Incidental Mutation 'IGL02712:Pld2'
ID 304614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pld2
Ensembl Gene ENSMUSG00000020828
Gene Name phospholipase D2
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.315) question?
Stock # IGL02712
Quality Score
Status
Chromosome 11
Chromosomal Location 70540064-70558110 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 70557079 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 856 (L856R)
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: L845R

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: L845R

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: L856R

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: L856R

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 unknown
Transcript: ENSMUST00000130678
AA Change: L106R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179806
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angel1 A G 12: 86,722,839 probably benign Het
Arhgef33 T A 17: 80,360,373 V289D probably damaging Het
BC003331 A G 1: 150,386,356 probably null Het
Cabp5 A G 7: 13,403,346 M93V probably damaging Het
Ces1a A C 8: 93,036,040 V201G probably damaging Het
Cisd1 A G 10: 71,336,351 F34L probably benign Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Ddx39 A G 8: 83,721,757 I213V probably benign Het
Ddx59 A T 1: 136,439,781 N542I probably benign Het
Dytn T C 1: 63,664,422 T233A probably benign Het
Fbxo7 A G 10: 86,024,438 T49A possibly damaging Het
Fmnl2 C A 2: 53,036,498 probably benign Het
Golga2 G T 2: 32,304,213 K610N probably damaging Het
Hipk4 T C 7: 27,528,635 Y269H probably damaging Het
Ifi209 T C 1: 173,642,701 V285A possibly damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map3k13 T G 16: 21,905,255 V329G probably damaging Het
Mrm3 T C 11: 76,243,857 W29R possibly damaging Het
Nos1ap T C 1: 170,329,251 I213V possibly damaging Het
Nphp4 C T 4: 152,556,275 T1033M probably damaging Het
Nr5a2 T C 1: 136,940,528 probably null Het
Nrcam A G 12: 44,573,827 Y885C probably damaging Het
Olfr23 T C 11: 73,940,930 V228A probably benign Het
Olfr983 T C 9: 40,092,786 H60R probably damaging Het
Ovgp1 T A 3: 105,986,513 probably benign Het
Pdzd2 T C 15: 12,376,027 S1341G probably benign Het
Plod1 A G 4: 147,918,887 F494L possibly damaging Het
Pnkd T A 1: 74,349,868 S233T possibly damaging Het
Rnf144b T C 13: 47,239,779 I198T probably damaging Het
Rsc1a1 G T 4: 141,685,065 Q179K probably benign Het
Slc5a10 C T 11: 61,707,806 W249* probably null Het
Slc9a3r1 T C 11: 115,177,234 V200A possibly damaging Het
Spata32 T G 11: 103,208,147 probably benign Het
Stk4 T A 2: 164,096,897 H228Q probably damaging Het
Szt2 T A 4: 118,384,833 Q1592L probably benign Het
Tnc T A 4: 63,975,256 I1598F probably damaging Het
Togaram2 A T 17: 71,704,754 D476V probably benign Het
Ttll6 T G 11: 96,139,775 probably benign Het
Vmn2r118 A G 17: 55,592,655 S750P probably benign Het
Zswim5 C T 4: 116,985,695 T879I probably damaging Het
Other mutations in Pld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Pld2 APN 11 70551180 nonsense probably null
IGL01094:Pld2 APN 11 70541306 missense probably damaging 0.99
IGL01696:Pld2 APN 11 70542780 missense probably damaging 1.00
IGL02165:Pld2 APN 11 70555677 missense probably damaging 1.00
IGL02477:Pld2 APN 11 70540925 missense possibly damaging 0.60
IGL03013:Pld2 APN 11 70541177 missense probably damaging 1.00
R0117:Pld2 UTSW 11 70557388 missense probably benign 0.19
R0130:Pld2 UTSW 11 70554348 missense probably benign
R0508:Pld2 UTSW 11 70552542 missense probably damaging 0.98
R0973:Pld2 UTSW 11 70557081 missense probably damaging 1.00
R0973:Pld2 UTSW 11 70557081 missense probably damaging 1.00
R0974:Pld2 UTSW 11 70557081 missense probably damaging 1.00
R1907:Pld2 UTSW 11 70544184 missense probably damaging 0.99
R2087:Pld2 UTSW 11 70542960 missense probably damaging 1.00
R2181:Pld2 UTSW 11 70542989 missense possibly damaging 0.70
R2379:Pld2 UTSW 11 70554314 missense probably benign 0.01
R3772:Pld2 UTSW 11 70544123 unclassified probably benign
R3949:Pld2 UTSW 11 70553354 missense probably benign
R4028:Pld2 UTSW 11 70554905 missense probably damaging 1.00
R4029:Pld2 UTSW 11 70554905 missense probably damaging 1.00
R4160:Pld2 UTSW 11 70541427 missense probably damaging 1.00
R4428:Pld2 UTSW 11 70541334 missense probably damaging 1.00
R4595:Pld2 UTSW 11 70542020 missense probably damaging 1.00
R4945:Pld2 UTSW 11 70555698 missense probably damaging 1.00
R5280:Pld2 UTSW 11 70552759 missense probably damaging 1.00
R5659:Pld2 UTSW 11 70557561 makesense probably null
R5773:Pld2 UTSW 11 70555932 missense probably damaging 1.00
R5900:Pld2 UTSW 11 70556062 critical splice donor site probably null
R6249:Pld2 UTSW 11 70555370 missense probably damaging 1.00
R6362:Pld2 UTSW 11 70554675 missense probably damaging 1.00
R6746:Pld2 UTSW 11 70541107 missense probably damaging 0.96
R6922:Pld2 UTSW 11 70553447 missense probably benign 0.02
R7213:Pld2 UTSW 11 70553372 missense probably benign 0.02
R7754:Pld2 UTSW 11 70552869 critical splice donor site probably null
R8122:Pld2 UTSW 11 70541433 nonsense probably null
R8383:Pld2 UTSW 11 70551429 missense possibly damaging 0.93
R8489:Pld2 UTSW 11 70554295 missense probably damaging 0.99
R8675:Pld2 UTSW 11 70554887 missense probably null 0.97
R8709:Pld2 UTSW 11 70553449 missense probably damaging 1.00
R8802:Pld2 UTSW 11 70555998 missense probably damaging 0.98
R9124:Pld2 UTSW 11 70540870 missense probably damaging 0.97
R9273:Pld2 UTSW 11 70557408 missense probably benign 0.03
R9606:Pld2 UTSW 11 70555067 nonsense probably null
R9617:Pld2 UTSW 11 70557118 missense probably damaging 1.00
Posted On 2015-04-16