Incidental Mutation 'R7267:Pld1'
ID |
564976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pld1
|
Ensembl Gene |
ENSMUSG00000027695 |
Gene Name |
phospholipase D1 |
Synonyms |
Pld1a, Pld1b |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7267 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 28130550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 450
(H450P)
|
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: H450P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000064694 Gene: ENSMUSG00000027695 AA Change: H450P
Domain | Start | End | E-Value | Type |
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: H450P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113810 Gene: ENSMUSG00000027695 AA Change: H450P
Domain | Start | End | E-Value | Type |
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 |
|
SMART Domains |
Protein: ENSMUSP00000118727 Gene: ENSMUSG00000027695 AA Change: H450P
Domain | Start | End | E-Value | Type |
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: H261P
Domain | Start | End | E-Value | Type |
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: 99.6%
- 20x: 98.5%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,916,205 (GRCm39) |
I37T |
probably damaging |
Het |
Ackr2 |
A |
G |
9: 121,737,874 (GRCm39) |
Y83C |
probably damaging |
Het |
Adam19 |
C |
T |
11: 46,012,403 (GRCm39) |
Q300* |
probably null |
Het |
Anxa7 |
C |
T |
14: 20,519,474 (GRCm39) |
A115T |
probably benign |
Het |
Aoc1l3 |
AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC |
AGGCCCAGCC |
6: 48,964,952 (GRCm39) |
|
probably benign |
Het |
Atad2b |
A |
T |
12: 5,077,105 (GRCm39) |
R1109* |
probably null |
Het |
Batf2 |
A |
G |
19: 6,221,396 (GRCm39) |
T69A |
probably benign |
Het |
Best1 |
A |
G |
19: 9,964,177 (GRCm39) |
C428R |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,892,980 (GRCm39) |
T973A |
probably benign |
Het |
Bmp2k |
C |
T |
5: 97,216,293 (GRCm39) |
T597I |
unknown |
Het |
Bmpr1a |
G |
A |
14: 34,165,836 (GRCm39) |
P57L |
possibly damaging |
Het |
Camk2d |
A |
T |
3: 126,591,379 (GRCm39) |
H283L |
possibly damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Ces1b |
C |
A |
8: 93,806,132 (GRCm39) |
K36N |
possibly damaging |
Het |
Ces2a |
T |
A |
8: 105,465,672 (GRCm39) |
M308K |
probably benign |
Het |
Ctnnd2 |
C |
A |
15: 30,683,501 (GRCm39) |
Q501K |
probably benign |
Het |
Cyb561d1 |
T |
C |
3: 108,106,629 (GRCm39) |
T197A |
probably benign |
Het |
Dedd2 |
C |
A |
7: 24,918,391 (GRCm39) |
A55S |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,391,643 (GRCm39) |
R684Q |
probably damaging |
Het |
Elovl3 |
A |
G |
19: 46,122,979 (GRCm39) |
Y185C |
probably damaging |
Het |
Fgf3 |
C |
T |
7: 144,392,569 (GRCm39) |
A42V |
probably damaging |
Het |
Gabra5 |
A |
G |
7: 57,140,529 (GRCm39) |
L56P |
probably damaging |
Het |
Gm19410 |
T |
G |
8: 36,281,997 (GRCm39) |
V1860G |
possibly damaging |
Het |
Gm21663 |
G |
T |
5: 26,143,751 (GRCm39) |
N190K |
probably damaging |
Het |
Grm3 |
T |
A |
5: 9,639,581 (GRCm39) |
I155L |
probably benign |
Het |
Hadha |
A |
G |
5: 30,327,755 (GRCm39) |
I495T |
probably damaging |
Het |
Herc4 |
C |
T |
10: 63,109,365 (GRCm39) |
A200V |
possibly damaging |
Het |
Itga3 |
C |
A |
11: 94,967,188 (GRCm39) |
|
probably benign |
Het |
Krt6a |
C |
T |
15: 101,602,289 (GRCm39) |
S132N |
probably benign |
Het |
Lpar1 |
T |
C |
4: 58,486,857 (GRCm39) |
N138S |
possibly damaging |
Het |
Lrrc42 |
T |
A |
4: 107,096,983 (GRCm39) |
T247S |
probably damaging |
Het |
Man2b1 |
T |
A |
8: 85,813,804 (GRCm39) |
V256E |
probably damaging |
Het |
Map3k4 |
G |
T |
17: 12,490,536 (GRCm39) |
Y298* |
probably null |
Het |
Mars1 |
A |
G |
10: 127,144,455 (GRCm39) |
V195A |
probably benign |
Het |
Mdm4 |
A |
T |
1: 132,922,311 (GRCm39) |
V278E |
probably benign |
Het |
Mdp1 |
A |
G |
14: 55,897,544 (GRCm39) |
V37A |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,199,652 (GRCm39) |
I685T |
probably benign |
Het |
Mobp |
A |
G |
9: 119,996,914 (GRCm39) |
N15S |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,979,320 (GRCm39) |
M435K |
probably benign |
Het |
Nfs1 |
A |
G |
2: 155,965,703 (GRCm39) |
V126A |
probably benign |
Het |
Npepl1 |
T |
A |
2: 173,963,909 (GRCm39) |
V480E |
probably damaging |
Het |
Nr2e3 |
G |
A |
9: 59,855,972 (GRCm39) |
S155F |
possibly damaging |
Het |
Oplah |
T |
C |
15: 76,189,209 (GRCm39) |
D278G |
probably benign |
Het |
Or4c124 |
A |
T |
2: 89,156,157 (GRCm39) |
Y122* |
probably null |
Het |
Or51q1c |
A |
G |
7: 103,653,046 (GRCm39) |
H188R |
probably benign |
Het |
Pard3 |
T |
C |
8: 128,098,056 (GRCm39) |
Y366H |
probably damaging |
Het |
Pcdhb11 |
A |
G |
18: 37,555,006 (GRCm39) |
N112S |
possibly damaging |
Het |
Pde11a |
A |
G |
2: 76,168,189 (GRCm39) |
S255P |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,224,268 (GRCm39) |
H745R |
|
Het |
Pkn2 |
A |
T |
3: 142,517,776 (GRCm39) |
S441T |
possibly damaging |
Het |
Plekhs1 |
T |
A |
19: 56,459,209 (GRCm39) |
H22Q |
probably damaging |
Het |
Prss44 |
A |
C |
9: 110,645,611 (GRCm39) |
Y285S |
probably damaging |
Het |
Qpctl |
T |
C |
7: 18,878,852 (GRCm39) |
E249G |
probably benign |
Het |
Rcsd1 |
A |
T |
1: 165,491,185 (GRCm39) |
S50T |
probably damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scube1 |
T |
A |
15: 83,505,266 (GRCm39) |
N496Y |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,328,196 (GRCm39) |
M1415V |
probably benign |
Het |
Slc16a8 |
AGGCC |
A |
15: 79,136,125 (GRCm39) |
|
probably null |
Het |
Slc38a4 |
T |
A |
15: 96,903,781 (GRCm39) |
T407S |
probably benign |
Het |
Slc51a |
T |
G |
16: 32,298,590 (GRCm39) |
I56L |
probably benign |
Het |
Slc6a18 |
T |
G |
13: 73,819,755 (GRCm39) |
I272L |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 42,035,375 (GRCm39) |
L12P |
possibly damaging |
Het |
Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
Syne1 |
C |
T |
10: 5,178,218 (GRCm39) |
R4752Q |
probably damaging |
Het |
Tbc1d9 |
C |
A |
8: 83,997,957 (GRCm39) |
H1171Q |
probably damaging |
Het |
Thsd1 |
G |
A |
8: 22,733,597 (GRCm39) |
V215I |
probably benign |
Het |
Tmem143 |
T |
A |
7: 45,557,598 (GRCm39) |
M208K |
probably benign |
Het |
Tmem63b |
C |
T |
17: 45,977,048 (GRCm39) |
V440I |
probably benign |
Het |
Tnik |
A |
T |
3: 28,700,776 (GRCm39) |
S918C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,733,751 (GRCm39) |
I4508T |
unknown |
Het |
Vav2 |
A |
G |
2: 27,173,334 (GRCm39) |
F497L |
probably damaging |
Het |
Zc3h14 |
G |
A |
12: 98,751,988 (GRCm39) |
R730Q |
probably damaging |
Het |
Zfp560 |
G |
A |
9: 20,259,384 (GRCm39) |
H493Y |
probably damaging |
Het |
|
Other mutations in Pld1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TCTGGCTGAAAACTAAACCATAAGAGG -3'
(R):5'- AGAGACAGTCCTGAGGTGAC -3'
Sequencing Primer
(F):5'- ATCTCAAGTTCAAGGCCGG -3'
(R):5'- TGAGGTGACCCGCTTGACAC -3'
|
Posted On |
2019-06-26 |