Incidental Mutation 'R5182:Pld1'
| ID |
397591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| MMRRC Submission |
042853-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5182 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28099230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 299
(I299T)
|
| 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 damaging
Transcript: ENSMUST00000067757
AA Change: I299T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: I299T
| 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: I299T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: I299T
| 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: I299T
|
| SMART Domains |
Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: I299T
| 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 |
unknown
Transcript: ENSMUST00000148827
AA Change: I110T
|
| SMART Domains |
Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: I110T
| 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: ENSMUST00000149017
|
| Meta Mutation Damage Score |
0.7309 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
A |
G |
19: 21,608,129 (GRCm39) |
M1T |
probably null |
Het |
| Abcg8 |
T |
C |
17: 85,000,172 (GRCm39) |
L243P |
probably damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,327,912 (GRCm39) |
T811A |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,503,919 (GRCm39) |
N188S |
probably null |
Het |
| Bak1 |
G |
A |
17: 27,241,722 (GRCm39) |
P65L |
possibly damaging |
Het |
| Cep350 |
A |
C |
1: 155,733,854 (GRCm39) |
L3013R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,533,776 (GRCm39) |
I533T |
probably damaging |
Het |
| Col6a5 |
C |
A |
9: 105,734,531 (GRCm39) |
E2637* |
probably null |
Het |
| Coq5 |
G |
A |
5: 115,417,815 (GRCm39) |
R15H |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,311,424 (GRCm39) |
I1801S |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dpf3 |
T |
C |
12: 83,417,370 (GRCm39) |
E34G |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,218,167 (GRCm39) |
Q1536K |
probably benign |
Het |
| Eeig2 |
T |
C |
3: 108,892,667 (GRCm39) |
K173E |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,562,971 (GRCm39) |
|
probably null |
Het |
| Fignl1 |
A |
T |
11: 11,751,717 (GRCm39) |
I446N |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,784,032 (GRCm39) |
C845* |
probably null |
Het |
| Gfm2 |
T |
C |
13: 97,299,401 (GRCm39) |
V347A |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,168,053 (GRCm39) |
|
probably null |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
C |
A |
15: 63,765,653 (GRCm39) |
V299F |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,450 (GRCm39) |
R3229S |
unknown |
Het |
| Icam5 |
A |
G |
9: 20,946,106 (GRCm39) |
T313A |
probably benign |
Het |
| Ift172 |
T |
A |
5: 31,424,958 (GRCm39) |
D668V |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,365,066 (GRCm39) |
C322* |
probably null |
Het |
| Klk6 |
A |
G |
7: 43,478,084 (GRCm39) |
K152R |
probably benign |
Het |
| Man1a2 |
A |
C |
3: 100,554,333 (GRCm39) |
I250S |
probably damaging |
Het |
| Nkpd1 |
A |
G |
7: 19,257,181 (GRCm39) |
Y170C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,629,801 (GRCm39) |
|
probably null |
Het |
| Or2y3 |
A |
G |
17: 38,393,005 (GRCm39) |
M288T |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,176 (GRCm39) |
D104E |
probably benign |
Het |
| Pax4 |
C |
T |
6: 28,444,368 (GRCm39) |
E229K |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,105 (GRCm39) |
I196T |
possibly damaging |
Het |
| Pnma1 |
T |
C |
12: 84,193,819 (GRCm39) |
I295V |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,370,485 (GRCm39) |
L28P |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,174 (GRCm38) |
T632A |
probably benign |
Het |
| Rab43 |
A |
G |
6: 87,771,637 (GRCm39) |
*118R |
probably null |
Het |
| Rabep1 |
C |
T |
11: 70,795,454 (GRCm39) |
R227* |
probably null |
Het |
| Rad51c |
T |
G |
11: 87,288,545 (GRCm39) |
I213L |
possibly damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,169,287 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,585,495 (GRCm39) |
E2735G |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,548,995 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
G |
A |
2: 129,457,652 (GRCm39) |
R242H |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,671,238 (GRCm39) |
T983M |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,626,506 (GRCm39) |
Y252H |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,887,877 (GRCm39) |
T482I |
probably benign |
Het |
| St7 |
A |
G |
6: 17,846,236 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tas2r140 |
A |
T |
6: 40,468,866 (GRCm39) |
Q232L |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,222 (GRCm39) |
K270N |
probably damaging |
Het |
| Tiam2 |
G |
A |
17: 3,488,996 (GRCm39) |
G768D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,700,773 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
A |
C |
4: 149,465,699 (GRCm39) |
S250R |
probably null |
Het |
| Ubxn2a |
G |
A |
12: 4,930,634 (GRCm39) |
A242V |
probably damaging |
Het |
| Usp10 |
G |
A |
8: 120,683,420 (GRCm39) |
V764I |
possibly damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,667 (GRCm39) |
L182P |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,632 (GRCm39) |
V616A |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,672,863 (GRCm39) |
V1303A |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,637 (GRCm39) |
T1315K |
possibly damaging |
Het |
| Zfp936 |
G |
A |
7: 42,839,331 (GRCm39) |
C266Y |
probably damaging |
Het |
| Zscan20 |
G |
T |
4: 128,480,504 (GRCm39) |
N662K |
possibly 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 |
|
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'- AGTTACTTGGCTTTGAACCCTC -3'
(R):5'- GCAGGCATCTGTATTCACCC -3'
Sequencing Primer
(F):5'- TGGCTTTGAACCCTCCTATTG -3'
(R):5'- AGGCATCTGTATTCACCCACATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation