Incidental Mutation 'R4616:Gpld1'
ID 351060
Institutional Source Beutler Lab
Gene Symbol Gpld1
Ensembl Gene ENSMUSG00000021340
Gene Name glycosylphosphatidylinositol specific phospholipase D1
Synonyms 6330541J12Rik
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 25127135-25175919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25168799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 771 (G771D)
Ref Sequence ENSEMBL: ENSMUSP00000021773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021772] [ENSMUST00000021773]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021772
SMART Domains Protein: ENSMUSP00000021772
Gene: ENSMUSG00000021339

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 292 306 N/A INTRINSIC
coiled coil region 323 359 N/A INTRINSIC
transmembrane domain 374 396 N/A INTRINSIC
transmembrane domain 409 426 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000021773
AA Change: G771D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: G771D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Zn_dep_PLPC 28 219 9.8e-28 PFAM
Int_alpha 377 435 7.21e-11 SMART
Int_alpha 446 503 7.43e-13 SMART
Int_alpha 509 565 7.86e-3 SMART
Int_alpha 576 643 4.09e0 SMART
Blast:Int_alpha 644 708 2e-24 BLAST
Int_alpha 716 774 1.86e-4 SMART
Blast:Int_alpha 789 837 1e-16 BLAST
Meta Mutation Damage Score 0.2661 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly damaging Het
Other mutations in Gpld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Gpld1 APN 13 25,170,905 (GRCm39) splice site probably benign
IGL00886:Gpld1 APN 13 25,146,336 (GRCm39) nonsense probably null
IGL01060:Gpld1 APN 13 25,166,549 (GRCm39) missense probably damaging 1.00
IGL01450:Gpld1 APN 13 25,163,664 (GRCm39) missense probably damaging 1.00
IGL02176:Gpld1 APN 13 25,168,192 (GRCm39) critical splice donor site probably null
IGL02288:Gpld1 APN 13 25,163,666 (GRCm39) nonsense probably null
IGL02323:Gpld1 APN 13 25,166,757 (GRCm39) missense probably damaging 0.97
IGL02588:Gpld1 APN 13 25,127,682 (GRCm39) missense probably damaging 1.00
IGL02832:Gpld1 APN 13 25,136,861 (GRCm39) missense probably damaging 1.00
IGL02989:Gpld1 APN 13 25,174,019 (GRCm39) missense possibly damaging 0.87
IGL03282:Gpld1 APN 13 25,155,391 (GRCm39) missense probably benign 0.01
IGL03345:Gpld1 APN 13 25,171,007 (GRCm39) missense probably damaging 1.00
R0017:Gpld1 UTSW 13 25,174,101 (GRCm39) missense probably damaging 1.00
R0017:Gpld1 UTSW 13 25,174,101 (GRCm39) missense probably damaging 1.00
R0308:Gpld1 UTSW 13 25,146,818 (GRCm39) missense possibly damaging 0.81
R0441:Gpld1 UTSW 13 25,146,303 (GRCm39) nonsense probably null
R1172:Gpld1 UTSW 13 25,141,549 (GRCm39) splice site probably null
R1411:Gpld1 UTSW 13 25,146,791 (GRCm39) missense probably damaging 0.99
R1502:Gpld1 UTSW 13 25,155,399 (GRCm39) missense probably benign 0.00
R1565:Gpld1 UTSW 13 25,140,051 (GRCm39) missense probably damaging 0.99
R1931:Gpld1 UTSW 13 25,127,693 (GRCm39) missense possibly damaging 0.71
R1999:Gpld1 UTSW 13 25,146,630 (GRCm39) missense probably benign 0.23
R2150:Gpld1 UTSW 13 25,146,630 (GRCm39) missense probably benign 0.23
R2240:Gpld1 UTSW 13 25,166,490 (GRCm39) critical splice acceptor site probably null
R2327:Gpld1 UTSW 13 25,168,804 (GRCm39) missense probably benign 0.00
R2373:Gpld1 UTSW 13 25,146,839 (GRCm39) missense probably benign 0.26
R3153:Gpld1 UTSW 13 25,127,603 (GRCm39) missense unknown
R3154:Gpld1 UTSW 13 25,127,603 (GRCm39) missense unknown
R3154:Gpld1 UTSW 13 25,140,146 (GRCm39) critical splice donor site probably null
R3911:Gpld1 UTSW 13 25,146,305 (GRCm39) missense probably damaging 1.00
R4660:Gpld1 UTSW 13 25,166,586 (GRCm39) splice site probably null
R4755:Gpld1 UTSW 13 25,163,675 (GRCm39) nonsense probably null
R4755:Gpld1 UTSW 13 25,163,671 (GRCm39) missense probably benign 0.13
R4835:Gpld1 UTSW 13 25,166,699 (GRCm39) missense probably benign 0.00
R4895:Gpld1 UTSW 13 25,163,711 (GRCm39) missense probably damaging 0.97
R5050:Gpld1 UTSW 13 25,146,739 (GRCm39) missense probably benign 0.00
R5182:Gpld1 UTSW 13 25,168,053 (GRCm39) splice site probably null
R6161:Gpld1 UTSW 13 25,155,397 (GRCm39) missense probably benign 0.00
R6626:Gpld1 UTSW 13 25,163,953 (GRCm39) missense probably damaging 1.00
R7021:Gpld1 UTSW 13 25,168,691 (GRCm39) missense probably damaging 1.00
R7577:Gpld1 UTSW 13 25,146,388 (GRCm39) missense probably benign 0.05
R7583:Gpld1 UTSW 13 25,159,743 (GRCm39) missense probably damaging 1.00
R7659:Gpld1 UTSW 13 25,163,964 (GRCm39) missense probably benign 0.00
R7737:Gpld1 UTSW 13 25,159,709 (GRCm39) missense probably damaging 1.00
R7738:Gpld1 UTSW 13 25,146,305 (GRCm39) missense probably damaging 1.00
R7752:Gpld1 UTSW 13 25,146,758 (GRCm39) missense probably damaging 1.00
R7759:Gpld1 UTSW 13 25,146,383 (GRCm39) missense probably damaging 0.99
R7901:Gpld1 UTSW 13 25,146,758 (GRCm39) missense probably damaging 1.00
R8855:Gpld1 UTSW 13 25,170,890 (GRCm39) missense probably benign 0.00
R8866:Gpld1 UTSW 13 25,170,890 (GRCm39) missense probably benign 0.00
R9150:Gpld1 UTSW 13 25,146,305 (GRCm39) missense probably damaging 1.00
R9228:Gpld1 UTSW 13 25,136,900 (GRCm39) missense probably damaging 1.00
R9359:Gpld1 UTSW 13 25,163,712 (GRCm39) missense probably benign 0.00
R9403:Gpld1 UTSW 13 25,163,712 (GRCm39) missense probably benign 0.00
X0024:Gpld1 UTSW 13 25,166,579 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGGCCTTTCACTGACTTTGGAG -3'
(R):5'- GCTGTGAACAAGGACCAAGTC -3'

Sequencing Primer
(F):5'- AGCCGTGGCAACTGGTTAC -3'
(R):5'- CCAAGTCCAACTGGGTTCC -3'
Posted On 2015-10-08