Incidental Mutation 'R7293:Pld1'
ID |
566533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pld1
|
Ensembl Gene |
ENSMUSG00000027695 |
Gene Name |
phospholipase D1 |
Synonyms |
Pld1a, Pld1b |
MMRRC Submission |
045398-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7293 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 28141435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 666
(T666K)
|
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: T666K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000064694 Gene: ENSMUSG00000027695 AA Change: T666K
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: T666K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113810 Gene: ENSMUSG00000027695 AA Change: T666K
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: T704K
|
SMART Domains |
Protein: ENSMUSP00000118727 Gene: ENSMUSG00000027695 AA Change: T704K
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: T477K
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: 98.9%
|
Validation Efficiency |
97% (74/76) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
G |
A |
19: 43,795,492 (GRCm39) |
G416E |
probably damaging |
Het |
Acsl5 |
G |
T |
19: 55,279,642 (GRCm39) |
W460L |
probably damaging |
Het |
Adam2 |
A |
G |
14: 66,272,634 (GRCm39) |
F614S |
probably benign |
Het |
Adamts5 |
G |
A |
16: 85,696,833 (GRCm39) |
T108I |
probably benign |
Het |
Agmat |
C |
T |
4: 141,483,246 (GRCm39) |
Q227* |
probably null |
Het |
Alg11 |
A |
G |
8: 22,555,395 (GRCm39) |
N219D |
probably damaging |
Het |
Amhr2 |
A |
G |
15: 102,355,828 (GRCm39) |
T258A |
probably benign |
Het |
Ankrd53 |
A |
G |
6: 83,740,178 (GRCm39) |
E82G |
probably null |
Het |
Blzf1 |
T |
A |
1: 164,123,452 (GRCm39) |
T292S |
possibly damaging |
Het |
Capza1 |
T |
C |
3: 104,748,151 (GRCm39) |
D71G |
probably benign |
Het |
Cc2d1b |
T |
C |
4: 108,488,873 (GRCm39) |
F770L |
probably benign |
Het |
Cckbr |
A |
T |
7: 105,083,852 (GRCm39) |
Q260L |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,085,836 (GRCm39) |
T1163A |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,760,707 (GRCm39) |
S2151P |
unknown |
Het |
Clk1 |
T |
A |
1: 58,453,772 (GRCm39) |
T301S |
probably benign |
Het |
Cmya5 |
T |
A |
13: 93,229,305 (GRCm39) |
S1928C |
possibly damaging |
Het |
Col24a1 |
C |
T |
3: 145,192,059 (GRCm39) |
Q1273* |
probably null |
Het |
Col4a4 |
T |
C |
1: 82,501,664 (GRCm39) |
D363G |
unknown |
Het |
Copb1 |
A |
T |
7: 113,818,837 (GRCm39) |
M827K |
probably damaging |
Het |
Crocc |
C |
T |
4: 140,770,867 (GRCm39) |
A351T |
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,879,428 (GRCm39) |
T587A |
probably damaging |
Het |
Csrnp3 |
A |
G |
2: 65,779,344 (GRCm39) |
R19G |
probably damaging |
Het |
Cyb5rl |
T |
C |
4: 106,938,143 (GRCm39) |
I165T |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 31,009,820 (GRCm39) |
I1916N |
probably damaging |
Het |
Dvl1 |
T |
C |
4: 155,940,625 (GRCm39) |
M415T |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,001,454 (GRCm39) |
S3845P |
possibly damaging |
Het |
Eif3b |
A |
G |
5: 140,405,183 (GRCm39) |
Q23R |
probably benign |
Het |
Esam |
G |
T |
9: 37,449,020 (GRCm39) |
R376L |
probably damaging |
Het |
Fat3 |
G |
C |
9: 15,826,336 (GRCm39) |
H391D |
|
Het |
Fat3 |
A |
C |
9: 15,826,592 (GRCm39) |
S305R |
|
Het |
Fgd3 |
T |
C |
13: 49,418,134 (GRCm39) |
D644G |
probably benign |
Het |
Fgf7 |
T |
C |
2: 125,877,672 (GRCm39) |
L13P |
probably damaging |
Het |
Gas2l1 |
A |
G |
11: 5,014,338 (GRCm39) |
Y41H |
probably damaging |
Het |
Glg1 |
A |
T |
8: 111,895,375 (GRCm39) |
I812N |
probably damaging |
Het |
Glp1r |
C |
T |
17: 31,143,599 (GRCm39) |
H212Y |
probably benign |
Het |
Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
Gpr158 |
G |
A |
2: 21,581,750 (GRCm39) |
V410I |
possibly damaging |
Het |
Ighv1-53 |
A |
T |
12: 115,122,441 (GRCm39) |
C5* |
probably null |
Het |
Itgb2l |
A |
C |
16: 96,227,996 (GRCm39) |
Y502* |
probably null |
Het |
Jakmip1 |
G |
A |
5: 37,284,817 (GRCm39) |
V635I |
probably benign |
Het |
Kplce |
A |
T |
3: 92,776,126 (GRCm39) |
C186S |
probably benign |
Het |
Krt23 |
C |
T |
11: 99,374,682 (GRCm39) |
M270I |
probably benign |
Het |
Larp1b |
C |
T |
3: 40,939,879 (GRCm39) |
A344V |
|
Het |
Lin28b |
T |
C |
10: 45,295,282 (GRCm39) |
M134V |
probably benign |
Het |
Lrrc19 |
T |
A |
4: 94,526,627 (GRCm39) |
Y310F |
probably benign |
Het |
Lyst |
T |
A |
13: 13,854,822 (GRCm39) |
D2397E |
probably benign |
Het |
Map6 |
A |
G |
7: 98,985,740 (GRCm39) |
N751S |
possibly damaging |
Het |
Mgrn1 |
G |
A |
16: 4,750,084 (GRCm39) |
D494N |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,184,631 (GRCm39) |
F1567L |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,778,549 (GRCm39) |
V461A |
probably benign |
Het |
Ncan |
A |
T |
8: 70,567,861 (GRCm39) |
S84T |
probably damaging |
Het |
Nlrp9a |
G |
A |
7: 26,270,694 (GRCm39) |
C908Y |
probably damaging |
Het |
Or4c3 |
A |
T |
2: 89,851,871 (GRCm39) |
Y180N |
probably damaging |
Het |
Or4f4b |
A |
G |
2: 111,313,699 (GRCm39) |
|
probably null |
Het |
Or52n20 |
T |
A |
7: 104,319,925 (GRCm39) |
N5K |
probably damaging |
Het |
Or8g31-ps1 |
A |
T |
9: 39,276,130 (GRCm39) |
M92L |
probably benign |
Het |
Parp4 |
CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC |
CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC |
14: 56,885,303 (GRCm39) |
|
probably benign |
Het |
Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
Pramel7 |
A |
C |
2: 87,322,706 (GRCm39) |
N19K |
probably benign |
Het |
Prh1 |
C |
G |
6: 132,548,721 (GRCm39) |
P76R |
unknown |
Het |
Prkd2 |
T |
C |
7: 16,579,865 (GRCm39) |
V121A |
possibly damaging |
Het |
Ptprq |
G |
A |
10: 107,471,367 (GRCm39) |
Q1345* |
probably null |
Het |
Ryr3 |
T |
A |
2: 112,732,948 (GRCm39) |
T653S |
probably benign |
Het |
Sall2 |
G |
T |
14: 52,551,868 (GRCm39) |
Y442* |
probably null |
Het |
Slc23a2 |
A |
C |
2: 131,931,026 (GRCm39) |
F158V |
probably benign |
Het |
Smg1 |
C |
A |
7: 117,765,322 (GRCm39) |
R1954L |
unknown |
Het |
Snx31 |
G |
A |
15: 36,523,596 (GRCm39) |
T362I |
probably damaging |
Het |
Taf3 |
G |
T |
2: 9,956,901 (GRCm39) |
T422K |
probably damaging |
Het |
Tcfl5 |
T |
C |
2: 180,283,958 (GRCm39) |
D142G |
probably benign |
Het |
Tmx1 |
A |
G |
12: 70,507,325 (GRCm39) |
T188A |
probably damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,735,866 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,871,375 (GRCm39) |
C640S |
possibly damaging |
Het |
Ulk4 |
T |
G |
9: 121,084,190 (GRCm39) |
N427T |
probably damaging |
Het |
Vmn1r202 |
T |
C |
13: 22,685,872 (GRCm39) |
M182V |
probably benign |
Het |
Vmn1r214 |
C |
T |
13: 23,218,839 (GRCm39) |
A111V |
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 |
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'- AAAGTGTTTCTGTCCCTGTCAC -3'
(R):5'- TCCCTCTGCATCCAAAGCTG -3'
Sequencing Primer
(F):5'- TCCCTGTCACCAAACTTAAAAATAGG -3'
(R):5'- TCCAAAGCTGTTTATCATAATACCCC -3'
|
Posted On |
2019-06-26 |