Incidental Mutation 'R9124:Pld2'
ID 693122
Institutional Source Beutler Lab
Gene Symbol Pld2
Ensembl Gene ENSMUSG00000020828
Gene Name phospholipase D2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R9124 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70430890-70448936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70431696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 9 (F9L)
Ref Sequence ENSEMBL: ENSMUSP00000104197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018429] [ENSMUST00000108556] [ENSMUST00000108557] [ENSMUST00000157075]
AlphaFold P97813
Predicted Effect probably damaging
Transcript: ENSMUST00000018429
AA Change: F9L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: F9L

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: ENSMUST00000108556
AA Change: F9L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104196
Gene: ENSMUSG00000020828
AA Change: F9L

DomainStartEndE-ValueType
PX 64 192 2.12e-20 SMART
PH 203 313 4.75e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108557
AA Change: F9L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: F9L

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 damaging
Transcript: ENSMUST00000157075
AA Change: F9L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (91/91)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,792,679 (GRCm39) N89K possibly damaging Het
Abca5 A T 11: 110,189,005 (GRCm39) D817E possibly damaging Het
Abca8b G A 11: 109,828,593 (GRCm39) S1435F probably damaging Het
Akap9 T C 5: 4,111,284 (GRCm39) L3115P probably damaging Het
Arhgap39 G A 15: 76,619,467 (GRCm39) R706W probably damaging Het
Atp5mk T C 19: 47,074,578 (GRCm39) M28V probably benign Het
BC061237 A T 14: 44,740,851 (GRCm39) I84F possibly damaging Het
Bhlhe22 T C 3: 18,109,342 (GRCm39) S131P probably damaging Het
Brinp1 C A 4: 68,747,582 (GRCm39) D174Y probably damaging Het
Bsdc1 A G 4: 129,359,068 (GRCm39) T40A probably benign Het
Ccdc65 A T 15: 98,618,863 (GRCm39) K281* probably null Het
Cd22 T C 7: 30,572,662 (GRCm39) I316V probably benign Het
Cdhr18 A G 14: 13,864,354 (GRCm38) F324S Het
Cfap100 A C 6: 90,386,330 (GRCm39) I275S Het
Chd3 T G 11: 69,260,162 (GRCm39) E19A unknown Het
Chrnb1 T C 11: 69,685,057 (GRCm39) D91G probably benign Het
Cr1l A G 1: 194,799,925 (GRCm39) S250P possibly damaging Het
Csmd1 A G 8: 16,034,806 (GRCm39) V2455A probably damaging Het
Dbp C T 7: 45,357,818 (GRCm39) R229C probably damaging Het
Dmxl1 C G 18: 50,072,639 (GRCm39) N2744K probably damaging Het
Dnah6 C A 6: 73,098,882 (GRCm39) V2058F possibly damaging Het
Dsp T A 13: 38,377,276 (GRCm39) V1687D probably benign Het
Dtd1 T A 2: 144,445,798 (GRCm39) M45K possibly damaging Het
Fat1 T A 8: 45,403,363 (GRCm39) F38Y probably benign Het
Fat1 T A 8: 45,478,064 (GRCm39) V2370E possibly damaging Het
Fgfr1 T A 8: 26,060,185 (GRCm39) D438E probably damaging Het
Fsip2 A T 2: 82,816,103 (GRCm39) K3945N probably benign Het
Galc C A 12: 98,220,423 (GRCm39) probably null Het
Git1 C A 11: 77,395,498 (GRCm39) D398E possibly damaging Het
Gm4924 A G 10: 82,214,875 (GRCm39) Q891R unknown Het
Gpc2 T C 5: 138,274,784 (GRCm39) probably benign Het
Havcr2 C T 11: 46,360,388 (GRCm39) T205I probably benign Het
Herc2 A G 7: 55,834,056 (GRCm39) N3087S probably damaging Het
Ifi204 C T 1: 173,579,193 (GRCm39) probably null Het
Imp4 C T 1: 34,479,128 (GRCm39) R4W unknown Het
Itfg2 A G 6: 128,401,770 (GRCm39) S3P probably damaging Het
Kcnn3 C T 3: 89,428,536 (GRCm39) T254I possibly damaging Het
Kics2 C T 10: 121,586,416 (GRCm39) Q244* probably null Het
Kpna1 A G 16: 35,853,644 (GRCm39) I425V probably benign Het
Krt23 A T 11: 99,383,755 (GRCm39) S46T probably damaging Het
Loxl4 C A 19: 42,596,099 (GRCm39) W118L probably damaging Het
Lrrc37 T C 11: 103,509,721 (GRCm39) Y749C unknown Het
Lysmd2 T A 9: 75,533,075 (GRCm39) L10Q probably damaging Het
Mcm5 T A 8: 75,851,418 (GRCm39) probably benign Het
Mctp2 T A 7: 71,909,178 (GRCm39) D45V probably damaging Het
Mdfic2 T A 6: 98,318,899 (GRCm39) N22I possibly damaging Het
Mfsd10 T C 5: 34,791,940 (GRCm39) T341A probably benign Het
Micu1 T A 10: 59,586,335 (GRCm39) L170Q probably damaging Het
Msantd5 T C 11: 51,125,481 (GRCm39) S135P probably benign Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Myo15a A T 11: 60,369,952 (GRCm39) Q904L probably benign Het
Myo6 G A 9: 80,195,353 (GRCm39) D908N unknown Het
Nlrp4e A T 7: 23,020,403 (GRCm39) M297L probably benign Het
Nptn A G 9: 58,558,498 (GRCm39) probably benign Het
Oas3 A C 5: 120,912,170 (GRCm39) D73E probably damaging Het
Or12j5 T A 7: 140,084,222 (GRCm39) H50L probably benign Het
Or52z14 A T 7: 103,252,863 (GRCm39) M1L probably benign Het
Or6d13 A T 6: 116,517,416 (GRCm39) M1L probably null Het
Or6n1 T C 1: 173,917,341 (GRCm39) L245P probably damaging Het
Pck1 C G 2: 172,997,018 (GRCm39) A220G probably benign Het
Pigq G A 17: 26,156,233 (GRCm39) T65I probably damaging Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Pnkd A G 1: 74,386,602 (GRCm39) R138G possibly damaging Het
Ralgapa1 A T 12: 55,781,881 (GRCm39) I781N probably damaging Het
Ranbp2 A G 10: 58,328,719 (GRCm39) I2873V probably benign Het
Rpn2 C A 2: 157,139,458 (GRCm39) Q283K probably benign Het
Shmt2 A G 10: 127,355,561 (GRCm39) S178P possibly damaging Het
Shroom3 A G 5: 93,112,401 (GRCm39) K1921E probably benign Het
Slc20a1 A G 2: 129,051,142 (GRCm39) S600G probably damaging Het
Slco1a7 A G 6: 141,668,830 (GRCm39) V534A possibly damaging Het
Slit1 C T 19: 41,594,951 (GRCm39) V1140I probably benign Het
Sncg T C 14: 34,095,640 (GRCm39) S51G possibly damaging Het
Spon2 C A 5: 33,372,935 (GRCm39) D256Y possibly damaging Het
Srcap G T 7: 127,159,874 (GRCm39) R3250L unknown Het
Sun1 T G 5: 139,231,121 (GRCm39) Y763* probably null Het
Synj1 A T 16: 90,735,513 (GRCm39) F1480Y probably benign Het
Tbc1d30 T A 10: 121,132,716 (GRCm39) N216I probably damaging Het
Tent2 A T 13: 93,284,160 (GRCm39) L465* probably null Het
Tgfb1 A T 7: 25,388,580 (GRCm39) K39* probably null Het
Tmem87a A G 2: 120,224,841 (GRCm39) probably null Het
Tmem8b C A 4: 43,681,982 (GRCm39) R452S probably benign Het
Tnfsf13b A G 8: 10,056,966 (GRCm39) I42V probably benign Het
Trpc2 A G 7: 101,745,090 (GRCm39) T769A possibly damaging Het
Ttc3 A G 16: 94,236,389 (GRCm39) T1033A probably benign Het
Ttll13 C T 7: 79,906,751 (GRCm39) A473V probably damaging Het
U2surp G A 9: 95,346,468 (GRCm39) R908* probably null Het
Ube2s A G 7: 4,814,510 (GRCm39) Y17H probably damaging Het
Vmn1r94 A T 7: 19,901,509 (GRCm39) M265K probably benign Het
Vmn2r23 T C 6: 123,719,038 (GRCm39) I797T possibly damaging Het
Yipf3 A T 17: 46,559,895 (GRCm39) E70D probably benign Het
Zcchc14 G A 8: 122,331,969 (GRCm39) P465S unknown Het
Zfp169 T C 13: 48,644,557 (GRCm39) E190G unknown Het
Zfp707 T C 15: 75,845,468 (GRCm39) S111P Het
Zfp738 T C 13: 67,819,457 (GRCm39) E178G possibly damaging Het
Zfr A T 15: 12,136,757 (GRCm39) N138I unknown 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
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
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'- CTGAGAGGCTCTGGTTGAAG -3'
(R):5'- ATGCATTCGATCAGCTGGGAG -3'

Sequencing Primer
(F):5'- AGGCTCTGGTTGAAGGCTGG -3'
(R):5'- CAACCCAAGGGTGTAAAG -3'
Posted On 2022-01-20