Mutagenetix > Incidental Mutation

Incidental Mutation 'R1626:Plpp5'

172500

Institutional Source

Beutler Lab

Gene Symbol

Plpp5

Ensembl Gene

ENSMUSG00000031570

Gene Name

phospholipid phosphatase 5

Synonyms

2310022A04Rik, Ppapdc1b, 1810019D05Rik

MMRRC Submission

039663-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R1626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26210064-26214914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26212604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 200 (C200F)

Ref Sequence

ENSEMBL: ENSMUSP00000122437 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000068916
AA Change: C200F

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067035
Gene: ENSMUSG00000031570
AA Change: C200F

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

possibly damaging
Transcript: ENSMUST00000139836
AA Change: C200F

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122437
Gene: ENSMUSG00000031570
AA Change: C200F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210629
AA Change: C132F

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000211688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209375

Predicted Effect

probably benign
Transcript: ENSMUST00000210777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209483

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145678

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,571 (GRCm39)	Y71H	possibly damaging	Het
Acsl6	C	A	11: 54,242,872 (GRCm39)	P628T	probably damaging	Het
Ak7	A	G	12: 105,734,807 (GRCm39)	D591G	probably benign	Het
Anxa5	T	C	3: 36,516,130 (GRCm39)	D66G	probably damaging	Het
Cacna1b	G	A	2: 24,496,721 (GRCm39)	T2283I	probably damaging	Het
Cand1	A	T	10: 119,045,919 (GRCm39)	D995E	possibly damaging	Het
Cblc	G	T	7: 19,530,427 (GRCm39)	A94E	probably damaging	Het
Cd48	G	A	1: 171,509,687 (GRCm39)	C9Y	probably benign	Het
Chd9	A	G	8: 91,721,224 (GRCm39)	K1004R	probably benign	Het
Cilk1	A	G	9: 78,057,919 (GRCm39)	Y156C	probably damaging	Het
Cldn1	T	C	16: 26,190,202 (GRCm39)	T59A	probably damaging	Het
Col11a1	G	A	3: 113,925,218 (GRCm39)	G17D	probably damaging	Het
Cpeb1	A	G	7: 81,085,995 (GRCm39)	V49A	probably damaging	Het
Cyp4b1	G	T	4: 115,498,855 (GRCm39)	P109Q	probably damaging	Het
Dhrs7b	T	A	11: 60,735,082 (GRCm39)	F23I	possibly damaging	Het
Dnah9	C	A	11: 65,976,093 (GRCm39)	A1319S	probably benign	Het
Egf	A	T	3: 129,479,864 (GRCm39)	V553D	possibly damaging	Het
Fbn1	T	C	2: 125,183,199 (GRCm39)	D1760G	probably damaging	Het
Fbxo31	A	G	8: 122,286,745 (GRCm39)	F178L	probably damaging	Het
Fstl4	C	A	11: 52,891,117 (GRCm39)	S85*	probably null	Het
Gfm1	A	G	3: 67,345,977 (GRCm39)	Y225C	probably damaging	Het
Gm10797	A	T	10: 67,408,453 (GRCm39)		noncoding transcript	Het
H3c8	G	A	13: 23,719,721 (GRCm39)	V36M	probably damaging	Het
Heatr4	T	A	12: 84,020,495 (GRCm39)	I499L	probably benign	Het
Igfn1	A	T	1: 135,896,705 (GRCm39)	M1287K	probably benign	Het
Inpp5b	C	A	4: 124,677,696 (GRCm39)	D385E	probably damaging	Het
Lrrc9	A	G	12: 72,542,435 (GRCm39)		probably null	Het
Ltb4r1	A	G	14: 56,004,699 (GRCm39)	M1V	probably null	Het
Macf1	T	C	4: 123,365,327 (GRCm39)	I3145V	probably benign	Het
Man2a2	T	C	7: 80,017,450 (GRCm39)	N277S	probably damaging	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mgat4e	A	G	1: 134,469,016 (GRCm39)	Y343H	probably benign	Het
Noxred1	T	C	12: 87,268,029 (GRCm39)	*367W	probably null	Het
Nup58	A	T	14: 60,480,076 (GRCm39)	L190*	probably null	Het
Olfml2a	G	T	2: 38,841,275 (GRCm39)	K270N	probably damaging	Het
Or5c1	A	G	2: 37,222,774 (GRCm39)		probably null	Het
Or7g32	A	G	9: 19,389,495 (GRCm39)	L14P	probably damaging	Het
Phgdh	G	T	3: 98,223,725 (GRCm39)	Q359K	probably benign	Het
Pole	A	C	5: 110,441,235 (GRCm39)	I230L	probably benign	Het
Prtg	A	T	9: 72,752,193 (GRCm39)	D193V	probably damaging	Het
Ptgs2	G	A	1: 149,979,619 (GRCm39)		probably null	Het
Ptprz1	A	T	6: 23,001,573 (GRCm39)	Q1221L	probably benign	Het
Rufy2	T	C	10: 62,831,151 (GRCm39)	I204T	probably benign	Het
Rybp	A	G	6: 100,209,919 (GRCm39)	S115P	possibly damaging	Het
Samd13	A	G	3: 146,368,481 (GRCm39)	V37A	probably benign	Het
Secisbp2l	T	G	2: 125,617,606 (GRCm39)	K24Q	probably damaging	Het
Sorbs2	A	G	8: 46,222,891 (GRCm39)	Y198C	probably damaging	Het
Svil	T	G	18: 5,117,099 (GRCm39)		probably null	Het
Ttc24	G	T	3: 87,977,366 (GRCm39)	R127S	probably benign	Het
Ttn	C	T	2: 76,588,888 (GRCm39)	V21394M	probably damaging	Het
Tubal3	G	T	13: 3,982,841 (GRCm39)	C207F	probably damaging	Het
Vmn2r16	A	T	5: 109,511,443 (GRCm39)	D550V	probably damaging	Het
Vmn2r2	T	A	3: 64,041,921 (GRCm39)	I265F	possibly damaging	Het
Zfp507	T	C	7: 35,494,858 (GRCm39)	K62E	probably damaging	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
IGL01588:Plpp5	APN	8	26,214,195 (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
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

Predicted Primers

PCR Primer
(F):5'- TGACCTTTGTAGCTCCCAGGAACC -3'
(R):5'- ACTCAGTACAATCCACAGGCTGTCC -3'

Sequencing Primer
(F):5'- GGTGCTGTAGACTTCTCACCATAAG -3'
(R):5'- CACAGGCTGTCCCCTCC -3'

Posted On

2014-04-24