Incidental Mutation 'R0044:Plppr5'
| ID |
15689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plppr5
|
| Ensembl Gene |
ENSMUSG00000033342 |
| Gene Name |
phospholipid phosphatase related 5 |
| Synonyms |
Lppr5, 4833424O15Rik |
| MMRRC Submission |
038338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0044 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
117368274-117483157 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 117465538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039564]
[ENSMUST00000106473]
|
| AlphaFold |
Q8BJ52 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039564
|
| SMART Domains |
Protein: ENSMUSP00000045121
Gene: ENSMUSG00000033342
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
acidPPc
|
123 |
267 |
8.27e-20 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106473
|
| SMART Domains |
Protein: ENSMUSP00000102081
Gene: ENSMUSG00000033342
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
acidPPc
|
123 |
267 |
8.27e-20 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 79.0%
- 3x: 68.4%
- 10x: 42.5%
- 20x: 22.8%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,453,357 (GRCm39) |
|
probably benign |
Het |
| Adcy2 |
A |
G |
13: 68,876,018 (GRCm39) |
S495P |
possibly damaging |
Het |
| Asxl1 |
C |
T |
2: 153,242,129 (GRCm39) |
T893I |
probably benign |
Het |
| Bpifb2 |
C |
T |
2: 153,724,599 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,279,138 (GRCm39) |
L190H |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,483,753 (GRCm39) |
V830A |
probably benign |
Het |
| Degs2 |
T |
C |
12: 108,658,413 (GRCm39) |
N189D |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,303,612 (GRCm39) |
A1431T |
probably damaging |
Het |
| Diras1 |
G |
T |
10: 80,857,972 (GRCm39) |
S93* |
probably null |
Het |
| Emc3 |
C |
G |
6: 113,508,344 (GRCm39) |
V34L |
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,358,020 (GRCm39) |
Y681* |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,355,457 (GRCm39) |
M2236K |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,302,520 (GRCm39) |
Y2948F |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,348,058 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,357,899 (GRCm39) |
I377F |
probably damaging |
Het |
| Mavs |
C |
A |
2: 131,083,944 (GRCm39) |
T147N |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,061,285 (GRCm39) |
V492A |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,222,083 (GRCm39) |
E323G |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,539 (GRCm39) |
N51S |
probably benign |
Het |
| Prkcg |
A |
T |
7: 3,363,517 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
C |
A |
5: 99,120,989 (GRCm39) |
D411Y |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,004,566 (GRCm39) |
V63A |
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,600,476 (GRCm39) |
D10V |
probably benign |
Het |
| Rrm2b |
A |
G |
15: 37,953,932 (GRCm39) |
S39P |
possibly damaging |
Het |
| Scn5a |
A |
G |
9: 119,321,113 (GRCm39) |
|
probably null |
Het |
| Spata24 |
A |
G |
18: 35,789,887 (GRCm39) |
S167P |
probably damaging |
Het |
| Spock3 |
C |
T |
8: 63,597,041 (GRCm39) |
T115I |
possibly damaging |
Het |
| Tnfaip3 |
C |
A |
10: 18,887,374 (GRCm39) |
M50I |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,303,911 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,164,369 (GRCm39) |
|
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,754,286 (GRCm39) |
W93* |
probably null |
Het |
|
| Other mutations in Plppr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Plppr5
|
APN |
3 |
117,465,592 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01081:Plppr5
|
APN |
3 |
117,480,298 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01315:Plppr5
|
APN |
3 |
117,456,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:Plppr5
|
UTSW |
3 |
117,456,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Plppr5
|
UTSW |
3 |
117,465,538 (GRCm39) |
splice site |
probably null |
|
|
R0332:Plppr5
|
UTSW |
3 |
117,465,581 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0757:Plppr5
|
UTSW |
3 |
117,369,540 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1101:Plppr5
|
UTSW |
3 |
117,456,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1354:Plppr5
|
UTSW |
3 |
117,369,496 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1498:Plppr5
|
UTSW |
3 |
117,456,261 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1967:Plppr5
|
UTSW |
3 |
117,419,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2090:Plppr5
|
UTSW |
3 |
117,369,520 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4661:Plppr5
|
UTSW |
3 |
117,414,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5143:Plppr5
|
UTSW |
3 |
117,419,552 (GRCm39) |
missense |
probably benign |
|
|
R5441:Plppr5
|
UTSW |
3 |
117,456,120 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5722:Plppr5
|
UTSW |
3 |
117,414,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6560:Plppr5
|
UTSW |
3 |
117,465,639 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7221:Plppr5
|
UTSW |
3 |
117,414,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Plppr5
|
UTSW |
3 |
117,465,679 (GRCm39) |
missense |
probably benign |
|
|
R8925:Plppr5
|
UTSW |
3 |
117,369,532 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8927:Plppr5
|
UTSW |
3 |
117,369,532 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9015:Plppr5
|
UTSW |
3 |
117,456,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Plppr5
|
UTSW |
3 |
117,419,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-21 |
Incidental Mutation