Incidental Mutation 'R0947:Gdpd1'
ID 81678
Institutional Source Beutler Lab
Gene Symbol Gdpd1
Ensembl Gene ENSMUSG00000061666
Gene Name glycerophosphodiester phosphodiesterase domain containing 1
Synonyms 2610020H15Rik
MMRRC Submission 039086-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R0947 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 86924693-86964888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86928707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 240 (E240D)
Ref Sequence ENSEMBL: ENSMUSP00000020804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020804]
AlphaFold Q9CRY7
Predicted Effect probably benign
Transcript: ENSMUST00000020804
AA Change: E240D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
AA Change: E240D

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: 99.2%
  • 3x: 98.2%
  • 10x: 95.4%
  • 20x: 89.2%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A T 18: 56,693,910 (GRCm39) probably null Het
Atm A G 9: 53,415,392 (GRCm39) V833A probably benign Het
Atp6v1b1 A T 6: 83,730,814 (GRCm39) I180F probably damaging Het
Cwf19l2 T C 9: 3,421,286 (GRCm39) S188P probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Htt T C 5: 35,056,268 (GRCm39) S2681P probably damaging Het
Itgad A G 7: 127,774,865 (GRCm39) D40G probably benign Het
Krt18 A G 15: 101,939,163 (GRCm39) Y249C possibly damaging Het
Lrp2 G T 2: 69,318,182 (GRCm39) P2090T probably damaging Het
Lrrc32 A G 7: 98,148,090 (GRCm39) D290G probably benign Het
Man1a A T 10: 53,809,619 (GRCm39) Y486* probably null Het
Mcm9 CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC 10: 53,413,597 (GRCm39) probably benign Het
Nin A T 12: 70,107,960 (GRCm39) C211S probably damaging Het
Npat A C 9: 53,481,624 (GRCm39) I1111L probably benign Het
Or5p79 A G 7: 108,221,879 (GRCm39) I287V probably benign Het
Or9i1b T A 19: 13,896,535 (GRCm39) H50Q probably benign Het
Pbx1 A G 1: 168,030,935 (GRCm39) S228P probably damaging Het
Pcsk7 G T 9: 45,822,470 (GRCm39) R230L probably damaging Het
Prom2 G T 2: 127,380,183 (GRCm39) Q350K possibly damaging Het
Racgap1 C T 15: 99,522,195 (GRCm39) A458T possibly damaging Het
Rsf1 T A 7: 97,318,985 (GRCm39) C912S probably damaging Het
Setd2 G A 9: 110,377,579 (GRCm39) E465K possibly damaging Het
Sgk2 T A 2: 162,848,758 (GRCm39) D269E probably benign Het
Spsb1 T C 4: 149,991,536 (GRCm39) T11A probably benign Het
Tln2 A T 9: 67,203,095 (GRCm39) S509T probably benign Het
Trim5 A T 7: 103,914,958 (GRCm39) D370E probably damaging Het
Ttn T A 2: 76,715,574 (GRCm39) probably benign Het
Ubr2 C A 17: 47,252,038 (GRCm39) G1501C probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r93 A T 17: 18,524,343 (GRCm39) R112S probably benign Het
Vps26b T C 9: 26,924,077 (GRCm39) Y222C probably damaging Het
Wdr64 T A 1: 175,603,315 (GRCm39) Y198N probably benign Het
Xrn1 A T 9: 95,880,316 (GRCm39) K752I possibly damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp386 T C 12: 116,023,398 (GRCm39) I372T probably benign Het
Zfp804a T C 2: 82,089,062 (GRCm39) Y964H possibly damaging 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
PIT4687001:Gdpd1 UTSW 11 86,950,366 (GRCm39) missense probably damaging 1.00
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'- TGAATGGTAGTGGCTGGGAGCA -3'
(R):5'- GCTTAAAGCCAGTGGAGGCAGAA -3'

Sequencing Primer
(F):5'- tgtaactccaatgctctcttctg -3'
(R):5'- Gtttgtttttttgagacagggtc -3'
Posted On 2013-11-08