Incidental Mutation 'R7045:Plppr4'
| ID |
547241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plppr4
|
| Ensembl Gene |
ENSMUSG00000044667 |
| Gene Name |
phospholipid phosphatase related 4 |
| Synonyms |
D3Bwg0562e, PRG-1, Lppr4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7045 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
117112794-117154525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117153683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 72
(Y72C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061071]
[ENSMUST00000197743]
|
| AlphaFold |
Q7TME0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061071
AA Change: Y72C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: Y72C
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
180 |
324 |
4.07e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197743
AA Change: Y72C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667
AA Change: Y72C
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d2ta_
|
59 |
268 |
1e-7 |
SMART |
|
Blast:acidPPc
|
180 |
265 |
8e-53 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1 |
A |
T |
12: 112,628,735 (GRCm39) |
Y18* |
probably null |
Het |
| Ank2 |
C |
A |
3: 126,806,393 (GRCm39) |
A583S |
probably damaging |
Het |
| Aoc1l3 |
T |
C |
6: 48,965,546 (GRCm39) |
V518A |
possibly damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,214,115 (GRCm39) |
N706S |
probably benign |
Het |
| Bace2 |
A |
G |
16: 97,200,865 (GRCm39) |
N111S |
probably damaging |
Het |
| Cnp |
A |
T |
11: 100,471,184 (GRCm39) |
R275S |
probably benign |
Het |
| Cs |
T |
A |
10: 128,188,586 (GRCm39) |
M104K |
probably benign |
Het |
| Ctcfl |
G |
A |
2: 172,954,167 (GRCm39) |
T310I |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,763 (GRCm39) |
I81V |
probably benign |
Het |
| Ddx19a |
A |
G |
8: 111,719,706 (GRCm39) |
V30A |
probably benign |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dock6 |
G |
A |
9: 21,733,107 (GRCm39) |
A1062V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,067,395 (GRCm39) |
D172G |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,935,504 (GRCm39) |
D638G |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,103,522 (GRCm39) |
A105S |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,942,750 (GRCm39) |
I548V |
probably benign |
Het |
| Gabrb2 |
G |
A |
11: 42,484,758 (GRCm39) |
A272T |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,794,707 (GRCm39) |
L287P |
probably damaging |
Het |
| Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,122,349 (GRCm39) |
G477C |
probably damaging |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Kiss1r |
A |
G |
10: 79,755,259 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
| Loxl4 |
G |
T |
19: 42,595,074 (GRCm39) |
N200K |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,192,398 (GRCm39) |
V104A |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,809,485 (GRCm39) |
V385D |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,293 (GRCm39) |
C902S |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,345,261 (GRCm39) |
F227S |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,448,896 (GRCm39) |
V289E |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,465,732 (GRCm39) |
V80A |
probably damaging |
Het |
| Nid2 |
C |
T |
14: 19,829,749 (GRCm39) |
A680V |
possibly damaging |
Het |
| Nudcd1 |
T |
C |
15: 44,269,226 (GRCm39) |
N145D |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,031,433 (GRCm39) |
I812N |
probably damaging |
Het |
| Or2ak6 |
A |
T |
11: 58,592,495 (GRCm39) |
|
probably benign |
Het |
| Or2g7 |
C |
T |
17: 38,378,862 (GRCm39) |
H267Y |
probably benign |
Het |
| Or2y17 |
A |
T |
11: 49,231,757 (GRCm39) |
T133S |
probably damaging |
Het |
| Or52n4b |
A |
G |
7: 108,144,452 (GRCm39) |
K238R |
probably damaging |
Het |
| Or5b114-ps1 |
C |
A |
19: 13,352,336 (GRCm39) |
N3K |
probably damaging |
Het |
| Or8c11 |
T |
A |
9: 38,289,729 (GRCm39) |
M184K |
probably damaging |
Het |
| Or8k16 |
A |
G |
2: 85,520,255 (GRCm39) |
S161G |
possibly damaging |
Het |
| Pcdhb6 |
A |
C |
18: 37,469,329 (GRCm39) |
Q750P |
possibly damaging |
Het |
| Rasgrf2 |
G |
T |
13: 92,159,100 (GRCm39) |
|
probably benign |
Het |
| Sbk2 |
A |
G |
7: 4,961,905 (GRCm39) |
I127T |
probably damaging |
Het |
| Smchd1 |
A |
C |
17: 71,722,039 (GRCm39) |
S817A |
probably benign |
Het |
| Speer4b |
A |
T |
5: 27,705,123 (GRCm39) |
N83K |
probably damaging |
Het |
| Strc |
A |
T |
2: 121,201,207 (GRCm39) |
L1296Q |
probably damaging |
Het |
| Thap11 |
C |
A |
8: 106,582,215 (GRCm39) |
R75S |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,111,407 (GRCm39) |
L268R |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,781,269 (GRCm39) |
C498S |
unknown |
Het |
| Zfp507 |
T |
C |
7: 35,494,978 (GRCm39) |
T22A |
possibly damaging |
Het |
| Zfp85 |
T |
C |
13: 67,897,712 (GRCm39) |
Y120C |
probably benign |
Het |
| Zfp882 |
G |
A |
8: 72,667,093 (GRCm39) |
|
probably null |
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 |
|
|
R0376:Plppr4
|
UTSW |
3 |
117,116,740 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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'- AAGCCGCCCCTAGTGATAAC -3'
(R):5'- TTGGAGAGGGAGCTGCTATC -3'
Sequencing Primer
(F):5'- TGTCCACAGGCAGACTCAG -3'
(R):5'- CCAGGCTGAAGAAGACCTGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation