Mutagenetix > Incidental Mutation

Incidental Mutation 'R0031:Plpp6'

15246

Institutional Source

Beutler Lab

Gene Symbol

Plpp6

Ensembl Gene

ENSMUSG00000040105

Gene Name

phospholipid phosphatase 6

Synonyms

Ppapdc2, 4932443D16Rik

MMRRC Submission

038325-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0031 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

28941353-28944211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28942243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 281 (N281K)

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

probably benign
Transcript: ENSMUST00000045674
AA Change: N281K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047776
Gene: ENSMUSG00000040105
AA Change: N281K

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

Meta Mutation Damage Score

0.1849

Coding Region Coverage

1x: 81.0%
3x: 73.5%
10x: 52.2%
20x: 32.1%

Validation Efficiency

93% (95/102)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	G	A	2: 69,115,652 (GRCm39)	R571C	probably damaging	Het
Agr3	T	C	12: 35,997,590 (GRCm39)	M100T	probably benign	Het
Ankrd7	T	A	6: 18,870,007 (GRCm39)	Y253*	probably null	Het
Atp2c2	A	T	8: 120,475,801 (GRCm39)	T565S	probably benign	Het
Ccdc88b	G	T	19: 6,831,151 (GRCm39)	S597Y	possibly damaging	Het
Celsr2	T	C	3: 108,320,379 (GRCm39)	N811S	probably damaging	Het
Cep170	A	T	1: 176,583,657 (GRCm39)	D907E	probably damaging	Het
Cip2a	C	T	16: 48,837,736 (GRCm39)	S812F	probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Cmss1	T	G	16: 57,131,612 (GRCm39)		probably null	Het
Cobl	T	C	11: 12,204,945 (GRCm39)	T579A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Csrp2	C	T	10: 110,774,601 (GRCm39)	S172L	probably benign	Het
Fip1l1	T	C	5: 74,717,770 (GRCm39)	S235P	probably damaging	Het
Gbgt1	T	A	2: 28,388,462 (GRCm39)		probably benign	Het
Gml2	T	C	15: 74,696,125 (GRCm39)	I173T	probably benign	Het
Gucy2c	T	A	6: 136,674,997 (GRCm39)	I1005F	probably damaging	Het
Irak3	T	A	10: 120,012,225 (GRCm39)	K88*	probably null	Het
Klc1	T	C	12: 111,743,467 (GRCm39)	Y265H	probably damaging	Het
Lamb1	G	A	12: 31,351,155 (GRCm39)	V754I	probably benign	Het
Lrguk	A	T	6: 34,020,431 (GRCm39)	Q58H	probably damaging	Het
Lyst	A	G	13: 13,882,741 (GRCm39)	D2902G	probably benign	Het
Mtpap	T	A	18: 4,383,244 (GRCm39)	I207N	probably damaging	Het
Ncdn	A	T	4: 126,643,901 (GRCm39)		probably null	Het
Nup160	A	G	2: 90,547,931 (GRCm39)		probably null	Het
Ormdl1	A	G	1: 53,338,318 (GRCm39)		probably benign	Het
Pde5a	A	G	3: 122,596,704 (GRCm39)	M432V	probably benign	Het
Pikfyve	T	A	1: 65,255,088 (GRCm39)		probably benign	Het
Plcb2	A	G	2: 118,545,942 (GRCm39)	V581A	probably benign	Het
Pwp1	T	C	10: 85,721,760 (GRCm39)	I422T	probably benign	Het
Rims1	T	C	1: 22,367,103 (GRCm39)	N1199S	probably damaging	Het
Sema3c	T	C	5: 17,899,726 (GRCm39)	L406P	probably damaging	Het
Senp6	C	T	9: 80,033,525 (GRCm39)	P84L	probably damaging	Het
Setx	A	G	2: 29,066,941 (GRCm39)	I2361V	probably benign	Het
Slc25a12	C	T	2: 71,163,958 (GRCm39)	V106M	possibly damaging	Het
Slc3a1	A	G	17: 85,340,274 (GRCm39)	Y232C	probably damaging	Het
Spata31g1	A	T	4: 42,973,712 (GRCm39)	K1015M	probably damaging	Het
Taf1c	A	T	8: 120,325,829 (GRCm39)	C678S	probably benign	Het
Tcp11l2	G	T	10: 84,427,004 (GRCm39)	C156F	probably damaging	Het
Tmem62	A	G	2: 120,829,594 (GRCm39)	T316A	probably benign	Het
Ulk4	A	G	9: 121,102,048 (GRCm39)	I10T	probably damaging	Het
Vps54	T	C	11: 21,262,899 (GRCm39)	I824T	probably damaging	Het
Wdfy3	A	T	5: 102,037,161 (GRCm39)	V2042E	probably damaging	Het
Wfdc6b	A	T	2: 164,455,779 (GRCm39)	E36V	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	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
IGL03183:Plpp6	APN	19	28,942,071 (GRCm39)	missense	possibly damaging	0.58
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

2012-12-17