Incidental Mutation 'R3522:Pld1'
| ID |
267516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3522 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28085396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 184
(E184G)
|
| 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 |
probably damaging
Transcript: ENSMUST00000067757
AA Change: E184G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: E184G
| 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: E184G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: E184G
| 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: ENSMUST00000123539
AA Change: E184G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: E184G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121318
Gene: ENSMUSG00000027695
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
80 |
126 |
5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148827
|
| SMART Domains |
Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
| 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 |
0.7382 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (72/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
G |
3: 96,592,378 (GRCm39) |
E888G |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,004,918 (GRCm39) |
F150S |
probably damaging |
Het |
| Atp10d |
G |
T |
5: 72,396,500 (GRCm39) |
R235L |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,653,055 (GRCm39) |
V2A |
possibly damaging |
Het |
| Cand1 |
A |
T |
10: 119,075,102 (GRCm39) |
L15Q |
probably benign |
Het |
| Cavin3 |
C |
A |
7: 105,130,350 (GRCm39) |
G154V |
probably benign |
Het |
| Ccdc73 |
A |
T |
2: 104,821,830 (GRCm39) |
D593V |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,168,647 (GRCm39) |
K161E |
probably damaging |
Het |
| Chil4 |
A |
T |
3: 106,111,056 (GRCm39) |
N279K |
probably benign |
Het |
| Chst13 |
T |
G |
6: 90,295,245 (GRCm39) |
D56A |
probably damaging |
Het |
| Cnn1 |
C |
A |
9: 22,010,664 (GRCm39) |
H5N |
probably benign |
Het |
| Cpsf4l |
T |
A |
11: 113,593,319 (GRCm39) |
K88N |
probably damaging |
Het |
| Ctnnbl1 |
G |
T |
2: 157,713,113 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
C |
1: 53,657,275 (GRCm39) |
F834V |
probably damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,461,163 (GRCm39) |
S182P |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,634,970 (GRCm39) |
T180A |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,334 (GRCm39) |
I2082N |
unknown |
Het |
| Gm4968 |
A |
G |
6: 127,210,725 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 116,761,747 (GRCm39) |
H612Q |
probably benign |
Het |
| Gsg1 |
A |
T |
6: 135,218,251 (GRCm39) |
V212D |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,651,430 (GRCm39) |
V1111A |
probably damaging |
Het |
| Hormad1 |
A |
T |
3: 95,483,596 (GRCm39) |
Q136L |
probably benign |
Het |
| Ifi35 |
T |
A |
11: 101,348,511 (GRCm39) |
S147R |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,754,624 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
C |
T |
3: 87,998,089 (GRCm39) |
A282V |
probably null |
Het |
| Jmy |
T |
C |
13: 93,590,558 (GRCm39) |
D515G |
probably damaging |
Het |
| Kctd10 |
G |
A |
5: 114,512,984 (GRCm39) |
R64C |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,040,757 (GRCm39) |
V121A |
probably damaging |
Het |
| Lcn3 |
G |
A |
2: 25,656,133 (GRCm39) |
V63M |
possibly damaging |
Het |
| Lmx1b |
T |
A |
2: 33,529,543 (GRCm39) |
Y72F |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,389,424 (GRCm39) |
D3164G |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,758,927 (GRCm39) |
V222M |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,958,702 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
C |
A |
18: 32,143,132 (GRCm39) |
V189F |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,250,355 (GRCm39) |
S533P |
probably damaging |
Het |
| Ndrg3 |
T |
C |
2: 156,785,947 (GRCm39) |
D164G |
probably damaging |
Het |
| Nol11 |
C |
T |
11: 107,064,454 (GRCm39) |
C500Y |
possibly damaging |
Het |
| Nsd3 |
A |
G |
8: 26,196,642 (GRCm39) |
N1208D |
probably benign |
Het |
| Nup155 |
C |
T |
15: 8,186,162 (GRCm39) |
|
probably benign |
Het |
| Or5ak20 |
A |
T |
2: 85,183,347 (GRCm39) |
C308S |
probably benign |
Het |
| Or6c38 |
A |
G |
10: 128,929,711 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or8b47 |
A |
G |
9: 38,435,081 (GRCm39) |
T18A |
probably damaging |
Het |
| Or8b54 |
A |
T |
9: 38,687,016 (GRCm39) |
D155V |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,844,684 (GRCm39) |
L1425P |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,279,250 (GRCm39) |
Y777H |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,314,335 (GRCm39) |
|
probably null |
Het |
| Ptgfrn |
T |
C |
3: 100,950,718 (GRCm39) |
E865G |
probably damaging |
Het |
| Ptpn13 |
G |
T |
5: 103,737,720 (GRCm39) |
|
probably benign |
Het |
| Pygb |
G |
T |
2: 150,670,473 (GRCm39) |
V763F |
probably benign |
Het |
| Ros1 |
A |
C |
10: 51,967,091 (GRCm39) |
Y1705* |
probably null |
Het |
| Sec61a2 |
A |
G |
2: 5,898,027 (GRCm39) |
F5L |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,614,102 (GRCm39) |
|
probably null |
Het |
| Sntg2 |
A |
G |
12: 30,362,566 (GRCm39) |
V60A |
probably damaging |
Het |
| Sppl2a |
A |
G |
2: 126,762,242 (GRCm39) |
C280R |
possibly damaging |
Het |
| Srrm4 |
A |
C |
5: 116,584,603 (GRCm39) |
M1R |
probably null |
Het |
| Sult1c2 |
T |
C |
17: 54,279,043 (GRCm39) |
E91G |
probably damaging |
Het |
| Themis2 |
C |
G |
4: 132,512,906 (GRCm39) |
R440P |
probably damaging |
Het |
| Tmem229a |
A |
G |
6: 24,955,058 (GRCm39) |
L232P |
probably benign |
Het |
| Trappc1 |
T |
C |
11: 69,215,248 (GRCm39) |
F43L |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,951,708 (GRCm39) |
Y982N |
possibly damaging |
Het |
| Trpv6 |
A |
T |
6: 41,604,339 (GRCm39) |
M139K |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,640,057 (GRCm39) |
|
probably null |
Het |
| Vmn1r184 |
T |
A |
7: 25,967,008 (GRCm39) |
Y251* |
probably null |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,544 (GRCm39) |
N76D |
possibly damaging |
Het |
| Vmn1r71 |
C |
A |
7: 10,481,792 (GRCm39) |
V233F |
probably benign |
Het |
| Vps13a |
A |
C |
19: 16,743,857 (GRCm39) |
|
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,420,358 (GRCm39) |
S756G |
probably damaging |
Het |
| Wdr36 |
T |
A |
18: 32,994,538 (GRCm39) |
|
probably null |
Het |
| Wdr86 |
A |
G |
5: 24,923,305 (GRCm39) |
V129A |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,576,940 (GRCm39) |
L47S |
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 |
|
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'- AGAGGTTTAGCTAACACTCCAAG -3'
(R):5'- GTTATAAACTGGATCGAGACTCTCC -3'
Sequencing Primer
(F):5'- GGTTTAGCTAACACTCCAAGAGAAC -3'
(R):5'- GGATCGAGACTCTCCAAGCAATTTTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation