Incidental Mutation 'R2379:Pld2'
ID 248396
Institutional Source Beutler Lab
Gene Symbol Pld2
Ensembl Gene ENSMUSG00000020828
Gene Name phospholipase D2
Synonyms
MMRRC Submission 040355-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R2379 (G1)
Quality Score 184
Status Not validated
Chromosome 11
Chromosomal Location 70430890-70448936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70445140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 580 (Y580F)
Ref Sequence ENSEMBL: ENSMUSP00000104197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018429] [ENSMUST00000108557]
AlphaFold P97813
Predicted Effect probably benign
Transcript: ENSMUST00000018429
AA Change: Y580F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: Y580F

DomainStartEndE-ValueType
PX 64 192 2.12e-20 SMART
PH 203 313 4.75e-6 SMART
PLDc 437 464 8.44e-4 SMART
PLDc 751 778 4.12e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108557
AA Change: Y580F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: Y580F

DomainStartEndE-ValueType
PX 64 192 2.12e-20 SMART
PH 203 313 4.75e-6 SMART
PLDc 437 464 8.44e-4 SMART
PLDc 762 789 4.12e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179806
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 93% (37/40)
MGI Phenotype FUNCTION: This gene is a member of the phospholipase D (PLD) superfamily. The encoded protein catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. Phosphatidic acid is an essential intracellular lipid second messenger for many signaling pathways and has been implicated in a variety of physiological processes including cytoskeletal organization and cell proliferation. A similar gene in human may also function as a guanine nucleotide exchange factor (GEF) for the small GTPase Rac2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out fail to exhibit Abeta42 suppression of LTP and show altered brain phosphatidic acid levels. Mice homozygous for a different knock-out allele show normal platelet function, hemostasis and thrombus formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,299,305 (GRCm39) probably benign Het
Anpep T C 7: 79,490,966 (GRCm39) T209A probably benign Het
Asb16 A G 11: 102,163,357 (GRCm39) T116A probably benign Het
Brd10 G T 19: 29,696,275 (GRCm39) Q1140K probably benign Het
Btc A T 5: 91,524,768 (GRCm39) probably benign Het
C4b T C 17: 34,954,717 (GRCm39) D860G possibly damaging Het
Cd177 G A 7: 24,457,468 (GRCm39) T191I possibly damaging Het
Cngb1 A G 8: 95,986,758 (GRCm39) L378P probably damaging Het
Ddx60 T C 8: 62,490,122 (GRCm39) F1697S probably damaging Het
Dop1a G A 9: 86,403,138 (GRCm39) S1446N probably damaging Het
Fn1 T A 1: 71,688,443 (GRCm39) K154* probably null Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Ifi204 T A 1: 173,583,559 (GRCm39) R220* probably null Het
Limk1 A G 5: 134,708,335 (GRCm39) probably benign Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mms22l T A 4: 24,496,929 (GRCm39) S8T possibly damaging Het
Mpp7 T A 18: 7,403,345 (GRCm39) R322* probably null Het
Mycbp2 T C 14: 103,412,386 (GRCm39) N2529S probably benign Het
Npr3 A G 15: 11,883,449 (GRCm39) F327L probably damaging Het
Or12j3 A T 7: 139,952,748 (GRCm39) Y258* probably null Het
Or14c41 T G 7: 86,235,400 (GRCm39) F306V probably benign Het
Or14c46 T C 7: 85,918,857 (GRCm39) T47A probably damaging Het
Or51f5 A T 7: 102,424,052 (GRCm39) H107L probably benign Het
Or5p1 T C 7: 107,916,499 (GRCm39) S133P probably benign Het
Or6c217 A T 10: 129,737,781 (GRCm39) V266E probably damaging Het
Or7e177 T C 9: 20,211,963 (GRCm39) S157P possibly damaging Het
Scart2 A T 7: 139,879,682 (GRCm39) D990V probably benign Het
Sik3 A G 9: 46,066,707 (GRCm39) E162G probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spen T C 4: 141,244,238 (GRCm39) T266A unknown Het
Tnks1bp1 A G 2: 84,894,182 (GRCm39) S1370G probably benign Het
Usp28 A G 9: 48,914,395 (GRCm39) R99G probably null Het
Vmn2r13 T G 5: 109,319,644 (GRCm39) E445D probably benign Het
Vmn2r27 A G 6: 124,201,342 (GRCm39) I205T possibly damaging Het
Other mutations in Pld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Pld2 APN 11 70,442,006 (GRCm39) nonsense probably null
IGL01094:Pld2 APN 11 70,432,132 (GRCm39) missense probably damaging 0.99
IGL01696:Pld2 APN 11 70,433,606 (GRCm39) missense probably damaging 1.00
IGL02165:Pld2 APN 11 70,446,503 (GRCm39) missense probably damaging 1.00
IGL02477:Pld2 APN 11 70,431,751 (GRCm39) missense possibly damaging 0.60
IGL02712:Pld2 APN 11 70,447,905 (GRCm39) missense probably benign 0.44
IGL03013:Pld2 APN 11 70,432,003 (GRCm39) missense probably damaging 1.00
R0117:Pld2 UTSW 11 70,448,214 (GRCm39) missense probably benign 0.19
R0130:Pld2 UTSW 11 70,445,174 (GRCm39) missense probably benign
R0508:Pld2 UTSW 11 70,443,368 (GRCm39) missense probably damaging 0.98
R0973:Pld2 UTSW 11 70,447,907 (GRCm39) missense probably damaging 1.00
R0973:Pld2 UTSW 11 70,447,907 (GRCm39) missense probably damaging 1.00
R0974:Pld2 UTSW 11 70,447,907 (GRCm39) missense probably damaging 1.00
R1907:Pld2 UTSW 11 70,435,010 (GRCm39) missense probably damaging 0.99
R2087:Pld2 UTSW 11 70,433,786 (GRCm39) missense probably damaging 1.00
R2181:Pld2 UTSW 11 70,433,815 (GRCm39) missense possibly damaging 0.70
R3772:Pld2 UTSW 11 70,434,949 (GRCm39) unclassified probably benign
R3949:Pld2 UTSW 11 70,444,180 (GRCm39) missense probably benign
R4028:Pld2 UTSW 11 70,445,731 (GRCm39) missense probably damaging 1.00
R4029:Pld2 UTSW 11 70,445,731 (GRCm39) missense probably damaging 1.00
R4160:Pld2 UTSW 11 70,432,253 (GRCm39) missense probably damaging 1.00
R4428:Pld2 UTSW 11 70,432,160 (GRCm39) missense probably damaging 1.00
R4595:Pld2 UTSW 11 70,432,846 (GRCm39) missense probably damaging 1.00
R4945:Pld2 UTSW 11 70,446,524 (GRCm39) missense probably damaging 1.00
R5280:Pld2 UTSW 11 70,443,585 (GRCm39) missense probably damaging 1.00
R5659:Pld2 UTSW 11 70,448,387 (GRCm39) makesense probably null
R5773:Pld2 UTSW 11 70,446,758 (GRCm39) missense probably damaging 1.00
R5900:Pld2 UTSW 11 70,446,888 (GRCm39) critical splice donor site probably null
R6249:Pld2 UTSW 11 70,446,196 (GRCm39) missense probably damaging 1.00
R6362:Pld2 UTSW 11 70,445,501 (GRCm39) missense probably damaging 1.00
R6746:Pld2 UTSW 11 70,431,933 (GRCm39) missense probably damaging 0.96
R6922:Pld2 UTSW 11 70,444,273 (GRCm39) missense probably benign 0.02
R7213:Pld2 UTSW 11 70,444,198 (GRCm39) missense probably benign 0.02
R7754:Pld2 UTSW 11 70,443,695 (GRCm39) critical splice donor site probably null
R8122:Pld2 UTSW 11 70,432,259 (GRCm39) nonsense probably null
R8383:Pld2 UTSW 11 70,442,255 (GRCm39) missense possibly damaging 0.93
R8489:Pld2 UTSW 11 70,445,121 (GRCm39) missense probably damaging 0.99
R8675:Pld2 UTSW 11 70,445,713 (GRCm39) missense probably null 0.97
R8709:Pld2 UTSW 11 70,444,275 (GRCm39) missense probably damaging 1.00
R8802:Pld2 UTSW 11 70,446,824 (GRCm39) missense probably damaging 0.98
R9124:Pld2 UTSW 11 70,431,696 (GRCm39) missense probably damaging 0.97
R9273:Pld2 UTSW 11 70,448,234 (GRCm39) missense probably benign 0.03
R9606:Pld2 UTSW 11 70,445,893 (GRCm39) nonsense probably null
R9617:Pld2 UTSW 11 70,447,944 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTACACGGAGTAGCTGCC -3'
(R):5'- AGGTACTCTCAGGGAAGAGC -3'

Sequencing Primer
(F):5'- AGTAGCTGCCAGGGACCTTG -3'
(R):5'- TACTCTCAGGGAAGAGCAGGGAG -3'
Posted On 2014-11-11