Incidental Mutation 'R5102:Plppr3'
ID |
392431 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plppr3
|
Ensembl Gene |
ENSMUSG00000035835 |
Gene Name |
phospholipid phosphatase related 3 |
Synonyms |
BC005764, Lppr3 |
MMRRC Submission |
042690-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R5102 (G1)
|
Quality Score |
164 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
79696309-79710468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 79701220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 541
(P541T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000092325]
[ENSMUST00000095457]
[ENSMUST00000167250]
[ENSMUST00000165704]
[ENSMUST00000167897]
[ENSMUST00000165724]
[ENSMUST00000166023]
[ENSMUST00000165601]
[ENSMUST00000167707]
[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 |
possibly damaging
Transcript: ENSMUST00000092325
AA Change: P541T
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000089979 Gene: ENSMUSG00000035835 AA Change: P541T
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: ENSMUST00000166057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170910
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165153
|
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: 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 |
|
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: 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: 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 |
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox4 |
C |
T |
1: 58,279,937 (GRCm39) |
R518C |
probably damaging |
Het |
Apbb2 |
A |
T |
5: 66,469,592 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
C |
T |
10: 79,857,262 (GRCm39) |
P254S |
probably benign |
Het |
Arl4c |
T |
C |
1: 88,629,322 (GRCm39) |
D22G |
probably damaging |
Het |
Asxl1 |
A |
G |
2: 153,242,875 (GRCm39) |
T1142A |
probably benign |
Het |
BC035044 |
T |
C |
6: 128,861,949 (GRCm39) |
|
probably benign |
Het |
Bmp4 |
T |
C |
14: 46,621,458 (GRCm39) |
N362S |
probably damaging |
Het |
Cbll1 |
G |
T |
12: 31,537,912 (GRCm39) |
T280N |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 18,986,971 (GRCm39) |
T401S |
probably benign |
Het |
Cmklr2 |
A |
G |
1: 63,222,326 (GRCm39) |
V303A |
probably damaging |
Het |
Cps1 |
A |
T |
1: 67,245,952 (GRCm39) |
M1148L |
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,873,832 (GRCm39) |
D1092G |
probably damaging |
Het |
Cyth2 |
A |
G |
7: 45,460,126 (GRCm39) |
S173P |
probably damaging |
Het |
D6Ertd527e |
A |
T |
6: 87,088,793 (GRCm39) |
I319F |
unknown |
Het |
Dchs1 |
A |
T |
7: 105,421,384 (GRCm39) |
H345Q |
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,476,640 (GRCm39) |
V211E |
probably damaging |
Het |
Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
Dnajb5 |
G |
A |
4: 42,956,639 (GRCm39) |
D109N |
possibly damaging |
Het |
Dner |
A |
T |
1: 84,383,691 (GRCm39) |
N564K |
probably damaging |
Het |
Fam234b |
T |
C |
6: 135,186,282 (GRCm39) |
S97P |
probably benign |
Het |
Fam53b |
G |
A |
7: 132,317,684 (GRCm39) |
R60* |
probably null |
Het |
Fmo3 |
T |
G |
1: 162,791,546 (GRCm39) |
K244Q |
probably benign |
Het |
Golim4 |
A |
G |
3: 75,810,579 (GRCm39) |
I192T |
possibly damaging |
Het |
Gprin1 |
T |
C |
13: 54,887,576 (GRCm39) |
M233V |
probably benign |
Het |
Gtf2f1 |
A |
T |
17: 57,310,626 (GRCm39) |
V443D |
probably damaging |
Het |
Hmgcs2 |
T |
C |
3: 98,187,786 (GRCm39) |
|
probably benign |
Het |
Ide |
T |
A |
19: 37,292,383 (GRCm39) |
I271L |
unknown |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kif14 |
A |
G |
1: 136,444,141 (GRCm39) |
I1378V |
probably benign |
Het |
Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
Lhx6 |
T |
C |
2: 35,984,222 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,319,502 (GRCm39) |
G2007D |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,709,304 (GRCm39) |
K142R |
probably damaging |
Het |
Macroh2a1 |
C |
G |
13: 56,243,936 (GRCm39) |
|
probably null |
Het |
Mrpl2 |
G |
A |
17: 46,960,964 (GRCm39) |
R286Q |
probably benign |
Het |
Mtrfr |
A |
G |
5: 124,476,954 (GRCm39) |
N83D |
probably damaging |
Het |
Nacad |
T |
A |
11: 6,548,528 (GRCm39) |
D1402V |
probably damaging |
Het |
Ndfip2 |
T |
C |
14: 105,535,539 (GRCm39) |
I275T |
possibly damaging |
Het |
Neb |
A |
C |
2: 52,116,582 (GRCm39) |
V4131G |
possibly damaging |
Het |
Nfe2l1 |
G |
A |
11: 96,712,934 (GRCm39) |
A83V |
probably damaging |
Het |
Nos3 |
A |
G |
5: 24,576,625 (GRCm39) |
D418G |
probably damaging |
Het |
Or12e7 |
A |
T |
2: 87,288,138 (GRCm39) |
M210L |
probably benign |
Het |
Or1n1b |
T |
A |
2: 36,780,056 (GRCm39) |
K268M |
possibly damaging |
Het |
Plcd4 |
A |
G |
1: 74,604,313 (GRCm39) |
T764A |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,637,771 (GRCm39) |
I191T |
possibly damaging |
Het |
Pramel18 |
T |
C |
4: 101,766,436 (GRCm39) |
F40S |
probably damaging |
Het |
Rab11fip1 |
T |
C |
8: 27,646,402 (GRCm39) |
K225E |
probably damaging |
Het |
Rara |
A |
T |
11: 98,857,185 (GRCm39) |
Q64L |
possibly damaging |
Het |
Rtkn |
G |
A |
6: 83,126,754 (GRCm39) |
V305M |
probably damaging |
Het |
Sh2b1 |
A |
C |
7: 126,070,408 (GRCm39) |
F399V |
probably benign |
Het |
Slc7a4 |
T |
C |
16: 17,393,482 (GRCm39) |
T106A |
probably damaging |
Het |
Srcap |
G |
A |
7: 127,129,795 (GRCm39) |
G539D |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,869,974 (GRCm39) |
|
probably null |
Het |
Zfp267 |
G |
A |
3: 36,216,814 (GRCm39) |
C55Y |
possibly 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 |
|
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 |
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'- CTGTTTACAGCTGCTTCTGAAG -3'
(R):5'- ACTCTACCCTACTGTCCAGG -3'
Sequencing Primer
(F):5'- AGCAGACAGGTGCACCACTG -3'
(R):5'- AGTCATCCTGCCTCCAAGG -3'
|
Posted On |
2016-06-15 |