Mutagenetix > Incidental Mutation

Incidental Mutation 'R1682:Plppr1'

189221

Institutional Source

Beutler Lab

Gene Symbol

Plppr1

Ensembl Gene

ENSMUSG00000063446

Gene Name

phospholipid phosphatase related 1

Synonyms

PRG-3, E130309F12Rik, Lppr1

MMRRC Submission

039718-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R1682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49059273-49340259 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 49325617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076670] [ENSMUST00000076670]

AlphaFold

Q8BFZ2

Predicted Effect

probably null
Transcript: ENSMUST00000076670

SMART Domains

Protein: ENSMUSP00000075966
Gene: ENSMUSG00000063446

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
acidPPc	128	272	4.47e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000076670

SMART Domains

Protein: ENSMUSP00000075966
Gene: ENSMUSG00000063446

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
acidPPc	128	272	4.47e-16	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,392,217	D2203G	probably benign	Het
Acin1	A	G	14: 54,663,718	S629P	probably damaging	Het
Agbl2	T	A	2: 90,784,090	I22N	probably benign	Het
Ank1	A	G	8: 23,109,327	E796G	probably damaging	Het
Ankrd13d	A	G	19: 4,282,933	L13P	probably damaging	Het
Ankrd36	T	C	11: 5,607,143	S364P	possibly damaging	Het
Ap2a1	T	C	7: 44,915,938	T126A	probably benign	Het
Apob	A	G	12: 8,012,365	I3616V	probably benign	Het
Arl5a	A	T	2: 52,416,202	N39K	probably benign	Het
Baiap2	G	A	11: 119,997,540	R334H	probably damaging	Het
Bbox1	T	A	2: 110,292,548	N132I	possibly damaging	Het
Bcl11b	A	G	12: 107,916,649	L469P	probably damaging	Het
Brca1	A	G	11: 101,525,565	I581T	probably damaging	Het
Cacng2	T	C	15: 78,118,797	Y32C	probably damaging	Het
Capn9	G	T	8: 124,611,565		probably null	Het
Cdh18	A	G	15: 23,400,585	T290A	probably benign	Het
Cdk5rap2	C	T	4: 70,302,150	V593I	possibly damaging	Het
Cep128	G	C	12: 91,230,822	D91E	probably damaging	Het
Cep295	T	C	9: 15,333,921	M1080V	probably benign	Het
Coq8b	T	A	7: 27,240,124	M193K	probably benign	Het
Csn1s2b	A	G	5: 87,822,303	Y131C	probably damaging	Het
D130043K22Rik	T	C	13: 24,882,556	S779P	probably damaging	Het
Dgat1	C	T	15: 76,503,019	C356Y	probably benign	Het
Dnah12	A	T	14: 26,778,883	T1543S	possibly damaging	Het
Dock3	T	C	9: 106,973,841	S821G	probably damaging	Het
Dock4	G	A	12: 40,725,780	C574Y	probably damaging	Het
Dr1	T	C	5: 108,269,738	I50T	probably damaging	Het
Dzip3	A	T	16: 48,958,417		probably null	Het
Eln	C	A	5: 134,703,782	*861L	probably null	Het
Eml6	T	A	11: 29,759,065	H24L	probably benign	Het
Eps8l3	A	C	3: 107,891,306	T503P	possibly damaging	Het
Fam69c	A	T	18: 84,736,863	I155F	possibly damaging	Het
Fgf1	C	A	18: 38,841,932	D155Y	possibly damaging	Het
Fkbp15	A	T	4: 62,324,194	M507K	probably damaging	Het
Flnb	A	T	14: 7,913,121	R1463S	probably benign	Het
Fras1	C	T	5: 96,645,873	T1018I	probably benign	Het
Gm10803	T	A	2: 93,564,188	C102S	probably damaging	Het
Gpatch1	C	A	7: 35,303,387	V233L	possibly damaging	Het
Gramd1a	T	C	7: 31,142,900		probably null	Het
Gsk3a	T	C	7: 25,235,708	T106A	possibly damaging	Het
Hap1	A	G	11: 100,349,476	V136A	possibly damaging	Het
Helq	A	T	5: 100,792,813	S307T	probably benign	Het
Herc2	T	A	7: 56,088,400	S264T	possibly damaging	Het
Htr4	A	G	18: 62,428,066	M133V	possibly damaging	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Jakmip2	A	G	18: 43,581,831		probably null	Het
Ldhd	T	A	8: 111,628,113	S358C	possibly damaging	Het
Lrp1	A	T	10: 127,574,332	V1515E	probably damaging	Het
Ltbp3	A	G	19: 5,751,754	D700G	probably benign	Het
Magel2	T	G	7: 62,380,235	S962R	unknown	Het
Map2	A	C	1: 66,415,622		probably null	Het
Map3k1	T	A	13: 111,757,150	E704V	probably damaging	Het
Mrpl39	A	T	16: 84,730,459	V180D	probably damaging	Het
Myef2	T	C	2: 125,098,058	M383V	probably damaging	Het
Myh3	A	G	11: 67,089,065	Y610C	probably damaging	Het
Olfr1328	A	G	4: 118,934,581	L89P	probably damaging	Het
Olfr555	T	C	7: 102,659,697	V292A	probably damaging	Het
Olfr969	T	A	9: 39,795,658	Y94*	probably null	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pabpc1	T	A	15: 36,605,541	N135I	possibly damaging	Het
Pcsk6	T	A	7: 65,910,228	H100Q	probably damaging	Het
Pdss1	A	G	2: 22,915,519	K270E	probably damaging	Het
Pigx	A	T	16: 32,087,450	S18T	possibly damaging	Het
Plbd2	T	A	5: 120,485,784	T558S	probably damaging	Het
Plppr2	T	A	9: 21,944,421	V230E	possibly damaging	Het
Pola2	A	G	19: 5,953,063		probably null	Het
Ppp2r3a	A	G	9: 101,212,306	S273P	probably benign	Het
Prkdc	A	G	16: 15,676,989	E741G	probably benign	Het
Prom2	C	A	2: 127,540,162	V111L	possibly damaging	Het
Rapgef4	A	G	2: 72,226,568	D557G	possibly damaging	Het
Rgs10	T	C	7: 128,373,970	T158A	probably benign	Het
Rnf123	A	C	9: 108,077,398	Y40D	probably benign	Het
Rnf14	A	G	18: 38,308,189	T211A	probably benign	Het
Rp1l1	T	A	14: 64,028,968	S668T	probably damaging	Het
Sema6d	T	A	2: 124,665,149	L946Q	probably benign	Het
Sgcd	T	G	11: 47,195,042	K94Q	probably benign	Het
Skor2	A	T	18: 76,859,516	D311V	unknown	Het
Slc17a2	A	T	13: 23,812,640	I43F	probably damaging	Het
Spdye4c	C	A	2: 128,592,622	P40T	probably damaging	Het
Srp72	C	A	5: 76,987,870	Q216K	possibly damaging	Het
Tmem62	C	T	2: 121,007,057	T485I	probably benign	Het
Tmem94	G	T	11: 115,790,230	V432L	probably damaging	Het
Trio	T	C	15: 27,744,146		probably null	Het
Uggt2	A	T	14: 119,054,643	D581E	probably benign	Het
Unc5d	T	A	8: 28,759,081	S319C	probably damaging	Het
Vmn1r211	T	C	13: 22,851,643	I285V	probably damaging	Het
Vmn2r68	A	G	7: 85,233,366	Y393H	possibly damaging	Het
Vmn2r99	A	C	17: 19,377,945	N77T	probably damaging	Het

Other mutations in Plppr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01980:Plppr1	APN	4	49319992	missense	possibly damaging	0.88
PIT4403001:Plppr1	UTSW	4	49337648	missense	probably benign	0.01
R0605:Plppr1	UTSW	4	49323466	missense	probably damaging	1.00
R1381:Plppr1	UTSW	4	49337674	missense	possibly damaging	0.85
R1452:Plppr1	UTSW	4	49301067	splice site	probably benign
R1980:Plppr1	UTSW	4	49337655	missense	probably benign	0.09
R4261:Plppr1	UTSW	4	49300993	missense	probably benign	0.09
R4674:Plppr1	UTSW	4	49323384	missense	probably damaging	1.00
R5064:Plppr1	UTSW	4	49319974	missense	probably benign	0.19
R5144:Plppr1	UTSW	4	49319800	missense	possibly damaging	0.71
R7545:Plppr1	UTSW	4	49320002	missense	possibly damaging	0.88
R7823:Plppr1	UTSW	4	49325703	missense	probably benign	0.01
R8049:Plppr1	UTSW	4	49300942	missense	probably benign
R8902:Plppr1	UTSW	4	49319836	missense	probably damaging	1.00
R9378:Plppr1	UTSW	4	49325627	nonsense	probably null
R9775:Plppr1	UTSW	4	49323435	missense	probably benign	0.27
Z1177:Plppr1	UTSW	4	49319950	missense	probably damaging	1.00
Z1177:Plppr1	UTSW	4	49319995	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACAAGGGGACTTACACGGGTCATAC -3'
(R):5'- CAAAGGTCATGCGTTTGCTTGCTAC -3'

Sequencing Primer
(F):5'- aatctataaggtaagttttctcgctc -3'
(R):5'- ACAGTGACTTTACTATACCTGTGC -3'

Posted On

2014-05-14