Incidental Mutation 'R0974:Pld2'
ID 83034
Institutional Source Beutler Lab
Gene Symbol Pld2
Ensembl Gene ENSMUSG00000020828
Gene Name phospholipase D2
Synonyms
MMRRC Submission 039103-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R0974 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70430890-70448936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70447907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 857 (W857R)
Ref Sequence ENSEMBL: ENSMUSP00000104197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018429] [ENSMUST00000108557]
AlphaFold P97813
Predicted Effect probably damaging
Transcript: ENSMUST00000018429
AA Change: W846R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: W846R

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 damaging
Transcript: ENSMUST00000108557
AA Change: W857R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: W857R

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: W107R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179806
Meta Mutation Damage Score 0.9662 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.5%
  • 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,997 (GRCm39) probably null Het
Adam18 T C 8: 25,137,869 (GRCm39) T324A probably benign Het
AI429214 A G 8: 37,461,473 (GRCm39) Q207R probably benign Het
Atp13a1 T C 8: 70,254,794 (GRCm39) probably null Het
Atp6v0a1 T A 11: 100,946,317 (GRCm39) L770* probably null Het
B3gnt5 T A 16: 19,588,760 (GRCm39) D326E probably damaging Het
Btbd9 T A 17: 30,518,607 (GRCm39) D451V probably damaging Het
Cd46 T C 1: 194,724,300 (GRCm39) *366W probably null Het
Cdcp3 T C 7: 130,839,911 (GRCm39) L611P probably damaging Het
Cenpc1 A T 5: 86,185,767 (GRCm39) V248E probably damaging Het
Chd2 A G 7: 73,128,412 (GRCm39) S858P probably damaging Het
Cxcl1 A T 5: 91,039,626 (GRCm39) K85* probably null Het
Daam1 A C 12: 71,962,558 (GRCm39) K90T unknown Het
Dip2c G A 13: 9,626,944 (GRCm39) A632T probably damaging Het
Dmtf1 T A 5: 9,177,987 (GRCm39) I391F possibly damaging Het
Dnah14 T C 1: 181,579,710 (GRCm39) V3081A probably damaging Het
Dnah9 A T 11: 65,896,663 (GRCm39) probably null Het
Efemp1 A G 11: 28,804,538 (GRCm39) E22G probably damaging Het
Ephb6 A G 6: 41,591,038 (GRCm39) D65G probably damaging Het
Fsip2 A T 2: 82,807,436 (GRCm39) T1252S probably benign Het
Golga4 T C 9: 118,366,341 (GRCm39) I365T probably damaging Het
Gp2 A T 7: 119,053,766 (GRCm39) L65Q probably damaging Het
Ice1 C A 13: 70,750,546 (GRCm39) V1847L probably benign Het
Kbtbd7 A G 14: 79,664,870 (GRCm39) E234G possibly damaging Het
Khsrp T C 17: 57,332,576 (GRCm39) T235A probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Lrfn5 G A 12: 61,890,223 (GRCm39) G504D probably damaging Het
Map6 G A 7: 98,985,950 (GRCm39) G821D possibly damaging Het
Myh13 T A 11: 67,223,346 (GRCm39) I222N probably damaging Het
Myh7b G A 2: 155,462,347 (GRCm39) C350Y probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Olfm3 C A 3: 114,895,635 (GRCm39) S172R probably benign Het
Or13e8 A G 4: 43,696,706 (GRCm39) S156P probably damaging Het
Or1j14 A G 2: 36,418,020 (GRCm39) I199V probably benign Het
Or4c1 A T 2: 89,133,528 (GRCm39) I136N probably damaging Het
Or5d40 A T 2: 88,015,322 (GRCm39) T34S probably benign Het
Pacs1 A T 19: 5,193,857 (GRCm39) D557E probably damaging Het
Phactr2 T C 10: 13,122,883 (GRCm39) D343G possibly damaging Het
Pkd2l2 A G 18: 34,561,305 (GRCm39) T438A probably damaging Het
Rilpl1 A G 5: 124,639,951 (GRCm39) I122T possibly damaging Het
Rilpl1 A G 5: 124,639,934 (GRCm39) S156P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Saxo2 A G 7: 82,284,078 (GRCm39) V260A probably benign Het
Slc33a1 A G 3: 63,850,725 (GRCm39) F533S probably benign Het
Slc38a4 C T 15: 96,903,739 (GRCm39) V421M probably benign Het
Snx14 A G 9: 88,282,774 (GRCm39) probably null Het
Sri A T 5: 8,109,381 (GRCm39) Q55L probably damaging Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Tmco5 A G 2: 116,713,699 (GRCm39) T122A probably benign Het
Tmem59l G A 8: 70,938,710 (GRCm39) P124S possibly damaging Het
Trpv6 T A 6: 41,602,122 (GRCm39) T396S probably benign Het
Usp24 T A 4: 106,228,276 (GRCm39) Y780* probably null Het
Usp24 A G 4: 106,270,875 (GRCm39) probably null Het
Utp25 A T 1: 192,797,011 (GRCm39) N573K probably damaging Het
Vmn2r53 A G 7: 12,335,319 (GRCm39) F114L probably damaging Het
Zfp626 G A 7: 27,517,907 (GRCm39) R296H 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
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
Predicted Primers PCR Primer
(F):5'- AGGATAATCAAAGCTCCAGCAGGC -3'
(R):5'- AGATGTCCTCCCAAAGGATCGAAGG -3'

Sequencing Primer
(F):5'- AGGCTTGATGATACTTCCTGTTC -3'
(R):5'- GGAAGAGTTAGGATCATTATGTCCCC -3'
Posted On 2013-11-08