Incidental Mutation 'IGL01362:Plppr3'
| ID |
75787 |
| 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 # |
IGL01362
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79701795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 349
(R349Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000167250]
[ENSMUST00000165724]
[ENSMUST00000165601]
[ENSMUST00000166023]
[ENSMUST00000167707]
[ENSMUST00000165704]
[ENSMUST00000172282]
[ENSMUST00000167897]
|
| 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: R349Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089979
Gene: ENSMUSG00000035835
AA Change: R349Q
| 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: ENSMUST00000167250
AA Change: R349Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835
AA Change: R349Q
| 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: ENSMUST00000184090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169580
|
| 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: 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: 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: 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: 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,261,322 (GRCm39) |
D733V |
probably benign |
Het |
| Baz2a |
G |
A |
10: 127,957,833 (GRCm39) |
G1062D |
probably damaging |
Het |
| Bmp8a |
C |
A |
4: 123,207,094 (GRCm39) |
R389L |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,719,811 (GRCm39) |
V488A |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,875,889 (GRCm39) |
I227V |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,069,161 (GRCm39) |
F2509L |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,725,618 (GRCm39) |
I247T |
probably benign |
Het |
| Erich6 |
G |
A |
3: 58,529,781 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
C |
15: 99,178,199 (GRCm39) |
T376A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,228,072 (GRCm39) |
E570G |
probably damaging |
Het |
| Gm5117 |
G |
T |
8: 32,227,947 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
A |
G |
1: 135,089,216 (GRCm39) |
V283A |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,123,767 (GRCm39) |
|
probably benign |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,884 (GRCm39) |
T244I |
probably benign |
Het |
| Mcoln1 |
T |
C |
8: 3,557,558 (GRCm39) |
V188A |
possibly damaging |
Het |
| Mon1a |
T |
C |
9: 107,779,883 (GRCm39) |
L484P |
probably damaging |
Het |
| Mrgprg |
T |
A |
7: 143,318,806 (GRCm39) |
D102V |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,360,056 (GRCm39) |
S181R |
probably benign |
Het |
| Myh11 |
C |
T |
16: 14,095,586 (GRCm39) |
V59I |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,746,909 (GRCm39) |
T163I |
probably damaging |
Het |
| Nr4a3 |
A |
C |
4: 48,051,586 (GRCm39) |
Q142H |
possibly damaging |
Het |
| Or14c41 |
A |
T |
7: 86,234,647 (GRCm39) |
T55S |
possibly damaging |
Het |
| Or2a14 |
A |
G |
6: 43,130,569 (GRCm39) |
E110G |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,351,270 (GRCm39) |
I255V |
probably benign |
Het |
| Or8b8 |
A |
G |
9: 37,809,359 (GRCm39) |
I220V |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,748,595 (GRCm39) |
S1859P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,378 (GRCm39) |
T1967A |
probably benign |
Het |
| Ppp2r5d |
A |
G |
17: 46,996,443 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
C |
T |
13: 13,176,828 (GRCm39) |
C33Y |
probably damaging |
Het |
| Prl3d2 |
T |
A |
13: 27,306,438 (GRCm39) |
L55* |
probably null |
Het |
| Ralgapb |
C |
T |
2: 158,277,385 (GRCm39) |
R250C |
probably damaging |
Het |
| Scamp3 |
C |
T |
3: 89,086,441 (GRCm39) |
P63S |
probably benign |
Het |
| Slc22a6 |
A |
G |
19: 8,598,572 (GRCm39) |
I210V |
possibly damaging |
Het |
| Stard13 |
T |
A |
5: 151,113,417 (GRCm39) |
H48L |
probably benign |
Het |
| Tm6sf2 |
G |
A |
8: 70,530,565 (GRCm39) |
R215H |
probably damaging |
Het |
| Twist2 |
T |
C |
1: 91,729,650 (GRCm39) |
L101P |
probably damaging |
Het |
| Uvrag |
A |
G |
7: 98,537,720 (GRCm39) |
S492P |
probably benign |
Het |
| Zan |
T |
C |
5: 137,450,712 (GRCm39) |
T1622A |
unknown |
Het |
| Zswim2 |
T |
A |
2: 83,745,690 (GRCm39) |
T583S |
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 |
|
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 |
2013-10-07 |
Incidental Mutation