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
Is this an essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 118688545-118705778 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118698558 bp (GRCm38)
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
0610010F05Rik A T 11: 23,615,265 probably null Het
3632451O06Rik T A 14: 49,770,436 T527S probably damaging Het
Adck5 A G 15: 76,594,335 probably benign Het
Akr1b3 A C 6: 34,304,267 probably benign Het
Asns A T 6: 7,677,978 S367T probably damaging Het
BC034090 T C 1: 155,226,158 N120S probably benign Het
Bub1 A T 2: 127,805,236 probably benign Het
Csf1 T A 3: 107,756,739 T38S probably damaging Het
Ctsz T C 2: 174,428,585 E268G possibly damaging Het
Dach1 G A 14: 97,827,750 T685I possibly damaging Het
Dclre1a A G 19: 56,545,442 L240S probably benign Het
Ercc1 G A 7: 19,347,132 probably benign Het
Esam C T 9: 37,534,196 T71I probably benign Het
Espl1 A G 15: 102,312,989 I944V probably damaging Het
Gm10382 A G 5: 125,389,583 probably benign Het
H2-M10.6 T C 17: 36,813,066 Y141H probably damaging Het
Hk1 C A 10: 62,315,540 K10N probably damaging Het
Lamc3 A G 2: 31,898,232 K135E probably damaging Het
Lrtm2 A G 6: 119,320,528 F184S probably damaging Het
March11 A G 15: 26,309,446 E62G probably damaging Het
Mtcl1 T A 17: 66,380,079 T611S probably benign Het
Myc A T 15: 61,989,664 H373L probably damaging Het
Myh6 T A 14: 54,962,108 I249F probably damaging Het
Naaa T C 5: 92,278,143 probably benign Het
Nfib A G 4: 82,323,658 V432A probably damaging Het
Nmt1 A G 11: 103,043,200 K55R probably damaging Het
Olfr1228 T C 2: 89,249,245 R150G possibly damaging Het
Opa3 C T 7: 19,244,774 R55W probably damaging Het
Pfn4 T A 12: 4,770,182 D10E probably damaging Het
Pld5 T A 1: 176,140,017 I91F probably damaging Het
Plec A C 15: 76,183,117 S1350A probably damaging Het
Polq G T 16: 37,013,181 V79F probably damaging Het
Ppp1r16b T C 2: 158,761,765 Y537H probably damaging Het
Prdm8 T C 5: 98,186,508 S645P probably damaging Het
Rgs1 T C 1: 144,247,906 T94A probably benign Het
Rpl11 G A 4: 136,051,143 probably benign Het
Scamp3 G A 3: 89,181,927 probably null Het
Sgsm1 TTTTATATT TTT 5: 113,258,123 probably benign Het
Sirpb1b A T 3: 15,548,761 I87K probably damaging Het
Slc14a2 G A 18: 78,207,068 R62C probably damaging Het
Stat4 T C 1: 52,071,941 probably null Het
Tex9 A T 9: 72,480,595 probably null Het
Tsku T C 7: 98,352,831 T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,562 probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r116 A C 17: 23,401,421 I710L probably benign Het
Vmn2r16 A T 5: 109,363,801 I625F probably damaging Het
Xpo4 G A 14: 57,591,022 Q794* probably null Het
Zfp112 T A 7: 24,125,048 I147N probably damaging Het
Zmiz1 T C 14: 25,636,010 S140P probably damaging Het
Other mutations in Gde1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Gde1 APN 7 118698702 missense probably damaging 1.00
IGL01288:Gde1 APN 7 118691640 missense possibly damaging 0.63
IGL01370:Gde1 APN 7 118689160 unclassified probably benign
IGL01677:Gde1 APN 7 118694487 splice site probably benign
IGL02701:Gde1 APN 7 118698637 missense probably damaging 1.00
R0130:Gde1 UTSW 7 118695060 missense probably benign 0.24
R1191:Gde1 UTSW 7 118705441 missense probably damaging 1.00
R1478:Gde1 UTSW 7 118691784 missense probably benign 0.00
R1836:Gde1 UTSW 7 118695134 missense possibly damaging 0.66
R2357:Gde1 UTSW 7 118691591 missense probably benign 0.11
R4658:Gde1 UTSW 7 118694528 missense probably benign
R5364:Gde1 UTSW 7 118698651 missense probably benign 0.00
R5367:Gde1 UTSW 7 118705406 missense probably damaging 1.00
R6255:Gde1 UTSW 7 118691781 missense probably null 0.00
R7604:Gde1 UTSW 7 118705536 missense possibly damaging 0.95
R7981:Gde1 UTSW 7 118689041 missense probably damaging 1.00
R8935:Gde1 UTSW 7 118698691 missense possibly damaging 0.70
R9100:Gde1 UTSW 7 118695082 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