Mutagenetix > Incidental Mutation

Incidental Mutation 'R6149:Plppr4'

489058

Institutional Source

Beutler Lab

Gene Symbol

Plppr4

Ensembl Gene

ENSMUSG00000044667

Gene Name

phospholipid phosphatase related 4

Synonyms

D3Bwg0562e, PRG-1, Lppr4

MMRRC Submission

044296-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117112794-117154525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117116043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 605 (C605S)

Ref Sequence

ENSEMBL: ENSMUSP00000052306 (fasta)

Gene Model

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

AlphaFold

Q7TME0

Predicted Effect

probably benign
Transcript: ENSMUST00000061071
AA Change: C605S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: C605S

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: C547S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667
AA Change: C547S

Domain	Start	End	E-Value	Type
SCOP:d1d2ta_	59	268	1e-7	SMART
Blast:acidPPc	180	265	8e-53	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

99% (69/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,777,211 (GRCm39)	R115S	probably benign	Het
Adgre1	A	G	17: 57,752,018 (GRCm39)	K589E	probably benign	Het
Adgrv1	A	T	13: 81,330,893 (GRCm39)	L74Q	probably damaging	Het
Avil	A	G	10: 126,842,451 (GRCm39)	I77V	probably benign	Het
Best2	T	C	8: 85,739,896 (GRCm39)	E57G	probably benign	Het
Cacna1a	T	C	8: 85,296,581 (GRCm39)	C1200R	probably damaging	Het
Catsperb	T	A	12: 101,516,098 (GRCm39)	I578K	probably damaging	Het
Chsy1	A	G	7: 65,775,133 (GRCm39)	Y154C	probably damaging	Het
Chuk	A	G	19: 44,090,270 (GRCm39)	V74A	probably damaging	Het
Ckb	T	C	12: 111,638,248 (GRCm39)	S49G	probably damaging	Het
Crtac1	A	G	19: 42,272,048 (GRCm39)	Y632H	unknown	Het
Ern1	C	A	11: 106,296,641 (GRCm39)	E770*	probably null	Het
Fam114a2	A	C	11: 57,378,415 (GRCm39)	V450G	probably benign	Het
Fgf15	C	T	7: 144,453,506 (GRCm39)	Q125*	probably null	Het
Frem2	A	T	3: 53,458,762 (GRCm39)	S2036T	probably damaging	Het
Fxr2	G	A	11: 69,540,030 (GRCm39)	V296I	probably benign	Het
Gm15264	C	A	3: 94,640,736 (GRCm39)		noncoding transcript	Het
Ifi213	A	T	1: 173,421,581 (GRCm39)	S103T	probably benign	Het
Igkv5-37	T	A	6: 69,940,472 (GRCm39)	Q57H	probably damaging	Het
Il1rap	A	G	16: 26,530,969 (GRCm39)	Y435C	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Lcor	T	A	19: 41,573,641 (GRCm39)	W799R	probably damaging	Het
Lnp1	C	T	16: 56,737,735 (GRCm39)	E118K	probably benign	Het
Lrif1	A	C	3: 106,639,643 (GRCm39)	K243Q	possibly damaging	Het
Lrp1b	G	T	2: 40,765,165 (GRCm39)		probably null	Het
Lvrn	G	A	18: 47,017,499 (GRCm39)	V610I	probably benign	Het
Med1	T	C	11: 98,074,679 (GRCm39)	K67R	possibly damaging	Het
Midn	T	C	10: 79,990,291 (GRCm39)	S278P	probably damaging	Het
Nrap	A	G	19: 56,377,885 (GRCm39)	V35A	possibly damaging	Het
Nynrin	A	T	14: 56,091,780 (GRCm39)	Q32L	possibly damaging	Het
Oog1	C	T	12: 87,653,043 (GRCm39)	T113I	possibly damaging	Het
Or10ak7	A	G	4: 118,791,628 (GRCm39)	L139P	probably damaging	Het
Or10j3	G	T	1: 173,031,582 (GRCm39)	V220F	probably benign	Het
Or4x11	C	T	2: 89,867,860 (GRCm39)	A199V	probably benign	Het
Or5b21	A	T	19: 12,839,723 (GRCm39)	I195F	probably benign	Het
Or6a2	T	C	7: 106,600,807 (GRCm39)	I87V	probably benign	Het
Otogl	C	T	10: 107,717,314 (GRCm39)	V386I	probably benign	Het
Patj	A	G	4: 98,312,562 (GRCm39)	N300S	possibly damaging	Het
Pcdhb16	T	A	18: 37,612,208 (GRCm39)	D389E	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,939 (GRCm39)	I699V	probably benign	Het
Pfas	A	G	11: 68,882,771 (GRCm39)	V790A	probably benign	Het
Ppl	G	A	16: 4,925,460 (GRCm39)	Q60*	probably null	Het
Ppp1r1c	A	G	2: 79,586,810 (GRCm39)	K52R	possibly damaging	Het
Pramel29	A	G	4: 143,933,983 (GRCm39)	S375P	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Rpe65	G	A	3: 159,319,780 (GRCm39)	E217K	probably benign	Het
Rufy4	T	C	1: 74,186,892 (GRCm39)	I560T	probably benign	Het
Ryr2	T	C	13: 11,683,903 (GRCm39)	S3054G	probably benign	Het
Serpinb6a	A	T	13: 34,102,343 (GRCm39)	L273H	probably damaging	Het
Sf3b1	A	T	1: 55,046,666 (GRCm39)	W293R	probably damaging	Het
Sik1	A	T	17: 32,067,771 (GRCm39)	S435T	possibly damaging	Het
Slc2a12	G	T	10: 22,540,401 (GRCm39)	M85I	probably benign	Het
Stk36	T	C	1: 74,673,388 (GRCm39)	S1094P	probably benign	Het
Tctn1	A	T	5: 122,384,649 (GRCm39)	Y393N	probably benign	Het
Tex9	C	T	9: 72,369,282 (GRCm39)		probably null	Het
Thbs2	A	G	17: 14,899,942 (GRCm39)		probably null	Het
Tmprss7	A	T	16: 45,494,268 (GRCm39)	C412*	probably null	Het
Tpp1	T	C	7: 105,396,934 (GRCm39)	T399A	probably benign	Het
Trim25	T	A	11: 88,906,362 (GRCm39)	V387D	probably benign	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vill	T	G	9: 118,887,482 (GRCm39)	V82G	possibly damaging	Het
Vmn1r189	T	C	13: 22,286,054 (GRCm39)	D261G	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r111	G	A	17: 22,767,796 (GRCm39)	T567I	probably benign	Het
Vmn2r60	A	G	7: 41,786,400 (GRCm39)	Y401C	probably damaging	Het
Zc3h11a	G	A	1: 133,566,613 (GRCm39)	R69*	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
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'- GGTTTGGCGCAGACTACTTTTC -3'
(R):5'- TGGCTCTTCCCAATTGGTGC -3'

Sequencing Primer
(F):5'- GCAGACTACTTTTCTCCGGAG -3'
(R):5'- AATTGGTGCACATCCCCGAG -3'

Posted On

2017-10-10