Incidental Mutation 'R4373:Gde1'
ID 326065
Institutional Source Beutler Lab
Gene Symbol Gde1
Ensembl Gene ENSMUSG00000033917
Gene Name glycerophosphodiester phosphodiesterase 1
Synonyms 1200003M13Rik, MIR16
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 118287781-118304961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118297781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 35 (L35P)
Ref Sequence ENSEMBL: ENSMUSP00000122015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038791] [ENSMUST00000132509] [ENSMUST00000207323] [ENSMUST00000208040]
AlphaFold Q9JL56
Predicted Effect possibly damaging
Transcript: ENSMUST00000038791
AA Change: L145P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046371
Gene: ENSMUSG00000033917
AA Change: L145P

DomainStartEndE-ValueType
low complexity region 17 24 N/A INTRINSIC
Pfam:GDPD 70 325 1.1e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132509
AA Change: L35P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122015
Gene: ENSMUSG00000033917
AA Change: L35P

DomainStartEndE-ValueType
Pfam:GDPD 1 135 1.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207323
Predicted Effect probably benign
Transcript: ENSMUST00000208040
Meta Mutation Damage Score 0.3624 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
BC034090 T C 1: 155,101,904 (GRCm39) N120S probably benign Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dach1 G A 14: 98,065,186 (GRCm39) T685I possibly damaging Het
Dclre1a A G 19: 56,533,874 (GRCm39) L240S probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Lrtm2 A G 6: 119,297,489 (GRCm39) F184S probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nfib A G 4: 82,241,895 (GRCm39) V432A probably damaging Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Opa3 C T 7: 18,978,699 (GRCm39) R55W probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Stat4 T C 1: 52,111,100 (GRCm39) probably null Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Tsku T C 7: 98,002,038 (GRCm39) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably 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
R1191:Gde1 UTSW 7 118,304,664 (GRCm39) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- CTGCAATGCAAACGGTAAAATG -3'
(R):5'- ACTTCAGCAGCCATGTTGC -3'

Sequencing Primer
(F):5'- CGGTAAAATGGACACACAGTGCTTC -3'
(R):5'- TTTGTTAAGGCAGCTAAGAATGG -3'
Posted On 2015-07-06