Incidental Mutation 'IGL02068:Plppr4'
ID |
185726 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plppr4
|
Ensembl Gene |
ENSMUSG00000044667 |
Gene Name |
phospholipid phosphatase related 4 |
Synonyms |
D3Bwg0562e, PRG-1, Lppr4 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02068
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
117112794-117154525 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 117125433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061071]
[ENSMUST00000197743]
|
AlphaFold |
Q7TME0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061071
|
SMART Domains |
Protein: ENSMUSP00000052306 Gene: ENSMUSG00000044667
Domain | Start | End | E-Value | Type |
acidPPc
|
180 |
324 |
4.07e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125664
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197743
|
SMART Domains |
Protein: ENSMUSP00000143753 Gene: ENSMUSG00000044667
Domain | Start | End | E-Value | Type |
SCOP:d1d2ta_
|
59 |
268 |
1e-7 |
SMART |
Blast:acidPPc
|
180 |
265 |
8e-53 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, seizures, hyperexcitability of evoked fEPSP, and premature lethality around 3 weeks of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
T |
A |
14: 68,814,558 (GRCm39) |
I140F |
probably benign |
Het |
Cfap58 |
T |
C |
19: 47,974,951 (GRCm39) |
L704P |
probably damaging |
Het |
Cnnm2 |
T |
C |
19: 46,865,827 (GRCm39) |
V805A |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,951,871 (GRCm39) |
E1876G |
probably damaging |
Het |
Dock1 |
A |
T |
7: 134,373,277 (GRCm39) |
E548V |
probably benign |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
Esm1 |
T |
G |
13: 113,346,630 (GRCm39) |
F85C |
probably damaging |
Het |
Fcer1a |
C |
T |
1: 173,053,071 (GRCm39) |
G42R |
probably damaging |
Het |
Fcer1g |
A |
T |
1: 171,058,760 (GRCm39) |
Y43N |
probably damaging |
Het |
Grik1 |
G |
T |
16: 87,737,539 (GRCm39) |
T585K |
possibly damaging |
Het |
Hnf4g |
T |
C |
3: 3,709,636 (GRCm39) |
I184T |
probably benign |
Het |
Hsd11b1 |
G |
A |
1: 192,904,354 (GRCm39) |
R282* |
probably null |
Het |
Lig1 |
T |
A |
7: 13,026,377 (GRCm39) |
|
probably benign |
Het |
Or13l2 |
T |
C |
3: 97,318,222 (GRCm39) |
K92E |
possibly damaging |
Het |
Phip |
A |
G |
9: 82,827,861 (GRCm39) |
S184P |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,592,971 (GRCm39) |
G1714D |
probably damaging |
Het |
Prdm10 |
G |
A |
9: 31,248,646 (GRCm39) |
R356Q |
probably damaging |
Het |
Rasgrp1 |
C |
T |
2: 117,131,059 (GRCm39) |
|
probably benign |
Het |
Rpap1 |
C |
T |
2: 119,613,135 (GRCm39) |
E138K |
probably benign |
Het |
Sidt2 |
A |
C |
9: 45,856,962 (GRCm39) |
|
probably null |
Het |
Slc28a3 |
A |
G |
13: 58,706,411 (GRCm39) |
L610P |
probably damaging |
Het |
Slc39a10 |
T |
C |
1: 46,858,599 (GRCm39) |
|
probably benign |
Het |
Snx18 |
G |
A |
13: 113,753,601 (GRCm39) |
A444V |
probably damaging |
Het |
Svil |
A |
G |
18: 5,092,899 (GRCm39) |
E1459G |
probably damaging |
Het |
Tbc1d9 |
T |
C |
8: 83,966,497 (GRCm39) |
L366P |
probably damaging |
Het |
Tbk1 |
A |
T |
10: 121,406,694 (GRCm39) |
H181Q |
probably damaging |
Het |
Wrn |
C |
A |
8: 33,800,777 (GRCm39) |
G612V |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,945 (GRCm39) |
Y595H |
probably damaging |
Het |
|
Other mutations in Plppr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Plppr4
|
APN |
3 |
117,115,869 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01969:Plppr4
|
APN |
3 |
117,122,008 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02014:Plppr4
|
APN |
3 |
117,129,222 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02426:Plppr4
|
APN |
3 |
117,115,944 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03203:Plppr4
|
APN |
3 |
117,119,540 (GRCm39) |
missense |
possibly damaging |
0.89 |
PIT4445001:Plppr4
|
UTSW |
3 |
117,153,957 (GRCm39) |
unclassified |
probably benign |
|
R0376:Plppr4
|
UTSW |
3 |
117,116,740 (GRCm39) |
missense |
probably benign |
0.05 |
R0755:Plppr4
|
UTSW |
3 |
117,116,319 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0831:Plppr4
|
UTSW |
3 |
117,125,295 (GRCm39) |
critical splice donor site |
probably null |
|
R1518:Plppr4
|
UTSW |
3 |
117,129,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R1523:Plppr4
|
UTSW |
3 |
117,116,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R1581:Plppr4
|
UTSW |
3 |
117,121,915 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1628:Plppr4
|
UTSW |
3 |
117,121,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R2510:Plppr4
|
UTSW |
3 |
117,125,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R2511:Plppr4
|
UTSW |
3 |
117,125,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R4332:Plppr4
|
UTSW |
3 |
117,116,474 (GRCm39) |
missense |
probably benign |
|
R4380:Plppr4
|
UTSW |
3 |
117,116,046 (GRCm39) |
missense |
probably benign |
0.40 |
R4787:Plppr4
|
UTSW |
3 |
117,115,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R4829:Plppr4
|
UTSW |
3 |
117,129,240 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5511:Plppr4
|
UTSW |
3 |
117,119,551 (GRCm39) |
missense |
probably benign |
0.39 |
R5819:Plppr4
|
UTSW |
3 |
117,119,513 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6149:Plppr4
|
UTSW |
3 |
117,116,043 (GRCm39) |
missense |
probably benign |
0.22 |
R6257:Plppr4
|
UTSW |
3 |
117,116,228 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6974:Plppr4
|
UTSW |
3 |
117,116,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R7045:Plppr4
|
UTSW |
3 |
117,153,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Plppr4
|
UTSW |
3 |
117,116,832 (GRCm39) |
missense |
probably damaging |
0.98 |
R7507:Plppr4
|
UTSW |
3 |
117,115,754 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7820:Plppr4
|
UTSW |
3 |
117,115,598 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8179:Plppr4
|
UTSW |
3 |
117,125,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R8181:Plppr4
|
UTSW |
3 |
117,116,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R8391:Plppr4
|
UTSW |
3 |
117,129,060 (GRCm39) |
missense |
probably benign |
0.02 |
R8531:Plppr4
|
UTSW |
3 |
117,115,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R8762:Plppr4
|
UTSW |
3 |
117,119,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R8784:Plppr4
|
UTSW |
3 |
117,116,190 (GRCm39) |
nonsense |
probably null |
|
R8933:Plppr4
|
UTSW |
3 |
117,116,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R9251:Plppr4
|
UTSW |
3 |
117,115,608 (GRCm39) |
missense |
probably benign |
0.22 |
R9311:Plppr4
|
UTSW |
3 |
117,119,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R9385:Plppr4
|
UTSW |
3 |
117,116,377 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9474:Plppr4
|
UTSW |
3 |
117,116,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R9612:Plppr4
|
UTSW |
3 |
117,115,610 (GRCm39) |
missense |
probably benign |
0.07 |
R9709:Plppr4
|
UTSW |
3 |
117,121,976 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1176:Plppr4
|
UTSW |
3 |
117,116,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |