Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Plppr4'

715616

Institutional Source

Beutler Lab

Gene Symbol

Plppr4

Ensembl Gene

ENSMUSG00000044667

Gene Name

phospholipid phosphatase related 4

Synonyms

D3Bwg0562e, PRG-1, Lppr4

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117112794-117154525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117116866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 330 (N330K)

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: N330K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: N330K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197743
AA Change: N272K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667
AA Change: N272K

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 78,903,565 (GRCm39)	K250N	probably damaging	Het
Adam5	A	T	8: 25,237,540 (GRCm39)	D623E	possibly damaging	Het
Akt3	T	C	1: 176,852,952 (GRCm39)	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,805,617 (GRCm39)	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,616,927 (GRCm39)	T908S	probably benign	Het
Clec7a	G	A	6: 129,440,126 (GRCm39)	Q160*	probably null	Het
Cntnap4	T	A	8: 113,460,103 (GRCm39)	I152N	probably damaging	Het
Ctdspl	C	T	9: 118,866,445 (GRCm39)	A179V	probably damaging	Het
Ddx43	T	C	9: 78,313,668 (GRCm39)	S200P	probably damaging	Het
Dip2c	A	G	13: 9,544,963 (GRCm39)	D84G	unknown	Het
Dmbt1	G	A	7: 130,675,987 (GRCm39)	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
E2f7	C	T	10: 110,603,050 (GRCm39)	T355I	probably damaging	Het
E2f7	C	A	10: 110,614,918 (GRCm39)	L541M	probably damaging	Het
Elovl5	T	A	9: 77,890,007 (GRCm39)	S273T	possibly damaging	Het
Emc1	T	A	4: 139,093,705 (GRCm39)	L605Q	probably damaging	Het
Fras1	T	A	5: 96,887,124 (GRCm39)	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,265,690 (GRCm39)	G195E	probably damaging	Het
Galm	A	G	17: 80,457,561 (GRCm39)	D199G	possibly damaging	Het
Galntl6	T	G	8: 58,230,359 (GRCm39)	S20R	probably damaging	Het
Grb14	T	G	2: 64,768,744 (GRCm39)	Y189S	probably damaging	Het
Hk2	T	A	6: 82,705,895 (GRCm39)	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,506,471 (GRCm39)	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,796,403 (GRCm39)	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,276,639 (GRCm39)	K68N	possibly damaging	Het
Inhba	A	C	13: 16,192,263 (GRCm39)	E128A	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Klhl3	G	A	13: 58,167,273 (GRCm39)	P364S	probably damaging	Het
Lhpp	T	C	7: 132,243,312 (GRCm39)	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Lrp3	A	G	7: 34,903,489 (GRCm39)	F286L	probably damaging	Het
Lrrc7	T	C	3: 157,841,028 (GRCm39)	T1337A	probably benign	Het
Magi2	A	G	5: 20,400,019 (GRCm39)	D17G	probably benign	Het
Map3k21	T	C	8: 126,650,903 (GRCm39)	S302P	probably damaging	Het
Matcap2	T	C	9: 22,343,015 (GRCm39)	M303T	probably damaging	Het
Mbtd1	A	G	11: 93,816,511 (GRCm39)	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,916,820 (GRCm39)	D306E	possibly damaging	Het
Muc20	T	C	16: 32,614,453 (GRCm39)	E308G	probably damaging	Het
Myh13	G	A	11: 67,255,712 (GRCm39)	S34N		Het
Nebl	C	A	2: 17,374,421 (GRCm39)	G894*	probably null	Het
Nelfa	A	G	5: 34,056,095 (GRCm39)	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,341,076 (GRCm39)	D13G	probably benign	Het
Ninl	A	T	2: 150,782,726 (GRCm39)	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,068,626 (GRCm39)	V176M	possibly damaging	Het
Nobox	G	A	6: 43,284,115 (GRCm39)	R144C	probably damaging	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or4a81	A	C	2: 89,619,506 (GRCm39)	Y63*	probably null	Het
Or52z15	A	T	7: 103,332,477 (GRCm39)	Y184F	probably damaging	Het
Or5w20	T	C	2: 87,726,693 (GRCm39)	M50T	probably benign	Het
Or6z1	A	G	7: 6,505,150 (GRCm39)	L25P	probably benign	Het
Or7c70	T	C	10: 78,682,891 (GRCm39)	N286S	probably damaging	Het
Or8h9	A	G	2: 86,789,757 (GRCm39)	M15T	probably benign	Het
Orai1	A	G	5: 123,167,301 (GRCm39)	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,398,967 (GRCm39)	V121L	probably benign	Het
Pclo	T	C	5: 14,571,250 (GRCm39)	S212P	possibly damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Plg	A	G	17: 12,622,024 (GRCm39)	Y448C	probably damaging	Het
Pou2f2	A	G	7: 24,794,247 (GRCm39)	L373S	probably benign	Het
Rnpep	A	G	1: 135,211,341 (GRCm39)	F136L	probably benign	Het
Rp1	A	G	1: 4,162,838 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 75,986,238 (GRCm39)		probably benign	Het
Slc5a5	T	C	8: 71,337,596 (GRCm39)	D574G	probably benign	Het
Slc7a15	T	A	12: 8,588,794 (GRCm39)	N251I	probably damaging	Het
Speer4a3	A	T	5: 26,158,136 (GRCm39)	I72N	probably damaging	Het
Susd4	T	C	1: 182,719,665 (GRCm39)	S427P	probably benign	Het
Tarbp1	T	A	8: 127,155,779 (GRCm39)	T1320S	probably benign	Het
Tbpl2	C	T	2: 23,984,650 (GRCm39)	V166I	probably benign	Het
Thbs1	T	C	2: 117,950,518 (GRCm39)		probably null	Het
Tnfsf13b	A	G	8: 10,081,648 (GRCm39)	Y270C	probably damaging	Het
Vps11	G	T	9: 44,260,290 (GRCm39)	C857*	probably null	Het
Vsig10	G	A	5: 117,463,104 (GRCm39)	R110H	probably benign	Het
Wee2	T	A	6: 40,432,044 (GRCm39)	Y204*	probably null	Het
Zfpm2	T	A	15: 40,966,867 (GRCm39)	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,234,472 (GRCm39)	N166S	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
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
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'- TCAAGGAGCTTGCATCCCTG -3'
(R):5'- GGTCCAGACAGTTAAGAGCTACATAC -3'

Sequencing Primer
(F):5'- GAGCTTGCATCCCTGTGGTTTC -3'
(R):5'- GAGCTACATACACCACTATTATCCC -3'

Posted On

2022-06-15