Incidental Mutation 'R1985:Plppr3'
ID |
220491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plppr3
|
Ensembl Gene |
ENSMUSG00000035835 |
Gene Name |
phospholipid phosphatase related 3 |
Synonyms |
BC005764, Lppr3 |
MMRRC Submission |
039997-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R1985 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 79703294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 63
(Y63*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000166023]
[ENSMUST00000167250]
[ENSMUST00000167897]
[ENSMUST00000165601]
[ENSMUST00000167707]
[ENSMUST00000165724]
[ENSMUST00000165704]
[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 null
Transcript: ENSMUST00000092325
AA Change: Y63*
|
SMART Domains |
Protein: ENSMUSP00000089979 Gene: ENSMUSG00000035835 AA Change: Y63*
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 |
probably null
Transcript: ENSMUST00000166023
AA Change: Y63*
|
SMART Domains |
Protein: ENSMUSP00000127171 Gene: ENSMUSG00000035835 AA Change: Y63*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167250
AA Change: Y63*
|
SMART Domains |
Protein: ENSMUSP00000130695 Gene: ENSMUSG00000035835 AA Change: Y63*
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 null
Transcript: ENSMUST00000167897
AA Change: Y63*
|
SMART Domains |
Protein: ENSMUSP00000127972 Gene: ENSMUSG00000035835 AA Change: Y63*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000165601
AA Change: Y63*
|
SMART Domains |
Protein: ENSMUSP00000128681 Gene: ENSMUSG00000035835 AA Change: Y63*
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 null
Transcript: ENSMUST00000167707
AA Change: Y63*
|
SMART Domains |
Protein: ENSMUSP00000132994 Gene: ENSMUSG00000035835 AA Change: Y63*
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 |
noncoding transcript
Transcript: ENSMUST00000165153
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170910
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166057
|
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: 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 |
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
94% (76/81) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
C |
A |
8: 71,916,157 (GRCm39) |
|
probably benign |
Het |
Adam5 |
A |
T |
8: 25,236,755 (GRCm39) |
D648E |
probably benign |
Het |
Akr1d1 |
A |
G |
6: 37,535,336 (GRCm39) |
D240G |
probably damaging |
Het |
Ankmy2 |
A |
G |
12: 36,207,363 (GRCm39) |
H3R |
possibly damaging |
Het |
Anpep |
A |
C |
7: 79,490,605 (GRCm39) |
|
probably null |
Het |
Apobr |
A |
G |
7: 126,186,903 (GRCm39) |
T20A |
possibly damaging |
Het |
Atp2a2 |
A |
T |
5: 122,604,899 (GRCm39) |
Y427N |
probably benign |
Het |
Camkk2 |
A |
C |
5: 122,902,190 (GRCm39) |
S40A |
possibly damaging |
Het |
Camp |
T |
C |
9: 109,677,497 (GRCm39) |
N112S |
probably benign |
Het |
Cbx7 |
A |
G |
15: 79,802,591 (GRCm39) |
S229P |
probably damaging |
Het |
Cnot2 |
T |
C |
10: 116,363,781 (GRCm39) |
N41S |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,605 (GRCm39) |
F272L |
possibly damaging |
Het |
Dct |
T |
C |
14: 118,273,954 (GRCm39) |
K318E |
probably benign |
Het |
Dhrs11 |
A |
C |
11: 84,719,633 (GRCm39) |
L31V |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
Dnajc7 |
A |
G |
11: 100,481,718 (GRCm39) |
S305P |
probably benign |
Het |
Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
Flnc |
A |
G |
6: 29,444,415 (GRCm39) |
|
probably benign |
Het |
Garin3 |
T |
C |
11: 46,298,693 (GRCm39) |
*666Q |
probably null |
Het |
Gm7535 |
A |
G |
17: 18,131,800 (GRCm39) |
|
probably benign |
Het |
Grtp1 |
A |
G |
8: 13,229,376 (GRCm39) |
F313L |
probably damaging |
Het |
Haus6 |
T |
C |
4: 86,511,846 (GRCm39) |
Y425C |
possibly damaging |
Het |
Hdac1 |
T |
A |
4: 129,422,753 (GRCm39) |
N83Y |
possibly damaging |
Het |
Hdlbp |
A |
G |
1: 93,358,840 (GRCm39) |
I237T |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,046,442 (GRCm39) |
D481E |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,264,780 (GRCm39) |
I737V |
probably benign |
Het |
Il23r |
T |
A |
6: 67,467,652 (GRCm39) |
|
probably null |
Het |
Il24 |
G |
A |
1: 130,810,268 (GRCm39) |
T196I |
probably benign |
Het |
Ints3 |
C |
T |
3: 90,307,610 (GRCm39) |
|
probably null |
Het |
Kcna6 |
T |
C |
6: 126,715,473 (GRCm39) |
E472G |
probably benign |
Het |
Kcnj16 |
C |
T |
11: 110,916,409 (GRCm39) |
T357M |
probably benign |
Het |
Kdm4b |
T |
A |
17: 56,708,302 (GRCm39) |
V957E |
probably damaging |
Het |
Kif21b |
G |
A |
1: 136,075,284 (GRCm39) |
D166N |
probably damaging |
Het |
Klhl11 |
G |
T |
11: 100,354,070 (GRCm39) |
Q584K |
probably benign |
Het |
Krt9 |
A |
T |
11: 100,080,817 (GRCm39) |
M345K |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,331,150 (GRCm39) |
|
probably benign |
Het |
Lilrb4b |
A |
T |
10: 51,357,831 (GRCm39) |
Q80L |
possibly damaging |
Het |
Lrrc69 |
T |
C |
4: 14,708,669 (GRCm39) |
E225G |
possibly damaging |
Het |
Ly9 |
A |
G |
1: 171,427,341 (GRCm39) |
S405P |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,071,740 (GRCm39) |
D519G |
possibly damaging |
Het |
Nav3 |
G |
A |
10: 109,606,045 (GRCm39) |
|
probably benign |
Het |
Nfkb1 |
G |
A |
3: 135,321,110 (GRCm39) |
T215I |
possibly damaging |
Het |
Ninj2 |
A |
T |
6: 120,175,600 (GRCm39) |
|
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,482,244 (GRCm39) |
C209R |
probably damaging |
Het |
Or13a25 |
G |
A |
7: 140,247,734 (GRCm39) |
C171Y |
probably damaging |
Het |
Or2d4 |
A |
G |
7: 106,544,133 (GRCm39) |
I25T |
probably benign |
Het |
Or2j6 |
A |
T |
7: 139,980,713 (GRCm39) |
M82K |
possibly damaging |
Het |
Or2t44 |
A |
C |
11: 58,677,210 (GRCm39) |
D50A |
probably damaging |
Het |
Or2y1g |
T |
C |
11: 49,171,110 (GRCm39) |
I45T |
probably damaging |
Het |
Or52z14 |
A |
T |
7: 103,252,879 (GRCm39) |
Y6F |
probably benign |
Het |
Otud4 |
G |
C |
8: 80,366,641 (GRCm39) |
R36P |
probably damaging |
Het |
Pcnt |
C |
T |
10: 76,216,171 (GRCm39) |
R2239H |
possibly damaging |
Het |
Pgbd5 |
T |
A |
8: 125,097,331 (GRCm39) |
M491L |
probably benign |
Het |
Pitrm1 |
A |
T |
13: 6,608,220 (GRCm39) |
D316V |
probably damaging |
Het |
Plod3 |
A |
G |
5: 137,019,707 (GRCm39) |
|
probably null |
Het |
Pramel52-ps |
A |
T |
5: 94,531,931 (GRCm39) |
I272L |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,388,433 (GRCm39) |
D323G |
probably damaging |
Het |
Psmd11 |
A |
T |
11: 80,336,089 (GRCm39) |
I114F |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rbp3 |
T |
G |
14: 33,678,418 (GRCm39) |
S789A |
probably benign |
Het |
Rfxap |
C |
A |
3: 54,714,747 (GRCm39) |
R117L |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,208,710 (GRCm39) |
M171K |
probably damaging |
Het |
Scin |
A |
G |
12: 40,183,907 (GRCm39) |
|
probably null |
Het |
Scn11a |
A |
G |
9: 119,583,744 (GRCm39) |
S1624P |
probably benign |
Het |
Slc41a3 |
G |
A |
6: 90,619,210 (GRCm39) |
V330M |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,370,469 (GRCm39) |
I237V |
probably benign |
Het |
Spag6 |
A |
G |
2: 18,736,930 (GRCm39) |
I218V |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,599,638 (GRCm39) |
T257A |
possibly damaging |
Het |
Tbc1d24 |
G |
A |
17: 24,426,938 (GRCm39) |
R318* |
probably null |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Trpm3 |
T |
A |
19: 22,903,446 (GRCm39) |
Y1069N |
possibly damaging |
Het |
Tuba8 |
A |
G |
6: 121,197,479 (GRCm39) |
D47G |
probably benign |
Het |
Tulp3 |
A |
T |
6: 128,303,769 (GRCm39) |
S277T |
probably benign |
Het |
Uqcc6 |
T |
A |
10: 82,456,051 (GRCm39) |
T37S |
possibly damaging |
Het |
Wdr7 |
GTT |
GT |
18: 63,893,654 (GRCm39) |
|
probably null |
Het |
Ybx2 |
A |
G |
11: 69,827,294 (GRCm39) |
|
probably null |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp788 |
T |
A |
7: 41,299,905 (GRCm39) |
I795N |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCAGACAGTAGACCATGC -3'
(R):5'- CTCCTATGTATAGTGCAGCTGC -3'
Sequencing Primer
(F):5'- GACAGTAGACCATGCCCTCG -3'
(R):5'- GGATCTGTGGGCCATGC -3'
|
Posted On |
2014-08-25 |