Mutagenetix > Incidental Mutation

Incidental Mutation 'R9311:Plppr4'

705540

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) question?

Stock #

R9311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117112794-117154525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 117119518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 297 (T297K)

Ref Sequence

ENSEMBL: ENSMUSP00000052306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061071] [ENSMUST00000197743]

AlphaFold

Q7TME0

Predicted Effect

probably damaging
Transcript: ENSMUST00000061071
AA Change: T297K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: T297K

Domain	Start	End	E-Value	Type
acidPPc	180	324	4.07e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197743

SMART Domains

Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,495,816 (GRCm39)	I84T	possibly damaging	Het
Adad2	G	T	8: 120,341,986 (GRCm39)	R268L	probably damaging	Het
Agxt2	A	T	15: 10,380,733 (GRCm39)	N208I	probably damaging	Het
Brsk1	G	T	7: 4,709,722 (GRCm39)		probably null	Het
Cd40	A	T	2: 164,912,667 (GRCm39)	Q235L	possibly damaging	Het
Cdcp3	A	T	7: 130,859,490 (GRCm39)	D1137V	unknown	Het
Cln6	T	C	9: 62,757,900 (GRCm39)	Y220H	probably damaging	Het
Cngb1	A	T	8: 96,010,794 (GRCm39)		probably null	Het
Cpne1	A	T	2: 155,919,723 (GRCm39)	V277E	probably damaging	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cyp4f15	A	G	17: 32,905,139 (GRCm39)	T41A	probably benign	Het
Dab1	T	C	4: 104,369,463 (GRCm39)		probably null	Het
Eif4e1b	C	A	13: 54,932,332 (GRCm39)	H56N	probably benign	Het
Elp3	A	T	14: 65,823,788 (GRCm39)	D78E	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Gabarap	T	A	11: 69,882,549 (GRCm39)	V4E	probably benign	Het
Gm5105	T	A	3: 137,755,418 (GRCm39)	D56V	unknown	Het
Gosr2	G	T	11: 103,574,693 (GRCm39)	H134Q	probably damaging	Het
Ifi204	A	G	1: 173,589,215 (GRCm39)	V72A	possibly damaging	Het
Irx1	A	G	13: 72,107,416 (GRCm39)	V422A	probably benign	Het
Kcne4	C	A	1: 78,795,824 (GRCm39)	D157E	probably benign	Het
Kctd13	A	G	7: 126,541,345 (GRCm39)	N195S	probably damaging	Het
Kirrel1	A	G	3: 87,005,123 (GRCm39)	V75A	probably benign	Het
Klkb1	T	C	8: 45,722,983 (GRCm39)	T625A	probably benign	Het
Lama5	A	G	2: 179,838,275 (GRCm39)		probably null	Het
Lifr	A	G	15: 7,208,418 (GRCm39)	I599V	possibly damaging	Het
Lin52	A	T	12: 84,576,470 (GRCm39)	E101V	probably damaging	Het
Liph	T	C	16: 21,802,680 (GRCm39)	I130V	probably benign	Het
Liph	C	T	16: 21,774,913 (GRCm39)	R428Q	probably damaging	Het
Lrrc4c	A	C	2: 97,461,080 (GRCm39)	I569L	possibly damaging	Het
Mnat1	G	A	12: 73,214,916 (GRCm39)	V78I	probably benign	Het
Msln	C	T	17: 25,971,990 (GRCm39)	D76N	probably benign	Het
Myh7b	A	G	2: 155,463,253 (GRCm39)	H495R	probably damaging	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nfu1	T	C	6: 86,986,926 (GRCm39)	V15A	probably benign	Het
Nphp4	T	C	4: 152,608,714 (GRCm39)	S441P	probably damaging	Het
Nuak1	T	C	10: 84,214,090 (GRCm39)		probably null	Het
Or1j20	A	T	2: 36,760,405 (GRCm39)	I276F	probably damaging	Het
Or5h27	A	T	16: 59,006,106 (GRCm39)	C247S	unknown	Het
Or5w22	A	G	2: 87,362,358 (GRCm39)		probably benign	Het
Or8b3b	A	G	9: 38,583,925 (GRCm39)	S272P	probably damaging	Het
Palld	A	G	8: 61,978,189 (GRCm39)	V1109A	unknown	Het
Pik3c3	G	A	18: 30,445,666 (GRCm39)	R551H	probably benign	Het
Plcb1	G	A	2: 135,189,385 (GRCm39)	V838I	probably benign	Het
Ptprd	A	G	4: 76,051,320 (GRCm39)	I67T	probably benign	Het
Rb1cc1	T	A	1: 6,310,539 (GRCm39)	N312K	probably damaging	Het
Sh3glb1	A	C	3: 144,397,659 (GRCm39)		probably null	Het
Siglec1	C	T	2: 130,916,013 (GRCm39)	C1283Y	probably damaging	Het
Spns1	T	C	7: 125,972,995 (GRCm39)	I204V	probably damaging	Het
Sprr5	T	G	3: 92,440,397 (GRCm39)	Q14P	unknown	Het
Supt6	T	C	11: 78,116,284 (GRCm39)	Y693C	probably damaging	Het
Taar9	A	G	10: 23,985,152 (GRCm39)	V94A	probably damaging	Het
Tchp	T	C	5: 114,846,877 (GRCm39)	S55P	probably benign	Het
Tmem132b	A	G	5: 125,863,029 (GRCm39)	H678R	possibly damaging	Het
Tnr	G	C	1: 159,677,663 (GRCm39)	G16A	probably benign	Het
Top3b	T	C	16: 16,700,563 (GRCm39)		probably null	Het
Tpmt	A	G	13: 47,185,892 (GRCm39)		probably null	Het
Treh	G	A	9: 44,592,655 (GRCm39)	V87I	probably benign	Het
Ttc4	T	C	4: 106,535,963 (GRCm39)	D33G	probably benign	Het
Usp47	A	G	7: 111,703,257 (GRCm39)	D1171G	probably benign	Het
Vmn2r61	G	T	7: 41,950,092 (GRCm39)	L837F	possibly damaging	Het
Vmn2r86	T	A	10: 130,288,440 (GRCm39)	N354Y	probably damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Zscan4b	C	A	7: 10,635,950 (GRCm39)	V126F	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
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
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
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'- GCATAGAATGAAGATGCCTCCTATG -3'
(R):5'- CCTGCAATTACACGAGAGCC -3'

Sequencing Primer
(F):5'- TGAAGATGCCTCCTATGATTTTTC -3'
(R):5'- GAGAGCCCCGCTGTTCATTTTG -3'

Posted On

2022-03-25