Incidental Mutation 'R4521:Plpp2'
| ID |
334231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plpp2
|
| Ensembl Gene |
ENSMUSG00000052151 |
| Gene Name |
phospholipid phosphatase 2 |
| Synonyms |
Lpp2, Ppap2c |
| MMRRC Submission |
041764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4521 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79362258-79369621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79366459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 118
(Y118H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063879]
[ENSMUST00000165233]
[ENSMUST00000166804]
[ENSMUST00000218241]
|
| AlphaFold |
Q9DAX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063879
AA Change: Y118H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069670
Gene: ENSMUSG00000052151
AA Change: Y118H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
Blast:acidPPc
|
21 |
70 |
6e-9 |
BLAST |
|
acidPPc
|
99 |
239 |
1.42e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163602
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000165233
AA Change: V67A
|
| SMART Domains |
Protein: ENSMUSP00000127000
Gene: ENSMUSG00000052151
AA Change: V67A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166804
AA Change: Y62H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133247
Gene: ENSMUSG00000052151
AA Change: Y62H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
acidPPc
|
43 |
183 |
1.42e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218241
|
| Meta Mutation Damage Score |
0.8538 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a lipid phosphate phosphohydrolase. It is an integral membrane protein that catalyzes the conversion of phosphatidic acid to diacylglycerol and inorganic phosphate. The transcript is expressed at high levels in lung, liver, and kidney and at low levels in brain and heart. Null mutant mice are viable and fertile and display no overt phenotypic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Bora |
G |
T |
14: 99,305,984 (GRCm39) |
S451I |
probably damaging |
Het |
| Cadm3 |
A |
T |
1: 173,172,630 (GRCm39) |
|
probably null |
Het |
| Car14 |
A |
G |
3: 95,811,690 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdc20b |
A |
G |
13: 113,217,725 (GRCm39) |
I381M |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,540,639 (GRCm39) |
V2449I |
probably benign |
Het |
| Crb2 |
T |
C |
2: 37,685,349 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,218,059 (GRCm39) |
D347E |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,777,871 (GRCm39) |
R372H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,834,238 (GRCm39) |
N4118S |
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,509 (GRCm39) |
R168S |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,355,440 (GRCm39) |
I281T |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,346 (GRCm39) |
N259K |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,273,561 (GRCm39) |
K564E |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,870,626 (GRCm39) |
H2875R |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,452,608 (GRCm39) |
D438G |
possibly damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,376,922 (GRCm39) |
M1K |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,462,825 (GRCm39) |
C612R |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,724,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,042,126 (GRCm39) |
C1315S |
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,884,938 (GRCm39) |
L243H |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,447 (GRCm39) |
D100G |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,041,264 (GRCm39) |
Y801H |
probably damaging |
Het |
| Or51b6b |
C |
T |
7: 103,309,539 (GRCm39) |
R306H |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,050 (GRCm39) |
N136I |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,346,167 (GRCm39) |
V496A |
probably benign |
Het |
| Rbm20 |
A |
G |
19: 53,805,633 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,050,683 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,197 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,085 (GRCm39) |
I287T |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,211,401 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
G |
A |
11: 115,707,932 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Wdr36 |
G |
A |
18: 32,974,201 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Plpp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Plpp2
|
APN |
10 |
79,363,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03327:Plpp2
|
APN |
10 |
79,366,818 (GRCm39) |
splice site |
probably null |
|
|
Trust
|
UTSW |
10 |
79,366,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Plpp2
|
UTSW |
10 |
79,363,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0056:Plpp2
|
UTSW |
10 |
79,363,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0097:Plpp2
|
UTSW |
10 |
79,366,371 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0311:Plpp2
|
UTSW |
10 |
79,363,414 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0840:Plpp2
|
UTSW |
10 |
79,363,378 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1406:Plpp2
|
UTSW |
10 |
79,366,611 (GRCm39) |
splice site |
probably benign |
|
|
R1642:Plpp2
|
UTSW |
10 |
79,366,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3436:Plpp2
|
UTSW |
10 |
79,363,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3437:Plpp2
|
UTSW |
10 |
79,363,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4400:Plpp2
|
UTSW |
10 |
79,363,327 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4873:Plpp2
|
UTSW |
10 |
79,366,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Plpp2
|
UTSW |
10 |
79,366,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Plpp2
|
UTSW |
10 |
79,362,973 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6970:Plpp2
|
UTSW |
10 |
79,366,380 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7383:Plpp2
|
UTSW |
10 |
79,366,841 (GRCm39) |
missense |
probably null |
0.99 |
|
R7902:Plpp2
|
UTSW |
10 |
79,363,378 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7953:Plpp2
|
UTSW |
10 |
79,366,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8237:Plpp2
|
UTSW |
10 |
79,363,294 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9218:Plpp2
|
UTSW |
10 |
79,366,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Plpp2
|
UTSW |
10 |
79,363,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTCTGTCAGAGCCTTG -3'
(R):5'- TCCTTGTAAGACAGAAAAGGGCTTG -3'
Sequencing Primer
(F):5'- TCTGTCAGAGCCTTGCCTGG -3'
(R):5'- CGCAGGATGGGCATGGTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation