Incidental Mutation 'R6161:Gpld1'
ID 489887
Institutional Source Beutler Lab
Gene Symbol Gpld1
Ensembl Gene ENSMUSG00000021340
Gene Name glycosylphosphatidylinositol specific phospholipase D1
Synonyms 6330541J12Rik
MMRRC Submission 044308-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6161 (G1)
Quality Score 187.009
Status Validated
Chromosome 13
Chromosomal Location 25127135-25175919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25155397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 344 (Q344L)
Ref Sequence ENSEMBL: ENSMUSP00000021773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021773]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021773
AA Change: Q344L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: Q344L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223873
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Cers5 A G 15: 99,636,544 (GRCm39) probably null Het
Chuk T C 19: 44,071,076 (GRCm39) E543G probably damaging Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fbxw8 T C 5: 118,230,740 (GRCm39) T354A possibly damaging Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Hao1 A T 2: 134,347,545 (GRCm39) D253E probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Map3k5 T C 10: 19,876,321 (GRCm39) V160A probably damaging Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mc4r A T 18: 66,992,251 (GRCm39) Y287* probably null Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Notch1 A T 2: 26,358,743 (GRCm39) C1363S probably damaging Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Pop1 T C 15: 34,526,456 (GRCm39) Y684H probably damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc24a1 T C 9: 64,844,545 (GRCm39) N606S unknown Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W probably 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
R4616:Gpld1 UTSW 13 25,168,799 (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
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'- AGATTGTACCCCTGCCATCATC -3'
(R):5'- CCCATGTGCCTGGTTAACAC -3'

Sequencing Primer
(F):5'- CTCTTGGACCATCTCTGTGTGACG -3'
(R):5'- CCATGTGCCTGGTTAACACAAATG -3'
Posted On 2017-10-10