Incidental Mutation 'R8383:Pld2'
| ID |
647040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld2
|
| Ensembl Gene |
ENSMUSG00000020828 |
| Gene Name |
phospholipase D2 |
| Synonyms |
|
| MMRRC Submission |
067749-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R8383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70430890-70448936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70442255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 380
(D380N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018429]
[ENSMUST00000108557]
|
| AlphaFold |
P97813 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018429
AA Change: D380N
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: D380N
| 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 |
possibly damaging
Transcript: ENSMUST00000108557
AA Change: D380N
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: D380N
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
T |
5: 121,745,436 (GRCm39) |
M285K |
probably damaging |
Het |
| Adcyap1r1 |
T |
C |
6: 55,456,985 (GRCm39) |
S239P |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,518,085 (GRCm39) |
M72K |
probably benign |
Het |
| Alpk2 |
G |
T |
18: 65,438,469 (GRCm39) |
R975S |
probably benign |
Het |
| Ankrd7 |
A |
T |
6: 18,868,410 (GRCm39) |
K177N |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,235,639 (GRCm39) |
T272A |
probably damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,155,952 (GRCm39) |
Y666H |
possibly damaging |
Het |
| Cyp2j11 |
T |
C |
4: 96,236,695 (GRCm39) |
N37S |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,801,588 (GRCm39) |
D81G |
probably benign |
Het |
| Dysf |
T |
A |
6: 83,996,565 (GRCm39) |
D22E |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,896,194 (GRCm39) |
T177A |
possibly damaging |
Het |
| Gm3415 |
C |
T |
5: 146,495,228 (GRCm39) |
P210L |
probably benign |
Het |
| Gm7995 |
A |
G |
14: 42,133,321 (GRCm39) |
H66R |
|
Het |
| Habp2 |
G |
A |
19: 56,304,768 (GRCm39) |
V388M |
probably damaging |
Het |
| Hey2 |
A |
G |
10: 30,716,665 (GRCm39) |
S33P |
probably benign |
Het |
| Hmbs |
C |
T |
9: 44,249,240 (GRCm39) |
R195H |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,653 (GRCm39) |
Y3297F |
unknown |
Het |
| Hspg2 |
T |
A |
4: 137,271,681 (GRCm39) |
H2482Q |
possibly damaging |
Het |
| Ifi207 |
GAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
GGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
1: 173,556,770 (GRCm39) |
|
probably benign |
Het |
| Ifi208 |
T |
A |
1: 173,511,075 (GRCm39) |
V410E |
possibly damaging |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,734 (GRCm39) |
T25A |
probably damaging |
Het |
| Il22ra1 |
A |
G |
4: 135,461,451 (GRCm39) |
Q72R |
probably damaging |
Het |
| Ip6k1 |
T |
A |
9: 107,921,926 (GRCm39) |
F207I |
possibly damaging |
Het |
| Kdm6b |
A |
G |
11: 69,296,876 (GRCm39) |
S464P |
probably benign |
Het |
| Kirrel3 |
G |
T |
9: 34,941,179 (GRCm39) |
M601I |
probably null |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,690,539 (GRCm39) |
N518S |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,777,049 (GRCm39) |
S370G |
probably benign |
Het |
| Nrn1l |
T |
C |
8: 106,621,058 (GRCm39) |
L50P |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,522,343 (GRCm39) |
Y411C |
probably damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or1j15 |
A |
T |
2: 36,459,014 (GRCm39) |
I135F |
probably benign |
Het |
| Or1j20 |
A |
G |
2: 36,760,343 (GRCm39) |
Y255C |
probably damaging |
Het |
| Or5t5 |
A |
G |
2: 86,616,874 (GRCm39) |
I267V |
probably benign |
Het |
| Panx3 |
T |
A |
9: 37,578,049 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,217,759 (GRCm39) |
F1139L |
probably damaging |
Het |
| Plekha7 |
A |
C |
7: 115,744,154 (GRCm39) |
N715K |
probably damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,353 (GRCm39) |
S20T |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rdh8 |
G |
A |
9: 20,734,081 (GRCm39) |
|
probably null |
Het |
| Rgl3 |
G |
A |
9: 21,888,529 (GRCm39) |
T427I |
probably damaging |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sclt1 |
A |
C |
3: 41,696,450 (GRCm39) |
I5S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,908,126 (GRCm39) |
H16R |
possibly damaging |
Het |
| Sgca |
G |
A |
11: 94,863,068 (GRCm39) |
P95L |
probably benign |
Het |
| Spag17 |
T |
G |
3: 99,992,708 (GRCm39) |
S1735A |
probably damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,744 (GRCm39) |
I564T |
probably benign |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
11: 94,105,203 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
T |
G |
11: 73,180,127 (GRCm39) |
F524V |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,555,390 (GRCm39) |
N282S |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,291,614 (GRCm39) |
L421P |
possibly damaging |
Het |
| Tyr |
A |
T |
7: 87,133,200 (GRCm39) |
C289S |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,895,222 (GRCm39) |
E756G |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,701,069 (GRCm39) |
M700K |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,528 (GRCm39) |
S389P |
possibly damaging |
Het |
| Zfp667 |
T |
C |
7: 6,308,370 (GRCm39) |
L346P |
probably damaging |
Het |
| Zfp945 |
A |
G |
17: 23,070,798 (GRCm39) |
M388T |
probably benign |
Het |
| Zfp992 |
A |
G |
4: 146,551,133 (GRCm39) |
I285V |
probably benign |
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 |
|
R0117:Pld2
|
UTSW |
11 |
70,448,214 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
|
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'- AATGGGGCAGGTTACTTTGC -3'
(R):5'- CTTGAAGCCTCAGATTCCCAATC -3'
Sequencing Primer
(F):5'- CGAGCTCAAGAGGAGATTTTCATCAC -3'
(R):5'- CTTCTCCTTGGAAGATTCGAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation