Mutagenetix > Incidental Mutation

Incidental Mutation 'R8151:Plppr2'

632960

Institutional Source

Beutler Lab

Gene Symbol

Plppr2

Ensembl Gene

ENSMUSG00000040563

Gene Name

phospholipid phosphatase related 2

Synonyms

BC018242, Lppr2, PRG-4

MMRRC Submission

067577-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R8151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21848329-21860203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21852105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 64 (E64G)

Ref Sequence

ENSEMBL: ENSMUSP00000038616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006403] [ENSMUST00000046371] [ENSMUST00000170304] [ENSMUST00000188468] [ENSMUST00000190387] [ENSMUST00000214734] [ENSMUST00000216710]

AlphaFold

Q8VCY8

Predicted Effect

probably benign
Transcript: ENSMUST00000006403

SMART Domains

Protein: ENSMUSP00000006403
Gene: ENSMUSG00000006241

Domain	Start	End	E-Value	Type
low complexity region	42	52	N/A	INTRINSIC
coiled coil region	152	172	N/A	INTRINSIC
low complexity region	217	227	N/A	INTRINSIC
coiled coil region	261	288	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000046371
AA Change: E64G

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

SMART Domains

Protein: ENSMUSP00000038616
Gene: ENSMUSG00000040563
AA Change: E64G

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
acidPPc	130	281	2.31e-9	SMART
low complexity region	363	422	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170304

SMART Domains

Protein: ENSMUSP00000126474
Gene: ENSMUSG00000006241

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC
coiled coil region	160	180	N/A	INTRINSIC
low complexity region	225	235	N/A	INTRINSIC
coiled coil region	269	296	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188468
AA Change: E39G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140166
Gene: ENSMUSG00000040563
AA Change: E39G

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
transmembrane domain	46	63	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
acidPPc	105	256	1.1e-11	SMART
low complexity region	338	397	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190387
AA Change: E64G

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

SMART Domains

Protein: ENSMUSP00000139727
Gene: ENSMUSG00000040563
AA Change: E64G

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
acidPPc	130	281	2.31e-9	SMART
low complexity region	322	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214734

Predicted Effect

probably benign
Transcript: ENSMUST00000216710

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,982,043 (GRCm39)	I1109T	possibly damaging	Het
Aipl1	C	A	11: 71,927,584 (GRCm39)	D44Y	probably benign	Het
Aldh8a1	C	T	10: 21,271,465 (GRCm39)	T397M	probably damaging	Het
Btbd16	T	C	7: 130,398,825 (GRCm39)	S278P	probably damaging	Het
Ccdc110	G	A	8: 46,395,830 (GRCm39)	E574K	probably damaging	Het
Cd19	T	A	7: 126,013,478 (GRCm39)	K104*	probably null	Het
Cenpe	A	G	3: 134,952,783 (GRCm39)	E1491G	probably benign	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Col18a1	T	C	10: 76,948,418 (GRCm39)	T365A	unknown	Het
Ctif	G	T	18: 75,653,176 (GRCm39)	D360E	probably benign	Het
Fat4	G	A	3: 38,946,203 (GRCm39)	E1699K	probably damaging	Het
Fbxo39	G	A	11: 72,208,526 (GRCm39)	V293M	probably damaging	Het
Fcgbpl1	T	C	7: 27,852,766 (GRCm39)	I1351T	possibly damaging	Het
Fhip1a	A	T	3: 85,595,847 (GRCm39)	I346N	probably damaging	Het
Havcr2	A	G	11: 46,366,722 (GRCm39)	K221E	possibly damaging	Het
Hdac5	T	C	11: 102,097,294 (GRCm39)	T209A	probably benign	Het
Herc1	A	G	9: 66,341,073 (GRCm39)	Q1730R	probably damaging	Het
Ifi202b	T	C	1: 173,804,923 (GRCm39)	T10A	probably benign	Het
Il18rap	T	C	1: 40,564,428 (GRCm39)	S153P	probably benign	Het
Klk1b21	C	T	7: 43,753,787 (GRCm39)	R24*	probably null	Het
Kras	ACTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTC	6: 145,166,360 (GRCm39)		probably benign	Het
Ldlrad4	A	G	18: 68,383,643 (GRCm39)	E113G	possibly damaging	Het
Lhcgr	AT	ATT	17: 89,049,677 (GRCm39)	615	probably null	Het
Macf1	T	C	4: 123,291,206 (GRCm39)	E3895G	possibly damaging	Het
Mug1	T	C	6: 121,818,117 (GRCm39)	S143P	probably benign	Het
Nudcd2	A	T	11: 40,624,529 (GRCm39)		probably benign	Het
Nup85	A	G	11: 115,468,759 (GRCm39)	T201A	probably benign	Het
Odad2	A	G	18: 7,127,358 (GRCm39)	F952L	probably damaging	Het
Plvap	A	G	8: 71,960,625 (GRCm39)	S264P	probably benign	Het
Polm	T	C	11: 5,787,906 (GRCm39)		probably benign	Het
Polr2d	T	A	18: 31,928,365 (GRCm39)	H93Q	probably damaging	Het
Ptprt	T	C	2: 162,120,005 (GRCm39)	E154G	probably damaging	Het
Rasal2	C	A	1: 157,071,154 (GRCm39)	G67C	probably damaging	Het
Sdk2	A	G	11: 113,763,683 (GRCm39)	V329A	possibly damaging	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Spef2	A	G	15: 9,601,598 (GRCm39)	S1555P	unknown	Het
Srgap3	A	C	6: 112,793,628 (GRCm39)	L116R	probably damaging	Het
St6galnac3	C	T	3: 153,117,217 (GRCm39)	V169M	probably damaging	Het
Stx16	T	A	2: 173,935,284 (GRCm39)	M206K	possibly damaging	Het
Txnip	A	G	3: 96,466,929 (GRCm39)	D201G	possibly damaging	Het
Ubr4	T	C	4: 139,130,112 (GRCm39)	V718A	probably damaging	Het
Vav3	A	C	3: 109,416,164 (GRCm39)	D261A	probably benign	Het
Vcam1	A	C	3: 115,918,128 (GRCm39)	L278V	possibly damaging	Het
Vta1	C	A	10: 14,543,697 (GRCm39)	A226S	probably damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp777	G	A	6: 48,006,075 (GRCm39)	Q440*	probably null	Het

Other mutations in Plppr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01832:Plppr2	APN	9	21,854,742 (GRCm39)	missense	possibly damaging	0.94
R0630:Plppr2	UTSW	9	21,859,197 (GRCm39)	missense	probably benign	0.39
R1418:Plppr2	UTSW	9	21,859,085 (GRCm39)	missense	possibly damaging	0.77
R1682:Plppr2	UTSW	9	21,855,717 (GRCm39)	missense	possibly damaging	0.93
R1813:Plppr2	UTSW	9	21,859,220 (GRCm39)	missense	probably damaging	0.99
R1830:Plppr2	UTSW	9	21,859,047 (GRCm39)	missense	probably damaging	1.00
R1970:Plppr2	UTSW	9	21,852,422 (GRCm39)	missense	probably damaging	0.99
R4807:Plppr2	UTSW	9	21,855,810 (GRCm39)	missense	probably damaging	1.00
R5192:Plppr2	UTSW	9	21,852,428 (GRCm39)	missense	probably damaging	1.00
R5196:Plppr2	UTSW	9	21,852,428 (GRCm39)	missense	probably damaging	1.00
R5205:Plppr2	UTSW	9	21,852,370 (GRCm39)	missense	probably damaging	0.99
R5568:Plppr2	UTSW	9	21,852,425 (GRCm39)	missense	probably damaging	1.00
R5657:Plppr2	UTSW	9	21,858,911 (GRCm39)	missense	probably damaging	0.96
R6273:Plppr2	UTSW	9	21,855,801 (GRCm39)	missense	probably damaging	1.00
R7138:Plppr2	UTSW	9	21,855,708 (GRCm39)	missense	probably damaging	0.98
R7993:Plppr2	UTSW	9	21,858,258 (GRCm39)	missense	probably damaging	0.97
R8807:Plppr2	UTSW	9	21,855,727 (GRCm39)	small deletion	probably benign
R8808:Plppr2	UTSW	9	21,855,727 (GRCm39)	small deletion	probably benign
R8809:Plppr2	UTSW	9	21,855,727 (GRCm39)	small deletion	probably benign
R9648:Plppr2	UTSW	9	21,852,379 (GRCm39)	missense	probably benign	0.08
R9776:Plppr2	UTSW	9	21,859,107 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTAGCATGTATGAACTCCTTC -3'
(R):5'- TTCCTGGCCTTCAAGTCCAG -3'

Sequencing Primer
(F):5'- TGACCTCACAGCCTCTGAC -3'
(R):5'- TTCAAGTCCAGGGCTCCAC -3'

Posted On

2020-06-30