Incidental Mutation 'IGL01116:Plppr3'
| ID |
52116 |
| 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 # |
IGL01116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79702757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 155
(T155A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000167707]
[ENSMUST00000167250]
[ENSMUST00000165601]
[ENSMUST00000167897]
[ENSMUST00000165704]
[ENSMUST00000172282]
[ENSMUST00000165724]
[ENSMUST00000166023]
|
| 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: T169A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089979
Gene: ENSMUSG00000035835
AA Change: T169A
| 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: ENSMUST00000167707
AA Change: T155A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132994
Gene: ENSMUSG00000035835
AA Change: T155A
| 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: ENSMUST00000167250
AA Change: T169A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835
AA Change: T169A
| 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: T169A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128681
Gene: ENSMUSG00000035835
AA Change: T169A
| 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 |
noncoding transcript
Transcript: ENSMUST00000166057
|
| 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: 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: 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: 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: ENSMUST00000166023
|
| SMART Domains |
Protein: ENSMUSP00000127171
Gene: ENSMUSG00000035835
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,849,911 (GRCm39) |
M951L |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,225,163 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
T |
C |
18: 39,244,856 (GRCm39) |
V167A |
probably damaging |
Het |
| Bbs1 |
A |
G |
19: 4,952,867 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
A |
T |
17: 45,949,806 (GRCm39) |
|
probably benign |
Het |
| Cenpl |
G |
T |
1: 160,910,857 (GRCm39) |
S268I |
possibly damaging |
Het |
| Coq8b |
T |
C |
7: 26,939,282 (GRCm39) |
V144A |
possibly damaging |
Het |
| Exo1 |
T |
A |
1: 175,728,963 (GRCm39) |
C10S |
possibly damaging |
Het |
| Fam193b |
A |
T |
13: 55,691,266 (GRCm39) |
S203T |
probably damaging |
Het |
| Ggact |
T |
C |
14: 123,129,167 (GRCm39) |
N16S |
probably damaging |
Het |
| Gm3940 |
A |
T |
1: 52,129,882 (GRCm39) |
|
probably benign |
Het |
| Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
| Golm1 |
T |
C |
13: 59,797,470 (GRCm39) |
K125R |
probably damaging |
Het |
| Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,127,801 (GRCm39) |
N337D |
probably damaging |
Het |
| Gripap1 |
G |
A |
X: 7,678,705 (GRCm39) |
G464D |
probably benign |
Het |
| Grk1 |
A |
G |
8: 13,455,404 (GRCm39) |
D96G |
possibly damaging |
Het |
| Hsf1 |
T |
C |
15: 76,382,403 (GRCm39) |
V258A |
probably benign |
Het |
| Ighv7-4 |
A |
G |
12: 114,186,653 (GRCm39) |
S40P |
probably damaging |
Het |
| Igkv4-50 |
G |
A |
6: 69,677,921 (GRCm39) |
S61L |
probably benign |
Het |
| Igkv4-62 |
C |
T |
6: 69,377,035 (GRCm39) |
G38E |
probably damaging |
Het |
| Ints1 |
T |
C |
5: 139,757,437 (GRCm39) |
D358G |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,984,888 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,974,439 (GRCm39) |
S580G |
probably damaging |
Het |
| Myef2 |
A |
G |
2: 124,940,402 (GRCm39) |
M383T |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,119,730 (GRCm39) |
L930P |
probably damaging |
Het |
| Ndufaf3 |
C |
T |
9: 108,444,068 (GRCm39) |
R20Q |
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,640,248 (GRCm39) |
S328P |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,144 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4k15b |
T |
A |
14: 50,272,507 (GRCm39) |
M118L |
probably benign |
Het |
| Pdpr |
T |
C |
8: 111,839,342 (GRCm39) |
I155T |
possibly damaging |
Het |
| Phf11b |
A |
T |
14: 59,560,631 (GRCm39) |
I216K |
probably benign |
Het |
| Phkg1 |
T |
C |
5: 129,893,813 (GRCm39) |
|
probably null |
Het |
| Pik3r6 |
A |
G |
11: 68,422,276 (GRCm39) |
Y225C |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,914,356 (GRCm39) |
D1253V |
possibly damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,166,192 (GRCm39) |
F732S |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,799,627 (GRCm39) |
|
probably benign |
Het |
| Slc16a8 |
T |
G |
15: 79,135,432 (GRCm39) |
S459R |
probably damaging |
Het |
| Slc25a12 |
A |
T |
2: 71,123,696 (GRCm39) |
|
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,591,066 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
C |
A |
19: 41,594,824 (GRCm39) |
W1182L |
possibly damaging |
Het |
| Snx2 |
C |
T |
18: 53,327,495 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
T |
17: 80,752,929 (GRCm39) |
V335D |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,872,856 (GRCm39) |
D197G |
probably damaging |
Het |
| Ston2 |
G |
T |
12: 91,615,522 (GRCm39) |
N295K |
possibly damaging |
Het |
| Stpg3 |
A |
G |
2: 25,103,191 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,799,654 (GRCm39) |
I675V |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,294 (GRCm39) |
L389Q |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,699,320 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,681,934 (GRCm39) |
D3012E |
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 |
|
IGL01108:Plppr3
|
APN |
10 |
79,703,355 (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