Incidental Mutation 'IGL01969:Plppr4'
ID |
181639 |
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 # |
IGL01969
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
117112794-117154525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 117122008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 190
(T190K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061071]
[ENSMUST00000197743]
|
AlphaFold |
Q7TME0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061071
AA Change: T190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052306 Gene: ENSMUSG00000044667 AA Change: T190K
Domain | Start | End | E-Value | Type |
acidPPc
|
180 |
324 |
4.07e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125664
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197743
AA Change: T190K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143753 Gene: ENSMUSG00000044667 AA Change: T190K
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l1 |
C |
A |
8: 124,207,170 (GRCm39) |
P74H |
probably damaging |
Het |
Aire |
T |
A |
10: 77,878,816 (GRCm39) |
D77V |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,746,872 (GRCm39) |
H571L |
possibly damaging |
Het |
Apol10b |
T |
C |
15: 77,472,885 (GRCm39) |
|
probably null |
Het |
Cacna2d2 |
A |
T |
9: 107,386,415 (GRCm39) |
M181L |
probably benign |
Het |
Ccnl1 |
T |
C |
3: 65,855,908 (GRCm39) |
|
probably benign |
Het |
Chd9 |
A |
G |
8: 91,760,138 (GRCm39) |
E1961G |
possibly damaging |
Het |
Dnajc12 |
C |
A |
10: 63,231,609 (GRCm39) |
H42N |
probably damaging |
Het |
Eml4 |
T |
C |
17: 83,753,409 (GRCm39) |
V248A |
possibly damaging |
Het |
Epha10 |
A |
C |
4: 124,779,670 (GRCm39) |
K172T |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,405,636 (GRCm39) |
Y796H |
probably damaging |
Het |
Gpr176 |
A |
C |
2: 118,110,118 (GRCm39) |
F380L |
probably damaging |
Het |
Guca1a |
A |
T |
17: 47,711,268 (GRCm39) |
M26K |
probably damaging |
Het |
Gucy2g |
T |
G |
19: 55,215,870 (GRCm39) |
M501L |
probably benign |
Het |
Herc2 |
T |
C |
7: 55,835,579 (GRCm39) |
|
probably benign |
Het |
Itgav |
A |
G |
2: 83,633,627 (GRCm39) |
E1028G |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,354,652 (GRCm39) |
T179A |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,538,502 (GRCm39) |
T383A |
probably benign |
Het |
Midn |
A |
G |
10: 79,991,093 (GRCm39) |
T325A |
probably benign |
Het |
Mpdz |
A |
G |
4: 81,276,961 (GRCm39) |
Y788H |
probably damaging |
Het |
Muc1 |
A |
T |
3: 89,139,313 (GRCm39) |
D571V |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,302,499 (GRCm39) |
H316L |
probably benign |
Het |
Nagpa |
T |
C |
16: 5,013,753 (GRCm39) |
K362E |
probably benign |
Het |
Ola1 |
G |
A |
2: 72,930,490 (GRCm39) |
A266V |
probably benign |
Het |
Or1e33 |
T |
C |
11: 73,738,435 (GRCm39) |
N172S |
possibly damaging |
Het |
Or4a47 |
A |
G |
2: 89,666,064 (GRCm39) |
I75T |
probably benign |
Het |
Or5b97 |
C |
A |
19: 12,878,416 (GRCm39) |
A243S |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,539,827 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
C |
16: 17,196,347 (GRCm39) |
V105G |
probably benign |
Het |
Pnpla3 |
G |
A |
15: 84,063,425 (GRCm39) |
A268T |
probably benign |
Het |
Ppp6r2 |
C |
T |
15: 89,159,713 (GRCm39) |
H467Y |
probably damaging |
Het |
Prkd2 |
C |
T |
7: 16,599,682 (GRCm39) |
T715M |
probably damaging |
Het |
Rusc2 |
A |
G |
4: 43,415,738 (GRCm39) |
N348S |
probably benign |
Het |
Ska3 |
A |
G |
14: 58,049,119 (GRCm39) |
V284A |
probably benign |
Het |
Slc23a1 |
A |
T |
18: 35,757,807 (GRCm39) |
V199D |
possibly damaging |
Het |
Slc6a13 |
T |
C |
6: 121,312,601 (GRCm39) |
L445P |
probably damaging |
Het |
Smo |
A |
T |
6: 29,755,171 (GRCm39) |
|
probably null |
Het |
Tmem131 |
A |
G |
1: 36,864,541 (GRCm39) |
L564S |
possibly damaging |
Het |
Ttc23l |
G |
A |
15: 10,551,520 (GRCm39) |
Q69* |
probably null |
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 |
IGL02014:Plppr4
|
APN |
3 |
117,129,222 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02068:Plppr4
|
APN |
3 |
117,125,433 (GRCm39) |
splice site |
probably benign |
|
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 |