Incidental Mutation 'R8850:Pld1'
ID |
674929 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pld1
|
Ensembl Gene |
ENSMUSG00000027695 |
Gene Name |
phospholipase D1 |
Synonyms |
Pld1a, Pld1b |
MMRRC Submission |
068673-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8850 (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 28166439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 826
(E826G)
|
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: E826G
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000064694 Gene: ENSMUSG00000027695 AA Change: E826G
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 |
possibly damaging
Transcript: ENSMUST00000120834
AA Change: E826G
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113810 Gene: ENSMUSG00000027695 AA Change: E826G
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: E864G
|
SMART Domains |
Protein: ENSMUSP00000118727 Gene: ENSMUSG00000027695 AA Change: E864G
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: E46G
Domain | Start | End | E-Value | Type |
PLDc
|
74 |
101 |
1.34e-6 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000120273 Gene: ENSMUSG00000027695 AA Change: E637G
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: 99.0%
|
Validation Efficiency |
100% (64/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr10 |
G |
A |
12: 70,989,032 (GRCm39) |
|
probably null |
Het |
Adgrd1 |
A |
G |
5: 129,219,574 (GRCm39) |
K465E |
probably benign |
Het |
Aktip |
A |
T |
8: 91,853,402 (GRCm39) |
V105E |
probably benign |
Het |
Ankrd7 |
A |
G |
6: 18,870,006 (GRCm39) |
Y253C |
probably damaging |
Het |
Bag6 |
T |
C |
17: 35,361,041 (GRCm39) |
M440T |
unknown |
Het |
Camk2b |
T |
A |
11: 5,922,838 (GRCm39) |
N426Y |
probably damaging |
Het |
Ccdc82 |
T |
A |
9: 13,289,706 (GRCm39) |
Y500* |
probably null |
Het |
Cenpe |
T |
A |
3: 134,930,777 (GRCm39) |
D341E |
probably damaging |
Het |
Cyp2j13 |
A |
T |
4: 95,956,428 (GRCm39) |
M227K |
probably benign |
Het |
Dmbt1 |
G |
A |
7: 130,692,134 (GRCm39) |
V967I |
unknown |
Het |
Dnmt3b |
A |
T |
2: 153,515,933 (GRCm39) |
N447Y |
probably benign |
Het |
Dtl |
A |
T |
1: 191,285,175 (GRCm39) |
Y320* |
probably null |
Het |
Dtymk |
A |
C |
1: 93,729,543 (GRCm39) |
S3A |
probably benign |
Het |
Eefsec |
G |
A |
6: 88,423,253 (GRCm39) |
T70M |
possibly damaging |
Het |
Fam171a1 |
C |
T |
2: 3,221,344 (GRCm39) |
T270M |
probably damaging |
Het |
Gm17728 |
T |
C |
17: 9,641,159 (GRCm39) |
S90P |
probably benign |
Het |
Hdlbp |
A |
G |
1: 93,359,053 (GRCm39) |
L213P |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,109,188 (GRCm39) |
I1024V |
probably benign |
Het |
Hr |
C |
T |
14: 70,799,305 (GRCm39) |
R597* |
probably null |
Het |
Ifit3 |
T |
C |
19: 34,564,988 (GRCm39) |
I178T |
probably damaging |
Het |
Ifna6 |
A |
G |
4: 88,746,222 (GRCm39) |
*190W |
probably null |
Het |
Igkv4-55 |
A |
T |
6: 69,584,315 (GRCm39) |
M99K |
probably benign |
Het |
Klk1 |
T |
A |
7: 43,877,056 (GRCm39) |
I53N |
probably damaging |
Het |
Lpcat2b |
A |
G |
5: 107,580,692 (GRCm39) |
H7R |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,393,481 (GRCm39) |
P648L |
|
Het |
Mast4 |
G |
T |
13: 102,895,174 (GRCm39) |
P975H |
probably damaging |
Het |
Mfrp |
C |
T |
9: 44,013,807 (GRCm39) |
L106F |
probably benign |
Het |
Mllt10 |
T |
A |
2: 18,201,469 (GRCm39) |
S652T |
probably benign |
Het |
Mroh8 |
C |
A |
2: 157,083,673 (GRCm39) |
G400W |
probably damaging |
Het |
Neurl4 |
A |
G |
11: 69,794,788 (GRCm39) |
|
probably benign |
Het |
Nop14 |
A |
C |
5: 34,817,352 (GRCm39) |
V13G |
probably benign |
Het |
Nup188 |
T |
A |
2: 30,217,576 (GRCm39) |
L837Q |
probably damaging |
Het |
Or2a54 |
T |
A |
6: 43,092,905 (GRCm39) |
N76K |
possibly damaging |
Het |
Or2ak5 |
T |
A |
11: 58,611,572 (GRCm39) |
T101S |
probably benign |
Het |
Or7g30 |
T |
C |
9: 19,352,817 (GRCm39) |
S203P |
probably damaging |
Het |
Or8k39 |
T |
C |
2: 86,563,302 (GRCm39) |
Y218C |
probably damaging |
Het |
Pate10 |
A |
G |
9: 35,652,391 (GRCm39) |
Y16C |
probably damaging |
Het |
Pde8b |
A |
T |
13: 95,226,793 (GRCm39) |
V185E |
probably benign |
Het |
Pink1 |
G |
T |
4: 138,047,333 (GRCm39) |
A247D |
probably damaging |
Het |
Pla2g10 |
A |
T |
16: 13,545,914 (GRCm39) |
V40D |
probably damaging |
Het |
Plce1 |
G |
A |
19: 38,512,811 (GRCm39) |
G37R |
probably benign |
Het |
Poc5 |
G |
T |
13: 96,535,228 (GRCm39) |
K164N |
possibly damaging |
Het |
Polr2b |
A |
T |
5: 77,463,761 (GRCm39) |
M53L |
probably benign |
Het |
Ppp1r10 |
C |
T |
17: 36,239,690 (GRCm39) |
P470S |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,645,840 (GRCm39) |
S510P |
probably damaging |
Het |
Rnf17 |
T |
A |
14: 56,722,658 (GRCm39) |
L1073Q |
probably damaging |
Het |
Rpl13a-ps1 |
C |
T |
19: 50,018,739 (GRCm39) |
G146R |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,518,730 (GRCm39) |
D368G |
probably damaging |
Het |
Shc3 |
T |
A |
13: 51,634,248 (GRCm39) |
S86C |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,741,405 (GRCm39) |
H460R |
probably damaging |
Het |
Steap1 |
T |
A |
5: 5,790,838 (GRCm39) |
M37L |
probably benign |
Het |
Themis |
G |
T |
10: 28,673,492 (GRCm39) |
C593F |
possibly damaging |
Het |
Tnn |
A |
G |
1: 159,937,814 (GRCm39) |
|
probably null |
Het |
Trabd |
G |
T |
15: 88,969,667 (GRCm39) |
|
probably benign |
Het |
Trim42 |
T |
A |
9: 97,248,047 (GRCm39) |
K216N |
probably damaging |
Het |
Trmt44 |
G |
A |
5: 35,721,673 (GRCm39) |
P497S |
probably benign |
Het |
Trp53bp2 |
A |
G |
1: 182,256,475 (GRCm39) |
Y15C |
probably damaging |
Het |
Trpm7 |
T |
A |
2: 126,652,100 (GRCm39) |
I1458L |
probably benign |
Het |
Ttc17 |
G |
T |
2: 94,237,003 (GRCm39) |
A3E |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,704,208 (GRCm39) |
V9274L |
unknown |
Het |
Tut7 |
T |
A |
13: 59,937,011 (GRCm39) |
Q1212L |
possibly damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,428,872 (GRCm39) |
I735F |
probably damaging |
Het |
Vmn2r22 |
A |
G |
6: 123,614,454 (GRCm39) |
C379R |
probably damaging |
Het |
Vmn2r97 |
G |
A |
17: 19,149,607 (GRCm39) |
E332K |
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,920,732 (GRCm39) |
T1331A |
probably benign |
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 |
|
|
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'- GGGCATCTCCATAACTGTGC -3'
(R):5'- GACATTCACATTGCCAGGATAG -3'
Sequencing Primer
(F):5'- AACTGTGCCTTTACAGGTATGG -3'
(R):5'- ATCCATTTGAGATGTGTGCATGAC -3'
|
Posted On |
2021-07-15 |