Mutagenetix > Incidental Mutation

Incidental Mutation 'R8109:Plpp6'

643893

Institutional Source

Beutler Lab

Gene Symbol

Plpp6

Ensembl Gene

ENSMUSG00000040105

Gene Name

phospholipid phosphatase 6

Synonyms

Ppapdc2, 4932443D16Rik

MMRRC Submission

067538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8109 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28941353-28944211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28941891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 164 (M164K)

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: M164K

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047776
Gene: ENSMUSG00000040105
AA Change: M164K

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	C	8: 111,767,284 (GRCm39)	V130A	probably benign	Het
Acte1	C	T	7: 143,451,203 (GRCm39)		probably null	Het
Adamts12	A	C	15: 11,331,877 (GRCm39)	K1465T	probably benign	Het
Adamtsl1	T	C	4: 86,166,306 (GRCm39)	V223A		Het
Adamtsl3	T	A	7: 82,251,487 (GRCm39)	I1494N	possibly damaging	Het
Ank3	T	C	10: 69,826,148 (GRCm39)	Y1606H		Het
Arhgap32	A	G	9: 32,093,150 (GRCm39)	I168V	probably benign	Het
Atxn7l2	G	A	3: 108,110,617 (GRCm39)	R675C	probably damaging	Het
Brcc3dc	A	G	10: 108,535,520 (GRCm39)	M145T	probably damaging	Het
Bst2	A	T	8: 71,989,990 (GRCm39)	W28R	probably damaging	Het
Cadps	T	A	14: 12,488,975 (GRCm38)	T861S	probably benign	Het
Ceacam11	A	G	7: 17,709,243 (GRCm39)	Y147C	probably benign	Het
Clasp2	T	A	9: 113,740,588 (GRCm39)	N1187K	probably damaging	Het
Dcaf7	T	C	11: 105,937,604 (GRCm39)	W76R	probably damaging	Het
Ephb1	G	A	9: 101,918,222 (GRCm39)	T429I	probably damaging	Het
Flg	A	T	3: 93,197,734 (GRCm39)	Q21L	unknown	Het
Flrt2	T	C	12: 95,747,333 (GRCm39)	V557A	probably benign	Het
Gdpgp1	T	C	7: 79,888,581 (GRCm39)	V204A	probably damaging	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Jph2	T	C	2: 163,181,206 (GRCm39)	K653E	probably benign	Het
Kmt2c	T	C	5: 25,486,382 (GRCm39)	S4724G	probably damaging	Het
Llgl2	T	C	11: 115,741,619 (GRCm39)	V583A	possibly damaging	Het
Met	T	C	6: 17,562,236 (GRCm39)	V1199A	probably damaging	Het
Mmp25	A	G	17: 23,863,768 (GRCm39)	W21R	probably benign	Het
Nsun4	A	T	4: 115,909,040 (GRCm39)	C507S	probably benign	Het
Or1j19	T	A	2: 36,676,618 (GRCm39)	M27K	probably benign	Het
Pard6g	T	C	18: 80,160,658 (GRCm39)	V257A	possibly damaging	Het
Pcdh1	A	G	18: 38,332,049 (GRCm39)	V457A	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Rhobtb2	C	A	14: 70,038,080 (GRCm39)	R60L	probably damaging	Het
Rsph10b	A	C	5: 143,922,348 (GRCm39)	I845L	probably benign	Het
Sdf4	C	T	4: 156,094,295 (GRCm39)	A325V	probably damaging	Het
Slc4a3	A	G	1: 75,528,448 (GRCm39)	D481G	possibly damaging	Het
Smo	A	G	6: 29,755,522 (GRCm39)	Y398C	probably damaging	Het
Sox18	A	G	2: 181,313,293 (GRCm39)	Y8H	possibly damaging	Het
Sycp1	A	T	3: 102,758,918 (GRCm39)	S780T	probably benign	Het
Tdg	T	A	10: 82,480,353 (GRCm39)	V239E	probably damaging	Het
Tenm2	T	C	11: 35,899,137 (GRCm39)	T2675A	probably benign	Het
Thrap3	C	A	4: 126,080,273 (GRCm39)	R31L	unknown	Het
Tinagl1	T	A	4: 130,063,123 (GRCm39)	I149F	probably damaging	Het
Tnc	A	G	4: 63,927,000 (GRCm39)	V842A	probably benign	Het
Tpm3-rs7	A	G	14: 113,552,772 (GRCm39)	D222G	probably benign	Het
Ube4a	T	C	9: 44,846,781 (GRCm39)	I773V	probably benign	Het
Vmn1r229	T	C	17: 21,035,268 (GRCm39)	V171A	probably benign	Het
Zc3hav1	T	C	6: 38,306,114 (GRCm39)	E646G	probably damaging	Het
Zfp341	A	T	2: 154,469,820 (GRCm39)	M168L	probably benign	Het
Zfp874a	A	C	13: 67,597,563 (GRCm39)	D13E	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GAACTTGAACCCGTCCTTCC -3'
(R):5'- TTAGGATAAACCGCGACACC -3'

Sequencing Primer
(F):5'- TGCTGGCCATCGACCTGTG -3'
(R):5'- TAAACCGCGACACCAGGGC -3'

Posted On

2020-09-02