Incidental Mutation 'R7440:Pld1'
| ID |
576873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| MMRRC Submission |
045516-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7440 (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 G
at 28095419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 251
(S251A)
|
| 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 benign
Transcript: ENSMUST00000067757
AA Change: S251A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: S251A
| 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: S251A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: S251A
| 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: S251A
| 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: S62A
| 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 |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (69/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
G |
A |
3: 153,628,626 (GRCm39) |
T403I |
probably damaging |
Het |
| Adat1 |
A |
T |
8: 112,716,530 (GRCm39) |
M64K |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 68,944,786 (GRCm39) |
V199M |
probably damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,941,636 (GRCm39) |
S508P |
possibly damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,529,356 (GRCm39) |
|
probably null |
Het |
| Bicral |
C |
T |
17: 47,136,710 (GRCm39) |
G167R |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,620,174 (GRCm39) |
K727E |
possibly damaging |
Het |
| Cep350 |
T |
G |
1: 155,816,518 (GRCm39) |
K332N |
probably damaging |
Het |
| Cfap68 |
A |
G |
9: 50,676,213 (GRCm39) |
V35A |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,469,108 (GRCm39) |
N1811S |
probably benign |
Het |
| Chpf |
A |
T |
1: 75,452,245 (GRCm39) |
V565D |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,098,652 (GRCm39) |
L489H |
probably damaging |
Het |
| Cntln |
C |
A |
4: 84,981,453 (GRCm39) |
T877K |
possibly damaging |
Het |
| Cog4 |
T |
C |
8: 111,606,338 (GRCm39) |
V630A |
probably benign |
Het |
| Col6a5 |
G |
T |
9: 105,758,630 (GRCm39) |
S2192* |
probably null |
Het |
| Cry2 |
G |
A |
2: 92,243,983 (GRCm39) |
R397W |
probably damaging |
Het |
| Cstdc2 |
A |
C |
2: 148,688,911 (GRCm39) |
C109W |
probably damaging |
Het |
| Cyp1b1 |
T |
C |
17: 80,020,986 (GRCm39) |
N252S |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,356,977 (GRCm39) |
I91V |
probably benign |
Het |
| Dnajb6 |
G |
A |
5: 29,962,857 (GRCm39) |
A256T |
possibly damaging |
Het |
| Epm2a |
T |
G |
10: 11,266,619 (GRCm39) |
Y121* |
probably null |
Het |
| Erlec1 |
T |
C |
11: 30,900,818 (GRCm39) |
I117V |
possibly damaging |
Het |
| Exoc8 |
T |
C |
8: 125,622,520 (GRCm39) |
M616V |
probably benign |
Het |
| Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
| Fuz |
T |
C |
7: 44,545,996 (GRCm39) |
L46P |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,444,278 (GRCm39) |
S422P |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,651,981 (GRCm39) |
I813V |
probably benign |
Het |
| Jak3 |
T |
A |
8: 72,133,362 (GRCm39) |
S352T |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
| Lrrc63 |
T |
C |
14: 75,358,453 (GRCm39) |
N400D |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,940,602 (GRCm39) |
D760G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,349,239 (GRCm39) |
L3976* |
probably null |
Het |
| Map7 |
C |
T |
10: 20,137,605 (GRCm39) |
A259V |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,565,063 (GRCm39) |
D170E |
possibly damaging |
Het |
| Mgat5b |
T |
A |
11: 116,859,271 (GRCm39) |
Y34* |
probably null |
Het |
| Mgst1 |
A |
G |
6: 138,127,842 (GRCm39) |
K68R |
probably benign |
Het |
| Miga1 |
T |
A |
3: 152,043,683 (GRCm39) |
|
probably null |
Het |
| Mrps33 |
G |
A |
6: 39,779,413 (GRCm39) |
P94L |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,414,033 (GRCm39) |
G1068C |
possibly damaging |
Het |
| Ndufaf7 |
C |
T |
17: 79,249,546 (GRCm39) |
H148Y |
probably damaging |
Het |
| Nkx6-3 |
A |
T |
8: 23,643,770 (GRCm39) |
D57V |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,983,150 (GRCm39) |
D1272G |
probably damaging |
Het |
| Oit3 |
T |
C |
10: 59,265,392 (GRCm39) |
N291S |
probably damaging |
Het |
| Or1b1 |
A |
T |
2: 36,995,181 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Polr1h |
T |
A |
17: 37,268,736 (GRCm39) |
L75F |
probably benign |
Het |
| Potefam3a |
C |
T |
8: 20,356,948 (GRCm38) |
S254N |
unknown |
Het |
| Ppfibp1 |
T |
C |
6: 146,921,001 (GRCm39) |
S580P |
probably benign |
Het |
| Prdx6b |
A |
T |
2: 80,123,560 (GRCm39) |
D123V |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,731,256 (GRCm39) |
L1050P |
possibly damaging |
Het |
| Rcc1 |
A |
C |
4: 132,065,110 (GRCm39) |
S138A |
probably damaging |
Het |
| Rimbp3 |
G |
T |
16: 17,031,065 (GRCm39) |
R1496S |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,429,054 (GRCm39) |
V371A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,830,642 (GRCm39) |
L260P |
possibly damaging |
Het |
| Slc17a1 |
G |
A |
13: 24,062,466 (GRCm39) |
S211N |
possibly damaging |
Het |
| Slc39a11 |
C |
T |
11: 113,452,918 (GRCm39) |
V8M |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,365,012 (GRCm39) |
I78T |
probably benign |
Het |
| Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
| Syt17 |
A |
T |
7: 117,981,107 (GRCm39) |
V462E |
probably damaging |
Het |
| Tlr11 |
T |
A |
14: 50,598,801 (GRCm39) |
D262E |
probably benign |
Het |
| Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
| Trpv3 |
C |
A |
11: 73,168,800 (GRCm39) |
Q87K |
probably benign |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,281 (GRCm39) |
Y170H |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,584,296 (GRCm39) |
L562P |
probably damaging |
Het |
| Usp3 |
G |
T |
9: 66,437,537 (GRCm39) |
N299K |
probably benign |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,556 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,694,539 (GRCm39) |
Y436F |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,854,981 (GRCm39) |
I2220T |
|
Het |
| Zfp936 |
T |
A |
7: 42,836,685 (GRCm39) |
V32D |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,751,063 (GRCm39) |
C259R |
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 |
|
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'- ATATGGTCACTGGCTCTGAGG -3'
(R):5'- TTTCATCCTAGAGTCTGGGAGCTG -3'
Sequencing Primer
(F):5'- CTCTGAGGATGATTGAGCCAAGTG -3'
(R):5'- GTGGTGAACATCTGCTATGCCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation