Incidental Mutation 'IGL00391:Plppr5'
| ID |
6766 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plppr5
|
| Ensembl Gene |
ENSMUSG00000033342 |
| Gene Name |
phospholipid phosphatase related 5 |
| Synonyms |
Lppr5, 4833424O15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL00391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
117368274-117483157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117465592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 281
(N281I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039564]
[ENSMUST00000106473]
|
| AlphaFold |
Q8BJ52 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039564
AA Change: N281I
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000045121
Gene: ENSMUSG00000033342
AA Change: N281I
| 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 |
possibly damaging
Transcript: ENSMUST00000106473
AA Change: N281I
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102081
Gene: ENSMUSG00000033342
AA Change: N281I
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,666 (GRCm39) |
F519L |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,872,071 (GRCm39) |
V990M |
probably damaging |
Het |
| Ap4b1 |
A |
G |
3: 103,728,858 (GRCm39) |
T499A |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,314,894 (GRCm39) |
|
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,443 (GRCm39) |
D15E |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,621,322 (GRCm39) |
V584A |
possibly damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,893,236 (GRCm39) |
M85T |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,977 (GRCm39) |
H104L |
probably damaging |
Het |
| Coq9 |
A |
T |
8: 95,577,145 (GRCm39) |
K170M |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,831,682 (GRCm39) |
|
probably null |
Het |
| Fam47e |
A |
C |
5: 92,727,522 (GRCm39) |
E143D |
probably damaging |
Het |
| Faxc |
A |
G |
4: 21,948,725 (GRCm39) |
K146E |
probably damaging |
Het |
| Myo7b |
A |
C |
18: 32,154,609 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,193 (GRCm39) |
R381C |
probably damaging |
Het |
| Nsd2 |
T |
G |
5: 34,013,077 (GRCm39) |
D469E |
probably damaging |
Het |
| Osbpl6 |
G |
A |
2: 76,420,783 (GRCm39) |
C786Y |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,006,439 (GRCm39) |
Y85C |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,532,967 (GRCm39) |
C1587R |
probably damaging |
Het |
| Plaat5 |
A |
T |
19: 7,596,631 (GRCm39) |
|
probably benign |
Het |
| Plekha2 |
A |
G |
8: 25,547,343 (GRCm39) |
V247A |
probably damaging |
Het |
| Popdc3 |
A |
G |
10: 45,193,922 (GRCm39) |
|
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,709 (GRCm39) |
N85D |
probably damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,534,714 (GRCm39) |
S262G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,474,320 (GRCm39) |
G4780R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,648,258 (GRCm39) |
E4621G |
probably damaging |
Het |
|
| Other mutations in Plppr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-04-20 |
Incidental Mutation