Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Plppr3'

342207

Institutional Source

Beutler Lab

Gene Symbol

Plppr3

Ensembl Gene

ENSMUSG00000035835

Gene Name

phospholipid phosphatase related 3

Synonyms

BC005764, Lppr3

MMRRC Submission

041796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79860475-79874634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79866063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 315 (Q315L)

Ref Sequence

ENSEMBL: ENSMUSP00000130695 (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 benign
Transcript: ENSMUST00000092325
AA Change: Q315L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000089979
Gene: ENSMUSG00000035835
AA Change: Q315L

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

probably benign
Transcript: ENSMUST00000167250
AA Change: Q315L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835
AA Change: Q315L

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: ENSMUST00000170910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169580

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

Meta Mutation Damage Score

0.0720

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464		probably null	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrb2	A	G	11: 42,593,917	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885	M379V	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835	N186K	probably benign	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
R1982:Plppr3	UTSW	10	79866425	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
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'- ACGTGGATAGTCATGTGGCG -3'
(R):5'- CATAGAATGCTGGTGCCTCC -3'

Sequencing Primer
(F):5'- ATAGTCATGTGGCGCCGTG -3'
(R):5'- AATGCTGGTGCCTCCCTGTG -3'

Posted On

2015-09-24