Incidental Mutation 'R2235:Pld3'
ID 240391
Institutional Source Beutler Lab
Gene Symbol Pld3
Ensembl Gene ENSMUSG00000003363
Gene Name phospholipase D family member 3
Synonyms Sam-9
MMRRC Submission 040236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2235 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 27231425-27252643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 27240532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 136 (T136M)
Ref Sequence ENSEMBL: ENSMUSP00000112942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117095] [ENSMUST00000117611] [ENSMUST00000127240] [ENSMUST00000131106] [ENSMUST00000150964]
AlphaFold O35405
Predicted Effect probably benign
Transcript: ENSMUST00000117095
AA Change: T136M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363
AA Change: T136M

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: T136M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363
AA Change: T136M

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 noncoding transcript
Transcript: ENSMUST00000142981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143903
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,619,023 (GRCm39) V256A probably benign Het
Acbd6 A G 1: 155,434,454 (GRCm39) D24G probably damaging Het
Adcy2 A T 13: 68,816,611 (GRCm39) Y792N probably damaging Het
Alpk1 T C 3: 127,474,569 (GRCm39) K478R probably benign Het
Atad2b T G 12: 5,056,745 (GRCm39) F867C probably damaging Het
Bach1 A G 16: 87,517,001 (GRCm39) D514G probably damaging Het
BC035947 A T 1: 78,474,599 (GRCm39) D644E probably damaging Het
Chrm4 A G 2: 91,758,875 (GRCm39) S428G probably benign Het
Clca3a1 G T 3: 144,714,829 (GRCm39) P596Q possibly damaging Het
Cldn34b3 A T X: 75,310,830 (GRCm39) I133F probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Csta1 C T 16: 35,945,445 (GRCm39) V23I probably damaging Het
Cts6 T A 13: 61,343,247 (GRCm39) I325F probably damaging Het
Dnah6 T C 6: 73,077,068 (GRCm39) D2347G probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
E2f4 T A 8: 106,025,283 (GRCm39) V121E probably damaging Het
Fhip1a A T 3: 85,568,408 (GRCm39) L1037Q probably damaging Het
Fndc11 A G 2: 180,864,067 (GRCm39) S291G possibly damaging Het
Hid1 A G 11: 115,241,945 (GRCm39) I555T probably damaging Het
Hyou1 C T 9: 44,300,388 (GRCm39) T855M probably benign Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Itprid1 A T 6: 55,874,797 (GRCm39) H249L possibly damaging Het
Kcnab1 T A 3: 65,226,888 (GRCm39) V189D probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc49 A T 9: 60,505,440 (GRCm39) F538L possibly damaging Het
Ly6h A G 15: 75,437,038 (GRCm39) S113P probably benign Het
Mto1 A C 9: 78,364,846 (GRCm39) T362P possibly damaging Het
Myot A G 18: 44,487,339 (GRCm39) D392G probably damaging Het
Or10a3 A G 7: 108,480,172 (GRCm39) F214L probably benign Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Osbpl6 T C 2: 76,417,113 (GRCm39) F577L probably damaging Het
Otc A G X: 10,169,606 (GRCm39) Q216R probably benign Het
Pds5a A T 5: 65,811,441 (GRCm39) F331I probably damaging Het
Prph2 A T 17: 47,222,092 (GRCm39) D157V probably damaging Het
Racgap1 A G 15: 99,524,417 (GRCm39) S357P probably benign Het
Ralgapa1 A T 12: 55,763,856 (GRCm39) H1403Q probably benign Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sel1l2 T C 2: 140,086,085 (GRCm39) Y502C probably damaging Het
Sis A T 3: 72,820,527 (GRCm39) F1412L probably benign Het
Slc4a11 T C 2: 130,527,544 (GRCm39) E617G probably benign Het
Smap1 T C 1: 23,898,139 (GRCm39) N99S probably benign Het
Smg7 A T 1: 152,744,064 (GRCm39) Y40N probably damaging Het
Sox4 C T 13: 29,136,613 (GRCm39) R131Q probably damaging Het
Spaca6 T C 17: 18,058,507 (GRCm39) probably null Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Thap4 G T 1: 93,652,934 (GRCm39) Q441K probably benign Het
Tmprss11c G T 5: 86,429,945 (GRCm39) T40K probably benign Het
Tpr T A 1: 150,317,843 (GRCm39) F2117Y probably benign Het
Traf5 T C 1: 191,738,806 (GRCm39) M125V probably damaging Het
Trim65 G T 11: 116,021,503 (GRCm39) T110K possibly damaging Het
Ubp1 T G 9: 113,793,712 (GRCm39) S340R probably damaging Het
Vit T C 17: 78,912,867 (GRCm39) S267P probably benign Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Zfp990 T A 4: 145,264,461 (GRCm39) H486Q probably damaging Het
Zkscan6 T C 11: 65,719,098 (GRCm39) S373P probably benign 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
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
R9292:Pld3 UTSW 7 27,238,879 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCCTTGACACTCAGAGACTTCC -3'
(R):5'- TCTATACCTTCAGGGCGGTG -3'

Sequencing Primer
(F):5'- ACCCTTACTTCAGAAGTGTGTG -3'
(R):5'- GCTGGTGGAGAGCATTCC -3'
Posted On 2014-10-15