Mutagenetix > Incidental Mutation

Incidental Mutation 'R8049:Plppr1'

618923

Institutional Source

Beutler Lab

Gene Symbol

Plppr1

Ensembl Gene

ENSMUSG00000063446

Gene Name

phospholipid phosphatase related 1

Synonyms

E130309F12Rik, PRG-3, Lppr1

MMRRC Submission

067486-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.359) question?

Stock #

R8049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49059273-49340259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49300942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 92 (M92L)

Ref Sequence

ENSEMBL: ENSMUSP00000075966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076670]

AlphaFold

Q8BFZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000076670
AA Change: M92L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075966
Gene: ENSMUSG00000063446
AA Change: M92L

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
acidPPc	128	272	4.47e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,992 (GRCm39)	T69S	probably benign	Het
5730455P16Rik	A	G	11: 80,268,798 (GRCm39)	S4P	possibly damaging	Het
Abca13	T	A	11: 9,241,867 (GRCm39)	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,303,943 (GRCm39)	S824T	probably benign	Het
Armh4	G	T	14: 50,010,993 (GRCm39)	A238E	probably damaging	Het
C3ar1	T	A	6: 122,827,059 (GRCm39)	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,087,577 (GRCm39)	N527S	probably benign	Het
Cfap69	A	T	5: 5,669,085 (GRCm39)		probably benign	Het
Col7a1	C	T	9: 108,804,631 (GRCm39)	P2279S	unknown	Het
Crb2	G	A	2: 37,683,252 (GRCm39)	G918D	probably benign	Het
Dcn	C	A	10: 97,349,479 (GRCm39)	N250K	probably damaging	Het
Dctn5	G	A	7: 121,732,466 (GRCm39)		probably benign	Het
Ddx55	T	C	5: 124,694,821 (GRCm39)	V83A	probably damaging	Het
Dnaja2	T	A	8: 86,265,876 (GRCm39)	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982 (GRCm39)	I143V	probably benign	Het
Efna5	G	T	17: 62,957,977 (GRCm39)	T93K	probably benign	Het
Eml6	A	G	11: 29,843,201 (GRCm39)	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,347,955 (GRCm39)	V942L	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam78a	C	A	2: 31,973,035 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,892 (GRCm39)	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,105,211 (GRCm39)	M318K	probably damaging	Het
Gm14295	A	G	2: 176,500,871 (GRCm39)	I120M	probably benign	Het
Gm14403	T	A	2: 177,200,311 (GRCm39)	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr55	T	C	1: 85,869,419 (GRCm39)	D54G	probably benign	Het
Gtf2b	T	G	3: 142,483,975 (GRCm39)	S50A	probably damaging	Het
Ifit3	A	T	19: 34,565,480 (GRCm39)	E342V	possibly damaging	Het
Iqgap3	T	A	3: 88,011,609 (GRCm39)	I798N	probably damaging	Het
Kplce	A	T	3: 92,776,202 (GRCm39)	Y160*	probably null	Het
Lpin1	T	C	12: 16,613,685 (GRCm39)	D494G		Het
Lsm12	T	C	11: 102,056,235 (GRCm39)	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,228,603 (GRCm39)	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,680,414 (GRCm39)	M231T	probably benign	Het
Noc3l	A	T	19: 38,800,873 (GRCm39)	V203E	probably benign	Het
Or1e27-ps1	G	T	11: 73,555,988 (GRCm39)	K184N	possibly damaging	Het
Or52h2	C	A	7: 103,839,017 (GRCm39)	L132F	probably damaging	Het
Or5c1	A	T	2: 37,222,346 (GRCm39)	T196S	probably damaging	Het
Or9r7	A	T	10: 129,962,469 (GRCm39)	Y152*	probably null	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde6b	C	T	5: 108,573,118 (GRCm39)	P496L	probably benign	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Ptprk	C	G	10: 28,259,565 (GRCm39)	S335C	possibly damaging	Het
Rars2	T	A	4: 34,650,217 (GRCm39)	M334K	probably benign	Het
Rasl10a	A	T	11: 5,009,823 (GRCm39)	I124F	probably damaging	Het
Rgs12	T	A	5: 35,183,374 (GRCm39)	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,618,608 (GRCm39)	C119S	probably damaging	Het
Scn11a	T	A	9: 119,584,149 (GRCm39)	I1489F	probably damaging	Het
Setd6	C	A	8: 96,443,316 (GRCm39)	S186R	probably benign	Het
Tex19.1	A	G	11: 121,038,148 (GRCm39)	T169A	probably benign	Het
Th	G	A	7: 142,447,860 (GRCm39)	P408S	probably damaging	Het
Trappc13	T	C	13: 104,281,052 (GRCm39)	M337V	probably benign	Het
Treml2	A	T	17: 48,609,762 (GRCm39)	K65*	probably null	Het
Ubxn4	T	C	1: 128,183,933 (GRCm39)	S98P	probably damaging	Het
Wrnip1	A	G	13: 33,005,960 (GRCm39)	S601G	probably benign	Het
Zfp1006	A	T	8: 129,946,555 (GRCm39)	L90H	probably damaging	Het

Other mutations in Plppr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01980:Plppr1	APN	4	49,319,992 (GRCm39)	missense	possibly damaging	0.88
PIT4403001:Plppr1	UTSW	4	49,337,648 (GRCm39)	missense	probably benign	0.01
R0605:Plppr1	UTSW	4	49,323,466 (GRCm39)	missense	probably damaging	1.00
R1381:Plppr1	UTSW	4	49,337,674 (GRCm39)	missense	possibly damaging	0.85
R1452:Plppr1	UTSW	4	49,301,067 (GRCm39)	splice site	probably benign
R1682:Plppr1	UTSW	4	49,325,617 (GRCm39)	critical splice acceptor site	probably null
R1980:Plppr1	UTSW	4	49,337,655 (GRCm39)	missense	probably benign	0.09
R4261:Plppr1	UTSW	4	49,300,993 (GRCm39)	missense	probably benign	0.09
R4674:Plppr1	UTSW	4	49,323,384 (GRCm39)	missense	probably damaging	1.00
R5064:Plppr1	UTSW	4	49,319,974 (GRCm39)	missense	probably benign	0.19
R5144:Plppr1	UTSW	4	49,319,800 (GRCm39)	missense	possibly damaging	0.71
R7545:Plppr1	UTSW	4	49,320,002 (GRCm39)	missense	possibly damaging	0.88
R7823:Plppr1	UTSW	4	49,325,703 (GRCm39)	missense	probably benign	0.01
R8902:Plppr1	UTSW	4	49,319,836 (GRCm39)	missense	probably damaging	1.00
R9378:Plppr1	UTSW	4	49,325,627 (GRCm39)	nonsense	probably null
R9775:Plppr1	UTSW	4	49,323,435 (GRCm39)	missense	probably benign	0.27
Z1177:Plppr1	UTSW	4	49,319,995 (GRCm39)	missense	probably damaging	0.97
Z1177:Plppr1	UTSW	4	49,319,950 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTGAGTTGTACCATAAATG -3'
(R):5'- GCTCAGCTATATCTTGGCTTATTTG -3'

Sequencing Primer
(F):5'- TGGTCAAACATTGATTTCTCTGATTC -3'
(R):5'- GCTCAAGCATATCTTTGGGAGCAC -3'

Posted On

2020-01-23