Incidental Mutation 'R9472:Plppr3'
| ID |
715531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plppr3
|
| Ensembl Gene |
ENSMUSG00000035835 |
| Gene Name |
phospholipid phosphatase related 3 |
| Synonyms |
BC005764, Lppr3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R9472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79702711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 184
(D184G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000165601]
[ENSMUST00000165704]
[ENSMUST00000165724]
[ENSMUST00000166023]
[ENSMUST00000167250]
[ENSMUST00000167707]
[ENSMUST00000167897]
[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: D184G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089979
Gene: ENSMUSG00000035835
AA Change: D184G
| 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 |
probably damaging
Transcript: ENSMUST00000165601
AA Change: D184G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128681
Gene: ENSMUSG00000035835
AA Change: D184G
| 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: 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167250
AA Change: D184G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835
AA Change: D184G
| 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: 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 |
silent
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: 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
G |
8: 25,127,248 (GRCm39) |
K449N |
probably benign |
Het |
| Adam39 |
G |
A |
8: 41,279,351 (GRCm39) |
V581I |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,254,841 (GRCm39) |
F1625S |
|
Het |
| Aox3 |
G |
T |
1: 58,215,669 (GRCm39) |
V1034L |
possibly damaging |
Het |
| Baz2a |
T |
G |
10: 127,948,624 (GRCm39) |
S302A |
probably benign |
Het |
| Capn9 |
T |
C |
8: 125,325,534 (GRCm39) |
|
probably null |
Het |
| Ccdc153 |
A |
T |
9: 44,154,923 (GRCm39) |
Q104L |
possibly damaging |
Het |
| Cdh1 |
A |
T |
8: 107,380,248 (GRCm39) |
N168I |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,539,676 (GRCm39) |
|
probably null |
Het |
| Ctsb |
T |
C |
14: 63,379,186 (GRCm39) |
V266A |
probably damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,502,043 (GRCm39) |
R144L |
probably damaging |
Het |
| Elmo1 |
C |
T |
13: 20,470,897 (GRCm39) |
A263V |
probably benign |
Het |
| Enkur |
T |
C |
2: 21,201,590 (GRCm39) |
R32G |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,817,285 (GRCm39) |
N4339K |
possibly damaging |
Het |
| Gsn |
T |
G |
2: 35,182,741 (GRCm39) |
M268R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,843 (GRCm39) |
W2659R |
probably damaging |
Het |
| Hycc2 |
A |
G |
1: 58,574,641 (GRCm39) |
V300A |
possibly damaging |
Het |
| Ino80e |
A |
G |
7: 126,461,127 (GRCm39) |
V40A |
unknown |
Het |
| Ints2 |
T |
C |
11: 86,133,824 (GRCm39) |
T409A |
|
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,596,197 (GRCm39) |
V787A |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,629,273 (GRCm39) |
V465A |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,733,453 (GRCm39) |
R2288L |
unknown |
Het |
| Megf6 |
G |
A |
4: 154,333,910 (GRCm39) |
G213S |
probably damaging |
Het |
| Mt2 |
T |
A |
8: 94,899,999 (GRCm39) |
C44S |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,159 (GRCm39) |
V690A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,894,495 (GRCm39) |
H6670R |
|
Het |
| Or4c111 |
A |
C |
2: 88,843,517 (GRCm39) |
I297S |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
| Pcdhb17 |
C |
A |
18: 37,618,919 (GRCm39) |
N236K |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,308,079 (GRCm39) |
S1119P |
probably damaging |
Het |
| Rassf6 |
A |
T |
5: 90,765,572 (GRCm39) |
Y46* |
probably null |
Het |
| Rmdn2 |
T |
A |
17: 79,989,096 (GRCm39) |
I405N |
possibly damaging |
Het |
| Rsbn1l |
A |
C |
5: 21,113,119 (GRCm39) |
S468A |
probably damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,260,296 (GRCm39) |
K34E |
probably benign |
Het |
| Runx3 |
A |
G |
4: 134,898,441 (GRCm39) |
D204G |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,970,798 (GRCm39) |
I866T |
possibly damaging |
Het |
| Sgtb |
A |
C |
13: 104,247,681 (GRCm39) |
E28D |
probably benign |
Het |
| Slc38a8 |
T |
A |
8: 120,227,888 (GRCm39) |
K14M |
probably damaging |
Het |
| Spast |
T |
C |
17: 74,681,143 (GRCm39) |
V478A |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,719,101 (GRCm39) |
T147A |
probably damaging |
Het |
| Tmem208 |
T |
C |
8: 106,055,027 (GRCm39) |
F79S |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,052 (GRCm39) |
I250V |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,261,128 (GRCm39) |
T1628A |
probably benign |
Het |
| Vmn2r14 |
G |
T |
5: 109,367,962 (GRCm39) |
N343K |
probably benign |
Het |
| Xrcc6 |
T |
A |
15: 81,913,328 (GRCm39) |
Y320* |
probably null |
Het |
| Zbtb10 |
A |
C |
3: 9,343,355 (GRCm39) |
T627P |
probably benign |
Het |
| Zfp532 |
A |
T |
18: 65,756,624 (GRCm39) |
K186* |
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 |
|
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 |
|
X0067:Plppr3
|
UTSW |
10 |
79,701,118 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACATCTAGCCAACGGGTG -3'
(R):5'- GCCTTGAAGCCCATTCTTGG -3'
Sequencing Primer
(F):5'- ATCGGGGTCCATCACTCAC -3'
(R):5'- ACAGGCTTGGGGGAACACC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation