Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01588:Plpp5'

91505

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plpp5

Ensembl Gene

ENSMUSG00000031570

Gene Name

phospholipid phosphatase 5

Synonyms

2310022A04Rik, Ppapdc1b, 1810019D05Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01588

Quality Score

Status

Chromosome

Chromosomal Location

26210064-26214914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26214195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 237 (H237Q)

Ref Sequence

ENSEMBL: ENSMUSP00000067035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033975] [ENSMUST00000068916] [ENSMUST00000084026] [ENSMUST00000124764] [ENSMUST00000133117] [ENSMUST00000138548] [ENSMUST00000210629] [ENSMUST00000211688] [ENSMUST00000139836] [ENSMUST00000145678] [ENSMUST00000142395]

AlphaFold

Q3UMZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000033975

SMART Domains

Protein: ENSMUSP00000033975
Gene: ENSMUSG00000061313

Domain	Start	End	E-Value	Type
low complexity region	12	25	N/A	INTRINSIC
Pfam:WWE	40	112	7.5e-9	PFAM
Blast:DDHD	285	357	6e-28	BLAST
SAM	382	447	1.13e-11	SMART
DDHD	484	688	6.63e-75	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000068916
AA Change: H237Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067035
Gene: ENSMUSG00000031570
AA Change: H237Q

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

probably benign
Transcript: ENSMUST00000124764

Predicted Effect

probably benign
Transcript: ENSMUST00000133117

Predicted Effect

probably benign
Transcript: ENSMUST00000138548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138879

Predicted Effect

probably benign
Transcript: ENSMUST00000210629

Predicted Effect

probably benign
Transcript: ENSMUST00000211688

Predicted Effect

probably benign
Transcript: ENSMUST00000210777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139120

Predicted Effect

probably benign
Transcript: ENSMUST00000139836

SMART Domains

Protein: ENSMUSP00000122437
Gene: ENSMUSG00000031570

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145678

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	A	1: 139,405,900 (GRCm39)	S1596T	probably benign	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Csn2	T	C	5: 87,842,508 (GRCm39)	H165R	probably benign	Het
Dido1	A	G	2: 180,330,668 (GRCm39)	V260A	probably benign	Het
Ece1	C	T	4: 137,684,517 (GRCm39)		probably benign	Het
Garem1	T	G	18: 21,262,854 (GRCm39)	R653S	probably damaging	Het
Gpatch2	A	T	1: 186,962,991 (GRCm39)	S261C	probably damaging	Het
Ing4	A	G	6: 125,020,949 (GRCm39)	N24D	possibly damaging	Het
Klhdc7a	A	T	4: 139,694,257 (GRCm39)	V230D	probably damaging	Het
Ly96	G	A	1: 16,779,678 (GRCm39)	V116I	probably benign	Het
Myom1	C	T	17: 71,424,432 (GRCm39)	T1427M	possibly damaging	Het
Nedd1	C	A	10: 92,522,124 (GRCm39)	V638L	probably benign	Het
Or52d3	C	T	7: 104,229,150 (GRCm39)	S99F	probably damaging	Het
Or5d35	T	C	2: 87,855,417 (GRCm39)	V117A	probably benign	Het
Or8g30	G	A	9: 39,230,128 (GRCm39)	Q261*	probably null	Het
Pbx2	T	C	17: 34,814,592 (GRCm39)		probably benign	Het
Phlpp1	A	T	1: 106,308,119 (GRCm39)	H1132L	probably damaging	Het
Stard13	C	T	5: 150,968,702 (GRCm39)	R856H	probably damaging	Het
Sult1e1	T	C	5: 87,724,102 (GRCm39)	K285R	probably benign	Het
Ubxn8	C	T	8: 34,111,587 (GRCm39)	V269M	probably damaging	Het
Usp29	A	T	7: 6,965,610 (GRCm39)	K484N	probably benign	Het
Whrn	C	T	4: 63,391,015 (GRCm39)	V80M	probably damaging	Het
Znhit6	A	G	3: 145,301,962 (GRCm39)		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
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
R4009:Plpp5	UTSW	8	26,210,338 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-09