Mutagenetix > Incidental Mutation

Incidental Mutation 'R8762:Plppr4'

671833

Institutional Source

Beutler Lab

Gene Symbol

Plppr4

Ensembl Gene

ENSMUSG00000044667

Gene Name

phospholipid phosphatase related 4

Synonyms

D3Bwg0562e, PRG-1, Lppr4

MMRRC Submission

068622-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8762 (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 117119482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 309 (V309D)

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: V309D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: V309D

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

Meta Mutation Damage Score

0.7988

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	G	11: 101,301,226 (GRCm39)	V272A	probably benign	Het
Acbd6	G	A	1: 155,562,706 (GRCm39)	E236K	probably damaging	Het
Actr1b	T	C	1: 36,748,909 (GRCm39)	N9S	probably benign	Het
Adam17	A	T	12: 21,401,595 (GRCm39)	D133E	probably benign	Het
Adam6b	G	A	12: 113,453,227 (GRCm39)	V15M	probably damaging	Het
Adam9	T	A	8: 25,457,235 (GRCm39)	N631I	probably damaging	Het
Albfm1	A	G	5: 90,714,461 (GRCm39)	N157S	probably benign	Het
Amy2a1	A	T	3: 113,325,276 (GRCm39)		probably benign	Het
Aplnr	A	T	2: 84,967,515 (GRCm39)	Y180F	probably benign	Het
Arhgef7	T	C	8: 11,831,216 (GRCm39)	V105A	probably benign	Het
Bambi	G	A	18: 3,511,277 (GRCm39)	D33N	probably damaging	Het
Bicc1	G	A	10: 70,779,216 (GRCm39)	T724I	probably benign	Het
Brd2	T	A	17: 34,335,934 (GRCm39)	Q93L	probably damaging	Het
Cacnb2	A	G	2: 14,972,759 (GRCm39)	D222G	possibly damaging	Het
Cdh1	G	T	8: 107,386,336 (GRCm39)	D420Y	probably damaging	Het
Cep162	T	C	9: 87,109,314 (GRCm39)	S430G	probably benign	Het
Cfap161	T	A	7: 83,443,282 (GRCm39)	R27S	possibly damaging	Het
Chek1	C	T	9: 36,629,636 (GRCm39)	A237T	probably benign	Het
Chrna3	T	A	9: 54,922,995 (GRCm39)	K271M	probably damaging	Het
Coro7	A	C	16: 4,452,203 (GRCm39)	V410G	probably benign	Het
Crmp1	C	A	5: 37,441,440 (GRCm39)	N507K	probably damaging	Het
Crocc	T	C	4: 140,761,369 (GRCm39)	R755G	possibly damaging	Het
Disc1	A	G	8: 125,881,796 (GRCm39)	D577G	probably damaging	Het
Dnah6	A	G	6: 73,156,811 (GRCm39)	Y649H	possibly damaging	Het
Flywch1	A	G	17: 23,975,731 (GRCm39)	S504P	probably damaging	Het
Fpr1	A	T	17: 18,097,851 (GRCm39)	V46D	probably damaging	Het
Fpr-rs7	C	T	17: 20,333,789 (GRCm39)	V234M	probably benign	Het
Ighv5-16	T	C	12: 113,802,288 (GRCm39)	N71D	probably benign	Het
Kash5	G	T	7: 44,845,481 (GRCm39)	D152E	probably damaging	Het
Kdm3b	A	G	18: 34,937,157 (GRCm39)	M480V	probably benign	Het
L3mbtl3	T	A	10: 26,152,121 (GRCm39)	D825V	probably damaging	Het
Lef1	T	A	3: 130,988,366 (GRCm39)	M311K	probably damaging	Het
Magi1	T	A	6: 93,792,789 (GRCm39)	R150*	probably null	Het
Magi3	C	T	3: 103,958,169 (GRCm39)	V639I	probably damaging	Het
Mocos	A	T	18: 24,812,554 (GRCm39)	R483W	probably damaging	Het
Mrps11	G	T	7: 78,438,487 (GRCm39)	V80F	possibly damaging	Het
Myh2	A	T	11: 67,084,578 (GRCm39)	R1706W	probably damaging	Het
Neurod6	T	A	6: 55,656,228 (GRCm39)	L136F	probably damaging	Het
Nfe2l1	A	T	11: 96,711,306 (GRCm39)	Y308N	probably damaging	Het
Nptn	T	A	9: 58,525,905 (GRCm39)		probably benign	Het
Or1e28-ps1	G	T	11: 73,615,307 (GRCm39)	T181N	unknown	Het
Or5g25	A	T	2: 85,478,034 (GRCm39)	S210R	probably damaging	Het
Oscar	A	G	7: 3,613,900 (GRCm39)	S227P	probably benign	Het
Phgdh	A	C	3: 98,247,024 (GRCm39)	I42R	possibly damaging	Het
Pla2g4a	C	T	1: 149,761,935 (GRCm39)	G174D	probably benign	Het
Plcd4	A	G	1: 74,591,213 (GRCm39)	T203A	possibly damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Pltp	T	C	2: 164,686,652 (GRCm39)	K324E	possibly damaging	Het
Pml	C	T	9: 58,154,348 (GRCm39)	R175H	probably damaging	Het
Psg20	C	A	7: 18,408,557 (GRCm39)	V388F	probably benign	Het
Qrfprl	T	C	6: 65,424,393 (GRCm39)	V182A	probably benign	Het
Rabgef1	A	G	5: 130,237,557 (GRCm39)	D209G	possibly damaging	Het
Rif1	A	T	2: 52,001,742 (GRCm39)	N90I		Het
Sec31a	T	C	5: 100,526,688 (GRCm39)	H57R		Het
Sidt1	T	C	16: 44,152,707 (GRCm39)	N62S	probably benign	Het
Slc18a2	T	A	19: 59,261,355 (GRCm39)	M172K	probably benign	Het
Slc34a3	T	C	2: 25,121,003 (GRCm39)	T362A	probably benign	Het
Smtn	T	G	11: 3,476,407 (GRCm39)	D158A	probably benign	Het
Spen	C	T	4: 141,200,261 (GRCm39)	V2789M	probably damaging	Het
Taf2	A	T	15: 54,910,849 (GRCm39)	N608K	probably benign	Het
Tctn3	A	G	19: 40,595,636 (GRCm39)	V383A	unknown	Het
Themis3	A	T	17: 66,866,676 (GRCm39)	M188K	probably benign	Het
Trpv5	A	G	6: 41,652,313 (GRCm39)	V124A	probably benign	Het
Tshr	G	A	12: 91,504,324 (GRCm39)	V421M	probably damaging	Het
Ttn	T	A	2: 76,539,426 (GRCm39)	D34520V	probably benign	Het
Ttn	A	C	2: 76,608,294 (GRCm39)	Y17876*	probably null	Het
Zrsr2-ps1	T	C	11: 22,923,694 (GRCm39)	L156P	probably benign	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
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'- ATTCTGGCTCACAAGAAGAACTC -3'
(R):5'- TAACACAGTGGCCTTTCTCG -3'

Sequencing Primer
(F):5'- GGCTCACAAGAAGAACTCATTAAATC -3'
(R):5'- AGTGGCCTTTCTCGCACAC -3'

Posted On

2021-04-30