Incidental Mutation 'R4416:Gdpd1'
ID 326849
Institutional Source Beutler Lab
Gene Symbol Gdpd1
Ensembl Gene ENSMUSG00000061666
Gene Name glycerophosphodiester phosphodiesterase domain containing 1
Synonyms 2610020H15Rik
MMRRC Submission 041137-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R4416 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 86924693-86964888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86926114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 277 (V277D)
Ref Sequence ENSEMBL: ENSMUSP00000020804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020804]
AlphaFold Q9CRY7
Predicted Effect probably benign
Transcript: ENSMUST00000020804
AA Change: V277D

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
AA Change: V277D

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: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,272 (GRCm39) E56V possibly damaging Het
Adam28 A G 14: 68,859,531 (GRCm39) probably null Het
Bnc1 G T 7: 81,618,708 (GRCm39) H786N probably benign Het
Cav1 T A 6: 17,339,248 (GRCm39) M100K probably benign Het
Cdk9 A G 2: 32,598,084 (GRCm39) L273P probably damaging Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cyp2c54 T C 19: 40,026,703 (GRCm39) Q484R probably benign Het
Elfn1 T C 5: 139,957,949 (GRCm39) S318P possibly damaging Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Fhip2a G T 19: 57,373,829 (GRCm39) probably null Het
Frmd6 T A 12: 70,924,023 (GRCm39) Y94N probably benign Het
Grik1 C A 16: 87,848,349 (GRCm39) V140L probably benign Het
Grpel1 A G 5: 36,628,616 (GRCm39) H175R probably damaging Het
Gtdc1 G T 2: 44,465,602 (GRCm39) probably null Het
Hivep2 A T 10: 14,004,914 (GRCm39) Q504L probably benign Het
Icos A T 1: 61,033,849 (GRCm39) I160L probably benign Het
Igsf9b G T 9: 27,234,213 (GRCm39) C442F probably damaging Het
Itga10 T C 3: 96,565,562 (GRCm39) V1062A possibly damaging Het
Lrp1b C T 2: 40,553,679 (GRCm39) V386I unknown Het
Lrp2 G T 2: 69,357,575 (GRCm39) F409L probably benign Het
Nadk T G 4: 155,672,183 (GRCm39) Y291* probably null Het
Nudt6 A T 3: 37,459,378 (GRCm39) probably null Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or2ag1b G A 7: 106,288,218 (GRCm39) T240I probably benign Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Or8d6 A G 9: 39,853,724 (GRCm39) H56R probably damaging Het
Pasd1 G A X: 70,983,225 (GRCm39) C399Y possibly damaging Het
Pds5b C T 5: 150,659,861 (GRCm39) P275S probably damaging Het
Pdzd7 T A 19: 45,029,019 (GRCm39) E117V probably damaging Het
Pik3ca T C 3: 32,515,679 (GRCm39) V784A probably damaging Het
Polr3e T C 7: 120,538,280 (GRCm39) probably null Het
Rab3gap2 A T 1: 185,014,544 (GRCm39) D1231V probably benign Het
Rapgef2 C A 3: 78,976,364 (GRCm39) G1481* probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rrm1 A G 7: 102,097,008 (GRCm39) D96G probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Srp9 A T 1: 181,958,976 (GRCm39) M50L probably benign Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Sult1d1 A G 5: 87,706,435 (GRCm39) F169S probably damaging Het
Tmem63c C G 12: 87,128,676 (GRCm39) T567R probably benign Het
Tmf1 G T 6: 97,155,949 (GRCm39) F12L probably damaging Het
Ush2a T C 1: 188,089,071 (GRCm39) I342T probably damaging Het
Veph1 A T 3: 65,968,606 (GRCm39) N712K probably damaging Het
Vti1a T G 19: 55,369,380 (GRCm39) S91A 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
PIT4687001:Gdpd1 UTSW 11 86,950,366 (GRCm39) missense probably damaging 1.00
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
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'- GGTTAACACACCTTCCCTCAG -3'
(R):5'- CCGATGTAATGGGGACTGTATG -3'

Sequencing Primer
(F):5'- CAGATCTATTCTGGTCATGACTCC -3'
(R):5'- GTATGCGCTTCCTCACAGTTAG -3'
Posted On 2015-07-07