Incidental Mutation 'R7293:Pld1'
ID 566533
Institutional Source Beutler Lab
Gene Symbol Pld1
Ensembl Gene ENSMUSG00000027695
Gene Name phospholipase D1
Synonyms Pld1a, Pld1b
MMRRC Submission 045398-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7293 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 27992844-28187511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28141435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 666 (T666K)
Ref Sequence ENSEMBL: ENSMUSP00000113810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067757] [ENSMUST00000120834] [ENSMUST00000123539]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000067757
AA Change: T666K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: T666K

DomainStartEndE-ValueType
PX 79 209 7.97e-25 SMART
PH 220 330 5.71e-9 SMART
PLDc 459 486 6.6e-6 SMART
low complexity region 503 517 N/A INTRINSIC
low complexity region 575 589 N/A INTRINSIC
PLDc 853 880 1.34e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120834
AA Change: T666K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: T666K

DomainStartEndE-ValueType
PX 79 209 7.97e-25 SMART
PH 220 330 5.71e-9 SMART
PLDc 459 486 6.6e-6 SMART
low complexity region 503 517 N/A INTRINSIC
low complexity region 575 589 N/A INTRINSIC
PLDc 853 880 1.34e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000123539
AA Change: T704K
SMART Domains Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: T704K

DomainStartEndE-ValueType
PX 79 209 7.97e-25 SMART
PH 220 330 5.71e-9 SMART
PLDc 459 486 6.6e-6 SMART
low complexity region 503 517 N/A INTRINSIC
low complexity region 575 586 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: T477K

DomainStartEndE-ValueType
PH 32 142 5.71e-9 SMART
PLDc 271 298 6.6e-6 SMART
low complexity region 315 329 N/A INTRINSIC
low complexity region 387 401 N/A INTRINSIC
PLDc 665 715 2.5e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a null allele show reduced tumor growth and angiogenesis. Homozygotes for a second null allele show abnormal hepatic autophagy after food restriction. Homozygotes for a third null allele show altered platelet activation and protection from thrombosis and ischemic brain injury. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,795,492 (GRCm39) G416E probably damaging Het
Acsl5 G T 19: 55,279,642 (GRCm39) W460L probably damaging Het
Adam2 A G 14: 66,272,634 (GRCm39) F614S probably benign Het
Adamts5 G A 16: 85,696,833 (GRCm39) T108I probably benign Het
Agmat C T 4: 141,483,246 (GRCm39) Q227* probably null Het
Alg11 A G 8: 22,555,395 (GRCm39) N219D probably damaging Het
Amhr2 A G 15: 102,355,828 (GRCm39) T258A probably benign Het
Ankrd53 A G 6: 83,740,178 (GRCm39) E82G probably null Het
Blzf1 T A 1: 164,123,452 (GRCm39) T292S possibly damaging Het
Capza1 T C 3: 104,748,151 (GRCm39) D71G probably benign Het
Cc2d1b T C 4: 108,488,873 (GRCm39) F770L probably benign Het
Cckbr A T 7: 105,083,852 (GRCm39) Q260L probably benign Het
Cep162 T C 9: 87,085,836 (GRCm39) T1163A probably benign Het
Chd9 T C 8: 91,760,707 (GRCm39) S2151P unknown Het
Clk1 T A 1: 58,453,772 (GRCm39) T301S probably benign Het
Cmya5 T A 13: 93,229,305 (GRCm39) S1928C possibly damaging Het
Col24a1 C T 3: 145,192,059 (GRCm39) Q1273* probably null Het
Col4a4 T C 1: 82,501,664 (GRCm39) D363G unknown Het
Copb1 A T 7: 113,818,837 (GRCm39) M827K probably damaging Het
Crocc C T 4: 140,770,867 (GRCm39) A351T probably benign Het
Crybg1 T C 10: 43,879,428 (GRCm39) T587A probably damaging Het
Csrnp3 A G 2: 65,779,344 (GRCm39) R19G probably damaging Het
Cyb5rl T C 4: 106,938,143 (GRCm39) I165T probably damaging Het
Dnah1 A T 14: 31,009,820 (GRCm39) I1916N probably damaging Het
Dvl1 T C 4: 155,940,625 (GRCm39) M415T possibly damaging Het
Dync2h1 A G 9: 7,001,454 (GRCm39) S3845P possibly damaging Het
Eif3b A G 5: 140,405,183 (GRCm39) Q23R probably benign Het
Esam G T 9: 37,449,020 (GRCm39) R376L probably damaging Het
Fat3 G C 9: 15,826,336 (GRCm39) H391D Het
Fat3 A C 9: 15,826,592 (GRCm39) S305R Het
Fgd3 T C 13: 49,418,134 (GRCm39) D644G probably benign Het
Fgf7 T C 2: 125,877,672 (GRCm39) L13P probably damaging Het
Gas2l1 A G 11: 5,014,338 (GRCm39) Y41H probably damaging Het
Glg1 A T 8: 111,895,375 (GRCm39) I812N probably damaging Het
Glp1r C T 17: 31,143,599 (GRCm39) H212Y probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gpr158 G A 2: 21,581,750 (GRCm39) V410I possibly damaging Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Itgb2l A C 16: 96,227,996 (GRCm39) Y502* probably null Het
Jakmip1 G A 5: 37,284,817 (GRCm39) V635I probably benign Het
Kplce A T 3: 92,776,126 (GRCm39) C186S probably benign Het
Krt23 C T 11: 99,374,682 (GRCm39) M270I probably benign Het
Larp1b C T 3: 40,939,879 (GRCm39) A344V Het
Lin28b T C 10: 45,295,282 (GRCm39) M134V probably benign Het
Lrrc19 T A 4: 94,526,627 (GRCm39) Y310F probably benign Het
Lyst T A 13: 13,854,822 (GRCm39) D2397E probably benign Het
Map6 A G 7: 98,985,740 (GRCm39) N751S possibly damaging Het
Mgrn1 G A 16: 4,750,084 (GRCm39) D494N probably benign Het
Myh6 A G 14: 55,184,631 (GRCm39) F1567L probably benign Het
Myo9b T C 8: 71,778,549 (GRCm39) V461A probably benign Het
Ncan A T 8: 70,567,861 (GRCm39) S84T probably damaging Het
Nlrp9a G A 7: 26,270,694 (GRCm39) C908Y probably damaging Het
Or4c3 A T 2: 89,851,871 (GRCm39) Y180N probably damaging Het
Or4f4b A G 2: 111,313,699 (GRCm39) probably null Het
Or52n20 T A 7: 104,319,925 (GRCm39) N5K probably damaging Het
Or8g31-ps1 A T 9: 39,276,130 (GRCm39) M92L probably benign Het
Parp4 CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC 14: 56,885,303 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,588,068 (GRCm39) Y1107C probably damaging Het
Pramel7 A C 2: 87,322,706 (GRCm39) N19K probably benign Het
Prh1 C G 6: 132,548,721 (GRCm39) P76R unknown Het
Prkd2 T C 7: 16,579,865 (GRCm39) V121A possibly damaging Het
Ptprq G A 10: 107,471,367 (GRCm39) Q1345* probably null Het
Ryr3 T A 2: 112,732,948 (GRCm39) T653S probably benign Het
Sall2 G T 14: 52,551,868 (GRCm39) Y442* probably null Het
Slc23a2 A C 2: 131,931,026 (GRCm39) F158V probably benign Het
Smg1 C A 7: 117,765,322 (GRCm39) R1954L unknown Het
Snx31 G A 15: 36,523,596 (GRCm39) T362I probably damaging Het
Taf3 G T 2: 9,956,901 (GRCm39) T422K probably damaging Het
Tcfl5 T C 2: 180,283,958 (GRCm39) D142G probably benign Het
Tmx1 A G 12: 70,507,325 (GRCm39) T188A probably damaging Het
Tnfrsf11a A G 1: 105,735,866 (GRCm39) probably null Het
Trio A T 15: 27,871,375 (GRCm39) C640S possibly damaging Het
Ulk4 T G 9: 121,084,190 (GRCm39) N427T probably damaging Het
Vmn1r202 T C 13: 22,685,872 (GRCm39) M182V probably benign Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Other mutations in Pld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Pld1 APN 3 28,099,247 (GRCm39) critical splice donor site probably null
IGL01090:Pld1 APN 3 28,142,816 (GRCm39) missense probably benign 0.01
IGL01140:Pld1 APN 3 28,132,386 (GRCm39) missense probably benign 0.01
IGL01646:Pld1 APN 3 28,153,813 (GRCm39) missense probably damaging 1.00
IGL01830:Pld1 APN 3 28,102,153 (GRCm39) splice site probably benign
IGL01946:Pld1 APN 3 28,178,766 (GRCm39) missense probably damaging 1.00
IGL02139:Pld1 APN 3 28,174,961 (GRCm39) missense probably damaging 0.98
IGL02189:Pld1 APN 3 28,174,932 (GRCm39) missense probably benign 0.03
IGL02476:Pld1 APN 3 28,102,188 (GRCm39) missense probably damaging 1.00
IGL02540:Pld1 APN 3 28,083,309 (GRCm39) unclassified probably benign
IGL02649:Pld1 APN 3 28,141,378 (GRCm39) missense probably damaging 0.98
IGL02720:Pld1 APN 3 28,141,411 (GRCm39) missense probably damaging 1.00
IGL02831:Pld1 APN 3 28,130,574 (GRCm39) missense probably damaging 0.99
IGL02953:Pld1 APN 3 28,166,396 (GRCm39) missense probably benign 0.03
IGL03005:Pld1 APN 3 28,141,402 (GRCm39) missense possibly damaging 0.78
IGL03251:Pld1 APN 3 28,142,814 (GRCm39) missense probably benign 0.06
IGL03331:Pld1 APN 3 28,139,994 (GRCm39) missense probably damaging 1.00
A9681:Pld1 UTSW 3 28,139,981 (GRCm39) missense probably benign 0.01
IGL03134:Pld1 UTSW 3 28,083,316 (GRCm39) missense probably benign 0.01
P0023:Pld1 UTSW 3 28,102,274 (GRCm39) missense probably damaging 1.00
R0054:Pld1 UTSW 3 28,150,033 (GRCm39) splice site probably benign
R0054:Pld1 UTSW 3 28,150,033 (GRCm39) splice site probably benign
R0282:Pld1 UTSW 3 28,132,422 (GRCm39) missense probably benign
R0372:Pld1 UTSW 3 28,142,787 (GRCm39) splice site probably null
R0454:Pld1 UTSW 3 28,178,724 (GRCm39) missense probably damaging 1.00
R0492:Pld1 UTSW 3 28,163,966 (GRCm39) missense probably damaging 0.96
R0505:Pld1 UTSW 3 28,174,971 (GRCm39) missense possibly damaging 0.69
R0667:Pld1 UTSW 3 28,133,327 (GRCm39) splice site probably null
R0678:Pld1 UTSW 3 28,174,933 (GRCm39) missense probably damaging 0.99
R0980:Pld1 UTSW 3 28,178,724 (GRCm39) missense probably damaging 1.00
R1200:Pld1 UTSW 3 28,103,435 (GRCm39) missense probably damaging 1.00
R1235:Pld1 UTSW 3 28,082,883 (GRCm39) missense probably benign 0.05
R1657:Pld1 UTSW 3 28,125,336 (GRCm39) missense probably benign 0.04
R1670:Pld1 UTSW 3 28,103,389 (GRCm39) missense probably benign 0.17
R1705:Pld1 UTSW 3 28,125,426 (GRCm39) critical splice donor site probably null
R1815:Pld1 UTSW 3 28,163,917 (GRCm39) missense probably benign 0.04
R2215:Pld1 UTSW 3 28,132,542 (GRCm39) missense probably benign 0.16
R3435:Pld1 UTSW 3 28,178,772 (GRCm39) missense probably benign 0.13
R3522:Pld1 UTSW 3 28,085,396 (GRCm39) missense probably damaging 1.00
R4206:Pld1 UTSW 3 28,174,932 (GRCm39) missense probably benign 0.03
R4553:Pld1 UTSW 3 28,178,851 (GRCm39) missense probably benign
R4612:Pld1 UTSW 3 28,185,882 (GRCm39) missense possibly damaging 0.92
R4623:Pld1 UTSW 3 28,083,393 (GRCm39) missense probably benign 0.01
R4840:Pld1 UTSW 3 28,130,700 (GRCm39) missense probably benign 0.10
R4869:Pld1 UTSW 3 28,163,951 (GRCm39) missense possibly damaging 0.84
R4982:Pld1 UTSW 3 28,085,447 (GRCm39) missense probably damaging 0.97
R5087:Pld1 UTSW 3 28,178,731 (GRCm39) missense probably damaging 1.00
R5182:Pld1 UTSW 3 28,099,230 (GRCm39) missense probably damaging 1.00
R5384:Pld1 UTSW 3 28,079,469 (GRCm39) missense probably damaging 1.00
R6243:Pld1 UTSW 3 28,149,954 (GRCm39) missense probably damaging 0.98
R6345:Pld1 UTSW 3 28,184,896 (GRCm39) intron probably benign
R6692:Pld1 UTSW 3 28,095,348 (GRCm39) missense probably benign 0.15
R6881:Pld1 UTSW 3 28,132,563 (GRCm39) missense possibly damaging 0.77
R7197:Pld1 UTSW 3 28,078,401 (GRCm39) missense probably damaging 1.00
R7267:Pld1 UTSW 3 28,130,550 (GRCm39) missense probably damaging 1.00
R7284:Pld1 UTSW 3 28,185,882 (GRCm39) missense possibly damaging 0.92
R7440:Pld1 UTSW 3 28,095,419 (GRCm39) missense probably benign 0.01
R7524:Pld1 UTSW 3 28,078,470 (GRCm39) missense possibly damaging 0.77
R7747:Pld1 UTSW 3 28,141,338 (GRCm39) missense possibly damaging 0.66
R7882:Pld1 UTSW 3 28,099,158 (GRCm39) missense probably damaging 1.00
R7936:Pld1 UTSW 3 28,130,651 (GRCm39) missense probably damaging 1.00
R8033:Pld1 UTSW 3 28,083,359 (GRCm39) missense probably benign 0.02
R8269:Pld1 UTSW 3 28,079,388 (GRCm39) missense probably benign 0.17
R8316:Pld1 UTSW 3 28,078,361 (GRCm39) missense probably benign
R8427:Pld1 UTSW 3 28,142,795 (GRCm39) missense probably damaging 0.97
R8523:Pld1 UTSW 3 28,140,025 (GRCm39) missense probably damaging 1.00
R8832:Pld1 UTSW 3 28,177,846 (GRCm39) missense
R8850:Pld1 UTSW 3 28,166,439 (GRCm39) missense possibly damaging 0.88
R9143:Pld1 UTSW 3 28,132,643 (GRCm39) intron probably benign
R9549:Pld1 UTSW 3 28,125,381 (GRCm39) missense possibly damaging 0.89
R9648:Pld1 UTSW 3 28,174,900 (GRCm39) missense probably damaging 0.99
Z1088:Pld1 UTSW 3 28,083,392 (GRCm39) missense probably benign
Z1176:Pld1 UTSW 3 28,185,726 (GRCm39) nonsense probably null
Z1176:Pld1 UTSW 3 28,130,682 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGTGTTTCTGTCCCTGTCAC -3'
(R):5'- TCCCTCTGCATCCAAAGCTG -3'

Sequencing Primer
(F):5'- TCCCTGTCACCAAACTTAAAAATAGG -3'
(R):5'- TCCAAAGCTGTTTATCATAATACCCC -3'
Posted On 2019-06-26