Mutagenetix > Incidental Mutation

Incidental Mutation 'R5441:Plppr5'

427165

Institutional Source

Beutler Lab

Gene Symbol

Plppr5

Ensembl Gene

ENSMUSG00000033342

Gene Name

phospholipid phosphatase related 5

Synonyms

Lppr5, 4833424O15Rik

MMRRC Submission

043006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117368274-117483157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117456120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 214 (I214F)

Ref Sequence

ENSEMBL: ENSMUSP00000102081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039564] [ENSMUST00000106473]

AlphaFold

Q8BJ52

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039564
AA Change: I214F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045121
Gene: ENSMUSG00000033342
AA Change: I214F

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
acidPPc	123	267	8.27e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106473
AA Change: I214F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102081
Gene: ENSMUSG00000033342
AA Change: I214F

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
acidPPc	123	267	8.27e-20	SMART

Meta Mutation Damage Score

0.0610

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,334,215 (GRCm39)	Y1096H	probably damaging	Het
Aspa	A	T	11: 73,196,420 (GRCm39)	F261I	probably damaging	Het
Atm	C	A	9: 53,427,767 (GRCm39)	G448*	probably null	Het
Atmin	T	A	8: 117,684,696 (GRCm39)	D785E	probably damaging	Het
Car1	G	C	3: 14,841,364 (GRCm39)	R90G	probably damaging	Het
Cdh11	T	C	8: 103,374,178 (GRCm39)	D520G	probably benign	Het
Cers5	T	A	15: 99,649,119 (GRCm39)	K50*	probably null	Het
Chad	A	T	11: 94,459,118 (GRCm39)	D340V	probably benign	Het
Cspg5	T	C	9: 110,075,711 (GRCm39)	I68T	probably benign	Het
Fcgbpl1	C	T	7: 27,856,339 (GRCm39)	T2042M	probably damaging	Het
Fcrla	T	A	1: 170,752,991 (GRCm39)		probably benign	Het
Fer1l4	T	A	2: 155,865,177 (GRCm39)	D1608V	probably benign	Het
Fzd5	T	A	1: 64,774,576 (GRCm39)	Q395L	probably benign	Het
Gm7664	T	A	13: 62,676,464 (GRCm39)		probably benign	Het
Hk3	T	C	13: 55,162,869 (GRCm39)	E2G	probably damaging	Het
Hmcn2	G	A	2: 31,296,428 (GRCm39)	E2677K	possibly damaging	Het
Hydin	T	C	8: 111,291,741 (GRCm39)	L3411P	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Lysmd2	C	T	9: 75,533,254 (GRCm39)	H70Y	possibly damaging	Het
Msi2	A	G	11: 88,370,818 (GRCm39)		probably benign	Het
Msi2	G	A	11: 88,608,921 (GRCm39)		probably benign	Het
Napsa	T	A	7: 44,230,817 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,153,578 (GRCm39)	L710M	probably damaging	Het
Or10g1	T	A	14: 52,647,414 (GRCm39)	K305M	probably benign	Het
Or12d13	T	C	17: 37,647,159 (GRCm39)		probably null	Het
Or5m13	T	A	2: 85,748,934 (GRCm39)	F222I	probably benign	Het
Or6ae1	T	C	7: 139,742,564 (GRCm39)	T100A	probably benign	Het
Or9a2	C	T	6: 41,748,782 (GRCm39)	M150I	probably benign	Het
Plbd2	T	A	5: 120,637,147 (GRCm39)	Y105F	probably benign	Het
Pramel34	A	T	5: 93,784,456 (GRCm39)	M139K	possibly damaging	Het
Ptcd3	A	G	6: 71,858,505 (GRCm39)	V655A	possibly damaging	Het
Ptpn14	T	C	1: 189,530,767 (GRCm39)	L78P	probably damaging	Het
Ralgapa1	A	C	12: 55,766,408 (GRCm39)	D1295E	probably damaging	Het
Rnf213	G	A	11: 119,299,846 (GRCm39)	D192N	probably damaging	Het
Ropn1	A	G	16: 34,487,167 (GRCm39)	I34M	probably damaging	Het
Rpe65	G	T	3: 159,310,038 (GRCm39)	G104C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,582 (GRCm39)		probably benign	Het
Sh3bgr	T	C	16: 96,007,117 (GRCm39)	I29T	possibly damaging	Het
Smg1	T	C	7: 117,794,304 (GRCm39)		probably benign	Het
Stim2	T	A	5: 54,232,712 (GRCm39)	C68*	probably null	Het
Syne2	G	A	12: 76,035,917 (GRCm39)	V3736I	possibly damaging	Het
Tbx19	T	C	1: 164,981,249 (GRCm39)	N82D	probably damaging	Het
Tdp1	T	A	12: 99,876,544 (GRCm39)	V353D	probably damaging	Het
Tg	T	A	15: 66,568,369 (GRCm39)	I1352K	possibly damaging	Het
Thsd4	T	C	9: 59,887,066 (GRCm39)	T919A	probably damaging	Het
Tmprss11f	A	T	5: 86,676,062 (GRCm39)	M373K	probably damaging	Het
Tmprss15	T	A	16: 78,868,335 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Ube2o	G	A	11: 116,435,268 (GRCm39)	R507C	probably damaging	Het
Unc93b1	T	C	19: 3,993,703 (GRCm39)	F382L	probably benign	Het
Vav2	A	T	2: 27,160,122 (GRCm39)		probably benign	Het
Vmn1r207	T	C	13: 22,910,686 (GRCm39)		noncoding transcript	Het
Zan	T	A	5: 137,435,013 (GRCm39)	I2127F	unknown	Het
Zfp748	C	A	13: 67,688,737 (GRCm39)	C841F	probably damaging	Het
Zic4	C	A	9: 91,266,253 (GRCm39)	P299Q	probably damaging	Het

Other mutations in Plppr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Plppr5	APN	3	117,465,592 (GRCm39)	missense	possibly damaging	0.46
IGL01081:Plppr5	APN	3	117,480,298 (GRCm39)	utr 3 prime	probably benign
IGL01315:Plppr5	APN	3	117,456,175 (GRCm39)	missense	probably damaging	1.00
IGL02802:Plppr5	UTSW	3	117,456,228 (GRCm39)	missense	probably damaging	1.00
R0044:Plppr5	UTSW	3	117,465,538 (GRCm39)	splice site	probably null
R0044:Plppr5	UTSW	3	117,465,538 (GRCm39)	splice site	probably null
R0332:Plppr5	UTSW	3	117,465,581 (GRCm39)	missense	probably benign	0.05
R0757:Plppr5	UTSW	3	117,369,540 (GRCm39)	missense	probably benign	0.16
R1101:Plppr5	UTSW	3	117,456,172 (GRCm39)	missense	probably damaging	0.99
R1354:Plppr5	UTSW	3	117,369,496 (GRCm39)	missense	possibly damaging	0.94
R1498:Plppr5	UTSW	3	117,456,261 (GRCm39)	missense	probably damaging	0.97
R1967:Plppr5	UTSW	3	117,419,555 (GRCm39)	critical splice donor site	probably null
R2090:Plppr5	UTSW	3	117,369,520 (GRCm39)	missense	possibly damaging	0.63
R4661:Plppr5	UTSW	3	117,414,618 (GRCm39)	missense	probably damaging	1.00
R5143:Plppr5	UTSW	3	117,419,552 (GRCm39)	missense	probably benign
R5722:Plppr5	UTSW	3	117,414,714 (GRCm39)	missense	probably benign	0.00
R6560:Plppr5	UTSW	3	117,465,639 (GRCm39)	missense	probably benign	0.09
R7221:Plppr5	UTSW	3	117,414,618 (GRCm39)	missense	probably damaging	1.00
R8556:Plppr5	UTSW	3	117,465,679 (GRCm39)	missense	probably benign
R8925:Plppr5	UTSW	3	117,369,532 (GRCm39)	missense	probably benign	0.41
R8927:Plppr5	UTSW	3	117,369,532 (GRCm39)	missense	probably benign	0.41
R9015:Plppr5	UTSW	3	117,456,103 (GRCm39)	missense	probably damaging	1.00
Z1177:Plppr5	UTSW	3	117,419,428 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCACACTTAAATTCCACCTTTATG -3'
(R):5'- ATCCTTCCATCTTCTTAGAGGTGG -3'

Sequencing Primer
(F):5'- CATTCCGAGTGTGGTGAGACAC -3'
(R):5'- GGAAGCCTGCTATCACAT -3'

Posted On

2016-09-01