Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00780:Plpp1'

13104

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plpp1

Ensembl Gene

ENSMUSG00000021759

Gene Name

phospholipid phosphatase 1

Synonyms

Hpic53, LPP-1, mPAP, Ppap2a, LPP1, Lipid phosphate phosphatase 1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

112937326-113004428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112988040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 54 (I54M)

Ref Sequence

ENSEMBL: ENSMUSP00000064423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016144] [ENSMUST00000070951]

AlphaFold

Q61469

Predicted Effect

probably benign
Transcript: ENSMUST00000016144

SMART Domains

Protein: ENSMUSP00000016144
Gene: ENSMUSG00000021759

Domain	Start	End	E-Value	Type
Blast:acidPPc	5	61	1e-14	BLAST
acidPPc	103	244	4.28e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000070951
AA Change: I54M

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

SMART Domains

Protein: ENSMUSP00000064423
Gene: ENSMUSG00000021759
AA Change: I54M

Domain	Start	End	E-Value	Type
Blast:acidPPc	5	72	5e-38	BLAST
acidPPc	102	243	4.28e-45	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic allele are viable and fertile with elevated plasma levels of lysophosphatidic acid. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,423,168 (GRCm39)	D440G	probably null	Het
Acvrl1	T	A	15: 101,035,248 (GRCm39)	F258Y	probably damaging	Het
Ano1	A	G	7: 144,209,367 (GRCm39)	S278P	probably damaging	Het
Aoc1l3	A	G	6: 48,964,673 (GRCm39)	D227G	probably damaging	Het
AW146154	T	C	7: 41,129,883 (GRCm39)	Y411C	probably damaging	Het
Blnk	T	A	19: 40,922,890 (GRCm39)	K412M	probably benign	Het
Clpb	C	T	7: 101,427,815 (GRCm39)	R387*	probably null	Het
Dach1	A	T	14: 98,138,858 (GRCm39)	N528K	possibly damaging	Het
Dag1	A	T	9: 108,086,818 (GRCm39)	W108R	probably damaging	Het
Elapor2	A	G	5: 9,472,367 (GRCm39)	T355A	probably damaging	Het
Fbn2	T	C	18: 58,229,060 (GRCm39)	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,342,898 (GRCm39)	D394G	possibly damaging	Het
Gaa	T	A	11: 119,165,117 (GRCm39)		probably null	Het
Gpr158	A	T	2: 21,831,629 (GRCm39)	K910*	probably null	Het
Grb14	G	A	2: 64,745,062 (GRCm39)	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,615,729 (GRCm39)	D264G	probably benign	Het
Heatr3	A	G	8: 88,897,568 (GRCm39)	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,880,490 (GRCm39)	N407S	probably damaging	Het
Htr2a	A	T	14: 74,943,645 (GRCm39)	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,705,345 (GRCm39)	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,516,049 (GRCm39)	T2598I	probably benign	Het
Lcorl	T	C	5: 45,904,637 (GRCm39)	N137S	probably damaging	Het
Lef1	T	C	3: 130,986,779 (GRCm39)	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,188,359 (GRCm39)		probably benign	Het
Med15	G	A	16: 17,471,351 (GRCm39)	T642I	probably damaging	Het
Nasp	C	A	4: 116,461,196 (GRCm39)	E274*	probably null	Het
Nup210l	A	T	3: 90,098,156 (GRCm39)		probably benign	Het
Pgghg	T	C	7: 140,525,264 (GRCm39)		probably null	Het
Poldip3	C	T	15: 83,022,680 (GRCm39)	G35R	probably damaging	Het
Ppig	A	T	2: 69,563,268 (GRCm39)	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,646,630 (GRCm39)	T999K	probably damaging	Het
Rad9b	T	C	5: 122,482,310 (GRCm39)	I142V	probably benign	Het
Ralgps1	A	T	2: 33,163,639 (GRCm39)	H139Q	probably damaging	Het
Rdh16f2	T	C	10: 127,710,961 (GRCm39)		probably null	Het
Sema3d	G	A	5: 12,574,293 (GRCm39)	R265Q	probably damaging	Het
Tdp1	T	C	12: 99,859,907 (GRCm39)	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,723,909 (GRCm39)	D145V	probably benign	Het
Trpc4	C	T	3: 54,209,596 (GRCm39)	P654S	probably damaging	Het
Yy1	T	G	12: 108,781,463 (GRCm39)	I376S	probably damaging	Het
Zfp773	T	A	7: 7,136,113 (GRCm39)	Q161L	probably benign	Het

Other mutations in Plpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02139:Plpp1	APN	13	112,993,433 (GRCm39)	missense	probably benign	0.09
IGL02269:Plpp1	APN	13	112,993,526 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Plpp1	UTSW	13	112,993,419 (GRCm39)	missense	probably damaging	1.00
R0550:Plpp1	UTSW	13	112,971,519 (GRCm39)	missense	probably benign	0.02
R1301:Plpp1	UTSW	13	112,971,477 (GRCm39)	missense	probably damaging	1.00
R1473:Plpp1	UTSW	13	112,996,198 (GRCm39)	missense	probably damaging	1.00
R5224:Plpp1	UTSW	13	112,988,046 (GRCm39)	nonsense	probably null
R5306:Plpp1	UTSW	13	112,988,089 (GRCm39)	critical splice donor site	probably null
R6108:Plpp1	UTSW	13	113,003,399 (GRCm39)	missense	possibly damaging	0.93
R6111:Plpp1	UTSW	13	113,003,451 (GRCm39)	missense	probably damaging	1.00
R6500:Plpp1	UTSW	13	113,003,454 (GRCm39)	missense	probably damaging	1.00
R7520:Plpp1	UTSW	13	112,937,781 (GRCm39)	missense	possibly damaging	0.89
R7716:Plpp1	UTSW	13	112,996,186 (GRCm39)	missense	probably damaging	1.00
R7716:Plpp1	UTSW	13	112,993,323 (GRCm39)	missense	probably benign	0.27
R8080:Plpp1	UTSW	13	113,004,002 (GRCm39)	missense	probably benign	0.19
R8209:Plpp1	UTSW	13	113,003,465 (GRCm39)	missense	probably benign	0.44
R8226:Plpp1	UTSW	13	113,003,465 (GRCm39)	missense	probably benign	0.44
R8514:Plpp1	UTSW	13	112,971,462 (GRCm39)	missense	probably damaging	1.00
R8924:Plpp1	UTSW	13	112,943,057 (GRCm39)	intron	probably benign
R8948:Plpp1	UTSW	13	112,993,511 (GRCm39)	missense	probably damaging	0.98
R9130:Plpp1	UTSW	13	112,988,038 (GRCm39)	missense

Posted On

2012-12-06