Incidental Mutation 'R1354:Plppr5'
| ID |
156237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plppr5
|
| Ensembl Gene |
ENSMUSG00000033342 |
| Gene Name |
phospholipid phosphatase related 5 |
| Synonyms |
Lppr5, 4833424O15Rik |
| MMRRC Submission |
039419-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R1354 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
117368274-117483157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 117369496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 51
(R51H)
|
| 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: R51H
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045121
Gene: ENSMUSG00000033342
AA Change: R51H
| 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: R51H
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102081
Gene: ENSMUSG00000033342
AA Change: R51H
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.3%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atoh1 |
A |
G |
6: 64,706,341 (GRCm39) |
E12G |
possibly damaging |
Het |
| Ccdc183 |
T |
C |
2: 25,502,151 (GRCm39) |
N241S |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,228,566 (GRCm39) |
T2174I |
possibly damaging |
Het |
| Edem1 |
A |
G |
6: 108,831,277 (GRCm39) |
I579M |
possibly damaging |
Het |
| Gimap9 |
A |
T |
6: 48,654,982 (GRCm39) |
M190L |
probably benign |
Het |
| Glod4 |
A |
T |
11: 76,128,654 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Lef1 |
C |
T |
3: 130,988,317 (GRCm39) |
P267S |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,560,459 (GRCm39) |
E335G |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,361,114 (GRCm39) |
N1475S |
probably damaging |
Het |
| Ndst2 |
C |
A |
14: 20,775,043 (GRCm39) |
R749L |
possibly damaging |
Het |
| Oas3 |
C |
A |
5: 120,908,065 (GRCm39) |
V292L |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,210,807 (GRCm39) |
I210F |
possibly damaging |
Het |
| Ppp1r12b |
G |
A |
1: 134,763,721 (GRCm39) |
T771M |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,165,174 (GRCm39) |
P331S |
probably damaging |
Het |
| Rtl6 |
C |
T |
15: 84,440,728 (GRCm39) |
V223M |
probably damaging |
Het |
| Tbc1d9 |
A |
C |
8: 83,995,610 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
T |
C |
2: 129,883,818 (GRCm39) |
I492T |
probably benign |
Het |
| Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
| Wdr45b |
A |
T |
11: 121,226,256 (GRCm39) |
I191N |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCTCCAGCTATACAACATCCG -3'
(R):5'- GGACTGCCACCAAGTTAGAGGAAC -3'
Sequencing Primer
(F):5'- Tcctccgcctctgcctc -3'
(R):5'- CCACCAAGTTAGAGGAACTTAGATG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation