Mutagenetix > Incidental Mutation

Incidental Mutation 'R1982:Plppr3'

219978

Institutional Source

Beutler Lab

Gene Symbol

Plppr3

Ensembl Gene

ENSMUSG00000035835

Gene Name

phospholipid phosphatase related 3

Synonyms

BC005764, Lppr3

MMRRC Submission

039994-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79860475-79874634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79866425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 271 (I271T)

Ref Sequence

ENSEMBL: ENSMUSP00000089979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057343] [ENSMUST00000092325] [ENSMUST00000095457] [ENSMUST00000165601] [ENSMUST00000165704] [ENSMUST00000165724] [ENSMUST00000166023] [ENSMUST00000167250] [ENSMUST00000167897] [ENSMUST00000167707] [ENSMUST00000172282]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057343

SMART Domains

Protein: ENSMUSP00000059481
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	32	38	N/A	INTRINSIC
RRM	59	128	9.8e-9	SMART
low complexity region	161	178	N/A	INTRINSIC
RRM	184	253	4.75e-7	SMART
low complexity region	305	330	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000092325
AA Change: I271T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000089979
Gene: ENSMUSG00000035835
AA Change: I271T

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
acidPPc	132	276	1.38e-16	SMART
coiled coil region	430	460	N/A	INTRINSIC
low complexity region	562	581	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095457

SMART Domains

Protein: ENSMUSP00000093109
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
Pfam:RRM_6	36	86	1.9e-5	PFAM
Pfam:RRM_5	38	90	3.6e-12	PFAM
low complexity region	121	138	N/A	INTRINSIC
RRM	144	213	4.75e-7	SMART
low complexity region	265	290	N/A	INTRINSIC
RRM	296	365	1.84e-13	SMART
RRM	413	483	2.6e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165153

Predicted Effect

probably benign
Transcript: ENSMUST00000165601

SMART Domains

Protein: ENSMUSP00000128681
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
acidPPc	132	266	7.27e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165704

SMART Domains

Protein: ENSMUSP00000127783
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	32	38	N/A	INTRINSIC
RRM	59	128	9.8e-9	SMART
low complexity region	161	178	N/A	INTRINSIC
RRM	184	253	4.75e-7	SMART
low complexity region	305	330	N/A	INTRINSIC
RRM	336	405	1.84e-13	SMART
RRM	453	523	2.6e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165724

SMART Domains

Protein: ENSMUSP00000130749
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
Pfam:RRM_5	2	40	5.3e-7	PFAM
low complexity region	114	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166023

SMART Domains

Protein: ENSMUSP00000127171
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166057

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167250
AA Change: I271T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835
AA Change: I271T

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
acidPPc	132	276	1.38e-16	SMART
low complexity region	437	454	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166593

Predicted Effect

probably benign
Transcript: ENSMUST00000167897

SMART Domains

Protein: ENSMUSP00000127972
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167707

SMART Domains

Protein: ENSMUSP00000132994
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
Blast:acidPPc	125	159	8e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172282

SMART Domains

Protein: ENSMUSP00000126192
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	32	38	N/A	INTRINSIC
RRM	59	128	9.8e-9	SMART
low complexity region	161	178	N/A	INTRINSIC
RRM	184	253	4.75e-7	SMART
low complexity region	331	356	N/A	INTRINSIC
RRM	362	431	1.84e-13	SMART
RRM	479	549	2.6e-13	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445	V382E	probably damaging	Het
Aatk	G	T	11: 120,013,514	P252Q	probably damaging	Het
Adamts4	T	C	1: 171,258,934	V765A	probably benign	Het
Agfg2	A	T	5: 137,664,253	V184E	possibly damaging	Het
Alas1	A	T	9: 106,238,185	I48N	probably damaging	Het
Anks1	T	C	17: 27,985,121	V181A	probably damaging	Het
Anxa8	A	T	14: 34,096,570	R261S	probably damaging	Het
Aqp4	T	C	18: 15,393,551	D291G	probably damaging	Het
Atrn	A	G	2: 130,970,222	R696G	probably benign	Het
Barx2	A	C	9: 31,913,012	I27S	probably damaging	Het
Btnl1	A	T	17: 34,379,751	I114L	possibly damaging	Het
Casq1	C	T	1: 172,215,530	A200T	probably damaging	Het
Ccdc33	T	A	9: 58,117,168	E225D	probably benign	Het
Cd84	C	A	1: 171,884,585		probably null	Het
Ceacam9	T	G	7: 16,725,307	L177R	probably benign	Het
Cenpi	T	A	X: 134,318,033	F161L	possibly damaging	Het
Cep63	T	C	9: 102,602,880	K251E	probably damaging	Het
Cetn3	A	G	13: 81,784,697	E25G	probably damaging	Het
Crybg3	T	C	16: 59,544,125	D2378G	possibly damaging	Het
Ddx19b	T	C	8: 111,009,343	T357A	possibly damaging	Het
Dpep2	A	C	8: 105,989,455	Y266*	probably null	Het
Dqx1	G	A	6: 83,058,577	D24N	probably damaging	Het
Dsg4	A	T	18: 20,471,212	Y912F	probably damaging	Het
Fam71f2	A	G	6: 29,285,922	T69A	probably benign	Het
Fezf2	G	T	14: 12,344,405	P261T	probably benign	Het
Fmo1	T	C	1: 162,839,756	I163M	possibly damaging	Het
Gatad2a	G	A	8: 69,913,132	R428*	probably null	Het
Gfpt1	T	A	6: 87,054,630	F85I	possibly damaging	Het
Gimap7	A	T	6: 48,724,241	I254F	possibly damaging	Het
Glcci1	T	C	6: 8,592,980	S261P	probably damaging	Het
Glis3	A	T	19: 28,531,274	F437I	probably damaging	Het
Glp1r	C	A	17: 30,925,627	S258*	probably null	Het
Gm13023	C	A	4: 143,795,150	H445Q	probably benign	Het
Gm7030	T	A	17: 36,128,722	D122V	probably damaging	Het
Gpt2	C	T	8: 85,516,203	A288V	possibly damaging	Het
Grin2c	G	T	11: 115,260,905	S76R	possibly damaging	Het
Guf1	T	A	5: 69,567,226	Y447*	probably null	Het
Hectd1	A	C	12: 51,785,841	L916V	probably damaging	Het
Hnf4g	A	G	3: 3,638,208	K96E	probably damaging	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ifi207	T	G	1: 173,735,239	M114L	probably benign	Het
Ifi35	A	T	11: 101,458,286	E252V	probably damaging	Het
Igsf9b	G	A	9: 27,322,239	R345H	possibly damaging	Het
Itih3	T	C	14: 30,923,583		probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Kidins220	A	T	12: 25,051,194	M1252L	probably benign	Het
Kifap3	T	A	1: 163,862,022	L525*	probably null	Het
Limk2	A	T	11: 3,355,461	D35E	probably benign	Het
Lrrc37a	G	A	11: 103,498,966	P1878S	probably benign	Het
Mansc4	T	A	6: 147,075,675	I148F	probably benign	Het
Mei1	A	G	15: 82,103,312	N859S	probably benign	Het
Mib1	A	G	18: 10,812,064	D987G	probably damaging	Het
Mroh8	A	G	2: 157,271,975	V132A	possibly damaging	Het
Npnt	T	C	3: 132,948,132	I29M	probably benign	Het
Nrap	T	C	19: 56,384,105	D138G	probably damaging	Het
Olfr1	A	T	11: 73,395,092	I310N	probably benign	Het
Olfr5	T	C	7: 6,480,932	M75V	probably benign	Het
Olfr512	A	G	7: 108,713,695	Y102C	probably damaging	Het
Olfr91	T	A	17: 37,093,808	E22V	probably damaging	Het
Osbpl5	A	C	7: 143,741,671		probably null	Het
Pcna-ps2	T	C	19: 9,283,683	V102A	possibly damaging	Het
Pik3c2g	T	C	6: 139,622,548	S221P	probably damaging	Het
Prkar1b	C	T	5: 139,127,643	A41T	probably benign	Het
Prkcsh	A	G	9: 22,012,868	D458G	probably damaging	Het
Prr14	G	T	7: 127,475,490	R398L	possibly damaging	Het
Ptafr	A	G	4: 132,579,985	R229G	probably damaging	Het
Rbp3	T	C	14: 33,954,545	F150S	probably damaging	Het
Rel	C	T	11: 23,742,761	G424D	probably benign	Het
Rlf	T	C	4: 121,150,112	Y557C	probably damaging	Het
Samt3	A	C	X: 86,047,134	M211L	probably benign	Het
Selenop	A	T	15: 3,275,694	I111F	probably damaging	Het
Slc2a2	G	A	3: 28,717,441	M173I	probably benign	Het
Slc43a1	G	T	2: 84,856,889	G361V	possibly damaging	Het
Slit2	G	A	5: 48,249,836	V870M	probably damaging	Het
Ssxb10	A	G	X: 8,331,019	D77G	probably benign	Het
Stk32b	T	A	5: 37,649,114	I29F	probably damaging	Het
Stra6l	T	A	4: 45,867,237	C161*	probably null	Het
Tecpr2	T	A	12: 110,954,785	M1264K	probably benign	Het
Tfap2c	A	T	2: 172,557,236	I468F	probably damaging	Het
Ticam1	C	T	17: 56,271,555	R180H	probably damaging	Het
Tlr4	T	A	4: 66,841,035	N688K	probably benign	Het
Tmem35b	A	T	4: 127,126,053		probably benign	Het
Ugt2b34	T	C	5: 86,906,313	E203G	probably damaging	Het
Vegfa	A	C	17: 46,018,860	*393G	probably null	Het
Vmn2r16	T	C	5: 109,364,024	V699A	probably benign	Het
Zfp324	T	C	7: 12,971,218	S445P	probably damaging	Het
Zfp982	T	A	4: 147,512,592	C135*	probably null	Het
Zfp990	A	C	4: 145,536,869	N146H	probably damaging	Het
Zfyve26	A	G	12: 79,255,243	Y431H	possibly damaging	Het

Other mutations in Plppr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Plppr3	APN	10	79866669	missense	probably damaging	1.00
IGL01108:Plppr3	APN	10	79867521	missense	probably damaging	1.00
IGL01116:Plppr3	APN	10	79866923	missense	probably damaging	1.00
IGL01362:Plppr3	APN	10	79865961	missense	probably damaging	1.00
IGL03065:Plppr3	APN	10	79866046	missense	probably benign	0.06
R0972:Plppr3	UTSW	10	79865086	missense	probably damaging	0.99
R1508:Plppr3	UTSW	10	79867540	missense	probably damaging	1.00
R1844:Plppr3	UTSW	10	79866410	critical splice donor site	probably null
R1907:Plppr3	UTSW	10	79874069	missense	probably damaging	1.00
R1984:Plppr3	UTSW	10	79867460	nonsense	probably null
R1985:Plppr3	UTSW	10	79867460	nonsense	probably null
R2116:Plppr3	UTSW	10	79865738	missense	probably benign	0.01
R2355:Plppr3	UTSW	10	79865360	missense	possibly damaging	0.81
R4092:Plppr3	UTSW	10	79867480	missense	probably damaging	1.00
R4572:Plppr3	UTSW	10	79866063	missense	probably benign	0.03
R4685:Plppr3	UTSW	10	79867525	missense	probably damaging	1.00
R4824:Plppr3	UTSW	10	79865673	missense	possibly damaging	0.81
R5102:Plppr3	UTSW	10	79865386	missense	possibly damaging	0.84
R5212:Plppr3	UTSW	10	79862445	missense	probably benign	0.00
R5584:Plppr3	UTSW	10	79866452	missense	probably damaging	1.00
R5684:Plppr3	UTSW	10	79865317	missense	possibly damaging	0.81
R5778:Plppr3	UTSW	10	79866503	missense	possibly damaging	0.78
R5954:Plppr3	UTSW	10	79866126	missense	probably benign	0.05
R6306:Plppr3	UTSW	10	79861732	nonsense	probably null
R6357:Plppr3	UTSW	10	79865406	missense	probably benign	0.06
R7134:Plppr3	UTSW	10	79865703	missense	probably damaging	0.96
R7657:Plppr3	UTSW	10	79866438	missense	probably benign	0.21
R8051:Plppr3	UTSW	10	79867004	missense	probably damaging	1.00
R8463:Plppr3	UTSW	10	79867563	missense	probably damaging	1.00
R9472:Plppr3	UTSW	10	79866877	missense	probably damaging	1.00
X0067:Plppr3	UTSW	10	79865284	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGGCATGAGGCTGTTATCCAG -3'
(R):5'- CACCCGTTGGCTAGATGTACTTC -3'

Sequencing Primer
(F):5'- CTGTTATCCAGCAGGGGACAG -3'
(R):5'- GGCTAGATGTACTTCAACGCG -3'

Posted On

2014-08-25