Incidental Mutation 'IGL01094:Pld2'
ID 52271
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: 0.308) question?
Stock # IGL01094
Quality Score
Status
Chromosome 11
Chromosomal Location 70430890-70448936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70432132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 84 (C84R)
Ref Sequence ENSEMBL: ENSMUSP00000104196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018429] [ENSMUST00000108556] [ENSMUST00000108557] [ENSMUST00000157075]
AlphaFold P97813
Predicted Effect possibly damaging
Transcript: ENSMUST00000018429
AA Change: C84R

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: C84R

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 noncoding transcript
Transcript: ENSMUST00000100943
Predicted Effect probably damaging
Transcript: ENSMUST00000108556
AA Change: C84R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104196
Gene: ENSMUSG00000020828
AA Change: C84R

DomainStartEndE-ValueType
PX 64 192 2.12e-20 SMART
PH 203 313 4.75e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108557
AA Change: C84R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: C84R

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: ENSMUST00000157075
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,612,508 (GRCm39) H80Q probably damaging Het
Ahi1 A G 10: 20,847,959 (GRCm39) N456D probably damaging Het
Alpk2 T G 18: 65,439,673 (GRCm39) E573D probably damaging Het
Axin2 G A 11: 108,814,501 (GRCm39) V130M probably damaging Het
Cadm4 T C 7: 24,202,184 (GRCm39) L341P possibly damaging Het
Col20a1 G A 2: 180,641,559 (GRCm39) C625Y probably damaging Het
Col6a3 T G 1: 90,731,655 (GRCm39) I1533L possibly damaging Het
Dusp10 A T 1: 183,769,697 (GRCm39) probably null Het
Dysf T A 6: 84,171,368 (GRCm39) I1837N probably damaging Het
Fbxw19 A G 9: 109,322,614 (GRCm39) S119P probably benign Het
Il22ra1 C A 4: 135,478,395 (GRCm39) P489T possibly damaging Het
Il7r A T 15: 9,508,085 (GRCm39) N412K possibly damaging Het
Kdr A T 5: 76,122,420 (GRCm39) Y502N probably benign Het
Med12l T A 3: 59,001,076 (GRCm39) L713H probably damaging Het
Nfxl1 A G 5: 72,707,771 (GRCm39) probably benign Het
Or4a70 A G 2: 89,324,182 (GRCm39) V158A probably benign Het
Piezo1 T A 8: 123,208,877 (GRCm39) E2495D probably damaging Het
Pkhd1l1 T C 15: 44,410,325 (GRCm39) F2611L probably benign Het
Prss3l A G 6: 41,420,357 (GRCm39) V123A possibly damaging Het
Scfd2 G T 5: 74,691,707 (GRCm39) P192T possibly damaging Het
Tm4sf19 A G 16: 32,224,772 (GRCm39) N40S possibly damaging Het
Tmc2 T C 2: 130,102,086 (GRCm39) probably benign Het
Tmem217 T C 17: 29,745,566 (GRCm39) R55G probably benign Het
Unc80 A G 1: 66,734,592 (GRCm39) D3205G possibly damaging Het
Vps13c A G 9: 67,793,566 (GRCm39) N440D probably damaging Het
Wdr35 T C 12: 9,055,838 (GRCm39) probably benign Het
Zfp110 T A 7: 12,583,723 (GRCm39) H790Q probably damaging Het
Other mutations in Pld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Pld2 APN 11 70,442,006 (GRCm39) nonsense probably null
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
R2379:Pld2 UTSW 11 70,445,140 (GRCm39) missense probably benign 0.01
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
Posted On 2013-06-21