Incidental Mutation 'R1191:Gde1'
ID 262448
Institutional Source Beutler Lab
Gene Symbol Gde1
Ensembl Gene ENSMUSG00000033917
Gene Name glycerophosphodiester phosphodiesterase 1
Synonyms 1200003M13Rik, MIR16
MMRRC Submission 039263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R1191 (G1)
Quality Score 85
Status Not validated
Chromosome 7
Chromosomal Location 118287781-118304961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118304664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 70 (H70Q)
Ref Sequence ENSEMBL: ENSMUSP00000147236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038791] [ENSMUST00000132509] [ENSMUST00000207323] [ENSMUST00000208040]
AlphaFold Q9JL56
Predicted Effect probably damaging
Transcript: ENSMUST00000038791
AA Change: H70Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046371
Gene: ENSMUSG00000033917
AA Change: H70Q

DomainStartEndE-ValueType
low complexity region 17 24 N/A INTRINSIC
Pfam:GDPD 70 325 1.1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132509
SMART Domains Protein: ENSMUSP00000122015
Gene: ENSMUSG00000033917

DomainStartEndE-ValueType
Pfam:GDPD 1 135 1.7e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207323
AA Change: H70Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000208040
AA Change: H70Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.1%
  • 20x: 87.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele lack glycero-phospho-N-acyl ethanolamine (GP-NAE) phosphodiesterase activity in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd27 T C 7: 35,301,912 (GRCm39) F144L probably damaging Het
C8b C T 4: 104,650,520 (GRCm39) P377S probably damaging Het
Cfi C A 3: 129,662,176 (GRCm39) T385N probably benign Het
Col15a1 G T 4: 47,254,083 (GRCm39) G300* probably null Het
Crlf1 G A 8: 70,951,478 (GRCm39) C119Y probably damaging Het
Dcaf4 A T 12: 83,582,741 (GRCm39) S279C probably damaging Het
Gpt2 A T 8: 86,235,901 (GRCm39) N179I probably damaging Het
Grik5 G A 7: 24,757,750 (GRCm39) Q410* probably null Het
Hspa2 C T 12: 76,452,655 (GRCm39) R450W probably damaging Het
Idh3b A T 2: 130,123,810 (GRCm39) M118K probably benign Het
Ighv5-21 T C 12: 114,286,423 (GRCm39) probably benign Het
Il12rb2 C T 6: 67,275,200 (GRCm39) V642M possibly damaging Het
Iqcg A G 16: 32,870,313 (GRCm39) V60A probably benign Het
Irx6 T A 8: 93,403,580 (GRCm39) Y102N probably damaging Het
Itgb6 C T 2: 60,483,481 (GRCm39) probably null Het
Mmp27 A T 9: 7,579,067 (GRCm39) probably null Het
Or10d5j A T 9: 39,868,264 (GRCm39) M1K probably null Het
Or1j21 T A 2: 36,683,350 (GRCm39) M34K probably damaging Het
Or2f2 C A 6: 42,767,451 (GRCm39) H159Q probably benign Het
Or5k8 T A 16: 58,644,922 (GRCm39) Y50F probably benign Het
Or8c8 G T 9: 38,165,501 (GRCm39) V263F probably damaging Het
Pcdhb16 A G 18: 37,612,926 (GRCm39) R629G probably damaging Het
Pde3b A T 7: 114,118,810 (GRCm39) M650L probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Skint3 T A 4: 112,092,939 (GRCm39) M1K probably null Het
Strn T C 17: 78,999,855 (GRCm39) Q127R possibly damaging Het
Taar2 T G 10: 23,816,927 (GRCm39) W156G probably damaging Het
Trpt1 G T 19: 6,974,138 (GRCm39) M45I probably benign Het
Ubap2l T C 3: 89,930,882 (GRCm39) T357A probably damaging Het
Ubr3 C T 2: 69,851,525 (GRCm39) R1831* probably null Het
Unc79 T A 12: 103,013,271 (GRCm39) Y287* probably null Het
Utrn T A 10: 12,509,777 (GRCm39) K2398N probably benign Het
Vav2 A T 2: 27,182,792 (GRCm39) probably null Het
Vps9d1 A T 8: 123,974,706 (GRCm39) H249Q possibly damaging Het
Vwf T A 6: 125,576,215 (GRCm39) C432S probably damaging Het
Zfp369 T A 13: 65,439,776 (GRCm39) Y153* probably null Het
Zfp760 C T 17: 21,942,286 (GRCm39) P487L probably damaging Het
Zswim2 A C 2: 83,754,039 (GRCm39) V207G possibly damaging Het
Other mutations in Gde1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Gde1 APN 7 118,297,925 (GRCm39) missense probably damaging 1.00
IGL01288:Gde1 APN 7 118,290,863 (GRCm39) missense possibly damaging 0.63
IGL01370:Gde1 APN 7 118,288,383 (GRCm39) unclassified probably benign
IGL01677:Gde1 APN 7 118,293,710 (GRCm39) splice site probably benign
IGL02701:Gde1 APN 7 118,297,860 (GRCm39) missense probably damaging 1.00
R0130:Gde1 UTSW 7 118,294,283 (GRCm39) missense probably benign 0.24
R1478:Gde1 UTSW 7 118,291,007 (GRCm39) missense probably benign 0.00
R1836:Gde1 UTSW 7 118,294,357 (GRCm39) missense possibly damaging 0.66
R2357:Gde1 UTSW 7 118,290,814 (GRCm39) missense probably benign 0.11
R4373:Gde1 UTSW 7 118,297,781 (GRCm39) missense possibly damaging 0.91
R4658:Gde1 UTSW 7 118,293,751 (GRCm39) missense probably benign
R5364:Gde1 UTSW 7 118,297,874 (GRCm39) missense probably benign 0.00
R5367:Gde1 UTSW 7 118,304,629 (GRCm39) missense probably damaging 1.00
R6255:Gde1 UTSW 7 118,291,004 (GRCm39) missense probably null 0.00
R7604:Gde1 UTSW 7 118,304,759 (GRCm39) missense possibly damaging 0.95
R7981:Gde1 UTSW 7 118,288,264 (GRCm39) missense probably damaging 1.00
R8935:Gde1 UTSW 7 118,297,914 (GRCm39) missense possibly damaging 0.70
R9100:Gde1 UTSW 7 118,294,305 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2015-02-04