G probably damaging Het
Aggf1 A G 13: 95,501,383 (GRCm39) L333P probably damaging Het
Ankmy1 A G 1: 92,812,803 (GRCm39) V502A probably benign Het
Atm A G 9: 53,398,112 (GRCm39) probably null Het
Ccdc180 A G 4: 45,949,526 (GRCm39) T1594A probably damaging Het
Cep290 T A 10: 100,373,453 (GRCm39) D1244E probably benign Het
Ctnna3 A G 10: 64,670,385 (GRCm39) D638G probably damaging Het
Ctsr T C 13: 61,308,346 (GRCm39) H266R possibly damaging Het
D630045J12Rik C T 6: 38,172,036 (GRCm39) E711K probably benign Het
Dnah5 T C 15: 28,383,723 (GRCm39) S2982P probably damaging Het
Dsg1a G T 18: 20,464,755 (GRCm39) A417S probably benign Het
Gp2 C T 7: 119,050,801 (GRCm39) R310H possibly damaging Het
Ifna2 G A 4: 88,601,542 (GRCm39) H159Y possibly damaging Het
Kptn T C 7: 15,859,751 (GRCm39) V325A probably damaging Het
Marchf7 A G 2: 60,062,622 (GRCm39) E143G probably damaging Het
Mcm4 A G 16: 15,454,577 (GRCm39) L47P probably benign Het
Mcm8 T C 2: 132,659,097 (GRCm39) F27S possibly damaging Het
Nod2 T A 8: 89,408,274 (GRCm39) V967E probably damaging Het
Nrxn2 G A 19: 6,531,338 (GRCm39) R659Q probably benign Het
Or10al4 T G 17: 38,037,082 (GRCm39) C56G probably benign Het
Or4x12-ps1 A G 2: 89,916,733 (GRCm39) V24A probably benign Het
Parp10 C T 15: 76,125,122 (GRCm39) R545Q probably benign Het
Ppp2r3d T C 9: 101,021,579 (GRCm39) E332G probably benign Het
Pramel27 C T 4: 143,573,103 (GRCm39) probably benign Het
Ptpdc1 A G 13: 48,739,766 (GRCm39) V555A probably benign Het
Qsox2 G A 2: 26,112,300 (GRCm39) L81F possibly damaging Het
Sbsn GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA 7: 30,452,391 (GRCm39) probably benign Het
Spata31 A G 13: 65,069,151 (GRCm39) D433G probably benign Het
Stpg2 T C 3: 138,921,026 (GRCm39) I77T possibly damaging Het
Sugp2 T C 8: 70,710,162 (GRCm39) S928P probably damaging Het
Syne1 A G 10: 5,308,390 (GRCm39) S722P possibly damaging Het
Szt2 A T 4: 118,255,398 (GRCm39) S229T possibly damaging Het
Tm9sf3 A G 19: 41,206,630 (GRCm39) L505P probably damaging Het
Ttc39d G A 17: 80,524,354 (GRCm39) A338T probably damaging Het
Ubash3b A G 9: 40,934,814 (GRCm39) F489L probably damaging Het
Xpo7 A T 14: 70,904,589 (GRCm39) Y1015N probably benign Het
Zbtb14 C A 17: 69,695,302 (GRCm39) Y333* probably null Het
Zp2 T C 7: 119,741,102 (GRCm39) T141A probably benign Het
Other mutations in Gdpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02279:Gdpd1 APN 11 86,964,727 (GRCm39) missense probably benign 0.00
IGL02585:Gdpd1 APN 11 86,964,802 (GRCm39) start codon destroyed probably null 0.98
R0947:Gdpd1 UTSW 11 86,928,707 (GRCm39) missense probably benign
R1454:Gdpd1 UTSW 11 86,950,335 (GRCm39) missense possibly damaging 0.95
R2086:Gdpd1 UTSW 11 86,926,094 (GRCm39) missense probably benign
R2183:Gdpd1 UTSW 11 86,926,102 (GRCm39) missense probably damaging 1.00
R4416:Gdpd1 UTSW 11 86,926,114 (GRCm39) missense probably benign 0.44
R5517:Gdpd1 UTSW 11 86,950,332 (GRCm39) missense probably damaging 1.00
R7038:Gdpd1 UTSW 11 86,926,118 (GRCm39) missense probably damaging 1.00
R7898:Gdpd1 UTSW 11 86,932,639 (GRCm39) missense probably damaging 0.98
R8788:Gdpd1 UTSW 11 86,950,318 (GRCm39) missense probably damaging 1.00
R9205:Gdpd1 UTSW 11 86,936,009 (GRCm39) missense probably benign 0.22
R9507:Gdpd1 UTSW 11 86,950,264 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GGCTCTCTTCTGCCTTAAAAGC -3'
(R):5'- CTATGGAAGAGGCAACATGATTCAC -3'

Sequencing Primer
(F):5'- CTGCCTTAAAAGCATTTCCTTTAAG -3'
(R):5'- GGCAACATGATTCACCAATTATAAG -3'
Posted On 2019-06-07