Incidental Mutation 'R0282:Pld1'
| ID |
37598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| MMRRC Submission |
038504-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0282 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28132422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 537
(I537F)
|
| 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: I537F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: I537F
| 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: I537F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: I537F
| 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 |
unknown
Transcript: ENSMUST00000123539
AA Change: I537F
|
| SMART Domains |
Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: I537F
| 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 |
noncoding transcript
Transcript: ENSMUST00000131842
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148827
AA Change: I348F
|
| SMART Domains |
Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: I348F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195622
|
| Meta Mutation Damage Score |
0.0638 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Afap1l2 |
A |
G |
19: 56,904,653 (GRCm39) |
S549P |
possibly damaging |
Het |
| Alcam |
A |
T |
16: 52,116,104 (GRCm39) |
C157S |
probably damaging |
Het |
| Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
G |
A |
8: 71,933,258 (GRCm39) |
|
probably benign |
Het |
| Atr |
T |
C |
9: 95,744,851 (GRCm39) |
V56A |
probably benign |
Het |
| Aurkc |
T |
A |
7: 7,005,427 (GRCm39) |
|
probably null |
Het |
| Bnip3 |
T |
C |
7: 138,499,759 (GRCm39) |
D76G |
probably damaging |
Het |
| Cbr1 |
A |
G |
16: 93,407,022 (GRCm39) |
E246G |
possibly damaging |
Het |
| Ccdc157 |
G |
T |
11: 4,096,708 (GRCm39) |
A449D |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,810,483 (GRCm39) |
V26D |
probably benign |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Crk |
G |
T |
11: 75,594,195 (GRCm39) |
G261C |
probably damaging |
Het |
| Ctbp1 |
A |
G |
5: 33,408,200 (GRCm39) |
|
probably null |
Het |
| Ctnna1 |
G |
A |
18: 35,377,175 (GRCm39) |
V572I |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,031,589 (GRCm39) |
Y1669C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,955,130 (GRCm39) |
F2053S |
probably damaging |
Het |
| Dner |
G |
A |
1: 84,383,686 (GRCm39) |
T566M |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,423,101 (GRCm39) |
|
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,245,751 (GRCm39) |
V223A |
probably benign |
Het |
| Fam169a |
A |
G |
13: 97,234,223 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
G |
A |
14: 103,332,661 (GRCm39) |
H106Y |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,012,200 (GRCm39) |
V106A |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,578,972 (GRCm39) |
R654* |
probably null |
Het |
| Gm7589 |
G |
A |
9: 59,053,288 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi202b |
A |
T |
1: 173,804,926 (GRCm39) |
S9T |
probably benign |
Het |
| Ipmk |
G |
C |
10: 71,208,661 (GRCm39) |
S149T |
probably benign |
Het |
| Irgm2 |
A |
G |
11: 58,110,345 (GRCm39) |
E24G |
probably benign |
Het |
| Itga2b |
A |
C |
11: 102,351,672 (GRCm39) |
V551G |
probably damaging |
Het |
| Itgad |
C |
T |
7: 127,789,150 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
T |
A |
17: 53,032,879 (GRCm39) |
F55L |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,110,760 (GRCm39) |
|
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,986,573 (GRCm39) |
Y147C |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,131,058 (GRCm39) |
F298L |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,662,617 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
T |
C |
4: 130,673,238 (GRCm39) |
S69P |
probably damaging |
Het |
| Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,884 (GRCm39) |
V257A |
possibly damaging |
Het |
| Mybpc3 |
G |
C |
2: 90,954,369 (GRCm39) |
|
probably benign |
Het |
| Mycn |
A |
G |
12: 12,987,314 (GRCm39) |
V361A |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,793,253 (GRCm39) |
T1277A |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,141,797 (GRCm39) |
T416A |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,647,720 (GRCm39) |
V203A |
possibly damaging |
Het |
| Or2k2 |
A |
G |
4: 58,785,344 (GRCm39) |
I126T |
probably damaging |
Het |
| Or4c104 |
G |
A |
2: 88,586,800 (GRCm39) |
T73I |
probably damaging |
Het |
| Or56b1b |
T |
A |
7: 108,164,684 (GRCm39) |
Q106L |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,926,917 (GRCm39) |
T1222I |
possibly damaging |
Het |
| P4ha1 |
C |
T |
10: 59,172,970 (GRCm39) |
T23M |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,312,780 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
C |
A |
12: 30,034,439 (GRCm39) |
S8* |
probably null |
Het |
| Rnf135 |
A |
T |
11: 80,084,784 (GRCm39) |
I186F |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,027,887 (GRCm39) |
|
probably benign |
Het |
| Rph3a |
C |
A |
5: 121,101,973 (GRCm39) |
G88* |
probably null |
Het |
| Sarm1 |
G |
A |
11: 78,365,806 (GRCm39) |
Q740* |
probably null |
Het |
| Setd1b |
C |
A |
5: 123,299,080 (GRCm39) |
|
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Slc2a4 |
A |
T |
11: 69,837,181 (GRCm39) |
V85E |
probably damaging |
Het |
| Swi5 |
A |
G |
2: 32,170,766 (GRCm39) |
Y54H |
probably damaging |
Het |
| Sycp1 |
A |
G |
3: 102,823,111 (GRCm39) |
|
probably benign |
Het |
| Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tmem67 |
G |
A |
4: 12,087,930 (GRCm39) |
T72M |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,737 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Ttll5 |
T |
C |
12: 86,042,827 (GRCm39) |
Y1128H |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,908,680 (GRCm39) |
|
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,668 (GRCm39) |
M152K |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,343,724 (GRCm39) |
D1988E |
probably damaging |
Het |
| Zfp420 |
A |
G |
7: 29,575,105 (GRCm39) |
I442V |
probably benign |
Het |
| Zyx |
A |
G |
6: 42,332,939 (GRCm39) |
E363G |
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 |
|
|
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 |
|
|
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'- CATGTGGCTGAAGAACTCACCACC -3'
(R):5'- TGTCCACTGAATGCCACCACTG -3'
Sequencing Primer
(F):5'- CTGTGGCTTCCCTGAGATTCTATG -3'
(R):5'- GAATGCCACCACTGATCTTTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation