Mutagenetix > Incidental Mutation

Incidental Mutation 'R6257:Plppr4'

506377

Institutional Source

Beutler Lab

Gene Symbol

Plppr4

Ensembl Gene

ENSMUSG00000044667

Gene Name

phospholipid phosphatase related 4

Synonyms

D3Bwg0562e, PRG-1, Lppr4

MMRRC Submission

044374-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117112794-117154525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117116228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 485 (Q485R)

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: Q543R

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: Q543R

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

possibly damaging
Transcript: ENSMUST00000197743
AA Change: Q485R

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667
AA Change: Q485R

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: 96.4%

Validation Efficiency

97% (74/76)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,272,074 (GRCm39)	N313K	probably benign	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Adamts6	A	T	13: 104,598,790 (GRCm39)	Q877L	probably benign	Het
Adgre4	C	T	17: 56,109,133 (GRCm39)	T380I	possibly damaging	Het
Aspm	A	G	1: 139,409,791 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,102 (GRCm39)		probably null	Het
Bcl6b	C	T	11: 70,116,878 (GRCm39)	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,258,580 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,641,364 (GRCm39)	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Ccser1	A	G	6: 61,350,946 (GRCm39)	D501G	probably damaging	Het
Ccser1	A	G	6: 62,356,769 (GRCm39)	T736A	probably benign	Het
Cd164l2	T	A	4: 132,948,345 (GRCm39)	C19S	unknown	Het
Cdk15	G	A	1: 59,296,264 (GRCm39)		probably null	Het
Cebpz	T	C	17: 79,243,261 (GRCm39)	E131G	probably benign	Het
Ces1d	T	C	8: 93,893,025 (GRCm39)	D519G	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Chd1	T	G	17: 15,950,465 (GRCm39)		probably null	Het
Chil4	T	A	3: 106,111,412 (GRCm39)	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,300,080 (GRCm39)	S173T	probably damaging	Het
Cpd	A	T	11: 76,703,496 (GRCm39)	F456I	probably benign	Het
Cst8	C	A	2: 148,647,365 (GRCm39)	A125E	probably damaging	Het
Dars2	G	T	1: 160,869,398 (GRCm39)	P617Q	probably damaging	Het
Defb26	A	G	2: 152,349,860 (GRCm39)	V140A	unknown	Het
Dntt	T	G	19: 41,041,501 (GRCm39)	V395G	probably damaging	Het
Dock10	G	A	1: 80,481,413 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,474,914 (GRCm39)	N1216S	possibly damaging	Het
En1	A	T	1: 120,531,636 (GRCm39)	D292V	unknown	Het
Erbb4	A	T	1: 68,435,432 (GRCm39)	L155Q	probably damaging	Het
Erbin	T	C	13: 103,998,796 (GRCm39)	T197A	probably benign	Het
Fat2	A	G	11: 55,153,407 (GRCm39)	F3602L	probably benign	Het
Fcsk	A	T	8: 111,617,177 (GRCm39)	C365S	probably benign	Het
Gm3443	A	T	19: 21,533,075 (GRCm39)	D13V	unknown	Het
Gm6401	T	C	14: 41,789,828 (GRCm39)	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,677,623 (GRCm39)	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H2-T24	T	A	17: 36,325,574 (GRCm39)	T305S	probably benign	Het
Ksr2	A	T	5: 117,552,909 (GRCm39)	M6L	probably benign	Het
Lama2	A	G	10: 26,862,895 (GRCm39)	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,951,557 (GRCm39)	T123A	probably benign	Het
Lrp1b	T	A	2: 40,486,981 (GRCm39)		probably null	Het
Ltn1	G	A	16: 87,208,662 (GRCm39)	A812V	possibly damaging	Het
Maml2	C	T	9: 13,531,722 (GRCm39)	S312L	probably damaging	Het
Myo7b	T	A	18: 32,146,468 (GRCm39)	N106Y	probably damaging	Het
Nacc2	A	T	2: 25,950,420 (GRCm39)	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,570,173 (GRCm39)	I224T	probably damaging	Het
Nf1	A	T	11: 79,440,317 (GRCm39)	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,784,349 (GRCm39)		probably null	Het
Nup155	C	T	15: 8,180,282 (GRCm39)	R1120*	probably null	Het
Oas3	C	A	5: 120,899,200 (GRCm39)		probably benign	Het
Ocln	T	C	13: 100,676,017 (GRCm39)	I159V	probably benign	Het
Or1p1c	T	C	11: 74,160,833 (GRCm39)	V206A	probably damaging	Het
Or2t45	T	A	11: 58,669,829 (GRCm39)	V292E	probably damaging	Het
Os9	A	C	10: 126,955,006 (GRCm39)	C181G	probably damaging	Het
Phldb1	C	T	9: 44,607,437 (GRCm39)	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,892,195 (GRCm39)	T208I	probably benign	Het
Prkcb	T	A	7: 122,167,386 (GRCm39)	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,639 (GRCm39)	N45K	probably damaging	Het
Rbl2	T	C	8: 91,842,306 (GRCm39)	L987P	probably damaging	Het
Runx1	T	A	16: 92,492,799 (GRCm39)		probably benign	Het
Septin4	C	A	11: 87,481,175 (GRCm39)	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Sri	T	A	5: 8,109,596 (GRCm39)		probably null	Het
St3gal3	C	T	4: 117,964,875 (GRCm39)		probably benign	Het
Tfpt	A	T	7: 3,632,566 (GRCm39)	L3*	probably null	Het
Tgfb3	T	C	12: 86,124,615 (GRCm39)	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,987 (GRCm39)	C678*	probably null	Het
Tmbim1	A	G	1: 74,332,225 (GRCm39)	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,462,297 (GRCm39)		probably benign	Het
Tmprss15	A	T	16: 78,769,113 (GRCm39)	V769E	probably damaging	Het
Trak1	C	T	9: 121,275,821 (GRCm39)	R175C	probably damaging	Het
Trak1	G	T	9: 121,196,290 (GRCm39)	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,039,375 (GRCm39)	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,699,835 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,732,099 (GRCm39)	C158*	probably null	Het
Vmn2r79	A	T	7: 86,651,778 (GRCm39)	L392F	probably benign	Het
Zfp536	T	A	7: 37,179,830 (GRCm39)	D925V	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
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'- CAGTGCTACCTTCGGCATTC -3'
(R):5'- TGAACCAGAAGGCCAGTCAC -3'

Sequencing Primer
(F):5'- ACCTTCGGCATTCTTGGG -3'
(R):5'- GTCCATAGAAATGAGGTCCAGCTC -3'

Posted On

2018-03-15