Incidental Mutation 'IGL00324:Plppr3'
ID |
6099 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plppr3
|
Ensembl Gene |
ENSMUSG00000035835 |
Gene Name |
phospholipid phosphatase related 3 |
Synonyms |
BC005764, Lppr3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
IGL00324
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79702503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 217
(S217L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000165601]
[ENSMUST00000167250]
[ENSMUST00000167897]
[ENSMUST00000166023]
[ENSMUST00000167707]
[ENSMUST00000165704]
[ENSMUST00000165724]
[ENSMUST00000172282]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057343
|
SMART Domains |
Protein: ENSMUSP00000059481 Gene: ENSMUSG00000006498
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
38 |
N/A |
INTRINSIC |
RRM
|
59 |
128 |
9.8e-9 |
SMART |
low complexity region
|
161 |
178 |
N/A |
INTRINSIC |
RRM
|
184 |
253 |
4.75e-7 |
SMART |
low complexity region
|
305 |
330 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092325
AA Change: S217L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089979 Gene: ENSMUSG00000035835 AA Change: S217L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
acidPPc
|
132 |
276 |
1.38e-16 |
SMART |
coiled coil region
|
430 |
460 |
N/A |
INTRINSIC |
low complexity region
|
562 |
581 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095457
|
SMART Domains |
Protein: ENSMUSP00000093109 Gene: ENSMUSG00000006498
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
36 |
86 |
1.9e-5 |
PFAM |
Pfam:RRM_5
|
38 |
90 |
3.6e-12 |
PFAM |
low complexity region
|
121 |
138 |
N/A |
INTRINSIC |
RRM
|
144 |
213 |
4.75e-7 |
SMART |
low complexity region
|
265 |
290 |
N/A |
INTRINSIC |
RRM
|
296 |
365 |
1.84e-13 |
SMART |
RRM
|
413 |
483 |
2.6e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113452
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165153
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165601
AA Change: S217L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128681 Gene: ENSMUSG00000035835 AA Change: S217L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
acidPPc
|
132 |
266 |
7.27e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167250
AA Change: S217L
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130695 Gene: ENSMUSG00000035835 AA Change: S217L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
acidPPc
|
132 |
276 |
1.38e-16 |
SMART |
low complexity region
|
437 |
454 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166057
|
Predicted Effect |
silent
Transcript: ENSMUST00000167897
|
SMART Domains |
Protein: ENSMUSP00000127972 Gene: ENSMUSG00000035835
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170910
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166023
|
SMART Domains |
Protein: ENSMUSP00000127171 Gene: ENSMUSG00000035835
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167707
|
SMART Domains |
Protein: ENSMUSP00000132994 Gene: ENSMUSG00000035835
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
Blast:acidPPc
|
125 |
159 |
8e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165704
|
SMART Domains |
Protein: ENSMUSP00000127783 Gene: ENSMUSG00000006498
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
38 |
N/A |
INTRINSIC |
RRM
|
59 |
128 |
9.8e-9 |
SMART |
low complexity region
|
161 |
178 |
N/A |
INTRINSIC |
RRM
|
184 |
253 |
4.75e-7 |
SMART |
low complexity region
|
305 |
330 |
N/A |
INTRINSIC |
RRM
|
336 |
405 |
1.84e-13 |
SMART |
RRM
|
453 |
523 |
2.6e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165724
|
SMART Domains |
Protein: ENSMUSP00000130749 Gene: ENSMUSG00000006498
Domain | Start | End | E-Value | Type |
Pfam:RRM_5
|
2 |
40 |
5.3e-7 |
PFAM |
low complexity region
|
114 |
139 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172282
|
SMART Domains |
Protein: ENSMUSP00000126192 Gene: ENSMUSG00000006498
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
38 |
N/A |
INTRINSIC |
RRM
|
59 |
128 |
9.8e-9 |
SMART |
low complexity region
|
161 |
178 |
N/A |
INTRINSIC |
RRM
|
184 |
253 |
4.75e-7 |
SMART |
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
RRM
|
362 |
431 |
1.84e-13 |
SMART |
RRM
|
479 |
549 |
2.6e-13 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
T |
C |
3: 121,570,642 (GRCm39) |
|
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,136,214 (GRCm39) |
L1156Q |
unknown |
Het |
Ctsl |
T |
C |
13: 64,515,982 (GRCm39) |
Y66C |
probably damaging |
Het |
Esd |
C |
T |
14: 74,973,467 (GRCm39) |
H21Y |
probably damaging |
Het |
Fcrlb |
A |
C |
1: 170,736,393 (GRCm39) |
Y128D |
possibly damaging |
Het |
Gm17027 |
A |
T |
14: 41,981,267 (GRCm39) |
N196K |
unknown |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Hpcal1 |
A |
G |
12: 17,841,146 (GRCm39) |
S175G |
probably benign |
Het |
Itgam |
A |
T |
7: 127,684,833 (GRCm39) |
D401V |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,389,122 (GRCm39) |
T932A |
probably benign |
Het |
Lmod1 |
A |
G |
1: 135,292,216 (GRCm39) |
K357R |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,599,186 (GRCm39) |
I3271V |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,248,107 (GRCm39) |
K1692E |
probably damaging |
Het |
Ocln |
A |
G |
13: 100,671,521 (GRCm39) |
W279R |
probably damaging |
Het |
Or4p20 |
T |
C |
2: 88,254,130 (GRCm39) |
I80V |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,206 (GRCm39) |
K677R |
probably benign |
Het |
Pitrm1 |
T |
A |
13: 6,618,702 (GRCm39) |
L586Q |
probably damaging |
Het |
Pnldc1 |
A |
T |
17: 13,124,645 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
T |
A |
4: 143,143,237 (GRCm39) |
M1K |
probably null |
Het |
Pramel13 |
A |
G |
4: 144,121,310 (GRCm39) |
L238P |
possibly damaging |
Het |
Sema6b |
C |
T |
17: 56,437,048 (GRCm39) |
D204N |
probably damaging |
Het |
Slc12a5 |
A |
G |
2: 164,839,041 (GRCm39) |
N1063S |
probably damaging |
Het |
Tg |
T |
C |
15: 66,565,273 (GRCm39) |
V1205A |
probably benign |
Het |
Tmem260 |
T |
C |
14: 48,724,336 (GRCm39) |
F205L |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,956,337 (GRCm39) |
|
probably benign |
Het |
Tsen34 |
A |
G |
7: 3,703,530 (GRCm39) |
*296W |
probably null |
Het |
Ubr2 |
A |
G |
17: 47,296,986 (GRCm39) |
|
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,706,684 (GRCm39) |
W505R |
possibly damaging |
Het |
Wbp11 |
A |
G |
6: 136,798,668 (GRCm39) |
|
probably benign |
Het |
Znfx1 |
A |
T |
2: 166,878,649 (GRCm39) |
M1909K |
possibly damaging |
Het |
|
Other mutations in Plppr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01108:Plppr3
|
APN |
10 |
79,703,355 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01116:Plppr3
|
APN |
10 |
79,702,757 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01362:Plppr3
|
APN |
10 |
79,701,795 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03065:Plppr3
|
APN |
10 |
79,701,880 (GRCm39) |
missense |
probably benign |
0.06 |
R0972:Plppr3
|
UTSW |
10 |
79,700,920 (GRCm39) |
missense |
probably damaging |
0.99 |
R1508:Plppr3
|
UTSW |
10 |
79,703,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R1844:Plppr3
|
UTSW |
10 |
79,702,244 (GRCm39) |
critical splice donor site |
probably null |
|
R1907:Plppr3
|
UTSW |
10 |
79,709,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R1982:Plppr3
|
UTSW |
10 |
79,702,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R1984:Plppr3
|
UTSW |
10 |
79,703,294 (GRCm39) |
nonsense |
probably null |
|
R1985:Plppr3
|
UTSW |
10 |
79,703,294 (GRCm39) |
nonsense |
probably null |
|
R2116:Plppr3
|
UTSW |
10 |
79,701,572 (GRCm39) |
missense |
probably benign |
0.01 |
R2355:Plppr3
|
UTSW |
10 |
79,701,194 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4092:Plppr3
|
UTSW |
10 |
79,703,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R4572:Plppr3
|
UTSW |
10 |
79,701,897 (GRCm39) |
missense |
probably benign |
0.03 |
R4685:Plppr3
|
UTSW |
10 |
79,703,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R4824:Plppr3
|
UTSW |
10 |
79,701,507 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5102:Plppr3
|
UTSW |
10 |
79,701,220 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5212:Plppr3
|
UTSW |
10 |
79,698,279 (GRCm39) |
missense |
probably benign |
0.00 |
R5584:Plppr3
|
UTSW |
10 |
79,702,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R5684:Plppr3
|
UTSW |
10 |
79,701,151 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5778:Plppr3
|
UTSW |
10 |
79,702,337 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5954:Plppr3
|
UTSW |
10 |
79,701,960 (GRCm39) |
missense |
probably benign |
0.05 |
R6306:Plppr3
|
UTSW |
10 |
79,697,566 (GRCm39) |
nonsense |
probably null |
|
R6357:Plppr3
|
UTSW |
10 |
79,701,240 (GRCm39) |
missense |
probably benign |
0.06 |
R7134:Plppr3
|
UTSW |
10 |
79,701,537 (GRCm39) |
missense |
probably damaging |
0.96 |
R7657:Plppr3
|
UTSW |
10 |
79,702,272 (GRCm39) |
missense |
probably benign |
0.21 |
R8051:Plppr3
|
UTSW |
10 |
79,702,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R8463:Plppr3
|
UTSW |
10 |
79,703,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R9472:Plppr3
|
UTSW |
10 |
79,702,711 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Plppr3
|
UTSW |
10 |
79,701,118 (GRCm39) |
missense |
probably benign |
0.14 |
|
Posted On |
2012-04-20 |