Incidental Mutation 'R6243:Pld1'
| ID |
505360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| MMRRC Submission |
044365-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6243 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28149954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 717
(I717T)
|
| 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: I717T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: I717T
| 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: I717T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: I717T
| 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: I755T
|
| SMART Domains |
Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: I755T
| 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: ENSMUST00000148827
AA Change: I528T
|
| SMART Domains |
Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: I528T
| 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 |
|
| Meta Mutation Damage Score |
0.0773 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (73/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
C |
13: 104,450,809 (GRCm39) |
S331P |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,115,000 (GRCm39) |
|
probably null |
Het |
| Ankef1 |
A |
G |
2: 136,379,077 (GRCm39) |
E9G |
probably damaging |
Het |
| Ap1g2 |
T |
C |
14: 55,336,530 (GRCm39) |
E788G |
probably benign |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Asrgl1 |
A |
T |
19: 9,093,868 (GRCm39) |
I220K |
probably damaging |
Het |
| Atg16l2 |
A |
C |
7: 100,941,536 (GRCm39) |
*404E |
probably null |
Het |
| Atp4a |
T |
C |
7: 30,415,382 (GRCm39) |
F334S |
possibly damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,292,495 (GRCm39) |
E17G |
probably benign |
Het |
| Bcat2 |
T |
C |
7: 45,237,691 (GRCm39) |
V279A |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,916,382 (GRCm39) |
M459R |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,760 (GRCm39) |
Y3098C |
unknown |
Het |
| Btaf1 |
T |
A |
19: 36,958,520 (GRCm39) |
M679K |
probably benign |
Het |
| Cirop |
T |
A |
14: 54,933,216 (GRCm39) |
R322S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,890,589 (GRCm39) |
T1902A |
possibly damaging |
Het |
| Crhr1 |
G |
A |
11: 104,064,740 (GRCm39) |
C364Y |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,446,288 (GRCm39) |
L648P |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,550,277 (GRCm39) |
Y671H |
probably damaging |
Het |
| Cyp2b13 |
C |
T |
7: 25,761,044 (GRCm39) |
P34S |
probably damaging |
Het |
| Dnajb6 |
T |
A |
5: 29,986,131 (GRCm39) |
V233E |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,301,216 (GRCm39) |
H191L |
probably damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,781 (GRCm39) |
D817E |
probably damaging |
Het |
| Dytn |
T |
C |
1: 63,686,680 (GRCm39) |
Q330R |
possibly damaging |
Het |
| Fads1 |
G |
T |
19: 10,163,091 (GRCm39) |
E123* |
probably null |
Het |
| Fchsd2 |
T |
C |
7: 100,921,016 (GRCm39) |
|
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,494,938 (GRCm39) |
E270G |
probably benign |
Het |
| Folr1 |
T |
A |
7: 101,513,172 (GRCm39) |
H41L |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,756,096 (GRCm39) |
N985S |
possibly damaging |
Het |
| Gp1ba |
T |
C |
11: 70,530,963 (GRCm39) |
|
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Igf2bp3 |
A |
T |
6: 49,084,362 (GRCm39) |
N285K |
possibly damaging |
Het |
| Lca5l |
G |
A |
16: 95,980,112 (GRCm39) |
T6I |
possibly damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,604 (GRCm39) |
H354R |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,290,999 (GRCm39) |
V195E |
possibly damaging |
Het |
| Mtfmt |
C |
T |
9: 65,351,182 (GRCm39) |
T243I |
probably benign |
Het |
| Myo1h |
T |
A |
5: 114,500,208 (GRCm39) |
I195K |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,856,380 (GRCm39) |
K300E |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,260,105 (GRCm39) |
S628P |
probably benign |
Het |
| Nup214 |
G |
T |
2: 31,892,944 (GRCm39) |
A721S |
possibly damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,385 (GRCm39) |
M1V |
probably null |
Het |
| Or5d47 |
A |
G |
2: 87,804,931 (GRCm39) |
V26A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,726,457 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,065,320 (GRCm39) |
S12G |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,382,826 (GRCm39) |
Y289H |
probably damaging |
Het |
| Plxdc1 |
A |
G |
11: 97,846,299 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ppid |
A |
G |
3: 79,510,373 (GRCm39) |
I354V |
probably benign |
Het |
| Prss2 |
T |
C |
6: 41,501,387 (GRCm39) |
V152A |
probably benign |
Het |
| Rab28 |
C |
T |
5: 41,793,223 (GRCm39) |
A141T |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,472,877 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
T |
G |
2: 25,475,415 (GRCm39) |
S553R |
probably damaging |
Het |
| Rars1 |
A |
G |
11: 35,717,374 (GRCm39) |
F170S |
possibly damaging |
Het |
| Ror2 |
T |
A |
13: 53,267,116 (GRCm39) |
M440L |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsph4a |
A |
T |
10: 33,785,139 (GRCm39) |
Q350L |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,450,869 (GRCm39) |
F204L |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,533,257 (GRCm39) |
|
probably null |
Het |
| Shisa3 |
C |
T |
5: 67,768,486 (GRCm39) |
P129S |
probably benign |
Het |
| Slc13a2 |
G |
A |
11: 78,295,534 (GRCm39) |
L111F |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,743,025 (GRCm39) |
R1195W |
probably damaging |
Het |
| Syna |
C |
A |
5: 134,588,968 (GRCm39) |
|
probably benign |
Het |
| Thada |
A |
T |
17: 84,744,030 (GRCm39) |
D759E |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,869,753 (GRCm39) |
Y385C |
possibly damaging |
Het |
| Thsd7a |
C |
T |
6: 12,327,601 (GRCm39) |
D1424N |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 130,090,599 (GRCm39) |
Q1204L |
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,029,671 (GRCm39) |
N43S |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Ugt2a2 |
T |
G |
5: 87,610,818 (GRCm39) |
K339N |
probably benign |
Het |
| Vmn2r8 |
T |
C |
5: 108,947,211 (GRCm39) |
T514A |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,774,682 (GRCm39) |
M652K |
possibly damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,083,184 (GRCm39) |
Y550F |
probably benign |
Het |
| Zfp995 |
G |
A |
17: 22,099,269 (GRCm39) |
P322S |
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 |
|
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'- GGATGTGCTCTAACTCTCCC -3'
(R):5'- GGGGCCCCTACAGTCTTATATAATAC -3'
Sequencing Primer
(F):5'- AACTCTCCCTTGGACCGCATG -3'
(R):5'- TGGCCATCAGCTAGTGAATC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation