Incidental Mutation 'IGL03065:Plppr3'
| ID |
409627 |
| 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 # |
IGL03065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79701880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 321
(T321S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000167250]
[ENSMUST00000172282]
[ENSMUST00000166023]
[ENSMUST00000167707]
[ENSMUST00000165601]
[ENSMUST00000165704]
[ENSMUST00000167897]
[ENSMUST00000165724]
|
| 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: T321S
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000089979
Gene: ENSMUSG00000035835
AA Change: T321S
| 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 benign
Transcript: ENSMUST00000167250
AA Change: T321S
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835
AA Change: T321S
| 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: ENSMUST00000170910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184090
|
| 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: 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: 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: 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
G |
8: 84,665,143 (GRCm39) |
M1322V |
possibly damaging |
Het |
| Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
| Afg2a |
T |
C |
3: 37,486,328 (GRCm39) |
V350A |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,255,031 (GRCm39) |
S109G |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 153,989,562 (GRCm39) |
N250K |
probably damaging |
Het |
| Capn9 |
A |
C |
8: 125,332,298 (GRCm39) |
Y423S |
probably damaging |
Het |
| Cd200r1 |
T |
G |
16: 44,614,645 (GRCm39) |
V308G |
probably benign |
Het |
| Cic |
T |
C |
7: 24,985,246 (GRCm39) |
|
probably benign |
Het |
| Col5a1 |
T |
A |
2: 27,922,757 (GRCm39) |
I275N |
possibly damaging |
Het |
| Col6a4 |
C |
A |
9: 105,918,363 (GRCm39) |
|
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,086,038 (GRCm39) |
R35G |
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,472,015 (GRCm39) |
Y52C |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,169,475 (GRCm39) |
F496L |
probably damaging |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Eaf2 |
C |
T |
16: 36,648,484 (GRCm39) |
R12H |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,418,401 (GRCm39) |
Q644L |
possibly damaging |
Het |
| Gm44865 |
C |
T |
7: 108,165,004 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,733,228 (GRCm39) |
S825L |
probably benign |
Het |
| Gstp3 |
C |
T |
19: 4,108,730 (GRCm39) |
|
probably null |
Het |
| Heph |
T |
A |
X: 95,571,173 (GRCm39) |
I669N |
probably benign |
Het |
| Il12rb1 |
A |
T |
8: 71,273,202 (GRCm39) |
Y635F |
possibly damaging |
Het |
| Ing3 |
G |
A |
6: 21,971,221 (GRCm39) |
A331T |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,686,205 (GRCm39) |
I762F |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,310,907 (GRCm39) |
R510Q |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,461,833 (GRCm39) |
Y1273H |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,115,927 (GRCm39) |
E784G |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,210,802 (GRCm39) |
N1694K |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,235,679 (GRCm39) |
F648S |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,982 (GRCm39) |
H1847R |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,523,993 (GRCm39) |
D840V |
probably damaging |
Het |
| Nxpe2 |
T |
A |
9: 48,230,992 (GRCm39) |
N459I |
possibly damaging |
Het |
| Or4d10c |
C |
A |
19: 12,065,975 (GRCm39) |
L60F |
possibly damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,465 (GRCm39) |
D70Y |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,535 (GRCm39) |
K295E |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,682 (GRCm39) |
F485S |
probably benign |
Het |
| Parp4 |
G |
T |
14: 56,875,326 (GRCm39) |
A1182S |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pla2g15 |
G |
A |
8: 106,886,851 (GRCm39) |
R114H |
probably benign |
Het |
| Rnf113a1 |
A |
G |
X: 36,455,748 (GRCm39) |
D235G |
probably benign |
Het |
| Rsrp1 |
A |
G |
4: 134,651,700 (GRCm39) |
T155A |
possibly damaging |
Het |
| Simc1 |
G |
T |
13: 54,685,025 (GRCm39) |
C87F |
probably damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,194,569 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
C |
A |
6: 141,938,228 (GRCm39) |
L230F |
probably damaging |
Het |
| Smyd5 |
A |
G |
6: 85,419,146 (GRCm39) |
D276G |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,640,688 (GRCm39) |
Y953C |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,219,361 (GRCm39) |
S2033T |
possibly damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,115 (GRCm39) |
T392A |
probably damaging |
Het |
| Tsks |
T |
C |
7: 44,592,724 (GRCm39) |
V6A |
probably damaging |
Het |
| Yjefn3 |
A |
G |
8: 70,342,206 (GRCm39) |
|
probably benign |
Het |
| Zfp263 |
T |
G |
16: 3,564,344 (GRCm39) |
D211E |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,421,661 (GRCm39) |
F51L |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,897,685 (GRCm39) |
M413K |
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 |
|
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 |
2016-08-02 |
Incidental Mutation