Incidental Mutation 'R5900:Pld2'
ID 456282
Institutional Source Beutler Lab
Gene Symbol Pld2
Ensembl Gene ENSMUSG00000020828
Gene Name phospholipase D2
Synonyms
MMRRC Submission 044099-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R5900 (G1)
Quality Score 201
Status Not validated
Chromosome 11
Chromosomal Location 70430890-70448936 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 70446888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000018429] [ENSMUST00000108557]
AlphaFold P97813
Predicted Effect probably null
Transcript: ENSMUST00000018429
SMART Domains Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828

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 null
Transcript: ENSMUST00000108557
SMART Domains Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828

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 null
Transcript: ENSMUST00000130678
Predicted Effect probably null
Transcript: ENSMUST00000130678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179806
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.9%
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
Abca5 T A 11: 110,169,982 (GRCm39) T1341S possibly damaging Het
Abcc12 T C 8: 87,293,149 (GRCm39) D13G possibly damaging Het
Adam24 T C 8: 41,134,071 (GRCm39) V513A probably benign Het
Adgrg6 C T 10: 14,314,163 (GRCm39) probably null Het
Ankrd11 T C 8: 123,617,805 (GRCm39) T1995A probably benign Het
Apoh G T 11: 108,302,843 (GRCm39) K269N probably damaging Het
Bahcc1 C T 11: 120,175,319 (GRCm39) L1798F probably damaging Het
Brca2 T A 5: 150,464,597 (GRCm39) C1454S probably benign Het
Clip2 T C 5: 134,531,633 (GRCm39) D689G possibly damaging Het
Cpa5 T C 6: 30,615,115 (GRCm39) V84A probably damaging Het
Ctsh T C 9: 89,946,621 (GRCm39) I116T probably damaging Het
Dlg5 T A 14: 24,199,515 (GRCm39) E1463V probably damaging Het
Dnah11 C T 12: 118,046,166 (GRCm39) probably null Het
Dstyk G A 1: 132,384,717 (GRCm39) R737Q probably damaging Het
Galr1 A G 18: 82,411,982 (GRCm39) S295P probably damaging Het
Gpx2 A G 12: 76,839,653 (GRCm39) V115A probably damaging Het
Hhipl2 A G 1: 183,207,597 (GRCm39) I219V possibly damaging Het
Hkdc1 T C 10: 62,244,445 (GRCm39) M214V possibly damaging Het
Lrfn2 T C 17: 49,377,291 (GRCm39) V124A possibly damaging Het
Lrrcc1 T G 3: 14,627,186 (GRCm39) S704R possibly damaging Het
Marveld2 T C 13: 100,748,176 (GRCm39) Y301C probably damaging Het
Mcpt8 T C 14: 56,319,740 (GRCm39) I237V probably damaging Het
Mtus1 A T 8: 41,536,534 (GRCm39) V394D possibly damaging Het
Ncapd3 T A 9: 26,978,265 (GRCm39) D821E probably benign Het
Pcdh9 T C 14: 93,564,156 (GRCm39) D1058G probably damaging Het
Prdm2 A G 4: 142,861,290 (GRCm39) S667P probably damaging Het
Ptgdr2 A T 19: 10,918,352 (GRCm39) probably null Het
Rfx7 C T 9: 72,524,538 (GRCm39) T576I probably benign Het
Safb T C 17: 56,907,349 (GRCm39) C426R unknown Het
Serpina9 G A 12: 103,975,130 (GRCm39) R8* probably null Het
Shank3 G A 15: 89,387,593 (GRCm39) R254Q probably damaging Het
Simc1 T C 13: 54,694,837 (GRCm39) V306A probably damaging Het
Srfbp1 A G 18: 52,621,853 (GRCm39) T305A probably benign Het
Tdrd5 A T 1: 156,105,005 (GRCm39) C463* probably null Het
Tmem132d A T 5: 128,346,336 (GRCm39) L62Q probably damaging Het
Trank1 T A 9: 111,220,784 (GRCm39) L2507H probably damaging Het
Usp45 T C 4: 21,830,451 (GRCm39) V702A probably damaging Het
Wnk2 A G 13: 49,256,308 (GRCm39) I271T probably damaging Het
Zfp292 A T 4: 34,805,125 (GRCm39) L2640I probably damaging Het
Znrf3 G T 11: 5,232,110 (GRCm39) H468N probably 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
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
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'- TGCCCTTGAACCCAGGTT -3'
(R):5'- CCCAGCCCTGACTTTGATGTTTTAA -3'

Sequencing Primer
(F):5'- GGTTCTGCGAACATCAATGAC -3'
(R):5'- TATAACTCAAAAGGCAGCCC -3'
Posted On 2017-02-15