Incidental Mutation 'R0117:Pld2'
| ID |
20887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld2
|
| Ensembl Gene |
ENSMUSG00000020828 |
| Gene Name |
phospholipase D2 |
| Synonyms |
|
| MMRRC Submission |
038403-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R0117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
70430890-70448936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70448214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 887
(R887Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018429]
[ENSMUST00000108557]
|
| AlphaFold |
P97813 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018429
AA Change: R876Q
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: R876Q
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
64 |
192 |
2.12e-20 |
SMART |
|
PH
|
203 |
313 |
4.75e-6 |
SMART |
|
PLDc
|
437 |
464 |
8.44e-4 |
SMART |
|
PLDc
|
751 |
778 |
4.12e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108557
AA Change: R887Q
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: R887Q
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
64 |
192 |
2.12e-20 |
SMART |
|
PH
|
203 |
313 |
4.75e-6 |
SMART |
|
PLDc
|
437 |
464 |
8.44e-4 |
SMART |
|
PLDc
|
762 |
789 |
4.12e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179806
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.1%
|
| Validation Efficiency |
95% (59/62) |
| MGI Phenotype |
FUNCTION: This gene is a member of the phospholipase D (PLD) superfamily. The encoded protein catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. Phosphatidic acid is an essential intracellular lipid second messenger for many signaling pathways and has been implicated in a variety of physiological processes including cytoskeletal organization and cell proliferation. A similar gene in human may also function as a guanine nucleotide exchange factor (GEF) for the small GTPase Rac2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out fail to exhibit Abeta42 suppression of LTP and show altered brain phosphatidic acid levels. Mice homozygous for a different knock-out allele show normal platelet function, hemostasis and thrombus formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
A |
T |
17: 33,999,776 (GRCm39) |
I141K |
probably damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,194 (GRCm39) |
D102E |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,947,368 (GRCm39) |
T486A |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,640,817 (GRCm39) |
T624A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,983,808 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
C |
18: 67,759,744 (GRCm39) |
Y323C |
possibly damaging |
Het |
| CK137956 |
T |
A |
4: 127,840,585 (GRCm39) |
T374S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,539 (GRCm39) |
F359I |
probably benign |
Het |
| Cyp4f13 |
G |
T |
17: 33,149,580 (GRCm39) |
H194Q |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,240,016 (GRCm39) |
D667E |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,106,037 (GRCm39) |
R716* |
probably null |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
A |
13: 45,670,560 (GRCm39) |
|
probably null |
Het |
| Gsta5 |
C |
T |
9: 78,211,700 (GRCm39) |
T154I |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,863,359 (GRCm39) |
|
probably benign |
Het |
| Htr2a |
G |
A |
14: 74,882,533 (GRCm39) |
R173H |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,082,005 (GRCm39) |
N979S |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,670 (GRCm39) |
Y417C |
probably damaging |
Het |
| Lmf1 |
G |
T |
17: 25,874,965 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,790,036 (GRCm39) |
R659C |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,413,832 (GRCm39) |
V416A |
possibly damaging |
Het |
| Mgarp |
G |
T |
3: 51,304,133 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
G |
A |
11: 101,891,399 (GRCm39) |
P580S |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Ninl |
G |
A |
2: 150,779,593 (GRCm39) |
R269W |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,595 (GRCm39) |
E2G |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,056,146 (GRCm39) |
I250N |
probably damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,214 (GRCm39) |
I221F |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,244,561 (GRCm39) |
L1173* |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,139,979 (GRCm39) |
E314G |
probably damaging |
Het |
| Peds1 |
A |
G |
2: 167,486,678 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,623,003 (GRCm39) |
M1V |
probably null |
Het |
| Pkdrej |
T |
A |
15: 85,700,300 (GRCm39) |
|
probably null |
Het |
| Plch2 |
T |
A |
4: 155,069,815 (GRCm39) |
|
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,934,286 (GRCm39) |
D838G |
possibly damaging |
Het |
| Postn |
C |
T |
3: 54,290,902 (GRCm39) |
|
probably benign |
Het |
| Prl8a8 |
T |
A |
13: 27,692,473 (GRCm39) |
I172F |
probably damaging |
Het |
| Psmc4 |
A |
T |
7: 27,742,165 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,451,897 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 78,986,484 (GRCm39) |
S1017P |
probably benign |
Het |
| Rbak |
G |
T |
5: 143,159,387 (GRCm39) |
Y555* |
probably null |
Het |
| Serpina1c |
T |
G |
12: 103,861,271 (GRCm39) |
*414C |
probably null |
Het |
| Sntb1 |
A |
G |
15: 55,769,749 (GRCm39) |
V80A |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,944,873 (GRCm39) |
V884A |
probably benign |
Het |
| Stmnd1 |
C |
A |
13: 46,438,962 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Tgm5 |
C |
T |
2: 120,905,583 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
T |
C |
2: 174,299,577 (GRCm39) |
S420P |
probably benign |
Het |
| Tvp23b |
T |
C |
11: 62,770,430 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,347,464 (GRCm39) |
A3235V |
possibly damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,488,427 (GRCm39) |
S122P |
possibly damaging |
Het |
|
| Other mutations in Pld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00825:Pld2
|
APN |
11 |
70,442,006 (GRCm39) |
nonsense |
probably null |
|
|
IGL01094:Pld2
|
APN |
11 |
70,432,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01696:Pld2
|
APN |
11 |
70,433,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02165:Pld2
|
APN |
11 |
70,446,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Pld2
|
APN |
11 |
70,431,751 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02712:Pld2
|
APN |
11 |
70,447,905 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03013:Pld2
|
APN |
11 |
70,432,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0130:Pld2
|
UTSW |
11 |
70,445,174 (GRCm39) |
missense |
probably benign |
|
|
R0508:Pld2
|
UTSW |
11 |
70,443,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0973:Pld2
|
UTSW |
11 |
70,447,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Pld2
|
UTSW |
11 |
70,447,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Pld2
|
UTSW |
11 |
70,447,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Pld2
|
UTSW |
11 |
70,435,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2087:Pld2
|
UTSW |
11 |
70,433,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2181:Pld2
|
UTSW |
11 |
70,433,815 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2379:Pld2
|
UTSW |
11 |
70,445,140 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3772:Pld2
|
UTSW |
11 |
70,434,949 (GRCm39) |
unclassified |
probably benign |
|
|
R3949:Pld2
|
UTSW |
11 |
70,444,180 (GRCm39) |
missense |
probably benign |
|
|
R4028:Pld2
|
UTSW |
11 |
70,445,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Pld2
|
UTSW |
11 |
70,445,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4160:Pld2
|
UTSW |
11 |
70,432,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Pld2
|
UTSW |
11 |
70,432,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Pld2
|
UTSW |
11 |
70,432,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Pld2
|
UTSW |
11 |
70,446,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5280:Pld2
|
UTSW |
11 |
70,443,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Pld2
|
UTSW |
11 |
70,448,387 (GRCm39) |
makesense |
probably null |
|
|
R5773:Pld2
|
UTSW |
11 |
70,446,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5900:Pld2
|
UTSW |
11 |
70,446,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6249:Pld2
|
UTSW |
11 |
70,446,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Pld2
|
UTSW |
11 |
70,445,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Pld2
|
UTSW |
11 |
70,431,933 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6922:Pld2
|
UTSW |
11 |
70,444,273 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7213:Pld2
|
UTSW |
11 |
70,444,198 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7754:Pld2
|
UTSW |
11 |
70,443,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8122:Pld2
|
UTSW |
11 |
70,432,259 (GRCm39) |
nonsense |
probably null |
|
|
R8383:Pld2
|
UTSW |
11 |
70,442,255 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8489:Pld2
|
UTSW |
11 |
70,445,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8675:Pld2
|
UTSW |
11 |
70,445,713 (GRCm39) |
missense |
probably null |
0.97 |
|
R8709:Pld2
|
UTSW |
11 |
70,444,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8802:Pld2
|
UTSW |
11 |
70,446,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9124:Pld2
|
UTSW |
11 |
70,431,696 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9273:Pld2
|
UTSW |
11 |
70,448,234 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9606:Pld2
|
UTSW |
11 |
70,445,893 (GRCm39) |
nonsense |
probably null |
|
|
R9617:Pld2
|
UTSW |
11 |
70,447,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATGCCACCATCTATGAGCAGG -3'
(R):5'- CAAGCCTCAGCTATGTCCACACTTC -3'
Sequencing Primer
(F):5'- TAATTAGGATTCGGTAGCCCAG -3'
(R):5'- TCAGCTATGTCCACACTTCTAAAGG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation