Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00885:Plpp4'

27741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plpp4

Ensembl Gene

ENSMUSG00000070366

Gene Name

phospholipid phosphatase 4

Synonyms

C030048B12Rik, LOC381925, Ppapdc1a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL00885

Quality Score

Status

Chromosome

Chromosomal Location

128858755-128993136 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128923257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 101 (I101F)

Ref Sequence

ENSEMBL: ENSMUSP00000145944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094018] [ENSMUST00000205630] [ENSMUST00000205896]

AlphaFold

Q0VBU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094018
AA Change: I101F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091557
Gene: ENSMUSG00000070366
AA Change: I101F

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
acidPPc	83	222	2.39e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000205630
AA Change: I101F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000205896
AA Change: I101F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206551

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	A	T	17: 43,025,206 (GRCm39)		probably benign	Het
Adora2a	T	G	10: 75,169,285 (GRCm39)	F250V	probably damaging	Het
Atp8b5	T	C	4: 43,355,567 (GRCm39)	S516P	probably damaging	Het
Btbd16	A	G	7: 130,390,552 (GRCm39)	I150V	probably damaging	Het
Capn13	A	T	17: 73,646,420 (GRCm39)	I331N	possibly damaging	Het
Capzb	A	G	4: 139,014,361 (GRCm39)	S233G	probably benign	Het
Clasp2	A	G	9: 113,740,484 (GRCm39)	R1171G	probably damaging	Het
Col16a1	T	G	4: 129,990,703 (GRCm39)	I1419S	probably damaging	Het
Coro7	T	A	16: 4,452,890 (GRCm39)	Y286F	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Cyp11b2	T	C	15: 74,725,364 (GRCm39)	T252A	probably benign	Het
Daam1	T	A	12: 71,990,865 (GRCm39)	C160S	unknown	Het
Ephx4	T	C	5: 107,553,991 (GRCm39)		probably benign	Het
Fbxo47	A	T	11: 97,768,946 (GRCm39)	D63E	probably benign	Het
Fgf3	A	T	7: 144,394,521 (GRCm39)		probably benign	Het
Fstl4	C	T	11: 53,039,809 (GRCm39)	T331I	possibly damaging	Het
Gpr158	T	C	2: 21,653,832 (GRCm39)	F467S	probably damaging	Het
Igfbpl1	C	T	4: 45,826,478 (GRCm39)	V106I	probably damaging	Het
Ikzf2	T	C	1: 69,578,481 (GRCm39)	T271A	possibly damaging	Het
Kat14	T	A	2: 144,236,175 (GRCm39)	N302K	probably benign	Het
Kmt2c	G	T	5: 25,614,169 (GRCm39)	Q184K	possibly damaging	Het
Moxd2	A	G	6: 40,861,113 (GRCm39)		probably benign	Het
Nbeal2	C	A	9: 110,467,729 (GRCm39)	E479D	probably damaging	Het
Neo1	A	G	9: 58,795,746 (GRCm39)	L1231P	probably damaging	Het
Nfatc3	C	T	8: 106,825,809 (GRCm39)	P620L	probably damaging	Het
Nol9	T	C	4: 152,126,057 (GRCm39)	F253L	probably damaging	Het
Nutm2	T	A	13: 50,628,896 (GRCm39)	S653R	probably benign	Het
Or2n1e	A	C	17: 38,585,790 (GRCm39)	I43L	probably benign	Het
Or9i16	A	T	19: 13,865,532 (GRCm39)	M14K	probably benign	Het
Plcg1	A	G	2: 160,600,003 (GRCm39)	D921G	probably benign	Het
Psg17	A	T	7: 18,554,091 (GRCm39)	L53Q	probably damaging	Het
Ptpn4	A	T	1: 119,730,093 (GRCm39)	I20N	possibly damaging	Het
R3hdm1	A	T	1: 128,164,175 (GRCm39)	I1030L	probably damaging	Het
Rpl7	A	C	1: 16,172,807 (GRCm39)	S171A	possibly damaging	Het
Snx25	G	A	8: 46,491,513 (GRCm39)	T859M	probably damaging	Het
Spata31e5	T	C	1: 28,815,926 (GRCm39)	E702G	unknown	Het
Tmem94	A	G	11: 115,686,154 (GRCm39)	M990V	probably damaging	Het
Tnnt2	A	G	1: 135,774,502 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,540,029 (GRCm39)	H34319R	possibly damaging	Het
Vmn1r72	A	G	7: 11,404,424 (GRCm39)	V8A	probably benign	Het
Zbtb41	A	G	1: 139,358,062 (GRCm39)	T457A	probably benign	Het

Other mutations in Plpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Plpp4	APN	7	128,918,023 (GRCm39)	missense	probably damaging	1.00
R0016:Plpp4	UTSW	7	128,925,148 (GRCm39)	missense	probably damaging	1.00
R0369:Plpp4	UTSW	7	128,925,190 (GRCm39)	missense	probably damaging	1.00
R2149:Plpp4	UTSW	7	128,981,095 (GRCm39)	missense	probably benign	0.08
R4290:Plpp4	UTSW	7	128,909,356 (GRCm39)	missense	probably damaging	1.00
R4293:Plpp4	UTSW	7	128,909,356 (GRCm39)	missense	probably damaging	1.00
R4295:Plpp4	UTSW	7	128,909,356 (GRCm39)	missense	probably damaging	1.00
R4439:Plpp4	UTSW	7	128,858,813 (GRCm39)	start gained	probably benign
R5185:Plpp4	UTSW	7	128,918,028 (GRCm39)	missense	probably damaging	1.00
R6984:Plpp4	UTSW	7	128,992,616 (GRCm39)	missense	possibly damaging	0.76
R7122:Plpp4	UTSW	7	128,981,207 (GRCm39)	missense	unknown
R8048:Plpp4	UTSW	7	128,981,201 (GRCm39)	missense	unknown
R8854:Plpp4	UTSW	7	128,909,362 (GRCm39)	nonsense	probably null
R8926:Plpp4	UTSW	7	128,923,211 (GRCm39)	critical splice acceptor site	probably null
R8994:Plpp4	UTSW	7	128,981,157 (GRCm39)	missense	probably damaging	0.99
R9575:Plpp4	UTSW	7	128,925,211 (GRCm39)	missense	probably benign	0.06
Z1177:Plpp4	UTSW	7	128,981,201 (GRCm39)	missense	unknown

Posted On

2013-04-17