Incidental Mutation 'R9549:Pld1'
| ID |
720288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9549 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28125381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 432
(E432K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067757]
[ENSMUST00000120834]
[ENSMUST00000123539]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067757
AA Change: E432K
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: E432K
| 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: E432K
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: E432K
| 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: E432K
| 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: E243K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,742,076 (GRCm39) |
Y491C |
probably damaging |
Het |
| B3gnt6 |
G |
T |
7: 97,843,656 (GRCm39) |
D101E |
possibly damaging |
Het |
| Bnip5 |
A |
T |
17: 29,124,647 (GRCm39) |
H9Q |
|
Het |
| Ccnt1 |
A |
G |
15: 98,441,574 (GRCm39) |
S565P |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,903,111 (GRCm39) |
M2043V |
probably benign |
Het |
| Ehbp1 |
T |
G |
11: 22,012,788 (GRCm39) |
D941A |
probably benign |
Het |
| Fam171b |
G |
T |
2: 83,643,199 (GRCm39) |
R36L |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,676,672 (GRCm39) |
I33L |
|
Het |
| Fbxo15 |
T |
C |
18: 84,980,805 (GRCm39) |
V260A |
possibly damaging |
Het |
| Fez1 |
G |
A |
9: 36,780,211 (GRCm39) |
G336E |
possibly damaging |
Het |
| Gm7579 |
CTGTGTG |
CTGTG |
7: 141,765,736 (GRCm39) |
|
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Isoc2a |
A |
G |
7: 4,895,058 (GRCm39) |
E162G |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,398,191 (GRCm39) |
S313P |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,901,473 (GRCm39) |
S593T |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,545,978 (GRCm39) |
Y592C |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,771,255 (GRCm39) |
T778A |
probably benign |
Het |
| Mapk14 |
T |
A |
17: 28,934,415 (GRCm39) |
V102E |
probably damaging |
Het |
| Maz |
A |
G |
7: 126,625,578 (GRCm39) |
F5S |
unknown |
Het |
| Meioc |
C |
T |
11: 102,556,550 (GRCm39) |
|
probably benign |
Het |
| Mlec |
A |
G |
5: 115,288,271 (GRCm39) |
V195A |
probably benign |
Het |
| Mlh3 |
T |
C |
12: 85,313,249 (GRCm39) |
D979G |
probably benign |
Het |
| Mto1 |
G |
A |
9: 78,368,961 (GRCm39) |
S541N |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,858,762 (GRCm39) |
G1160E |
probably damaging |
Het |
| Nfkb2 |
T |
A |
19: 46,298,111 (GRCm39) |
I496N |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,848,337 (GRCm39) |
D456G |
probably benign |
Het |
| Or5an11 |
T |
A |
19: 12,246,408 (GRCm39) |
F271L |
probably benign |
Het |
| Paqr5 |
A |
T |
9: 61,863,543 (GRCm39) |
C260S |
possibly damaging |
Het |
| Pip5k1b |
C |
A |
19: 24,356,413 (GRCm39) |
C175F |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,419,474 (GRCm39) |
E43G |
probably damaging |
Het |
| Plekhb2 |
A |
G |
1: 34,902,552 (GRCm39) |
D64G |
probably benign |
Het |
| Plekhh3 |
T |
A |
11: 101,056,015 (GRCm39) |
|
probably null |
Het |
| Prex2 |
A |
T |
1: 11,256,915 (GRCm39) |
H1209L |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,005,320 (GRCm39) |
Y1330C |
probably damaging |
Het |
| Rmdn2 |
T |
G |
17: 79,935,339 (GRCm39) |
S151A |
|
Het |
| Sdk1 |
A |
C |
5: 141,940,657 (GRCm39) |
D475A |
possibly damaging |
Het |
| Serpina1e |
A |
T |
12: 103,917,243 (GRCm39) |
L142Q |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,902,629 (GRCm39) |
D346V |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,795,254 (GRCm39) |
L431P |
unknown |
Het |
| St13 |
G |
A |
15: 81,259,063 (GRCm39) |
A207V |
possibly damaging |
Het |
| Thra |
T |
C |
11: 98,653,772 (GRCm39) |
I201T |
probably benign |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,853,394 (GRCm39) |
Q1805* |
probably null |
Het |
| Uxs1 |
A |
T |
1: 43,810,892 (GRCm39) |
Y231* |
probably null |
Het |
| Vash1 |
A |
T |
12: 86,735,870 (GRCm39) |
D252V |
probably damaging |
Het |
| Vmn1r61 |
A |
C |
7: 5,614,185 (GRCm39) |
V43G |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,493 (GRCm39) |
H383R |
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,448,023 (GRCm39) |
N267S |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,685,844 (GRCm39) |
E232G |
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 |
|
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 |
|
|
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'- ATCATGTGTGTCATTCTGTGCC -3'
(R):5'- ATGTGTGAAATACCCATGCCTTTG -3'
Sequencing Primer
(F):5'- GTGCCTGCTCGCTAACTG -3'
(R):5'- GTGAAATACCCATGCCTTTGTATAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation