Incidental Mutation 'R7524:Pld1'
| ID |
582823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| MMRRC Submission |
045596-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7524 (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 T
at 28078470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 43
(D43V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067757]
[ENSMUST00000120834]
[ENSMUST00000123539]
[ENSMUST00000125338]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067757
AA Change: D43V
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: D43V
| 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: D43V
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: D43V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: D43V
| 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 |
probably benign
Transcript: ENSMUST00000125338
AA Change: D43V
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121318
Gene: ENSMUSG00000027695
AA Change: D43V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
80 |
126 |
5e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (79/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
C |
T |
8: 56,325,395 (GRCm39) |
C353Y |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,906,543 (GRCm39) |
E452V |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,800,415 (GRCm39) |
D45G |
probably benign |
Het |
| Arhgap17 |
G |
A |
7: 122,905,643 (GRCm39) |
P334L |
probably damaging |
Het |
| Asns |
G |
T |
6: 7,677,259 (GRCm39) |
|
probably null |
Het |
| Bend7 |
A |
G |
2: 4,804,791 (GRCm39) |
T424A |
probably benign |
Het |
| Btbd2 |
C |
T |
10: 80,482,278 (GRCm39) |
E241K |
probably damaging |
Het |
| Commd2 |
A |
C |
3: 57,557,569 (GRCm39) |
L99W |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,279,025 (GRCm39) |
D473V |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,347 (GRCm39) |
F423L |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,340,146 (GRCm39) |
F390L |
probably damaging |
Het |
| Dcaf5 |
T |
A |
12: 80,423,470 (GRCm39) |
Q234L |
probably benign |
Het |
| Dennd3 |
T |
G |
15: 73,396,095 (GRCm39) |
Y201* |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,012,307 (GRCm39) |
D485G |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,297,212 (GRCm39) |
T1469S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,095,082 (GRCm39) |
D2167G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,330,974 (GRCm39) |
V4921A |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,387,020 (GRCm39) |
Y736H |
probably damaging |
Het |
| Eri2 |
C |
G |
7: 119,384,972 (GRCm39) |
V510L |
probably benign |
Het |
| Eya2 |
G |
A |
2: 165,611,246 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
G |
T |
2: 130,458,048 (GRCm39) |
Q181K |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,802,391 (GRCm39) |
S1440P |
probably damaging |
Het |
| Fkbp9 |
G |
A |
6: 56,845,725 (GRCm39) |
V354M |
probably damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,271,181 (GRCm39) |
S304T |
probably benign |
Het |
| Gtf2a2 |
T |
A |
9: 69,922,629 (GRCm39) |
Y3* |
probably null |
Het |
| Hagh |
G |
A |
17: 25,080,314 (GRCm39) |
V226I |
probably benign |
Het |
| Hemk1 |
T |
A |
9: 107,205,484 (GRCm39) |
I293F |
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,944,523 (GRCm39) |
E262G |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,511,793 (GRCm39) |
T983S |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,989,340 (GRCm39) |
H7Q |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,896,460 (GRCm39) |
Q94L |
probably damaging |
Het |
| Krt12 |
T |
C |
11: 99,310,485 (GRCm39) |
D224G |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,742 (GRCm39) |
S289T |
possibly damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,120,293 (GRCm39) |
V60M |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,536,138 (GRCm39) |
F536I |
possibly damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,281,200 (GRCm39) |
T453A |
unknown |
Het |
| Muc3a |
A |
C |
5: 137,245,020 (GRCm39) |
I151S |
probably benign |
Het |
| Myorg |
C |
A |
4: 41,498,779 (GRCm39) |
V284L |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Or4c112 |
T |
A |
2: 88,854,315 (GRCm39) |
I11L |
probably benign |
Het |
| Or4c125 |
A |
G |
2: 89,170,221 (GRCm39) |
C142R |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,727,750 (GRCm39) |
I224V |
probably damaging |
Het |
| Or5ar1 |
T |
A |
2: 85,671,701 (GRCm39) |
M145L |
probably benign |
Het |
| Or6z7 |
T |
C |
7: 6,483,586 (GRCm39) |
N190D |
probably benign |
Het |
| Or7a42 |
T |
A |
10: 78,791,325 (GRCm39) |
Y95* |
probably null |
Het |
| Pcdhgb4 |
A |
T |
18: 37,854,661 (GRCm39) |
D352V |
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,263,948 (GRCm39) |
F235L |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,728,317 (GRCm39) |
I2392V |
unknown |
Het |
| Ppp1r1b |
C |
A |
11: 98,241,720 (GRCm39) |
A51D |
possibly damaging |
Het |
| Prr23a1 |
T |
A |
9: 98,724,917 (GRCm39) |
L93H |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,418,584 (GRCm39) |
D61G |
probably benign |
Het |
| Rab40b |
T |
A |
11: 121,278,878 (GRCm39) |
I31F |
probably damaging |
Het |
| Rasd2 |
T |
C |
8: 75,948,709 (GRCm39) |
F212L |
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,841,821 (GRCm39) |
I1006V |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,074,371 (GRCm39) |
E59G |
probably benign |
Het |
| Slc22a2 |
G |
T |
17: 12,824,944 (GRCm39) |
V269L |
possibly damaging |
Het |
| Slc2a1 |
C |
T |
4: 118,989,809 (GRCm39) |
P149S |
probably damaging |
Het |
| Smad4 |
T |
G |
18: 73,808,942 (GRCm39) |
E108D |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,248,693 (GRCm39) |
I648K |
probably benign |
Het |
| Suclg1 |
A |
T |
6: 73,240,824 (GRCm39) |
I118F |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,188,160 (GRCm39) |
C869S |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,185,990 (GRCm39) |
I1149T |
probably benign |
Het |
| Tfr2 |
T |
A |
5: 137,569,751 (GRCm39) |
Y82* |
probably null |
Het |
| Tfr2 |
G |
T |
5: 137,581,751 (GRCm39) |
V613L |
probably benign |
Het |
| Tg |
A |
T |
15: 66,568,010 (GRCm39) |
M1305L |
probably benign |
Het |
| Tmem176a |
A |
T |
6: 48,821,039 (GRCm39) |
M170L |
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,342,230 (GRCm39) |
N684S |
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,942,214 (GRCm39) |
I212T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,773,319 (GRCm39) |
V2361A |
possibly damaging |
Het |
| Uqcrc1 |
C |
T |
9: 108,765,827 (GRCm39) |
T14M |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,848 (GRCm39) |
I219V |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,577 (GRCm39) |
H800R |
probably benign |
Het |
| Vmn2r76 |
C |
T |
7: 85,879,374 (GRCm39) |
G309R |
probably benign |
Het |
| Xpc |
A |
T |
6: 91,476,513 (GRCm39) |
C529S |
probably benign |
Het |
| Zfp455 |
T |
A |
13: 67,355,688 (GRCm39) |
S254T |
possibly damaging |
Het |
| Zfp746 |
T |
C |
6: 48,041,823 (GRCm39) |
H301R |
possibly damaging |
Het |
| Zyg11a |
A |
T |
4: 108,049,271 (GRCm39) |
I490N |
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 |
|
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'- ACTGTATCTGAGTGACACCTTG -3'
(R):5'- TGGTCGTTACTCAGAGTGGC -3'
Sequencing Primer
(F):5'- GACACCTTGTCTTTCTTCCCAG -3'
(R):5'- CTCAGAGTGGCCATTCTCTTAATGAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation