Incidental Mutation 'IGL01108:Plppr3'
| ID |
52106 |
| 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 # |
IGL01108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79703355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 43
(D43V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000167250]
[ENSMUST00000165601]
[ENSMUST00000167707]
[ENSMUST00000167897]
[ENSMUST00000166023]
[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: D43V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089979
Gene: ENSMUSG00000035835
AA Change: D43V
| 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: D43V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835
AA Change: D43V
| 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 damaging
Transcript: ENSMUST00000165601
AA Change: D43V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128681
Gene: ENSMUSG00000035835
AA Change: D43V
| 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: ENSMUST00000167707
AA Change: D43V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132994
Gene: ENSMUSG00000035835
AA Change: D43V
| 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 damaging
Transcript: ENSMUST00000167897
AA Change: D43V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127972
Gene: ENSMUSG00000035835
AA Change: D43V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166023
AA Change: D43V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127171
Gene: ENSMUSG00000035835
AA Change: D43V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169580
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah2 |
A |
G |
19: 31,986,081 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,516 (GRCm39) |
I856T |
probably benign |
Het |
| Cblb |
T |
A |
16: 51,867,814 (GRCm39) |
|
probably null |
Het |
| Cpq |
A |
G |
15: 33,497,433 (GRCm39) |
Q391R |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,740,806 (GRCm39) |
T4127S |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,176,771 (GRCm39) |
S63P |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,397,638 (GRCm39) |
V623A |
probably damaging |
Het |
| Fbxw9 |
A |
G |
8: 85,792,606 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
T |
A |
2: 70,508,922 (GRCm39) |
S133R |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,461,922 (GRCm39) |
A307T |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,132,487 (GRCm39) |
K186R |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,664,903 (GRCm39) |
E596G |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,659 (GRCm39) |
I188V |
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,257,754 (GRCm39) |
M492K |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,835,563 (GRCm39) |
T545A |
probably damaging |
Het |
| Mgrn1 |
G |
T |
16: 4,734,019 (GRCm39) |
|
probably null |
Het |
| Mideas |
T |
C |
12: 84,220,465 (GRCm39) |
E163G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,259,339 (GRCm39) |
V529A |
probably benign |
Het |
| Or13f5 |
C |
T |
4: 52,825,727 (GRCm39) |
T110I |
probably damaging |
Het |
| Parp4 |
T |
G |
14: 56,844,897 (GRCm39) |
I596S |
probably benign |
Het |
| Prss51 |
A |
T |
14: 64,333,433 (GRCm39) |
K14I |
probably damaging |
Het |
| Prss58 |
A |
G |
6: 40,874,278 (GRCm39) |
C133R |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,788,007 (GRCm39) |
N437K |
probably benign |
Het |
| Samd10 |
A |
G |
2: 181,239,007 (GRCm39) |
Y135H |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
| Serpina7 |
C |
T |
X: 137,983,886 (GRCm39) |
V58I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,273,594 (GRCm39) |
|
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Urb1 |
C |
T |
16: 90,589,702 (GRCm39) |
A360T |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,595,022 (GRCm39) |
R3818L |
probably benign |
Het |
| Vmn2r57 |
C |
T |
7: 41,077,008 (GRCm39) |
R386K |
probably benign |
Het |
| Wnt3a |
T |
C |
11: 59,147,135 (GRCm39) |
N184D |
probably benign |
Het |
| Xpc |
G |
A |
6: 91,469,987 (GRCm39) |
R746W |
probably damaging |
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 |
|
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 |
2013-06-21 |
Incidental Mutation