Mutagenetix > Incidental Mutation

Incidental Mutation 'R4009:Plpp5'

311604

Institutional Source

Beutler Lab

Gene Symbol

Plpp5

Ensembl Gene

ENSMUSG00000031570

Gene Name

phospholipid phosphatase 5

Synonyms

2310022A04Rik, Ppapdc1b, 1810019D05Rik

MMRRC Submission

040846-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R4009 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26210064-26214914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26210338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 36 (E36G)

Ref Sequence

ENSEMBL: ENSMUSP00000122437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068916] [ENSMUST00000084026] [ENSMUST00000124764] [ENSMUST00000133117] [ENSMUST00000138548] [ENSMUST00000139836] [ENSMUST00000145678] [ENSMUST00000210629] [ENSMUST00000142395]

AlphaFold

Q3UMZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000068916
AA Change: E36G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067035
Gene: ENSMUSG00000031570
AA Change: E36G

Domain	Start	End	E-Value	Type
acidPPc	85	224	3.08e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084026

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823

Domain	Start	End	E-Value	Type
low complexity region	128	151	N/A	INTRINSIC
low complexity region	193	225	N/A	INTRINSIC
PWWP	278	341	1.6e-12	SMART
low complexity region	680	701	N/A	INTRINSIC
PHD	713	756	4.49e-7	SMART
PHD	761	808	5.82e-1	SMART
PHD	809	861	3.06e0	SMART
PHD	874	963	1e-4	SMART
PWWP	968	1030	8.62e-18	SMART
AWS	1103	1154	2.61e-17	SMART
SET	1155	1278	2.17e-41	SMART
PostSET	1279	1295	2.63e-3	SMART
low complexity region	1309	1326	N/A	INTRINSIC
PHD	1332	1375	4.32e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124764
AA Change: E36G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000133117
AA Change: E36G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000138548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139120

Predicted Effect

probably damaging
Transcript: ENSMUST00000139836
AA Change: E36G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122437
Gene: ENSMUSG00000031570
AA Change: E36G

Domain	Start	End	E-Value	Type
acidPPc	85	214	3.98e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145678
AA Change: E36G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146762

Predicted Effect

probably benign
Transcript: ENSMUST00000210629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209843

Predicted Effect

probably benign
Transcript: ENSMUST00000142395

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823

Domain	Start	End	E-Value	Type
low complexity region	128	151	N/A	INTRINSIC
low complexity region	193	225	N/A	INTRINSIC
PWWP	278	341	1.6e-12	SMART
low complexity region	680	701	N/A	INTRINSIC
PHD	713	756	4.49e-7	SMART
PHD	761	808	5.82e-1	SMART
PHD	809	861	3.06e0	SMART
PHD	874	963	1e-4	SMART
PWWP	968	1030	8.62e-18	SMART
AWS	1103	1154	2.61e-17	SMART
SET	1155	1278	2.17e-41	SMART
PostSET	1279	1295	2.63e-3	SMART
low complexity region	1309	1326	N/A	INTRINSIC
PHD	1332	1375	4.32e-9	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,980,933 (GRCm39)	L35Q	probably damaging	Het
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Apc2	T	A	10: 80,149,426 (GRCm39)	D1464E	probably benign	Het
Atp8a2	A	G	14: 60,265,434 (GRCm39)	S301P	possibly damaging	Het
Cntln	A	G	4: 84,981,452 (GRCm39)	T877A	probably benign	Het
Cntn6	T	C	6: 104,810,783 (GRCm39)	I537T	probably damaging	Het
Cyp2d12	T	G	15: 82,440,493 (GRCm39)	L94R	probably damaging	Het
Dnah7a	A	G	1: 53,564,164 (GRCm39)	L1965P	probably damaging	Het
Dock10	T	C	1: 80,510,148 (GRCm39)	N1560S	probably damaging	Het
F830045P16Rik	A	T	2: 129,305,467 (GRCm39)	N302K	probably damaging	Het
Fxr1	G	T	3: 34,119,171 (GRCm39)	R580L	probably benign	Het
Gm5592	G	T	7: 40,938,934 (GRCm39)	V739L	probably benign	Het
Gna13	A	G	11: 109,286,843 (GRCm39)	D222G	probably damaging	Het
Grm7	T	A	6: 111,472,683 (GRCm39)	Y841N	probably damaging	Het
Kat2b	G	A	17: 53,951,769 (GRCm39)		probably null	Het
Kcng4	A	G	8: 120,352,824 (GRCm39)	V362A	probably damaging	Het
Kcnh1	T	A	1: 191,959,448 (GRCm39)	I334N	probably benign	Het
Mapkbp1	T	C	2: 119,854,086 (GRCm39)	S1222P	probably benign	Het
Or10a3m	A	T	7: 108,313,366 (GRCm39)	I269L	probably benign	Het
Or10ag57	A	T	2: 87,218,924 (GRCm39)	I292F	possibly damaging	Het
Or11g26	T	C	14: 50,753,419 (GRCm39)	S253P	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Pik3cb	A	G	9: 98,922,982 (GRCm39)	Y1017H	probably damaging	Het
Pnma8a	A	T	7: 16,695,301 (GRCm39)	K385N	probably damaging	Het
Ptprd	T	G	4: 75,874,634 (GRCm39)	M1272L	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,052 (GRCm39)	I325V	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint4	T	C	4: 111,977,306 (GRCm39)	V232A	possibly damaging	Het
Slc30a5	G	A	13: 100,945,741 (GRCm39)	A537V	probably damaging	Het
Tcerg1	CAATTGAAAA	CAA	18: 42,697,201 (GRCm39)		probably null	Het
Tenm3	C	A	8: 48,802,258 (GRCm39)	K162N	probably damaging	Het
Vmn2r44	T	A	7: 8,380,987 (GRCm39)	Q302L	possibly damaging	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	Het

Other mutations in Plpp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Plpp5	APN	8	26,210,585 (GRCm39)	missense	probably damaging	0.99
IGL01588:Plpp5	APN	8	26,214,195 (GRCm39)	missense	probably damaging	0.99
IGL02539:Plpp5	APN	8	26,214,215 (GRCm39)	missense	probably benign
IGL02807:Plpp5	APN	8	26,211,192 (GRCm39)	splice site	probably benign
R0362:Plpp5	UTSW	8	26,214,219 (GRCm39)	missense	probably benign	0.00
R1626:Plpp5	UTSW	8	26,212,604 (GRCm39)	missense	possibly damaging	0.73
R4030:Plpp5	UTSW	8	26,210,631 (GRCm39)	missense	probably damaging	0.98
R7178:Plpp5	UTSW	8	26,210,606 (GRCm39)	missense	probably benign	0.32
R7529:Plpp5	UTSW	8	26,214,233 (GRCm39)	missense	probably benign	0.00
R9075:Plpp5	UTSW	8	26,210,379 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAATTTCCTGTAGCCCGGAG -3'
(R):5'- AAGATCGGGGCTCAGATTGC -3'

Sequencing Primer
(F):5'- TCTGATCCGCACGTATGGC -3'
(R):5'- GCTCAGATTGCCCACCAG -3'

Posted On

2015-04-29