Mutagenetix > Incidental Mutation

Incidental Mutation 'R8080:Plpp1'

629304

Institutional Source

Beutler Lab

Gene Symbol

Plpp1

Ensembl Gene

ENSMUSG00000021759

Gene Name

phospholipid phosphatase 1

Synonyms

Hpic53, LPP-1, mPAP, Ppap2a, LPP1, Lipid phosphate phosphatase 1

MMRRC Submission

067513-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8080 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112937326-113004428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113004002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 252 (K252R)

Ref Sequence

ENSEMBL: ENSMUSP00000016144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016144] [ENSMUST00000022281] [ENSMUST00000070951]

AlphaFold

Q61469

Predicted Effect

probably benign
Transcript: ENSMUST00000016144
AA Change: K252R

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000016144
Gene: ENSMUSG00000021759
AA Change: K252R

Domain	Start	End	E-Value	Type
Blast:acidPPc	5	61	1e-14	BLAST
acidPPc	103	244	4.28e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022281

SMART Domains

Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018

Domain	Start	End	E-Value	Type
low complexity region	20	37	N/A	INTRINSIC
DEXDc	134	317	6.42e-34	SMART
HELICc	437	526	3.14e-19	SMART
Pfam:rRNA_proc-arch	580	839	1.7e-91	PFAM
DSHCT	863	1040	1.69e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070951
AA Change: K251R

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064423
Gene: ENSMUSG00000021759
AA Change: K251R

Domain	Start	End	E-Value	Type
Blast:acidPPc	5	72	5e-38	BLAST
acidPPc	102	243	4.28e-45	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 94.9%

Validation Efficiency

100% (64/64)

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic allele are viable and fertile with elevated plasma levels of lysophosphatidic acid. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,023,900 (GRCm39)	Q277R	probably damaging	Het
Anapc5	T	C	5: 122,945,401 (GRCm39)	N226D	probably damaging	Het
Arb2a	T	A	13: 78,154,565 (GRCm39)	L316Q	probably damaging	Het
Bcl2l11	T	C	2: 127,970,586 (GRCm39)	C12R	probably damaging	Het
Bpnt1	A	G	1: 185,084,406 (GRCm39)	T168A	probably damaging	Het
Brca2	A	T	5: 150,463,357 (GRCm39)	E1040D	probably benign	Het
Cdca2	G	A	14: 67,915,004 (GRCm39)	Q752*	probably null	Het
Cntn2	T	C	1: 132,449,536 (GRCm39)	D635G	probably damaging	Het
Cntnap5b	A	T	1: 99,999,928 (GRCm39)	I229F	probably benign	Het
Ctr9	G	A	7: 110,650,774 (GRCm39)	E900K	possibly damaging	Het
Dmbt1	A	G	7: 130,690,500 (GRCm39)	Y911C	unknown	Het
Egflam	T	A	15: 7,427,561 (GRCm39)	D2V	probably benign	Het
Enpep	A	T	3: 129,092,783 (GRCm39)	N505K	probably damaging	Het
Fam13a	A	G	6: 58,933,790 (GRCm39)	S267P	probably damaging	Het
Fancc	G	T	13: 63,550,837 (GRCm39)	T12K		Het
Fbxo3	A	G	2: 103,864,012 (GRCm39)	Y89C	probably damaging	Het
Garem2	A	G	5: 30,313,385 (GRCm39)	Y83C	probably damaging	Het
Gm17079	T	C	14: 51,930,480 (GRCm39)	T122A		Het
Gm3696	A	T	14: 18,435,071 (GRCm39)	L71*	probably null	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gmip	A	T	8: 70,268,736 (GRCm39)	T454S	possibly damaging	Het
Helz2	T	A	2: 180,880,055 (GRCm39)	T554S	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrc	A	G	7: 44,986,262 (GRCm39)	E471G	probably damaging	Het
Hydin	A	G	8: 111,261,863 (GRCm39)	I2655V	probably benign	Het
Ighv1-64	T	C	12: 115,471,463 (GRCm39)	H18R	probably benign	Het
Jcad	A	G	18: 4,649,270 (GRCm39)	Y47C	probably benign	Het
Jmjd4	A	G	11: 59,341,179 (GRCm39)	T37A	probably benign	Het
Kalrn	C	T	16: 33,796,038 (GRCm39)	G2915S	possibly damaging	Het
Kdm5d	T	C	Y: 910,742 (GRCm39)	F285L	probably benign	Het
Lmna	A	G	3: 88,393,868 (GRCm39)	F237L	probably damaging	Het
Med12l	A	G	3: 59,172,607 (GRCm39)	K1788E	probably damaging	Het
Mrgprb1	T	C	7: 48,096,658 (GRCm39)		probably null	Het
Myh1	T	A	11: 67,102,228 (GRCm39)	Y840N	probably benign	Het
Negr1	C	A	3: 156,866,357 (GRCm39)	A302E	probably damaging	Het
Nup188	T	C	2: 30,227,045 (GRCm39)	V1206A	possibly damaging	Het
Nup205	T	C	6: 35,204,311 (GRCm39)	L1399P	probably damaging	Het
Or13a20	T	C	7: 140,232,387 (GRCm39)	M165T	probably benign	Het
Or4a81	T	A	2: 89,618,971 (GRCm39)	I242F	possibly damaging	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Or6c69b	T	C	10: 129,626,997 (GRCm39)	I154V	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,885 (GRCm39)	L288S	unknown	Het
Pcdhb4	A	G	18: 37,442,349 (GRCm39)	D553G	probably benign	Het
Phip	A	G	9: 82,769,662 (GRCm39)	L1147P	probably damaging	Het
Phlpp1	A	G	1: 106,320,706 (GRCm39)	D1567G	probably benign	Het
Pigz	T	C	16: 31,760,858 (GRCm39)	C20R	probably damaging	Het
Polr2a	A	T	11: 69,625,874 (GRCm39)	S1759T	unknown	Het
Rbm42	G	T	7: 30,345,136 (GRCm39)	P212T	unknown	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Slc9a3	A	C	13: 74,314,146 (GRCm39)	Q818P	probably benign	Het
St3gal4	T	C	9: 35,017,617 (GRCm39)		probably null	Het
Stard3nl	G	T	13: 19,554,521 (GRCm39)	A151E	probably damaging	Het
Syt9	T	A	7: 107,035,997 (GRCm39)	I338N	probably benign	Het
Ticrr	A	T	7: 79,334,012 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,713 (GRCm39)	Y169N	probably damaging	Het
Tnc	A	C	4: 63,894,706 (GRCm39)	I1560S	possibly damaging	Het
Usp7	C	A	16: 8,515,771 (GRCm39)	D644Y	probably benign	Het
Utp20	A	G	10: 88,618,577 (GRCm39)	I1141T	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r60	A	G	7: 41,790,521 (GRCm39)	M503V	probably benign	Het
Zfp384	T	C	6: 125,013,521 (GRCm39)	S530P	unknown	Het
Zfp600	T	A	4: 146,133,182 (GRCm39)	C617S	unknown	Het
Zfp819	A	G	7: 43,267,148 (GRCm39)	R544G	probably damaging	Het

Other mutations in Plpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Plpp1	APN	13	112,988,040 (GRCm39)	missense	probably damaging	1.00
IGL02139:Plpp1	APN	13	112,993,433 (GRCm39)	missense	probably benign	0.09
IGL02269:Plpp1	APN	13	112,993,526 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Plpp1	UTSW	13	112,993,419 (GRCm39)	missense	probably damaging	1.00
R0550:Plpp1	UTSW	13	112,971,519 (GRCm39)	missense	probably benign	0.02
R1301:Plpp1	UTSW	13	112,971,477 (GRCm39)	missense	probably damaging	1.00
R1473:Plpp1	UTSW	13	112,996,198 (GRCm39)	missense	probably damaging	1.00
R5224:Plpp1	UTSW	13	112,988,046 (GRCm39)	nonsense	probably null
R5306:Plpp1	UTSW	13	112,988,089 (GRCm39)	critical splice donor site	probably null
R6108:Plpp1	UTSW	13	113,003,399 (GRCm39)	missense	possibly damaging	0.93
R6111:Plpp1	UTSW	13	113,003,451 (GRCm39)	missense	probably damaging	1.00
R6500:Plpp1	UTSW	13	113,003,454 (GRCm39)	missense	probably damaging	1.00
R7520:Plpp1	UTSW	13	112,937,781 (GRCm39)	missense	possibly damaging	0.89
R7716:Plpp1	UTSW	13	112,996,186 (GRCm39)	missense	probably damaging	1.00
R7716:Plpp1	UTSW	13	112,993,323 (GRCm39)	missense	probably benign	0.27
R8209:Plpp1	UTSW	13	113,003,465 (GRCm39)	missense	probably benign	0.44
R8226:Plpp1	UTSW	13	113,003,465 (GRCm39)	missense	probably benign	0.44
R8514:Plpp1	UTSW	13	112,971,462 (GRCm39)	missense	probably damaging	1.00
R8924:Plpp1	UTSW	13	112,943,057 (GRCm39)	intron	probably benign
R8948:Plpp1	UTSW	13	112,993,511 (GRCm39)	missense	probably damaging	0.98
R9130:Plpp1	UTSW	13	112,988,038 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TGGTTGAATGAAGCTATTTGCC -3'
(R):5'- AGCAGGAAGTAATACGCATCCC -3'

Sequencing Primer
(F):5'- GGTTGAATGAAGCTATTTGCCAAAAC -3'
(R):5'- GTAATACGCATCCCCCTGC -3'

Posted On

2020-06-30