Mutagenetix > Incidental Mutation

Incidental Mutation 'R5205:Plppr2'

398436

Institutional Source

Beutler Lab

Gene Symbol

Plppr2

Ensembl Gene

ENSMUSG00000040563

Gene Name

phospholipid phosphatase related 2

Synonyms

BC018242, Lppr2, PRG-4

MMRRC Submission

042780-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5205 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21848329-21860203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21852370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 85 (T85S)

Ref Sequence

ENSEMBL: ENSMUSP00000140166 (fasta)

Gene Model

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

AlphaFold

Q8VCY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046371
AA Change: T110S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038616
Gene: ENSMUSG00000040563
AA Change: T110S

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 damaging
Transcript: ENSMUST00000188468
AA Change: T85S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140166
Gene: ENSMUSG00000040563
AA Change: T85S

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: T110S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139727
Gene: ENSMUSG00000040563
AA Change: T110S

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

Meta Mutation Damage Score

0.1714

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	A	18: 59,101,880 (GRCm39)	R650Q	probably damaging	Het
Adgre4	G	T	17: 56,101,727 (GRCm39)	E216*	probably null	Het
Aldh6a1	T	A	12: 84,486,418 (GRCm39)	M167L	probably damaging	Het
Asb16	G	A	11: 102,159,820 (GRCm39)	D58N	probably damaging	Het
Cfap43	C	A	19: 47,885,987 (GRCm39)	L209F	possibly damaging	Het
Cfh	A	G	1: 140,071,708 (GRCm39)	C327R	probably damaging	Het
Chd7	T	A	4: 8,752,509 (GRCm39)	N335K	possibly damaging	Het
Clca3a1	T	C	3: 144,452,545 (GRCm39)	E646G	possibly damaging	Het
Col6a6	A	T	9: 105,659,232 (GRCm39)	V571D	probably damaging	Het
Cttnbp2	T	C	6: 18,427,432 (GRCm39)		probably benign	Het
Dennd1b	T	A	1: 138,982,306 (GRCm39)	S132T	probably benign	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnaaf2	C	T	12: 69,239,698 (GRCm39)	V608I	probably damaging	Het
Edem3	A	T	1: 151,687,270 (GRCm39)	D717V	probably damaging	Het
Fam135a	T	C	1: 24,068,592 (GRCm39)	N589S	probably benign	Het
Gm13991	G	C	2: 116,358,681 (GRCm39)		noncoding transcript	Het
Ighv2-3	T	C	12: 113,574,895 (GRCm39)	S87G	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcna2	T	C	3: 107,004,462 (GRCm39)		probably benign	Het
Klra4	T	A	6: 130,039,080 (GRCm39)	N104I	probably damaging	Het
Lrrc28	A	G	7: 67,181,516 (GRCm39)	S240P	probably benign	Het
Majin	T	C	19: 6,245,789 (GRCm39)	I27T	possibly damaging	Het
Mfhas1	G	A	8: 36,058,161 (GRCm39)	E879K	probably benign	Het
Mif-ps6	A	T	9: 14,756,768 (GRCm39)		noncoding transcript	Het
Msh4	A	G	3: 153,572,049 (GRCm39)	L583P	probably damaging	Het
Nrxn1	A	T	17: 90,471,302 (GRCm39)	N1234K	probably damaging	Het
Or5b120	T	C	19: 13,480,163 (GRCm39)	L152P	probably damaging	Het
Orm1	T	C	4: 63,262,929 (GRCm39)	I32T	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,124 (GRCm39)	W604R	probably benign	Het
Prorp	T	A	12: 55,351,226 (GRCm39)	Y178*	probably null	Het
Prss56	G	T	1: 87,113,256 (GRCm39)	D195Y	probably damaging	Het
Psme4	T	A	11: 30,782,666 (GRCm39)		probably benign	Het
Rbm25	T	A	12: 83,719,643 (GRCm39)	D554E	probably benign	Het
Rbm6	A	G	9: 107,665,542 (GRCm39)	M618T	probably benign	Het
Slc17a5	A	G	9: 78,485,899 (GRCm39)	V62A	probably damaging	Het
Slk	T	A	19: 47,613,899 (GRCm39)	N918K	possibly damaging	Het
Syne1	C	A	10: 5,002,295 (GRCm39)	A8126S	probably benign	Het
Synj2	T	C	17: 5,991,793 (GRCm39)	L23S	probably damaging	Het
Taar2	A	C	10: 23,816,874 (GRCm39)	H138P	probably benign	Het
Taar7b	A	T	10: 23,875,916 (GRCm39)	E27V	probably benign	Het
Tbc1d2b	A	G	9: 90,089,863 (GRCm39)	Y889H	probably damaging	Het
Tmem43	T	C	6: 91,463,763 (GRCm39)	I346T	possibly damaging	Het
Ttc3	T	A	16: 94,248,918 (GRCm39)	C1139S	probably benign	Het
Txndc11	A	G	16: 10,946,529 (GRCm39)	V94A	probably damaging	Het
Ush2a	T	A	1: 188,607,133 (GRCm39)	H4009Q	probably benign	Het
Wnk4	A	G	11: 101,155,964 (GRCm39)	E407G	possibly damaging	Het
Ybx1	G	T	4: 119,136,348 (GRCm39)	D261E	probably damaging	Het
Zfp985	A	T	4: 147,667,368 (GRCm39)	I79F	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ATCTATGCCTTGGTCACTGC -3'
(R):5'- TCCACTGGCCTGAGATTCT -3'

Sequencing Primer
(F):5'- TGGATCACCAGGCTGAATGC -3'
(R):5'- CCACTGGCCTGAGATTCTTTTTAAGG -3'

Posted On

2016-07-06