Incidental Mutation 'R2355:Plppr3'
| ID |
246878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plppr3
|
| Ensembl Gene |
ENSMUSG00000035835 |
| Gene Name |
phospholipid phosphatase related 3 |
| Synonyms |
BC005764, Lppr3 |
| MMRRC Submission |
040337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R2355 (G1)
|
| Quality Score |
162 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79701194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 549
(M549I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000167250]
[ENSMUST00000172282]
[ENSMUST00000166023]
[ENSMUST00000165724]
[ENSMUST00000165601]
[ENSMUST00000165704]
[ENSMUST00000167897]
[ENSMUST00000167707]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000092325
AA Change: M549I
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000089979
Gene: ENSMUSG00000035835
AA Change: M549I
| 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: ENSMUST00000166057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166593
|
| 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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Ahcyl1 |
A |
G |
3: 107,577,533 (GRCm39) |
S296P |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,113,673 (GRCm39) |
V524A |
probably damaging |
Het |
| Amn |
C |
A |
12: 111,238,246 (GRCm39) |
D53E |
probably damaging |
Het |
| Bbof1 |
A |
G |
12: 84,470,223 (GRCm39) |
E33G |
probably damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,578,114 (GRCm39) |
E106G |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,479,560 (GRCm39) |
S226T |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,801,350 (GRCm39) |
S698I |
possibly damaging |
Het |
| Chst2 |
A |
G |
9: 95,288,148 (GRCm39) |
L66P |
probably damaging |
Het |
| Cps1 |
C |
T |
1: 67,195,383 (GRCm39) |
P268L |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp3a59 |
A |
T |
5: 146,036,622 (GRCm39) |
M275L |
probably benign |
Het |
| Ddx41 |
T |
G |
13: 55,682,113 (GRCm39) |
M232L |
probably benign |
Het |
| Dnah6 |
C |
A |
6: 73,133,404 (GRCm39) |
A1068S |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,621,661 (GRCm39) |
I1155V |
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,567,565 (GRCm39) |
V611I |
probably damaging |
Het |
| Epyc |
A |
G |
10: 97,512,875 (GRCm39) |
Y243C |
probably damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,226,570 (GRCm39) |
Q568* |
probably null |
Het |
| Gm5930 |
A |
G |
14: 44,573,918 (GRCm39) |
S105P |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,389,810 (GRCm39) |
D2032G |
probably benign |
Het |
| Gps2 |
AGTGCT |
A |
11: 69,806,207 (GRCm39) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,376,289 (GRCm39) |
Y136C |
probably damaging |
Het |
| Il12b |
A |
G |
11: 44,301,039 (GRCm39) |
E185G |
probably benign |
Het |
| Kat7 |
A |
C |
11: 95,182,407 (GRCm39) |
I231R |
probably benign |
Het |
| Kcmf1 |
A |
T |
6: 72,827,466 (GRCm39) |
I58N |
probably damaging |
Het |
| Lmf2 |
A |
T |
15: 89,235,966 (GRCm39) |
V646E |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,126,121 (GRCm39) |
Q409R |
probably damaging |
Het |
| Lmod1 |
T |
A |
1: 135,292,253 (GRCm39) |
H369Q |
probably benign |
Het |
| M1ap |
G |
A |
6: 82,933,484 (GRCm39) |
A13T |
probably benign |
Het |
| Mapk8ip2 |
G |
T |
15: 89,343,168 (GRCm39) |
V637L |
probably benign |
Het |
| Mettl25 |
C |
A |
10: 105,599,316 (GRCm39) |
V570L |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,508,668 (GRCm39) |
N449K |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,020 (GRCm39) |
M166K |
probably benign |
Het |
| Or5b24 |
T |
C |
19: 12,912,383 (GRCm39) |
S94P |
possibly damaging |
Het |
| Or5d18 |
T |
A |
2: 87,865,379 (GRCm39) |
I35F |
probably damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,711 (GRCm39) |
C238Y |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,169 (GRCm39) |
S516R |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,912,361 (GRCm39) |
V740A |
probably benign |
Het |
| Rabgef1 |
C |
T |
5: 130,240,928 (GRCm39) |
T349M |
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,109 (GRCm39) |
C344R |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,611,455 (GRCm39) |
Q172R |
possibly damaging |
Het |
| Smg9 |
G |
A |
7: 24,119,546 (GRCm39) |
|
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
A |
T |
9: 97,241,293 (GRCm39) |
N646K |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,896,735 (GRCm39) |
I1181V |
probably benign |
Het |
| Vwa5b1 |
C |
A |
4: 138,319,221 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATTCCAGGCTGTTTACAG -3'
(R):5'- ACTCTACCCTACTGTCCAGG -3'
Sequencing Primer
(F):5'- CTGTTTACAGCTGCTTCTGAAG -3'
(R):5'- AGTCATCCTGCCTCCAAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation