Incidental Mutation 'R6357:Plppr3'
ID |
512386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plppr3
|
Ensembl Gene |
ENSMUSG00000035835 |
Gene Name |
phospholipid phosphatase related 3 |
Synonyms |
BC005764, Lppr3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6357 (G1)
|
Quality Score |
157.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79701240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 534
(Q534L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000165724]
[ENSMUST00000172282]
[ENSMUST00000166023]
[ENSMUST00000167707]
[ENSMUST00000165601]
[ENSMUST00000167897]
[ENSMUST00000167250]
[ENSMUST00000165704]
|
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 benign
Transcript: ENSMUST00000092325
AA Change: Q534L
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000089979 Gene: ENSMUSG00000035835 AA Change: Q534L
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 |
noncoding transcript
Transcript: ENSMUST00000184090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170910
|
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 |
|
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: ENSMUST00000165601
|
SMART Domains |
Protein: ENSMUSP00000128681 Gene: ENSMUSG00000035835
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 benign
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 |
probably benign
Transcript: ENSMUST00000167250
|
SMART Domains |
Protein: ENSMUSP00000130695 Gene: ENSMUSG00000035835
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000166057
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.8%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
C |
17: 57,184,591 (GRCm39) |
|
probably null |
Het |
Aoc1l2 |
A |
G |
6: 48,907,908 (GRCm39) |
M303V |
probably benign |
Het |
Armh4 |
A |
T |
14: 50,010,769 (GRCm39) |
S313T |
probably benign |
Het |
Calcr |
T |
C |
6: 3,714,710 (GRCm39) |
D140G |
probably benign |
Het |
Card10 |
T |
C |
15: 78,683,579 (GRCm39) |
E188G |
probably damaging |
Het |
Cenpq |
T |
C |
17: 41,235,418 (GRCm39) |
E193G |
probably damaging |
Het |
Cep164 |
G |
A |
9: 45,682,182 (GRCm39) |
L1874F |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,428,321 (GRCm39) |
M889T |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
Dynlt2b |
T |
G |
16: 32,247,873 (GRCm39) |
|
probably null |
Het |
Eci2 |
A |
G |
13: 35,177,082 (GRCm39) |
V26A |
possibly damaging |
Het |
Eftud2 |
A |
T |
11: 102,755,606 (GRCm39) |
N200K |
probably damaging |
Het |
Eml5 |
T |
A |
12: 98,837,143 (GRCm39) |
H357L |
probably damaging |
Het |
Esam |
T |
C |
9: 37,449,076 (GRCm39) |
*395R |
probably null |
Het |
Galt |
C |
T |
4: 41,757,565 (GRCm39) |
P246S |
probably benign |
Het |
Gjb3 |
A |
T |
4: 127,220,423 (GRCm39) |
Y36* |
probably null |
Het |
Gli2 |
T |
C |
1: 118,769,689 (GRCm39) |
E621G |
probably damaging |
Het |
Gls |
T |
C |
1: 52,258,665 (GRCm39) |
D201G |
probably damaging |
Het |
Gm10801 |
C |
CGTCA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Gm1110 |
T |
C |
9: 26,825,424 (GRCm39) |
|
probably null |
Het |
Gm5565 |
T |
A |
5: 146,097,283 (GRCm39) |
H13L |
possibly damaging |
Het |
Hydin |
A |
C |
8: 111,268,289 (GRCm39) |
T2923P |
possibly damaging |
Het |
Kank1 |
A |
T |
19: 25,388,717 (GRCm39) |
I797L |
probably benign |
Het |
Klhdc8a |
A |
T |
1: 132,230,891 (GRCm39) |
Q252L |
probably damaging |
Het |
Kmt5c |
T |
C |
7: 4,745,204 (GRCm39) |
F65S |
possibly damaging |
Het |
Lix1 |
C |
T |
17: 17,666,255 (GRCm39) |
P138L |
probably benign |
Het |
Lnpep |
T |
C |
17: 17,773,176 (GRCm39) |
N664S |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,291,888 (GRCm39) |
Y214* |
probably null |
Het |
Nefl |
A |
G |
14: 68,321,767 (GRCm39) |
E119G |
probably damaging |
Het |
Nptxr |
C |
A |
15: 79,678,516 (GRCm39) |
R257L |
possibly damaging |
Het |
Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
Or7e173 |
T |
A |
9: 19,938,925 (GRCm39) |
Q103L |
probably damaging |
Het |
Oxct2b |
A |
G |
4: 123,010,709 (GRCm39) |
I210V |
probably benign |
Het |
Psma1 |
T |
C |
7: 113,873,602 (GRCm39) |
|
probably null |
Het |
Rbp3 |
G |
A |
14: 33,678,991 (GRCm39) |
A980T |
probably damaging |
Het |
Ripply2 |
T |
A |
9: 86,898,331 (GRCm39) |
S58R |
possibly damaging |
Het |
Robo1 |
T |
C |
16: 72,767,190 (GRCm39) |
V454A |
probably benign |
Het |
Sacs |
A |
G |
14: 61,446,273 (GRCm39) |
D2773G |
possibly damaging |
Het |
Sirpb1b |
A |
T |
3: 15,568,243 (GRCm39) |
V366E |
possibly damaging |
Het |
Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
Spata31f1a |
T |
A |
4: 42,850,393 (GRCm39) |
I588F |
probably damaging |
Het |
Spmap2 |
T |
C |
10: 79,422,789 (GRCm39) |
S38G |
probably benign |
Het |
Srgap2 |
T |
C |
1: 131,283,280 (GRCm39) |
Y267C |
probably damaging |
Het |
Ssc4d |
T |
C |
5: 135,994,950 (GRCm39) |
T189A |
probably benign |
Het |
Tas2r106 |
A |
G |
6: 131,654,925 (GRCm39) |
*309Q |
probably null |
Het |
Vmn2r44 |
T |
C |
7: 8,373,657 (GRCm39) |
M511V |
probably benign |
Het |
Wdfy4 |
G |
T |
14: 32,823,006 (GRCm39) |
Y1364* |
probably null |
Het |
Zbtb8a |
T |
C |
4: 129,248,092 (GRCm39) |
H393R |
probably benign |
Het |
|
Other mutations in Plppr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Plppr3
|
APN |
10 |
79,702,503 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCACATCACTGACTGGAGAC -3'
(R):5'- ACTCTACCCTACTGTCCAGG -3'
Sequencing Primer
(F):5'- ACAGGTGCACCACTGGATG -3'
(R):5'- TACCCTACTGTCCAGGCTCGG -3'
|
Posted On |
2018-04-27 |