Incidental Mutation 'R1815:Pld1'
ID |
202606 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pld1
|
Ensembl Gene |
ENSMUSG00000027695 |
Gene Name |
phospholipase D1 |
Synonyms |
Pld1a, Pld1b |
MMRRC Submission |
039843-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1815 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28163917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 783
(I783M)
|
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 benign
Transcript: ENSMUST00000067757
AA Change: I783M
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000064694 Gene: ENSMUSG00000027695 AA Change: I783M
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 benign
Transcript: ENSMUST00000120834
AA Change: I783M
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113810 Gene: ENSMUSG00000027695 AA Change: I783M
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: I821M
|
SMART Domains |
Protein: ENSMUSP00000118727 Gene: ENSMUSG00000027695 AA Change: I821M
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 |
unknown
Transcript: ENSMUST00000126594
AA Change: I3M
|
SMART Domains |
Protein: ENSMUSP00000121569 Gene: ENSMUSG00000027695 AA Change: I3M
Domain | Start | End | E-Value | Type |
PLDc
|
74 |
101 |
1.34e-6 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148827
AA Change: I594M
|
SMART Domains |
Protein: ENSMUSP00000120273 Gene: ENSMUSG00000027695 AA Change: I594M
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: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 90.5%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts4 |
A |
G |
1: 171,083,905 (GRCm39) |
T492A |
probably damaging |
Het |
Afg3l2 |
A |
T |
18: 67,548,643 (GRCm39) |
L529* |
probably null |
Het |
Ak9 |
A |
G |
10: 41,213,572 (GRCm39) |
E259G |
probably damaging |
Het |
Apol11b |
T |
A |
15: 77,519,772 (GRCm39) |
I103F |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,501,667 (GRCm39) |
M864V |
possibly damaging |
Het |
Atp8a2 |
A |
G |
14: 60,324,073 (GRCm39) |
L60P |
probably damaging |
Het |
Begain |
T |
C |
12: 109,000,033 (GRCm39) |
Y451C |
probably damaging |
Het |
Bmpr1b |
A |
T |
3: 141,586,124 (GRCm39) |
I46N |
probably benign |
Het |
Bms1 |
T |
A |
6: 118,360,742 (GRCm39) |
K1242M |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,622,358 (GRCm39) |
L254P |
probably damaging |
Het |
Ccdc112 |
A |
T |
18: 46,424,173 (GRCm39) |
N188K |
possibly damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdkal1 |
A |
G |
13: 29,901,774 (GRCm39) |
V132A |
possibly damaging |
Het |
Cdo1 |
A |
G |
18: 46,853,369 (GRCm39) |
C130R |
probably damaging |
Het |
Cep295nl |
G |
T |
11: 118,223,474 (GRCm39) |
R457S |
probably damaging |
Het |
Cntn1 |
A |
T |
15: 92,148,829 (GRCm39) |
I359F |
probably benign |
Het |
Csnk1g1 |
T |
C |
9: 65,939,606 (GRCm39) |
V435A |
probably damaging |
Het |
Csnka2ip |
A |
G |
16: 64,298,855 (GRCm39) |
V59A |
probably benign |
Het |
Ddr2 |
A |
T |
1: 169,823,170 (GRCm39) |
Y371* |
probably null |
Het |
Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,366,400 (GRCm39) |
I1901V |
probably damaging |
Het |
Fanci |
T |
A |
7: 79,088,056 (GRCm39) |
I903N |
probably damaging |
Het |
Fastk |
T |
C |
5: 24,646,529 (GRCm39) |
Q471R |
probably damaging |
Het |
Flvcr1 |
A |
T |
1: 190,757,577 (GRCm39) |
N238K |
probably damaging |
Het |
Gsdmc3 |
A |
T |
15: 63,740,965 (GRCm39) |
L61H |
probably damaging |
Het |
H2-M10.5 |
T |
A |
17: 37,084,836 (GRCm39) |
C187S |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,283,055 (GRCm39) |
I1977T |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,260,914 (GRCm39) |
I905F |
probably benign |
Het |
Jmy |
C |
T |
13: 93,590,585 (GRCm39) |
G506D |
probably damaging |
Het |
Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
Klhdc7b |
A |
G |
15: 89,271,800 (GRCm39) |
E894G |
probably damaging |
Het |
Klra7 |
T |
C |
6: 130,201,070 (GRCm39) |
I229V |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,986,565 (GRCm39) |
T150A |
probably benign |
Het |
Krtap20-1 |
T |
C |
16: 88,812,337 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
C |
1: 128,227,896 (GRCm39) |
Y1199C |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,724,642 (GRCm39) |
N75K |
possibly damaging |
Het |
Lss |
T |
C |
10: 76,388,798 (GRCm39) |
S700P |
probably damaging |
Het |
Ltbp1 |
A |
T |
17: 75,559,375 (GRCm39) |
Q288L |
probably benign |
Het |
Mical2 |
A |
G |
7: 112,012,109 (GRCm39) |
E653G |
probably damaging |
Het |
Mphosph10 |
G |
T |
7: 64,041,918 (GRCm39) |
Q9K |
probably benign |
Het |
Muc15 |
T |
A |
2: 110,561,603 (GRCm39) |
L13Q |
probably damaging |
Het |
Ncf4 |
A |
G |
15: 78,134,602 (GRCm39) |
D18G |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,839,101 (GRCm39) |
Y127C |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
Or8g18 |
T |
C |
9: 39,149,286 (GRCm39) |
I145V |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,366,618 (GRCm39) |
Y28* |
probably null |
Het |
Pdcd2l |
G |
A |
7: 33,885,826 (GRCm39) |
T286I |
probably benign |
Het |
Pgbd1 |
A |
G |
13: 21,607,342 (GRCm39) |
V284A |
probably damaging |
Het |
Phlpp2 |
C |
A |
8: 110,666,855 (GRCm39) |
T1128K |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,975,148 (GRCm39) |
V244A |
possibly damaging |
Het |
Plk5 |
T |
C |
10: 80,199,855 (GRCm39) |
V454A |
probably benign |
Het |
Prkci |
T |
C |
3: 31,092,644 (GRCm39) |
S309P |
probably damaging |
Het |
Prx |
A |
T |
7: 27,216,090 (GRCm39) |
D197V |
probably damaging |
Het |
Ptpn5 |
A |
G |
7: 46,728,589 (GRCm39) |
L537P |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,698,867 (GRCm39) |
N1121K |
probably benign |
Het |
Rock2 |
T |
A |
12: 17,022,727 (GRCm39) |
D1055E |
probably benign |
Het |
Rrp1b |
T |
C |
17: 32,275,785 (GRCm39) |
V444A |
probably benign |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CG |
CGACGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
S1pr2 |
G |
A |
9: 20,879,388 (GRCm39) |
R147* |
probably null |
Het |
Serpinb9b |
A |
T |
13: 33,223,887 (GRCm39) |
I360F |
probably damaging |
Het |
Smc6 |
T |
C |
12: 11,344,602 (GRCm39) |
|
probably null |
Het |
Srsf11 |
C |
T |
3: 157,722,064 (GRCm39) |
|
probably benign |
Het |
Sstr1 |
T |
C |
12: 58,260,264 (GRCm39) |
F296L |
possibly damaging |
Het |
Tecrl |
T |
A |
5: 83,427,081 (GRCm39) |
I356L |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,136,705 (GRCm39) |
I2348T |
probably damaging |
Het |
Tmed11 |
T |
A |
5: 108,925,291 (GRCm39) |
I174L |
probably benign |
Het |
Tmem132a |
G |
A |
19: 10,838,931 (GRCm39) |
Q504* |
probably null |
Het |
Unc5c |
A |
T |
3: 141,463,518 (GRCm39) |
D213V |
probably damaging |
Het |
Utp25 |
A |
C |
1: 192,800,591 (GRCm39) |
S410A |
probably benign |
Het |
Vgll4 |
T |
C |
6: 114,841,020 (GRCm39) |
D92G |
probably benign |
Het |
Vps37a |
T |
C |
8: 40,965,162 (GRCm39) |
F5L |
probably benign |
Het |
Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
Zeb1 |
G |
A |
18: 5,767,898 (GRCm39) |
C803Y |
probably damaging |
Het |
Zmym1 |
T |
C |
4: 126,942,814 (GRCm39) |
T427A |
possibly 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 |
|
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'- AGCGCTCAGATCCCATAGTG -3'
(R):5'- TTGACAGAGCCACCATGGATAAC -3'
Sequencing Primer
(F):5'- CTCAGATCCCATAGTGATAGCTGG -3'
(R):5'- CCATGGATAACTGCGACATCTG -3'
|
Posted On |
2014-06-23 |