Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01832:Plppr2'

154822

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plppr2

Ensembl Gene

ENSMUSG00000040563

Gene Name

phospholipid phosphatase related 2

Synonyms

BC018242, Lppr2, PRG-4

Accession Numbers

Essential gene?

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

Stock #

IGL01832

Quality Score

Status

Chromosome

Chromosomal Location

21848329-21860203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21854742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 138 (R138S)

Ref Sequence

ENSEMBL: ENSMUSP00000140166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046371] [ENSMUST00000188468] [ENSMUST00000190387]

AlphaFold

Q8VCY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046371
AA Change: R163S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038616
Gene: ENSMUSG00000040563
AA Change: R163S

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

possibly damaging
Transcript: ENSMUST00000188468
AA Change: R138S

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140166
Gene: ENSMUSG00000040563
AA Change: R138S

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

possibly damaging
Transcript: ENSMUST00000190387
AA Change: R163S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139727
Gene: ENSMUSG00000040563
AA Change: R163S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,985,758 (GRCm39)	T681I	probably benign	Het
Atg4b	T	C	1: 93,713,626 (GRCm39)		probably benign	Het
Atp10b	T	A	11: 43,125,262 (GRCm39)	M1076K	probably damaging	Het
Atp23	A	T	10: 126,730,214 (GRCm39)	N111K	probably damaging	Het
Atxn2	C	A	5: 121,944,331 (GRCm39)	Y72*	probably null	Het
C1qtnf12	A	G	4: 156,050,323 (GRCm39)	D220G	probably damaging	Het
C2cd3	A	T	7: 100,076,421 (GRCm39)	T1171S	possibly damaging	Het
Ccdc15	G	A	9: 37,222,640 (GRCm39)	R585W	probably damaging	Het
Cep152	A	C	2: 125,460,414 (GRCm39)	Y179*	probably null	Het
Cpa2	T	C	6: 30,551,998 (GRCm39)	S242P	probably benign	Het
Ctps2	G	T	X: 161,719,699 (GRCm39)		probably benign	Het
Cttnbp2nl	A	G	3: 104,918,544 (GRCm39)	S99P	probably damaging	Het
Ddx20	A	G	3: 105,586,327 (GRCm39)	S673P	probably damaging	Het
Erbb4	T	C	1: 68,293,725 (GRCm39)	K722R	possibly damaging	Het
Ercc8	A	G	13: 108,305,993 (GRCm39)	T123A	probably damaging	Het
Ermard	T	C	17: 15,280,111 (GRCm39)	V87A	probably damaging	Het
Fkbp8	A	G	8: 70,984,195 (GRCm39)	H182R	probably benign	Het
Gab2	T	C	7: 96,953,445 (GRCm39)	L606P	probably damaging	Het
Gls	C	T	1: 52,207,568 (GRCm39)		probably null	Het
Hook3	A	T	8: 26,562,393 (GRCm39)	M224K	possibly damaging	Het
Itga5	T	A	15: 103,264,376 (GRCm39)	K298*	probably null	Het
Itprid2	G	A	2: 79,481,762 (GRCm39)	V481M	possibly damaging	Het
Lrrc74a	C	A	12: 86,808,488 (GRCm39)	T422K	probably benign	Het
Myh9	A	C	15: 77,675,953 (GRCm39)	D244E	probably benign	Het
Ndrg4	A	G	8: 96,439,947 (GRCm39)	E349G	probably damaging	Het
Or9m2	T	A	2: 87,820,513 (GRCm39)	D19E	probably benign	Het
Otop2	T	C	11: 115,217,769 (GRCm39)	S202P	probably benign	Het
Prkaca	A	C	8: 84,717,366 (GRCm39)	K206N	probably damaging	Het
Ptpro	C	T	6: 137,370,666 (GRCm39)	T589I	possibly damaging	Het
Ptprq	A	G	10: 107,401,700 (GRCm39)		probably null	Het
Slc16a5	T	C	11: 115,355,827 (GRCm39)	V96A	probably benign	Het
Tcerg1	A	G	18: 42,707,620 (GRCm39)	K1047E	probably damaging	Het
Tinag	T	C	9: 76,939,038 (GRCm39)	K147E	probably benign	Het
Urgcp	T	C	11: 5,667,325 (GRCm39)	T338A	probably damaging	Het
Wdr74	C	T	19: 8,717,302 (GRCm39)	R299C	probably damaging	Het
Zzef1	C	T	11: 72,765,892 (GRCm39)	S1473L	probably damaging	Het

Other mutations in Plppr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8151:Plppr2	UTSW	9	21,852,105 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-02-04