Incidental Mutation 'R7213:Pld2'
ID 561232
Institutional Source Beutler Lab
Gene Symbol Pld2
Ensembl Gene ENSMUSG00000020828
Gene Name phospholipase D2
Synonyms
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70430890-70448936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70444198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 498 (D498G)
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: D498G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: D498G

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: D498G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: D498G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S 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
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
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'- TTTCAGAGGCTCCAAGCTAC -3'
(R):5'- AAGGCAGCACTGTTCCTGG -3'

Sequencing Primer
(F):5'- GAAGGATTTCAAGTTTATGGCCAGCC -3'
(R):5'- GCACTGTTCCTGGCCCATTTC -3'
Posted On 2019-06-26