Incidental Mutation 'R9292:Pld3'
ID 704333
Institutional Source Beutler Lab
Gene Symbol Pld3
Ensembl Gene ENSMUSG00000003363
Gene Name phospholipase D family member 3
Synonyms Sam-9
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9292 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 27231425-27252643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27238879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 190 (M190V)
Ref Sequence ENSEMBL: ENSMUSP00000113820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117095] [ENSMUST00000117611] [ENSMUST00000127240] [ENSMUST00000131106] [ENSMUST00000150964]
AlphaFold O35405
Predicted Effect probably benign
Transcript: ENSMUST00000117095
AA Change: M190V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363
AA Change: M190V

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
PLDc 194 221 9.25e-10 SMART
Pfam:PLDc_3 224 401 1.6e-43 PFAM
PLDc 409 435 1.19e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117611
AA Change: M190V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363
AA Change: M190V

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
PLDc 194 221 9.25e-10 SMART
low complexity region 285 297 N/A INTRINSIC
PLDc 409 435 1.19e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127240
SMART Domains Protein: ENSMUSP00000115891
Gene: ENSMUSG00000003363

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131106
Predicted Effect probably benign
Transcript: ENSMUST00000150964
SMART Domains Protein: ENSMUSP00000122897
Gene: ENSMUSG00000003363

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,862,843 (GRCm39) T175I probably benign Het
Acat3 T C 17: 13,146,255 (GRCm39) T243A probably benign Het
Aebp1 C A 11: 5,815,260 (GRCm39) P264Q possibly damaging Het
Aldh1l1 T C 6: 90,568,867 (GRCm39) F723L probably damaging Het
Atp13a4 T A 16: 29,241,500 (GRCm39) I723F Het
Bop1 T C 15: 76,351,031 (GRCm39) T97A probably benign Het
Casq1 T C 1: 172,043,114 (GRCm39) Y194C probably damaging Het
Cep250 G A 2: 155,832,688 (GRCm39) E1538K probably damaging Het
Col12a1 A T 9: 79,585,805 (GRCm39) V1218E probably benign Het
Coq10b T A 1: 55,110,868 (GRCm39) M212K probably damaging Het
Dchs1 T C 7: 105,403,120 (GRCm39) T3141A probably damaging Het
Dnajc10 A G 2: 80,176,916 (GRCm39) T624A probably benign Het
Dock8 A G 19: 25,160,995 (GRCm39) probably benign Het
Dsg1c T A 18: 20,416,775 (GRCm39) V892E probably damaging Het
Eif4g3 A G 4: 137,921,382 (GRCm39) R1370G possibly damaging Het
Elmo1 T G 13: 20,784,429 (GRCm39) probably null Het
Erc2 T A 14: 27,498,799 (GRCm39) I225N probably damaging Het
Ermp1 C A 19: 29,606,049 (GRCm39) V422L probably benign Het
Fam124b T A 1: 80,191,221 (GRCm39) H54L probably benign Het
Gabbr1 T G 17: 37,366,784 (GRCm39) I336S possibly damaging Het
Galk2 T C 2: 125,817,218 (GRCm39) Y336H probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Grm4 A G 17: 27,692,037 (GRCm39) F194S probably damaging Het
Gtf2a1 G A 12: 91,534,964 (GRCm39) Q189* probably null Het
Gtf3c1 T C 7: 125,273,563 (GRCm39) probably benign Het
Hspa2 A G 12: 76,452,047 (GRCm39) E247G probably damaging Het
Lpar1 T C 4: 58,486,558 (GRCm39) R238G probably benign Het
Ltbp1 C A 17: 75,583,436 (GRCm39) S412Y probably damaging Het
Nup210 A C 6: 91,051,235 (GRCm39) S383A possibly damaging Het
Or10j3 C T 1: 173,031,099 (GRCm39) P59S probably damaging Het
Or11g2 T C 14: 50,856,513 (GRCm39) V278A possibly damaging Het
Or8b51 T A 9: 38,569,071 (GRCm39) N206Y probably damaging Het
Pah T A 10: 87,403,218 (GRCm39) Y198N probably damaging Het
Pcdhga4 A T 18: 37,819,713 (GRCm39) I421L probably benign Het
Pde6b T C 5: 108,536,751 (GRCm39) I149T probably benign Het
Peli3 G A 19: 4,988,117 (GRCm39) P81L possibly damaging Het
Pfdn5 T C 15: 102,234,883 (GRCm39) S30P possibly damaging Het
Plcb3 A T 19: 6,942,042 (GRCm39) L263Q probably damaging Het
Rab6a A G 7: 100,285,963 (GRCm39) E186G probably benign Het
Ralyl T A 3: 14,172,312 (GRCm39) D60E probably benign Het
Rtl1 G A 12: 109,556,673 (GRCm39) A1722V possibly damaging Het
Scarf1 T C 11: 75,406,006 (GRCm39) Y97H probably damaging Het
Sf3a2 T A 10: 80,640,560 (GRCm39) V457E unknown Het
Sh2d4b C G 14: 40,537,914 (GRCm39) E403Q probably damaging Het
Slc12a7 A G 13: 73,932,707 (GRCm39) E65G possibly damaging Het
Spink5 T C 18: 44,148,075 (GRCm39) V905A possibly damaging Het
Spred1 T C 2: 117,005,832 (GRCm39) F198S probably benign Het
St18 C A 1: 6,898,106 (GRCm39) T636K probably benign Het
Stag3 T A 5: 138,299,712 (GRCm39) D874E probably benign Het
Suco T C 1: 161,671,574 (GRCm39) T502A probably damaging Het
Swt1 T C 1: 151,278,787 (GRCm39) I457V probably benign Het
Syne2 G T 12: 75,997,823 (GRCm39) C2266F probably benign Het
Tcirg1 T C 19: 3,947,840 (GRCm39) N532D probably damaging Het
Tfdp1 T A 8: 13,420,580 (GRCm39) N136K probably benign Het
Tmem245 T C 4: 56,926,173 (GRCm39) probably benign Het
Tmem245 T C 4: 56,937,979 (GRCm39) I190V probably benign Het
Trp53bp1 C T 2: 121,046,177 (GRCm39) V1208M probably damaging Het
Tulp1 T A 17: 28,582,738 (GRCm39) K137* probably null Het
Zfp534 A T 4: 147,759,095 (GRCm39) C525S probably damaging Het
Other mutations in Pld3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Pld3 APN 7 27,232,044 (GRCm39) missense probably damaging 1.00
R0624:Pld3 UTSW 7 27,239,000 (GRCm39) missense possibly damaging 0.94
R1384:Pld3 UTSW 7 27,237,082 (GRCm39) missense probably benign 0.00
R1845:Pld3 UTSW 7 27,238,877 (GRCm39) missense probably benign 0.01
R2235:Pld3 UTSW 7 27,240,532 (GRCm39) missense probably benign 0.00
R3106:Pld3 UTSW 7 27,235,212 (GRCm39) critical splice donor site probably null
R5141:Pld3 UTSW 7 27,233,220 (GRCm39) missense probably damaging 1.00
R5486:Pld3 UTSW 7 27,233,156 (GRCm39) missense probably damaging 0.99
R5518:Pld3 UTSW 7 27,231,796 (GRCm39) missense probably damaging 1.00
R5868:Pld3 UTSW 7 27,237,093 (GRCm39) missense probably benign 0.00
R6446:Pld3 UTSW 7 27,237,156 (GRCm39) missense probably damaging 1.00
R6591:Pld3 UTSW 7 27,231,741 (GRCm39) missense probably benign 0.00
R6691:Pld3 UTSW 7 27,231,741 (GRCm39) missense probably benign 0.00
R6823:Pld3 UTSW 7 27,235,322 (GRCm39) missense probably damaging 1.00
R7162:Pld3 UTSW 7 27,231,899 (GRCm39) missense probably damaging 1.00
R8150:Pld3 UTSW 7 27,232,086 (GRCm39) missense probably damaging 1.00
R8725:Pld3 UTSW 7 27,239,079 (GRCm39) nonsense probably null
R8795:Pld3 UTSW 7 27,235,286 (GRCm39) missense possibly damaging 0.52
R9049:Pld3 UTSW 7 27,235,293 (GRCm39) missense possibly damaging 0.71
R9096:Pld3 UTSW 7 27,232,089 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TCTGGGTAGCTGCTAACAGG -3'
(R):5'- AAAGGTTCGCATCGCTGTG -3'

Sequencing Primer
(F):5'- GTAGCTGCTAACAGGACCCAG -3'
(R):5'- TTCGCATCGCTGTGAGCAAAC -3'
Posted On 2022-03-25