Incidental Mutation 'R0376:Plppr4'
| ID |
30737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plppr4
|
| Ensembl Gene |
ENSMUSG00000044667 |
| Gene Name |
phospholipid phosphatase related 4 |
| Synonyms |
D3Bwg0562e, PRG-1, Lppr4 |
| MMRRC Submission |
038582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0376 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
117112794-117154525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 117116740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 314
(H314Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061071]
[ENSMUST00000197743]
|
| AlphaFold |
Q7TME0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061071
AA Change: H372Q
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: H372Q
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
180 |
324 |
4.07e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197743
AA Change: H314Q
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667
AA Change: H314Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d2ta_
|
59 |
268 |
1e-7 |
SMART |
|
Blast:acidPPc
|
180 |
265 |
8e-53 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, seizures, hyperexcitability of evoked fEPSP, and premature lethality around 3 weeks of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
C |
12: 113,508,310 (GRCm39) |
Y228H |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,254,724 (GRCm39) |
F211S |
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,360,004 (GRCm39) |
Q11L |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,514,637 (GRCm39) |
R115G |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,177,453 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,873,528 (GRCm39) |
D782E |
probably damaging |
Het |
| Bcr |
G |
T |
10: 74,981,159 (GRCm39) |
L659F |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,549,015 (GRCm39) |
|
probably benign |
Het |
| Camp |
C |
T |
9: 109,677,467 (GRCm39) |
C122Y |
probably damaging |
Het |
| Cimip1 |
G |
A |
2: 173,370,120 (GRCm39) |
E132K |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,600,776 (GRCm39) |
S769R |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,414,260 (GRCm39) |
K335I |
probably damaging |
Het |
| Cyp3a11 |
A |
C |
5: 145,799,262 (GRCm39) |
Y308* |
probably null |
Het |
| Flnb |
G |
A |
14: 7,946,014 (GRCm38) |
|
probably null |
Het |
| Frmd4a |
G |
T |
2: 4,577,198 (GRCm39) |
M351I |
probably damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,807,142 (GRCm39) |
S365N |
possibly damaging |
Het |
| Ggn |
T |
C |
7: 28,872,447 (GRCm39) |
V609A |
possibly damaging |
Het |
| H60c |
T |
C |
10: 3,210,435 (GRCm39) |
|
probably benign |
Het |
| Hexd |
T |
A |
11: 121,108,991 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,245,878 (GRCm39) |
T1282A |
probably benign |
Het |
| Ikzf4 |
T |
C |
10: 128,468,625 (GRCm39) |
N618S |
probably benign |
Het |
| Ints14 |
A |
G |
9: 64,891,272 (GRCm39) |
K418E |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,373,627 (GRCm39) |
E1454G |
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,994,853 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
A |
C |
15: 101,646,505 (GRCm39) |
F328C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 26,891,542 (GRCm39) |
T2524A |
possibly damaging |
Het |
| Mfn2 |
C |
T |
4: 147,969,983 (GRCm39) |
V363I |
probably benign |
Het |
| Mkln1 |
A |
T |
6: 31,454,953 (GRCm39) |
D496V |
probably benign |
Het |
| Or2q1 |
A |
T |
6: 42,795,226 (GRCm39) |
M274L |
probably benign |
Het |
| Patj |
T |
A |
4: 98,457,224 (GRCm39) |
I1242N |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,547,721 (GRCm39) |
E502G |
probably damaging |
Het |
| Prkcsh |
A |
G |
9: 21,921,547 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
C |
T |
7: 127,075,815 (GRCm39) |
H181Y |
probably benign |
Het |
| Pus3 |
A |
T |
9: 35,477,718 (GRCm39) |
M317L |
possibly damaging |
Het |
| Pwwp2a |
T |
A |
11: 43,595,499 (GRCm39) |
D221E |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,254 (GRCm39) |
S715G |
probably benign |
Het |
| Rbm28 |
A |
G |
6: 29,158,927 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
A |
T |
14: 70,034,184 (GRCm39) |
V347E |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
| Scgb1b27 |
C |
T |
7: 33,721,322 (GRCm39) |
T70I |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,951,651 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spaca9 |
A |
G |
2: 28,583,672 (GRCm39) |
V104A |
probably benign |
Het |
| Spag7 |
T |
C |
11: 70,560,016 (GRCm39) |
|
probably benign |
Het |
| Sugp1 |
A |
G |
8: 70,505,288 (GRCm39) |
D85G |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,212,454 (GRCm39) |
|
probably benign |
Het |
| Tcp11l1 |
C |
A |
2: 104,527,850 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
A |
C |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,144,294 (GRCm39) |
V636E |
possibly damaging |
Het |
| Tldc2 |
T |
C |
2: 156,937,225 (GRCm39) |
W147R |
probably damaging |
Het |
| Tmem161b |
A |
G |
13: 84,440,502 (GRCm39) |
T125A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,753,149 (GRCm39) |
M1825V |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,608,062 (GRCm39) |
F186L |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Zc3h7a |
T |
C |
16: 10,974,066 (GRCm39) |
M240V |
probably benign |
Het |
| Zc3hc1 |
G |
C |
6: 30,372,789 (GRCm39) |
S351W |
probably damaging |
Het |
| Zfp366 |
T |
C |
13: 99,370,759 (GRCm39) |
M493T |
probably benign |
Het |
| Zfp93 |
C |
T |
7: 23,975,286 (GRCm39) |
P424S |
probably damaging |
Het |
|
| Other mutations in Plppr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Plppr4
|
APN |
3 |
117,115,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01969:Plppr4
|
APN |
3 |
117,122,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02014:Plppr4
|
APN |
3 |
117,129,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02068:Plppr4
|
APN |
3 |
117,125,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL02426:Plppr4
|
APN |
3 |
117,115,944 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03203:Plppr4
|
APN |
3 |
117,119,540 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4445001:Plppr4
|
UTSW |
3 |
117,153,957 (GRCm39) |
unclassified |
probably benign |
|
|
R0755:Plppr4
|
UTSW |
3 |
117,116,319 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0831:Plppr4
|
UTSW |
3 |
117,125,295 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1518:Plppr4
|
UTSW |
3 |
117,129,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Plppr4
|
UTSW |
3 |
117,116,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Plppr4
|
UTSW |
3 |
117,121,915 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1628:Plppr4
|
UTSW |
3 |
117,121,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Plppr4
|
UTSW |
3 |
117,125,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2511:Plppr4
|
UTSW |
3 |
117,125,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4332:Plppr4
|
UTSW |
3 |
117,116,474 (GRCm39) |
missense |
probably benign |
|
|
R4380:Plppr4
|
UTSW |
3 |
117,116,046 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4787:Plppr4
|
UTSW |
3 |
117,115,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4829:Plppr4
|
UTSW |
3 |
117,129,240 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5511:Plppr4
|
UTSW |
3 |
117,119,551 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5819:Plppr4
|
UTSW |
3 |
117,119,513 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6149:Plppr4
|
UTSW |
3 |
117,116,043 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6257:Plppr4
|
UTSW |
3 |
117,116,228 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6974:Plppr4
|
UTSW |
3 |
117,116,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Plppr4
|
UTSW |
3 |
117,153,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Plppr4
|
UTSW |
3 |
117,116,832 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7507:Plppr4
|
UTSW |
3 |
117,115,754 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7820:Plppr4
|
UTSW |
3 |
117,115,598 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8179:Plppr4
|
UTSW |
3 |
117,125,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Plppr4
|
UTSW |
3 |
117,116,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Plppr4
|
UTSW |
3 |
117,129,060 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8531:Plppr4
|
UTSW |
3 |
117,115,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Plppr4
|
UTSW |
3 |
117,119,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Plppr4
|
UTSW |
3 |
117,116,190 (GRCm39) |
nonsense |
probably null |
|
|
R8933:Plppr4
|
UTSW |
3 |
117,116,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9251:Plppr4
|
UTSW |
3 |
117,115,608 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9311:Plppr4
|
UTSW |
3 |
117,119,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9385:Plppr4
|
UTSW |
3 |
117,116,377 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9474:Plppr4
|
UTSW |
3 |
117,116,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Plppr4
|
UTSW |
3 |
117,115,610 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9709:Plppr4
|
UTSW |
3 |
117,121,976 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1176:Plppr4
|
UTSW |
3 |
117,116,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATGGATGCTCGCATTTCTTC -3'
(R):5'- AGTGCCTACCTCAGTTGTGTGCTC -3'
Sequencing Primer
(F):5'- CTCACTGGGTCTTCCACGG -3'
(R):5'- AGAACCGTGATTGCTTGTTCC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation