Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03183:Plpp6'

412331

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plpp6

Ensembl Gene

ENSMUSG00000040105

Gene Name

phospholipid phosphatase 6

Synonyms

Ppapdc2, 4932443D16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03183

Quality Score

Status

Chromosome

Chromosomal Location

28941353-28944211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28942071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 224 (N224S)

Ref Sequence

ENSEMBL: ENSMUSP00000047776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025872] [ENSMUST00000045674] [ENSMUST00000160542] [ENSMUST00000161813] [ENSMUST00000162110] [ENSMUST00000164777] [ENSMUST00000175647]

AlphaFold

Q9D4F2

Predicted Effect

probably benign
Transcript: ENSMUST00000025872

SMART Domains

Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	1	91	1e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045674
AA Change: N224S

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047776
Gene: ENSMUSG00000040105
AA Change: N224S

Domain	Start	End	E-Value	Type
low complexity region	10	34	N/A	INTRINSIC
low complexity region	69	84	N/A	INTRINSIC
acidPPc	161	273	7.73e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160542

SMART Domains

Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	1	77	1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161813

Predicted Effect

probably benign
Transcript: ENSMUST00000162110

SMART Domains

Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	7	145	7.7e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164777

SMART Domains

Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	1	77	1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175647

SMART Domains

Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	6	78	4.5e-22	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh6a1	A	G	12: 84,483,214 (GRCm39)		probably null	Het
Ano2	A	T	6: 125,687,592 (GRCm39)	K32N	probably benign	Het
Asic1	A	G	15: 99,569,898 (GRCm39)	H73R	probably benign	Het
B3glct	A	G	5: 149,677,607 (GRCm39)	D412G	probably damaging	Het
Baz2b	T	C	2: 59,733,640 (GRCm39)	I1891V	probably benign	Het
Cc2d2a	A	G	5: 43,889,721 (GRCm39)	E1278G	probably damaging	Het
Ccdc116	T	C	16: 16,960,718 (GRCm39)	E33G	probably benign	Het
Celf4	T	A	18: 25,670,796 (GRCm39)	Q129L	probably benign	Het
Celf4	G	T	18: 25,670,797 (GRCm39)	Q129K	probably benign	Het
Cfap251	A	G	5: 123,392,682 (GRCm39)		probably benign	Het
Col18a1	A	G	10: 76,909,588 (GRCm39)	S817P	probably damaging	Het
Corin	A	G	5: 72,458,929 (GRCm39)	V940A	probably damaging	Het
Dlgap2	A	T	8: 14,777,525 (GRCm39)	N257Y	possibly damaging	Het
Dnah2	C	A	11: 69,349,314 (GRCm39)	V2441L	possibly damaging	Het
Evpl	C	T	11: 116,112,438 (GRCm39)	E1751K	probably damaging	Het
Fat1	G	A	8: 45,403,623 (GRCm39)	E125K	probably damaging	Het
Fras1	A	T	5: 96,881,640 (GRCm39)		probably benign	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
G3bp2	A	C	5: 92,202,905 (GRCm39)	M362R	possibly damaging	Het
Grk5	T	C	19: 61,057,774 (GRCm39)	F158S	probably damaging	Het
Hmbox1	G	T	14: 65,125,048 (GRCm39)	Q188K	probably damaging	Het
Ift172	A	T	5: 31,429,348 (GRCm39)	D604E	probably benign	Het
Igkv6-32	T	A	6: 70,051,556 (GRCm39)	T5S	probably benign	Het
Impa1	A	G	3: 10,388,054 (GRCm39)	Y123H	probably damaging	Het
Itgb4	C	T	11: 115,879,550 (GRCm39)	T612M	probably damaging	Het
Med12l	T	A	3: 58,944,976 (GRCm39)		probably null	Het
Meis2	A	G	2: 115,890,002 (GRCm39)	L160S	probably damaging	Het
Micu1	C	T	10: 59,563,870 (GRCm39)	R31*	probably null	Het
Nlrp9a	G	T	7: 26,256,882 (GRCm39)	A167S	probably damaging	Het
Or10j27	A	G	1: 172,958,425 (GRCm39)	Y120H	probably damaging	Het
Or4d10	A	T	19: 12,051,392 (GRCm39)	N201K	probably damaging	Het
Sdk2	T	A	11: 113,741,810 (GRCm39)	H803L	probably benign	Het
Shld2	T	C	14: 33,967,143 (GRCm39)	T690A	probably benign	Het
Slc36a1	T	A	11: 55,119,017 (GRCm39)	Y331N	probably damaging	Het
Spata31d1c	A	T	13: 65,183,009 (GRCm39)	I184F	possibly damaging	Het
Stat3	T	C	11: 100,793,582 (GRCm39)	I338V	possibly damaging	Het
Stk10	T	A	11: 32,554,143 (GRCm39)	V610E	possibly damaging	Het
Syna	A	G	5: 134,587,144 (GRCm39)	S602P	probably benign	Het
Tap2	T	A	17: 34,424,399 (GRCm39)		probably benign	Het
Tln1	T	C	4: 43,539,084 (GRCm39)		probably benign	Het
Tra2b	C	A	16: 22,073,303 (GRCm39)		probably benign	Het
Ttc7b	T	C	12: 100,339,968 (GRCm39)		probably null	Het
Vmn2r121	G	A	X: 123,042,023 (GRCm39)	T378I	probably benign	Het
Wdr1	A	T	5: 38,690,825 (GRCm39)		probably null	Het

Other mutations in Plpp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:Plpp6	APN	19	28,942,279 (GRCm39)	makesense	probably null
R0031:Plpp6	UTSW	19	28,942,243 (GRCm39)	missense	probably benign	0.37
R1570:Plpp6	UTSW	19	28,942,178 (GRCm39)	missense	probably damaging	1.00
R1846:Plpp6	UTSW	19	28,941,680 (GRCm39)	missense	probably benign	0.10
R1871:Plpp6	UTSW	19	28,941,684 (GRCm39)	missense	probably damaging	1.00
R2291:Plpp6	UTSW	19	28,941,720 (GRCm39)	missense	probably damaging	1.00
R5503:Plpp6	UTSW	19	28,942,146 (GRCm39)	missense	probably damaging	0.99
R7304:Plpp6	UTSW	19	28,941,617 (GRCm39)	missense	probably benign
R8090:Plpp6	UTSW	19	28,942,271 (GRCm39)	nonsense	probably null
R8109:Plpp6	UTSW	19	28,941,891 (GRCm39)	missense	possibly damaging	0.62

Posted On

2016-08-02