Incidental Mutation 'R0454:Pld1'
ID 39842
Institutional Source Beutler Lab
Gene Symbol Pld1
Ensembl Gene ENSMUSG00000027695
Gene Name phospholipase D1
Synonyms Pld1a, Pld1b
MMRRC Submission 038654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0454 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 27992844-28187511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28178724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 873 (S873P)
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: S873P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: S873P

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: S873P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: S873P

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: S911P
SMART Domains Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: S911P

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 unknown
Transcript: ENSMUST00000126594
AA Change: S93P
SMART Domains Protein: ENSMUSP00000121569
Gene: ENSMUSG00000027695
AA Change: S93P

DomainStartEndE-ValueType
PLDc 74 101 1.34e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000148827
AA Change: S707P
SMART Domains Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: S707P

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.8%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik T C X: 65,347,274 (GRCm39) E91G unknown Het
Acot1 A G 12: 84,064,113 (GRCm39) Q407R probably benign Het
Adcy10 T A 1: 165,398,297 (GRCm39) Y1465N probably damaging Het
Ahsa2 T A 11: 23,440,702 (GRCm39) I249F probably damaging Het
Arhgap10 T C 8: 77,977,594 (GRCm39) N721S probably damaging Het
Arrdc4 T G 7: 68,391,619 (GRCm39) E216A probably damaging Het
Axin1 T C 17: 26,392,637 (GRCm39) V306A probably benign Het
Cct3 T C 3: 88,210,173 (GRCm39) probably null Het
Cfap58 G A 19: 47,963,119 (GRCm39) probably null Het
Chd9 T C 8: 91,699,859 (GRCm39) S49P possibly damaging Het
Clcn2 C A 16: 20,529,178 (GRCm39) probably null Het
Col26a1 T C 5: 136,783,047 (GRCm39) N286D probably benign Het
Cpt1b T A 15: 89,308,596 (GRCm39) I111F possibly damaging Het
Cyp4f16 T A 17: 32,756,061 (GRCm39) I30N probably damaging Het
Ddc T G 11: 11,830,587 (GRCm39) D19A possibly damaging Het
Depdc1a T A 3: 159,222,537 (GRCm39) probably null Het
Evc2 T A 5: 37,574,828 (GRCm39) C1028S possibly damaging Het
Fam228a T C 12: 4,781,457 (GRCm39) E134G probably damaging Het
Fasl T C 1: 161,615,523 (GRCm39) E111G probably benign Het
Fbxw10 A G 11: 62,767,564 (GRCm39) N800S possibly damaging Het
Fras1 T C 5: 96,910,524 (GRCm39) S3318P probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gad1 T A 2: 70,409,545 (GRCm39) M212K probably damaging Het
Gm17455 T G 10: 60,238,752 (GRCm39) S6A probably benign Het
Grm5 T C 7: 87,779,997 (GRCm39) S1146P probably damaging Het
Gsn T C 2: 35,194,651 (GRCm39) L649P probably damaging Het
H2-DMb1 A G 17: 34,374,685 (GRCm39) T112A probably benign Het
Hcn3 T A 3: 89,060,201 (GRCm39) I148F probably damaging Het
Hdac10 T C 15: 89,009,961 (GRCm39) probably null Het
Hk3 C A 13: 55,156,518 (GRCm39) D619Y probably damaging Het
Ifi44 T A 3: 151,451,134 (GRCm39) R272S possibly damaging Het
Il1rap A C 16: 26,517,625 (GRCm39) D275A probably damaging Het
Irag2 A G 6: 145,113,710 (GRCm39) R293G possibly damaging Het
Itgam A T 7: 127,707,152 (GRCm39) N660I probably benign Het
Itpr3 T C 17: 27,332,793 (GRCm39) M1853T probably benign Het
Lrrc8c A C 5: 105,754,965 (GRCm39) K247Q probably damaging Het
Map3k21 T C 8: 126,668,858 (GRCm39) S815P probably benign Het
Mast4 A G 13: 102,888,068 (GRCm39) S1114P probably damaging Het
Myh8 C T 11: 67,194,591 (GRCm39) Q1601* probably null Het
Nhlrc2 A G 19: 56,558,959 (GRCm39) D148G probably damaging Het
Nos1 T A 5: 118,081,385 (GRCm39) S1196T probably benign Het
Nsmaf C T 4: 6,424,874 (GRCm39) probably null Het
Obscn T C 11: 58,890,449 (GRCm39) D7361G unknown Het
Or2t35 T C 14: 14,407,777 (GRCm38) V183A probably damaging Het
Or52ad1 C A 7: 102,996,085 (GRCm39) A17S probably benign Het
Or5bw2 C T 7: 6,573,359 (GRCm39) A123V probably damaging Het
Pank3 T G 11: 35,668,536 (GRCm39) M175R probably benign Het
Papolg A G 11: 23,829,868 (GRCm39) probably null Het
Pcdhb21 G A 18: 37,647,566 (GRCm39) D232N probably damaging Het
Pcdhb22 T C 18: 37,651,925 (GRCm39) F131S probably damaging Het
Pik3r6 G A 11: 68,419,608 (GRCm39) A140T possibly damaging Het
Pinlyp T C 7: 24,241,947 (GRCm39) T87A possibly damaging Het
Pld5 T A 1: 176,102,295 (GRCm39) Y49F probably benign Het
Polq T C 16: 36,855,252 (GRCm39) V449A probably damaging Het
Prkca A G 11: 107,869,106 (GRCm39) V69A probably benign Het
Ptk6 A G 2: 180,844,075 (GRCm39) S75P possibly damaging Het
Ptprq G A 10: 107,418,391 (GRCm39) Q1662* probably null Het
Ptprt C A 2: 161,395,742 (GRCm39) A1144S probably damaging Het
Rrm1 T A 7: 102,116,133 (GRCm39) W684R probably damaging Het
Ryr1 T A 7: 28,735,500 (GRCm39) M4093L probably damaging Het
Scnn1a C T 6: 125,299,189 (GRCm39) L90F probably damaging Het
Slc25a19 G T 11: 115,508,423 (GRCm39) Y188* probably null Het
Slc31a1 C T 4: 62,303,866 (GRCm39) probably benign Het
Slc5a11 C G 7: 122,864,458 (GRCm39) S351R possibly damaging Het
Slc6a17 A G 3: 107,384,183 (GRCm39) L387P probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Spam1 T A 6: 24,797,837 (GRCm39) L331Q probably damaging Het
Spata32 A G 11: 103,100,125 (GRCm39) W127R probably damaging Het
Spring1 A G 5: 118,393,886 (GRCm39) E88G possibly damaging Het
Spta1 T G 1: 174,041,508 (GRCm39) I1324S probably damaging Het
St6galnac4 A G 2: 32,484,330 (GRCm39) Y176C probably damaging Het
Stk10 A G 11: 32,546,724 (GRCm39) E327G probably damaging Het
Stxbp5l T A 16: 36,954,646 (GRCm39) Y912F possibly damaging Het
Tchp G A 5: 114,858,243 (GRCm39) E459K probably benign Het
Terf2 C T 8: 107,822,842 (GRCm39) W100* probably null Het
Thoc2l T G 5: 104,666,077 (GRCm39) S200A probably benign Het
Thrsp T C 7: 97,066,634 (GRCm39) N26S probably damaging Het
Tln1 C A 4: 43,553,504 (GRCm39) R297L probably benign Het
Tmeff2 C A 1: 50,967,234 (GRCm39) T43N possibly damaging Het
Tmx1 C T 12: 70,499,947 (GRCm39) A2V possibly damaging Het
Tnks1bp1 T A 2: 84,902,481 (GRCm39) L1053Q probably damaging Het
Trmt10b A T 4: 45,304,286 (GRCm39) K107N probably damaging Het
Trpa1 A T 1: 14,955,972 (GRCm39) probably null Het
Trrap A G 5: 144,783,287 (GRCm39) K3371R probably damaging Het
Tuba3b G A 6: 145,563,995 (GRCm39) V14I probably benign Het
Usp19 T C 9: 108,371,439 (GRCm39) probably null Het
Usp28 C A 9: 48,950,401 (GRCm39) D615E possibly damaging Het
Utp20 T C 10: 88,657,931 (GRCm39) D43G probably benign Het
Vmn1r58 T G 7: 5,413,997 (GRCm39) K78Q possibly damaging Het
Vmn2r10 T C 5: 109,151,327 (GRCm39) M96V probably benign Het
Wdr90 T C 17: 26,079,023 (GRCm39) E273G probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Zscan21 T C 5: 138,131,865 (GRCm39) I463T possibly 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
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
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'- TCAATTGTGTGTCCTGCACAGCC -3'
(R):5'- CTGAGCCCCTGCTCTGTGAAAC -3'

Sequencing Primer
(F):5'- ggtccagaaccatgccag -3'
(R):5'- CCCTGCTCTGTGAAACTAATAATAC -3'
Posted On 2013-05-23