Incidental Mutation 'R8269:Pld1'
| ID |
639482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| MMRRC Submission |
067693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8269 (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 G
at 28079388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 63
(N63D)
|
| 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 benign
Transcript: ENSMUST00000067757
AA Change: N63D
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: N63D
| 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: N63D
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: N63D
| 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: N63D
| 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: N63D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000121318
Gene: ENSMUSG00000027695
AA Change: N63D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
80 |
126 |
5e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
T |
C |
14: 8,246,325 (GRCm38) |
T489A |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,121,079 (GRCm39) |
C850S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
| Akap11 |
G |
A |
14: 78,750,818 (GRCm39) |
T523I |
|
Het |
| Amigo2 |
G |
T |
15: 97,144,112 (GRCm39) |
N103K |
possibly damaging |
Het |
| Arfgap3 |
A |
C |
15: 83,194,542 (GRCm39) |
S377A |
probably benign |
Het |
| Arhgap39 |
G |
T |
15: 76,635,942 (GRCm39) |
Q98K |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,059,892 (GRCm39) |
D779G |
probably damaging |
Het |
| Bckdhb |
T |
C |
9: 84,004,417 (GRCm39) |
I388T |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Cd109 |
A |
G |
9: 78,572,964 (GRCm39) |
K496R |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,478,389 (GRCm39) |
F979L |
probably damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,334,803 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,800 (GRCm39) |
S402T |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,182,500 (GRCm39) |
Y211* |
probably null |
Het |
| Dnah6 |
A |
G |
6: 73,145,810 (GRCm39) |
|
probably null |
Het |
| Emc10 |
G |
T |
7: 44,141,408 (GRCm39) |
Q227K |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Exosc4 |
A |
T |
15: 76,211,732 (GRCm39) |
I14L |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,535 (GRCm39) |
T2393A |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,187 (GRCm39) |
H405L |
possibly damaging |
Het |
| Gin1 |
T |
A |
1: 97,710,929 (GRCm39) |
M204K |
probably damaging |
Het |
| Gm57858 |
A |
T |
3: 36,100,862 (GRCm39) |
N103K |
possibly damaging |
Het |
| Gnal |
A |
G |
18: 67,268,693 (GRCm39) |
D193G |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,312,258 (GRCm39) |
R554L |
possibly damaging |
Het |
| Lipc |
A |
G |
9: 70,727,655 (GRCm39) |
L149P |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,388,724 (GRCm39) |
Y2234H |
unknown |
Het |
| Lsm14b |
T |
C |
2: 179,674,407 (GRCm39) |
S317P |
probably damaging |
Het |
| Mapk4 |
G |
C |
18: 74,063,622 (GRCm39) |
F533L |
probably damaging |
Het |
| Mgll |
T |
A |
6: 88,790,930 (GRCm39) |
Y183* |
probably null |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Ncan |
T |
A |
8: 70,560,330 (GRCm39) |
Q879L |
probably benign |
Het |
| Nox4 |
T |
G |
7: 86,955,930 (GRCm39) |
|
probably benign |
Het |
| Or4p18 |
A |
T |
2: 88,232,381 (GRCm39) |
V299D |
probably damaging |
Het |
| Or5p67 |
A |
T |
7: 107,922,776 (GRCm39) |
C36S |
probably benign |
Het |
| Pcdhb10 |
A |
G |
18: 37,547,062 (GRCm39) |
K713E |
probably benign |
Het |
| Phkb |
A |
G |
8: 86,756,211 (GRCm39) |
D835G |
probably benign |
Het |
| Pls1 |
G |
T |
9: 95,644,023 (GRCm39) |
T491K |
probably damaging |
Het |
| Plscr1 |
A |
G |
9: 92,145,095 (GRCm39) |
D35G |
unknown |
Het |
| Slc28a2b |
C |
T |
2: 122,352,169 (GRCm39) |
H336Y |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,339,982 (GRCm39) |
K180R |
probably benign |
Het |
| Suv39h1 |
G |
T |
X: 7,937,270 (GRCm39) |
Q129K |
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,465,169 (GRCm39) |
V73A |
probably benign |
Het |
| Tmem161a |
T |
A |
8: 70,634,608 (GRCm39) |
V421E |
probably benign |
Het |
| Topbp1 |
C |
A |
9: 103,205,792 (GRCm39) |
P810Q |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,425,325 (GRCm39) |
V1717M |
probably benign |
Het |
| Vmn2r55 |
T |
A |
7: 12,404,585 (GRCm39) |
T273S |
possibly damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,423,188 (GRCm39) |
D1062G |
probably damaging |
Het |
| Zcrb1 |
A |
G |
15: 93,295,056 (GRCm39) |
Y27H |
probably benign |
Het |
| Zfp128 |
G |
A |
7: 12,624,663 (GRCm39) |
G344R |
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 |
|
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 |
|
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'- GAGTCTCCTGGATGAAACCG -3'
(R):5'- GTGGTAACCAATGCCCAACC -3'
Sequencing Primer
(F):5'- CGTCATCATCAGGTAGTGGCATC -3'
(R):5'- TCAGGGGGTCAGAGGGTC -3'
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| Posted On |
2020-07-28 |
Incidental Mutation