Incidental Mutation 'R9648:Pld1'
ID |
726850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pld1
|
Ensembl Gene |
ENSMUSG00000027695 |
Gene Name |
phospholipase D1 |
Synonyms |
Pld1a, Pld1b |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9648 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28174900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 846
(L846Q)
|
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: L846Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000064694 Gene: ENSMUSG00000027695 AA Change: L846Q
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: L846Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113810 Gene: ENSMUSG00000027695 AA Change: L846Q
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 |
unknown
Transcript: ENSMUST00000123539
AA Change: L884Q
|
SMART Domains |
Protein: ENSMUSP00000118727 Gene: ENSMUSG00000027695 AA Change: L884Q
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: ENSMUSP00000121569 Gene: ENSMUSG00000027695 AA Change: L66Q
Domain | Start | End | E-Value | Type |
PLDc
|
74 |
101 |
1.34e-6 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000120273 Gene: ENSMUSG00000027695 AA Change: L657Q
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: 99.7%
- 20x: 99.2%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
G |
A |
8: 27,609,172 (GRCm39) |
V798M |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,273,245 (GRCm39) |
L1171P |
probably benign |
Het |
Atp2b2 |
C |
T |
6: 113,780,707 (GRCm39) |
|
probably null |
Het |
Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,943,720 (GRCm39) |
N2720K |
probably damaging |
Het |
Ccpg1 |
T |
C |
9: 72,919,312 (GRCm39) |
L309S |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,234,903 (GRCm39) |
N2126S |
probably benign |
Het |
Cln5 |
A |
G |
14: 103,313,734 (GRCm39) |
T329A |
probably benign |
Het |
Cmas |
T |
A |
6: 142,716,935 (GRCm39) |
L276M |
probably benign |
Het |
Cnbd1 |
A |
C |
4: 19,098,142 (GRCm39) |
|
probably null |
Het |
Depdc1b |
A |
G |
13: 108,460,444 (GRCm39) |
N18S |
probably damaging |
Het |
Dido1 |
C |
A |
2: 180,302,468 (GRCm39) |
R1812I |
probably damaging |
Het |
Dnajc2 |
G |
A |
5: 21,968,478 (GRCm39) |
T403M |
probably damaging |
Het |
Dnm1 |
T |
A |
2: 32,230,455 (GRCm39) |
I120F |
probably damaging |
Het |
Egfl6 |
C |
T |
X: 165,319,235 (GRCm39) |
V379I |
probably benign |
Het |
Foxa2 |
T |
A |
2: 147,887,799 (GRCm39) |
K12M |
probably damaging |
Het |
Fut7 |
T |
A |
2: 25,315,336 (GRCm39) |
V198E |
probably damaging |
Het |
Gramd1b |
A |
T |
9: 40,244,793 (GRCm39) |
V205E |
probably damaging |
Het |
Gtf2i |
T |
A |
5: 134,284,770 (GRCm39) |
N510Y |
probably damaging |
Het |
H2-M1 |
T |
C |
17: 36,982,248 (GRCm39) |
I118V |
probably benign |
Het |
Icam1 |
T |
C |
9: 20,937,697 (GRCm39) |
F245L |
probably damaging |
Het |
Ifna16 |
C |
T |
4: 88,595,060 (GRCm39) |
A12T |
probably benign |
Het |
Il12rb2 |
T |
C |
6: 67,333,587 (GRCm39) |
T231A |
probably benign |
Het |
Klrb1a |
T |
C |
6: 128,586,816 (GRCm39) |
|
probably null |
Het |
Mc3r |
T |
C |
2: 172,091,639 (GRCm39) |
L287P |
probably damaging |
Het |
Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
Msh3 |
A |
G |
13: 92,478,757 (GRCm39) |
V404A |
probably benign |
Het |
Myrf |
T |
A |
19: 10,188,010 (GRCm39) |
I896F |
possibly damaging |
Het |
Nup205 |
T |
A |
6: 35,202,746 (GRCm39) |
Y1318N |
probably benign |
Het |
Or2t47 |
A |
T |
11: 58,442,313 (GRCm39) |
Y251N |
probably damaging |
Het |
Or7g17 |
T |
A |
9: 18,768,748 (GRCm39) |
S267T |
possibly damaging |
Het |
Osbp |
T |
A |
19: 11,943,590 (GRCm39) |
W96R |
probably damaging |
Het |
Pcf11 |
A |
G |
7: 92,307,318 (GRCm39) |
L950P |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,190,089 (GRCm39) |
T2816A |
probably benign |
Het |
Pde7a |
A |
G |
3: 19,310,966 (GRCm39) |
Y87H |
probably damaging |
Het |
Pip4k2c |
T |
C |
10: 127,041,569 (GRCm39) |
H163R |
probably damaging |
Het |
Plppr2 |
T |
A |
9: 21,852,379 (GRCm39) |
S113T |
probably benign |
Het |
Pms1 |
A |
T |
1: 53,314,284 (GRCm39) |
L87Q |
probably damaging |
Het |
Rasa1 |
A |
G |
13: 85,436,690 (GRCm39) |
S113P |
possibly damaging |
Het |
Rexo1 |
T |
A |
10: 80,385,540 (GRCm39) |
H506L |
probably damaging |
Het |
Rps12 |
T |
C |
10: 23,662,777 (GRCm39) |
I6V |
probably benign |
Het |
Rsph3a |
T |
C |
17: 8,171,395 (GRCm39) |
M170T |
probably benign |
Het |
Rsrc2 |
A |
G |
5: 123,877,688 (GRCm39) |
S156P |
unknown |
Het |
Rtp3 |
T |
C |
9: 110,815,586 (GRCm39) |
T260A |
probably benign |
Het |
Sall2 |
A |
G |
14: 52,551,224 (GRCm39) |
F657S |
probably damaging |
Het |
Serpind1 |
T |
A |
16: 17,154,318 (GRCm39) |
N48K |
probably benign |
Het |
Slc38a11 |
T |
A |
2: 65,188,484 (GRCm39) |
D95V |
probably benign |
Het |
Slc5a4a |
T |
C |
10: 76,002,608 (GRCm39) |
C255R |
probably damaging |
Het |
Slc6a12 |
C |
A |
6: 121,335,661 (GRCm39) |
Y330* |
probably null |
Het |
Slco1b2 |
T |
C |
6: 141,602,655 (GRCm39) |
Y203H |
possibly damaging |
Het |
Spdye4a |
C |
T |
5: 143,210,848 (GRCm39) |
R74K |
probably benign |
Het |
Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
Stat1 |
A |
T |
1: 52,165,695 (GRCm39) |
D97V |
probably damaging |
Het |
Stk11ip |
A |
G |
1: 75,505,585 (GRCm39) |
E418G |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,739,876 (GRCm39) |
D525G |
probably damaging |
Het |
Tcstv7b |
C |
T |
13: 120,702,495 (GRCm39) |
P97L |
possibly damaging |
Het |
Tlr2 |
A |
T |
3: 83,745,840 (GRCm39) |
L81Q |
probably damaging |
Het |
Tmt1a3 |
C |
T |
15: 100,232,857 (GRCm39) |
A16V |
probably benign |
Het |
Trim50 |
T |
A |
5: 135,395,475 (GRCm39) |
I277N |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,619,806 (GRCm39) |
Q15954L |
probably benign |
Het |
Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
Wdr43 |
A |
G |
17: 71,960,494 (GRCm39) |
K592R |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,346,599 (GRCm39) |
I2947V |
probably benign |
Het |
Zan |
A |
C |
5: 137,405,992 (GRCm39) |
F3746V |
unknown |
Het |
Zfp418 |
G |
A |
7: 7,185,171 (GRCm39) |
S378N |
probably benign |
Het |
Zfp518b |
C |
G |
5: 38,830,240 (GRCm39) |
Q588H |
probably damaging |
Het |
Zfp959 |
G |
A |
17: 56,204,212 (GRCm39) |
R83K |
possibly damaging |
Het |
Znrf3 |
G |
A |
11: 5,231,915 (GRCm39) |
R437C |
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 |
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 |
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'- TACCTGTATTCTAAGTAGCCTGC -3'
(R):5'- TGTGCAAAGTCCCTTTCATTGC -3'
Sequencing Primer
(F):5'- CTAAGTAGCCTGCTTAAGTGGC -3'
(R):5'- ACTGTCTCTGAAACAGTCTAGGG -3'
|
Posted On |
2022-10-06 |