Incidental Mutation 'R7284:Pld1'
ID 565849
Institutional Source Beutler Lab
Gene Symbol Pld1
Ensembl Gene ENSMUSG00000027695
Gene Name phospholipase D1
Synonyms Pld1a, Pld1b
MMRRC Submission 045392-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7284 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 27992844-28187511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28185882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1036 (T1036A)
Ref Sequence ENSEMBL: ENSMUSP00000113810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067757] [ENSMUST00000120834] [ENSMUST00000123539]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000067757
AA Change: T1036A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: T1036A

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 possibly damaging
Transcript: ENSMUST00000120834
AA Change: T1036A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: T1036A

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: T1074A
SMART Domains Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: T1074A

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 benign
Transcript: ENSMUST00000126594
SMART Domains Protein: ENSMUSP00000121569
Gene: ENSMUSG00000027695

DomainStartEndE-ValueType
PLDc 74 101 1.34e-6 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: T870A

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: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G T 7: 12,246,605 (GRCm39) E34* probably null Het
4933421I07Rik C T 7: 42,097,404 (GRCm39) R30H probably damaging Het
AB124611 C A 9: 21,450,400 (GRCm39) Q158K probably benign Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Abcc9 A T 6: 142,628,643 (GRCm39) L367Q probably damaging Het
Aftph T C 11: 20,676,812 (GRCm39) K266E probably benign Het
Akap9 T A 5: 4,006,246 (GRCm39) D190E probably damaging Het
Angel1 G T 12: 86,767,298 (GRCm39) D359E probably damaging Het
Ano6 T C 15: 95,846,184 (GRCm39) I474T probably damaging Het
Atp2c1 A T 9: 105,398,008 (GRCm39) probably null Het
Best1 T C 19: 9,963,737 (GRCm39) probably null Het
Bhlha9 A G 11: 76,563,492 (GRCm39) S40G probably benign Het
Cabin1 G A 10: 75,530,668 (GRCm39) R178C Het
Ccnb1ip1 A G 14: 51,029,736 (GRCm39) Y109H probably damaging Het
Col14a1 T C 15: 55,381,715 (GRCm39) S1763P probably damaging Het
Dars1 T C 1: 128,300,004 (GRCm39) T327A probably benign Het
Dhx8 T C 11: 101,645,648 (GRCm39) Y889H probably damaging Het
Dlg4 T A 11: 69,932,908 (GRCm39) Y523* probably null Het
Dnah10 A T 5: 124,909,662 (GRCm39) D4484V probably benign Het
Dnah9 A T 11: 65,881,302 (GRCm39) M2591K probably damaging Het
Dock2 T C 11: 34,180,672 (GRCm39) E1715G probably benign Het
Dym A G 18: 75,252,242 (GRCm39) Y336C possibly damaging Het
Ezh2 A G 6: 47,521,453 (GRCm39) M439T probably benign Het
Folr1 T G 7: 101,508,677 (GRCm39) N83H possibly damaging Het
Ganab T C 19: 8,889,904 (GRCm39) L656P probably damaging Het
Gmnc T C 16: 26,779,542 (GRCm39) H161R probably benign Het
Gria4 A G 9: 4,472,017 (GRCm39) Y491H probably damaging Het
Heatr3 T A 8: 88,883,402 (GRCm39) C412S possibly damaging Het
Hmgcr A C 13: 96,789,173 (GRCm39) V716G probably damaging Het
Igsf9 A G 1: 172,324,479 (GRCm39) D799G probably damaging Het
Ikbkb T C 8: 23,158,976 (GRCm39) T501A probably benign Het
Kbtbd3 C T 9: 4,330,690 (GRCm39) R355* probably null Het
Kcna7 T A 7: 45,058,652 (GRCm39) I313N probably damaging Het
Kirrel1 A C 3: 86,990,694 (GRCm39) D709E probably benign Het
Klb T A 5: 65,540,821 (GRCm39) S971R probably benign Het
Krtap4-13 A T 11: 99,700,238 (GRCm39) C140* probably null Het
Lacc1 A T 14: 77,268,309 (GRCm39) L334Q probably damaging Het
Map6d1 T A 16: 20,059,775 (GRCm39) R97* probably null Het
Mgat5b T C 11: 116,835,746 (GRCm39) S129P probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Myh9 G A 15: 77,671,796 (GRCm39) R432C probably damaging Het
Ncf4 A G 15: 78,144,902 (GRCm39) T236A probably benign Het
Neb T C 2: 52,148,804 (GRCm39) D2581G probably damaging Het
Nid1 T A 13: 13,663,675 (GRCm39) M778K probably benign Het
Npas2 A G 1: 39,363,548 (GRCm39) D209G probably benign Het
Nploc4 C T 11: 120,307,196 (GRCm39) V181I possibly damaging Het
Nrcam A T 12: 44,610,817 (GRCm39) I506F probably damaging Het
Or52w1 T A 7: 105,017,752 (GRCm39) M73K probably damaging Het
Or5h27 A G 16: 59,006,331 (GRCm39) *172Q probably null Het
Or6c3b T C 10: 129,527,220 (GRCm39) N230S probably benign Het
Pask T A 1: 93,248,391 (GRCm39) Q970L probably benign Het
Pfkfb4 T C 9: 108,840,308 (GRCm39) I308T possibly damaging Het
Pla2g4d A T 2: 120,114,617 (GRCm39) L38Q probably damaging Het
Pom121l2 A G 13: 22,166,775 (GRCm39) T349A probably damaging Het
Ppp1r13b A G 12: 111,801,400 (GRCm39) I551T possibly damaging Het
Prps1l1 A G 12: 35,035,317 (GRCm39) N144S possibly damaging Het
Prss56 A G 1: 87,113,123 (GRCm39) N179S probably null Het
Prune2 T C 19: 17,097,250 (GRCm39) L918P probably damaging Het
Ptprz1 C T 6: 23,000,097 (GRCm39) T729I probably damaging Het
Relch T A 1: 105,662,308 (GRCm39) H942Q probably benign Het
Rrp7a T C 15: 83,006,071 (GRCm39) T60A probably damaging Het
Snx27 A G 3: 94,431,498 (GRCm39) Y299H probably damaging Het
Spaca3 G T 11: 80,754,847 (GRCm39) R96L possibly damaging Het
Stat1 A G 1: 52,188,081 (GRCm39) N495S probably benign Het
Tas2r130 T C 6: 131,607,270 (GRCm39) N175S probably benign Het
Tcaf2 A G 6: 42,606,472 (GRCm39) L494P probably damaging Het
Tdrd12 C A 7: 35,179,561 (GRCm39) probably null Het
Thbs1 A G 2: 117,949,837 (GRCm39) N604S probably damaging Het
Togaram1 T C 12: 65,055,454 (GRCm39) F1482L probably benign Het
Trhr2 A T 8: 123,087,114 (GRCm39) S109T probably damaging Het
Trpc3 A T 3: 36,678,562 (GRCm39) M841K probably damaging Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Xirp2 T A 2: 67,347,173 (GRCm39) M3138K probably benign Het
Zdhhc4 G A 5: 143,307,646 (GRCm39) T125I probably benign Het
Zfp239 T A 6: 117,848,716 (GRCm39) C151* probably null Het
Zfp473 C T 7: 44,382,627 (GRCm39) E569K not run Het
Zzef1 T A 11: 72,777,516 (GRCm39) D1782E probably damaging 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
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'- TCTTAACAGGTCTTCCGGTGC -3'
(R):5'- CCAGTGTCCTTATATCAGGGTG -3'

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