Incidental Mutation 'R4685:Plppr3'
ID |
353618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plppr3
|
Ensembl Gene |
ENSMUSG00000035835 |
Gene Name |
phospholipid phosphatase related 3 |
Synonyms |
BC005764, Lppr3 |
MMRRC Submission |
041936-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R4685 (G1)
|
Quality Score |
213 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79703359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 42
(T42A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000166023]
[ENSMUST00000165601]
[ENSMUST00000167250]
[ENSMUST00000167707]
[ENSMUST00000167897]
[ENSMUST00000165704]
[ENSMUST00000172282]
[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 damaging
Transcript: ENSMUST00000092325
AA Change: T42A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089979 Gene: ENSMUSG00000035835 AA Change: T42A
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: ENSMUST00000166023
AA Change: T42A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127171 Gene: ENSMUSG00000035835 AA Change: T42A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165601
AA Change: T42A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128681 Gene: ENSMUSG00000035835 AA Change: T42A
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 |
probably damaging
Transcript: ENSMUST00000167250
AA Change: T42A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130695 Gene: ENSMUSG00000035835 AA Change: T42A
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: ENSMUST00000167707
AA Change: T42A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132994 Gene: ENSMUSG00000035835 AA Change: T42A
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: T42A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127972 Gene: ENSMUSG00000035835 AA Change: T42A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
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: 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 |
|
Meta Mutation Damage Score |
0.5367 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
97% (71/73) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
T |
C |
12: 17,057,185 (GRCm39) |
D104G |
probably damaging |
Het |
2810021J22Rik |
T |
C |
11: 58,771,750 (GRCm39) |
S411P |
probably damaging |
Het |
Adcy2 |
T |
C |
13: 68,876,024 (GRCm39) |
R493G |
probably benign |
Het |
Adcy8 |
A |
G |
15: 64,609,287 (GRCm39) |
I874T |
probably benign |
Het |
Ano2 |
G |
T |
6: 125,957,087 (GRCm39) |
E619* |
probably null |
Het |
Apob |
A |
G |
12: 8,056,456 (GRCm39) |
K1613R |
probably benign |
Het |
Arhgef10 |
T |
A |
8: 15,006,963 (GRCm39) |
F476Y |
probably damaging |
Het |
Bmf |
G |
A |
2: 118,377,283 (GRCm39) |
A74V |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,467,139 (GRCm38) |
E925G |
possibly damaging |
Het |
Ccdc162 |
T |
C |
10: 41,557,682 (GRCm39) |
D181G |
possibly damaging |
Het |
Ccdc85c |
A |
T |
12: 108,173,434 (GRCm39) |
C387S |
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,374,410 (GRCm39) |
V974A |
possibly damaging |
Het |
Cplx3 |
T |
A |
9: 57,516,483 (GRCm39) |
I407F |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,250,488 (GRCm39) |
F1703S |
probably damaging |
Het |
Dsg3 |
C |
A |
18: 20,672,793 (GRCm39) |
D821E |
probably benign |
Het |
Ecel1 |
G |
T |
1: 87,080,668 (GRCm39) |
|
probably null |
Het |
Edn1 |
A |
T |
13: 42,458,729 (GRCm39) |
|
probably null |
Het |
Egfr |
G |
A |
11: 16,808,980 (GRCm39) |
C58Y |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,574,596 (GRCm39) |
N282D |
probably benign |
Het |
Fhit |
T |
A |
14: 9,870,091 (GRCm38) |
Q63L |
probably damaging |
Het |
Gabarapl2 |
T |
C |
8: 112,669,150 (GRCm39) |
V36A |
probably benign |
Het |
Glis1 |
T |
C |
4: 107,424,842 (GRCm39) |
V151A |
probably benign |
Het |
Gm12695 |
A |
G |
4: 96,650,217 (GRCm39) |
S210P |
probably damaging |
Het |
Gpat4 |
TAGAAGA |
TAGA |
8: 23,672,865 (GRCm39) |
|
probably benign |
Het |
H2-M10.4 |
G |
A |
17: 36,772,688 (GRCm39) |
A98V |
probably benign |
Het |
Hhat |
C |
A |
1: 192,277,362 (GRCm39) |
G366C |
probably damaging |
Het |
Hydin |
C |
A |
8: 111,189,154 (GRCm39) |
A1186E |
probably damaging |
Het |
Itgb2 |
T |
A |
10: 77,385,937 (GRCm39) |
|
probably null |
Het |
Kank1 |
C |
T |
19: 25,387,398 (GRCm39) |
A329V |
possibly damaging |
Het |
Kdm4b |
T |
A |
17: 56,708,675 (GRCm39) |
S1070T |
probably benign |
Het |
Kyat1 |
A |
G |
2: 30,078,277 (GRCm39) |
Y101H |
probably damaging |
Het |
Map4k5 |
T |
C |
12: 69,858,140 (GRCm39) |
K679R |
probably benign |
Het |
Mill1 |
A |
T |
7: 17,989,853 (GRCm39) |
D45V |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,412,233 (GRCm39) |
Y743N |
probably damaging |
Het |
Nox4 |
C |
G |
7: 86,946,716 (GRCm39) |
I137M |
probably benign |
Het |
Odf4 |
A |
G |
11: 68,813,665 (GRCm39) |
|
probably null |
Het |
Ostf1 |
A |
T |
19: 18,558,652 (GRCm39) |
D210E |
probably damaging |
Het |
Paxip1 |
A |
T |
5: 27,966,675 (GRCm39) |
|
probably null |
Het |
Pitrm1 |
A |
G |
13: 6,606,578 (GRCm39) |
T211A |
probably benign |
Het |
Pla2g4f |
A |
G |
2: 120,135,496 (GRCm39) |
S393P |
probably damaging |
Het |
Plxna4 |
C |
A |
6: 32,142,779 (GRCm39) |
G1559W |
probably damaging |
Het |
Ppp1r13l |
T |
C |
7: 19,109,308 (GRCm39) |
|
probably null |
Het |
Prex1 |
C |
T |
2: 166,480,252 (GRCm39) |
V163M |
probably damaging |
Het |
Prl6a1 |
A |
G |
13: 27,500,307 (GRCm39) |
T93A |
probably benign |
Het |
Psg16 |
T |
C |
7: 16,824,459 (GRCm39) |
V81A |
probably benign |
Het |
Rbm33 |
A |
T |
5: 28,613,280 (GRCm39) |
|
probably benign |
Het |
Rest |
C |
T |
5: 77,423,090 (GRCm39) |
P298L |
possibly damaging |
Het |
Rhobtb3 |
G |
A |
13: 76,027,051 (GRCm39) |
R441* |
probably null |
Het |
Rims4 |
T |
A |
2: 163,706,914 (GRCm39) |
K155* |
probably null |
Het |
Rps6kb1 |
C |
T |
11: 86,410,713 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
C |
13: 11,707,532 (GRCm39) |
D2835G |
probably damaging |
Het |
Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
Sell |
A |
T |
1: 163,893,829 (GRCm39) |
I175F |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,855,211 (GRCm39) |
D295G |
probably damaging |
Het |
Sphk1 |
A |
G |
11: 116,426,106 (GRCm39) |
D96G |
probably damaging |
Het |
Spns3 |
A |
T |
11: 72,428,096 (GRCm39) |
V228D |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,469,828 (GRCm39) |
S4500G |
probably damaging |
Het |
Syt9 |
T |
A |
7: 107,035,678 (GRCm39) |
C232S |
possibly damaging |
Het |
Terf1 |
A |
G |
1: 15,889,185 (GRCm39) |
I176V |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,209,854 (GRCm39) |
A428T |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,499,711 (GRCm39) |
N321S |
probably benign |
Het |
Tomm40 |
A |
G |
7: 19,435,761 (GRCm39) |
I323T |
probably benign |
Het |
Try5 |
T |
A |
6: 41,288,233 (GRCm39) |
Q240L |
possibly damaging |
Het |
Vmn1r213 |
A |
T |
13: 23,195,800 (GRCm39) |
I128L |
probably benign |
Het |
Vmn2r80 |
T |
C |
10: 79,030,162 (GRCm39) |
F663L |
possibly damaging |
Het |
Znfx1 |
T |
A |
2: 166,880,950 (GRCm39) |
Y278F |
probably damaging |
Het |
Zpbp2 |
A |
G |
11: 98,442,117 (GRCm39) |
|
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 |
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 |
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'- CCCCAGAGACAGATAAGTCAGG -3'
(R):5'- GGTCTAGGTGCTGATGAAACCC -3'
Sequencing Primer
(F):5'- TAAGGTCACAGTGAGGGCCTC -3'
(R):5'- TGATGAAACCCCTGCTTGG -3'
|
Posted On |
2015-10-21 |