Incidental Mutation 'R1705:Pld1'
ID 190004
Institutional Source Beutler Lab
Gene Symbol Pld1
Ensembl Gene ENSMUSG00000027695
Gene Name phospholipase D1
Synonyms Pld1a, Pld1b
MMRRC Submission 039738-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1705 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 27992844-28187511 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 28125426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000067757] [ENSMUST00000120834] [ENSMUST00000123539] [ENSMUST00000123539]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000067757
SMART Domains Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695

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 null
Transcript: ENSMUST00000120834
SMART Domains Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695

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 null
Transcript: ENSMUST00000123539
SMART Domains Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695

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 probably null
Transcript: ENSMUST00000123539
SMART Domains Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695

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 noncoding transcript
Transcript: ENSMUST00000131842
Predicted Effect probably null
Transcript: ENSMUST00000148827
SMART Domains Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695

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
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 90% (43/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apaf1 A G 10: 90,903,133 (GRCm39) probably benign Het
C1ql2 A G 1: 120,270,271 (GRCm39) T278A probably damaging Het
Card14 A G 11: 119,229,232 (GRCm39) H714R possibly damaging Het
Catsperd T C 17: 56,940,521 (GRCm39) F69S probably damaging Het
Cep250 A G 2: 155,805,706 (GRCm39) E105G probably damaging Het
Coil A G 11: 88,864,962 (GRCm39) Y63C probably damaging Het
Cox14 A G 15: 99,625,559 (GRCm39) probably null Het
Defa24 T C 8: 22,224,617 (GRCm39) I22T probably damaging Het
F5 T C 1: 164,045,059 (GRCm39) Y2116H possibly damaging Het
Faf1 C T 4: 109,534,199 (GRCm39) probably benign Het
Hectd4 A G 5: 121,436,167 (GRCm39) S1026G probably benign Het
Hgf A T 5: 16,820,800 (GRCm39) H649L probably benign Het
Hmces T C 6: 87,910,283 (GRCm39) V231A probably damaging Het
Kcnh4 A G 11: 100,632,598 (GRCm39) V963A probably benign Het
Ltbp1 T C 17: 75,692,196 (GRCm39) probably null Het
Meox2 G A 12: 37,217,493 (GRCm39) probably benign Het
Mis18bp1 A C 12: 65,196,113 (GRCm39) S550R probably benign Het
Nap1l4 A T 7: 143,095,497 (GRCm39) M1K probably null Het
Nav1 G T 1: 135,512,337 (GRCm39) T241N probably damaging Het
Nbeal2 A G 9: 110,454,264 (GRCm39) W2694R probably damaging Het
Or11g2 A T 14: 50,856,579 (GRCm39) H300L probably benign Het
Or2b6 C A 13: 21,823,331 (GRCm39) D121Y probably damaging Het
Or4c52 A T 2: 89,845,855 (GRCm39) I194F possibly damaging Het
Phaf1 T C 8: 105,965,104 (GRCm39) probably benign Het
Podn T C 4: 107,875,055 (GRCm39) R164G probably benign Het
Qrfprl A T 6: 65,433,290 (GRCm39) H370L probably benign Het
R3hdm1 T A 1: 128,162,821 (GRCm39) L966Q probably damaging Het
Rasef A T 4: 73,662,301 (GRCm39) Y369* probably null Het
Ryr1 A T 7: 28,777,989 (GRCm39) V2176E probably damaging Het
Sec14l2 A G 11: 4,053,980 (GRCm39) L229P possibly damaging Het
Sec23a T C 12: 59,048,652 (GRCm39) S157G possibly damaging Het
Slit2 T A 5: 48,346,814 (GRCm39) W219R probably damaging Het
Smarcad1 G A 6: 65,033,400 (GRCm39) E128K probably damaging Het
Stk31 A T 6: 49,400,318 (GRCm39) N381I possibly damaging Het
Svop A G 5: 114,180,356 (GRCm39) Y264H probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Ush2a T A 1: 188,607,066 (GRCm39) I3987N probably damaging Het
Ush2a T A 1: 188,643,738 (GRCm39) S4367T probably benign Het
Vdr A T 15: 97,765,052 (GRCm39) V229D probably damaging Het
Ywhaz G T 15: 36,790,959 (GRCm39) T88K possibly damaging Het
Zc3h10 A T 10: 128,380,672 (GRCm39) C228* probably null 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
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
R7293:Pld1 UTSW 3 28,141,435 (GRCm39) missense probably damaging 0.99
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'- ACTTTCAGGCATTGGTCTCTGCAC -3'
(R):5'- GCCACGGATGCAAAATAAAGGCTAC -3'

Sequencing Primer
(F):5'- tttttcctgactccacctcc -3'
(R):5'- TCAGGAAAGTGTTCAATAGCAAC -3'
Posted On 2014-05-14