Incidental Mutation 'R8725:Pld3'
ID 673182
Institutional Source Beutler Lab
Gene Symbol Pld3
Ensembl Gene ENSMUSG00000003363
Gene Name phospholipase D family member 3
Synonyms Sam-9
MMRRC Submission 068574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8725 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27231425-27252643 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 27239079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 149 (Q149*)
Ref Sequence ENSEMBL: ENSMUSP00000113820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117095] [ENSMUST00000117611] [ENSMUST00000127240] [ENSMUST00000131106] [ENSMUST00000150964]
AlphaFold O35405
Predicted Effect probably null
Transcript: ENSMUST00000117095
AA Change: Q149*
SMART Domains Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363
AA Change: Q149*

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 null
Transcript: ENSMUST00000117611
AA Change: Q149*
SMART Domains Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363
AA Change: Q149*

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
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,287,075 (GRCm39) W69R probably damaging Het
Adamtsl4 C T 3: 95,584,426 (GRCm39) R990Q possibly damaging Het
Ahdc1 T A 4: 132,792,743 (GRCm39) V1328E possibly damaging Het
Bpifb2 A G 2: 153,731,356 (GRCm39) H244R possibly damaging Het
Camk1 C A 6: 113,315,109 (GRCm39) V199L probably damaging Het
Ccdc18 A T 5: 108,328,283 (GRCm39) K661I possibly damaging Het
Cdh16 C T 8: 105,344,874 (GRCm39) V444I probably benign Het
Cep295 A T 9: 15,243,715 (GRCm39) Y1580* probably null Het
Cntnap5c A T 17: 58,362,663 (GRCm39) N339Y probably damaging Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Deup1 T A 9: 15,503,721 (GRCm39) D280V probably damaging Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Evpl T A 11: 116,113,019 (GRCm39) D1557V probably benign Het
Ext1 A G 15: 53,208,065 (GRCm39) V232A possibly damaging Het
Gdpd5 T C 7: 99,105,726 (GRCm39) I514T possibly damaging Het
Gm14443 A T 2: 175,010,693 (GRCm39) C584* probably null Het
Gm2696 T A 10: 77,672,034 (GRCm39) C78S unknown Het
Gm4131 T C 14: 62,701,300 (GRCm39) D276G possibly damaging Het
Gm5114 C T 7: 39,060,657 (GRCm39) G64D probably benign Het
Gsx2 G T 5: 75,236,755 (GRCm39) A112S probably benign Het
Hebp1 G T 6: 135,114,919 (GRCm39) R181S probably damaging Het
Hectd4 G A 5: 121,488,557 (GRCm39) G3616D probably damaging Het
Hemgn T G 4: 46,394,638 (GRCm39) T491P probably benign Het
Idh2 TCCCAGGGCC TCC 7: 79,748,079 (GRCm39) probably null Het
Itsn1 T C 16: 91,636,721 (GRCm39) S723P unknown Het
Kat6a G A 8: 23,398,293 (GRCm39) G287D probably damaging Het
Ktn1 T G 14: 47,907,757 (GRCm39) probably benign Het
Lrrc56 C A 7: 140,778,246 (GRCm39) D79E possibly damaging Het
Lrrn1 C T 6: 107,544,303 (GRCm39) Q34* probably null Het
Mlxipl A G 5: 135,157,483 (GRCm39) M340V probably benign Het
Mroh6 T C 15: 75,756,563 (GRCm39) T604A possibly damaging Het
Or13a26 G T 7: 140,284,607 (GRCm39) V148L probably benign Het
Or1n1 T A 2: 36,749,610 (GRCm39) Y250F probably damaging Het
Or4c122 A T 2: 89,079,658 (GRCm39) S115T probably benign Het
Palb2 A C 7: 121,710,884 (GRCm39) V1022G unknown Het
Pank1 T G 19: 34,855,989 (GRCm39) H163P possibly damaging Het
Pcdha12 A G 18: 37,154,736 (GRCm39) Q485R probably benign Het
Pcdhb15 T A 18: 37,608,734 (GRCm39) S655R probably damaging Het
Pcdhgb1 T A 18: 37,814,467 (GRCm39) C319* probably null Het
Pipox A T 11: 77,774,804 (GRCm39) L93* probably null Het
Pkd1l1 A C 11: 8,911,482 (GRCm39) V265G Het
Pramel34 A T 5: 93,784,316 (GRCm39) Y383N probably damaging Het
Prpf3 T A 3: 95,748,021 (GRCm39) T415S possibly damaging Het
Rasgef1b G A 5: 99,447,895 (GRCm39) T105I unknown Het
Rere G T 4: 150,701,792 (GRCm39) E24* probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Ric3 A T 7: 108,637,924 (GRCm39) D277E probably benign Het
Rnf44 A T 13: 54,831,826 (GRCm39) M82K probably damaging Het
Rsph14 T C 10: 74,795,516 (GRCm39) N223S probably benign Het
Rusc2 A G 4: 43,415,396 (GRCm39) E234G probably damaging Het
Scfd2 T C 5: 74,642,900 (GRCm39) N349S probably benign Het
Sema3d G A 5: 12,555,822 (GRCm39) C183Y probably damaging Het
Setd2 T C 9: 110,402,912 (GRCm39) I74T Het
Slc39a12 T C 2: 14,454,670 (GRCm39) S563P probably damaging Het
Slc9a8 A T 2: 167,315,454 (GRCm39) D526V probably damaging Het
Smpdl3b G T 4: 132,461,060 (GRCm39) T339N probably damaging Het
Speer1e A T 5: 11,236,408 (GRCm39) Q147L probably benign Het
Spi1 G A 2: 90,945,516 (GRCm39) G199D probably damaging Het
Stx2 T C 5: 129,070,564 (GRCm39) T118A probably damaging Het
Synj2 C A 17: 6,088,015 (GRCm39) S1355R possibly damaging Het
Taf15 A G 11: 83,389,964 (GRCm39) T245A probably benign Het
Tnrc6b C T 15: 80,760,653 (GRCm39) A120V probably damaging Het
Usp19 G T 9: 108,370,934 (GRCm39) G198W probably damaging Het
Wdtc1 G T 4: 133,041,114 (GRCm39) H46N probably damaging Het
Zbtb1 C A 12: 76,432,646 (GRCm39) R211S probably damaging Het
Zc3h8 A G 2: 128,775,207 (GRCm39) V151A probably benign Het
Zfp219 T C 14: 52,244,899 (GRCm39) T499A possibly damaging Het
Zfp689 A G 7: 127,047,940 (GRCm39) F31L probably damaging Het
Zfp879 C T 11: 50,729,321 (GRCm39) D26N 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
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
R9292:Pld3 UTSW 7 27,238,879 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTCAGCTTCTGCATGTCCAC -3'
(R):5'- GTATCTGAGTTCCATCCCCAG -3'

Sequencing Primer
(F):5'- TCCACCATGCGGACCTG -3'
(R):5'- GTTCCATCCCCAGCACCAC -3'
Posted On 2021-04-30