Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Pnliprp2'

381688

Institutional Source

Beutler Lab

Gene Symbol

Pnliprp2

Ensembl Gene

ENSMUSG00000025091

Gene Name

pancreatic lipase-related protein 2

Synonyms

PLRP2

MMRRC Submission

042554-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R4957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58759723-58777533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58775145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 409 (L409F)

Ref Sequence

ENSEMBL: ENSMUSP00000026081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026081]

AlphaFold

P17892

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026081
AA Change: L409F

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026081
Gene: ENSMUSG00000025091
AA Change: L409F

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Lipase	31	367	4.1e-166	PFAM
LH2	370	482	7.49e-27	SMART

Meta Mutation Damage Score

0.3445

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display deficient lipid absorbtion before weaning which results in growth retardation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,169,110		probably benign	Het
3110009E18Rik	G	T	1: 120,169,119		probably benign	Het
3110009E18Rik	C	T	1: 120,169,120		probably benign	Het
6820408C15Rik	T	A	2: 152,444,093	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,532,361	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,606,810	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,558,291	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,364,868		probably benign	Het
Cd163l1	T	C	7: 140,228,522	V782A	probably damaging	Het
Cd74	A	G	18: 60,809,037	N113D	probably benign	Het
Cdc25b	T	C	2: 131,193,605	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,611,196	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,612,428	I310T	probably damaging	Het
Creb5	A	T	6: 53,693,922		probably null	Het
Crebbp	T	C	16: 4,117,367	Q460R	probably benign	Het
Dnah17	A	T	11: 118,074,298	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,431,923	H215L	probably damaging	Het
Enkd1	A	G	8: 105,704,489	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892	A407V	probably damaging	Het
Ercc3	G	T	18: 32,243,117	G130W	probably damaging	Het
Fbxl8	A	G	8: 105,268,195	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099	N339K	probably damaging	Het
Frrs1	G	A	3: 116,885,248	D240N	probably benign	Het
Gemin2	A	G	12: 59,017,168	S105G	probably benign	Het
Glra1	T	A	11: 55,527,398	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,710,521	P354S	probably damaging	Het
Gpr15	G	T	16: 58,718,174	A184E	probably damaging	Het
Grm7	G	A	6: 111,358,863	G745E	probably damaging	Het
H2-T10	T	A	17: 36,117,416		probably benign	Het
Hdac5	C	A	11: 102,205,256		probably benign	Het
Ift22	G	A	5: 136,908,216		probably benign	Het
Ighg3	T	C	12: 113,361,130	E34G	unknown	Het
Itga11	A	T	9: 62,767,648	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,872	V282A	possibly damaging	Het
Maml2	A	G	9: 13,620,276	K262R	probably damaging	Het
Mme	T	A	3: 63,343,489		probably benign	Het
Mnat1	A	G	12: 73,123,878	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,135	T34S	possibly damaging	Het
Ncaph	T	C	2: 127,121,257	D352G	possibly damaging	Het
Olfr1014	T	C	2: 85,777,115	F177S	probably damaging	Het
Olfr1036	T	A	2: 86,075,510	Y257N	probably damaging	Het
Olfr1293-ps	C	A	2: 111,528,224	N321K	probably benign	Het
Olfr224	A	G	11: 58,566,518	Y276H	probably damaging	Het
Pcdhb13	T	A	18: 37,444,784	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,300,499	R825Q	probably benign	Het
Prlr	G	T	15: 10,319,195	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,851,272	T772I	probably benign	Het
Ryr2	T	C	13: 11,785,080	Q927R	probably damaging	Het
Scarf1	A	G	11: 75,525,634	E634G	probably benign	Het
Slc39a14	A	T	14: 70,315,811	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,544,831	T176S	probably benign	Het
Srsf10	T	C	4: 135,856,230	S2P	probably damaging	Het
Tcam1	T	A	11: 106,282,879	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,931,432		probably null	Het
Tdrd3	T	A	14: 87,505,787	H390Q	probably benign	Het
Tlk2	T	C	11: 105,253,359		probably null	Het
Tnc	G	C	4: 63,976,556	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 145,246,757	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 145,246,758	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,651,809	E264V	probably damaging	Het
Ttc37	T	G	13: 76,185,113		probably null	Het
Ugt3a2	G	A	15: 9,365,188	V296I	probably benign	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,799,263	E541A	probably benign	Het
Ybx1	A	T	4: 119,278,938		probably benign	Het
Zfp39	T	A	11: 58,891,231	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,626,943	K32*	probably null	Het
Zpbp2	T	A	11: 98,551,324		probably null	Het

Other mutations in Pnliprp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Pnliprp2	APN	19	58760497	missense	probably benign
IGL02739:Pnliprp2	APN	19	58760509	critical splice donor site	probably null
IGL02881:Pnliprp2	APN	19	58771446	missense	probably benign	0.01
IGL03411:Pnliprp2	APN	19	58760415	missense	probably benign
R0140:Pnliprp2	UTSW	19	58766363	missense	probably benign	0.00
R0558:Pnliprp2	UTSW	19	58774087	missense	probably benign	0.00
R1873:Pnliprp2	UTSW	19	58763389	missense	probably benign	0.00
R1874:Pnliprp2	UTSW	19	58763389	missense	probably benign	0.00
R1875:Pnliprp2	UTSW	19	58763389	missense	probably benign	0.00
R2382:Pnliprp2	UTSW	19	58768630	missense	probably benign	0.00
R3893:Pnliprp2	UTSW	19	58766273	missense	probably benign	0.19
R3915:Pnliprp2	UTSW	19	58760362	missense	probably damaging	1.00
R4620:Pnliprp2	UTSW	19	58762286	missense	possibly damaging	0.67
R4893:Pnliprp2	UTSW	19	58771421	missense	probably benign	0.08
R4959:Pnliprp2	UTSW	19	58766318	missense	probably benign	0.16
R4973:Pnliprp2	UTSW	19	58766318	missense	probably benign	0.16
R5346:Pnliprp2	UTSW	19	58759800	missense	probably benign
R6049:Pnliprp2	UTSW	19	58760452	missense	possibly damaging	0.77
R6228:Pnliprp2	UTSW	19	58763442	critical splice donor site	probably null
R6394:Pnliprp2	UTSW	19	58761598	missense	probably benign
R6829:Pnliprp2	UTSW	19	58759873	missense	probably benign
R7235:Pnliprp2	UTSW	19	58775227	missense	probably benign	0.03
R7534:Pnliprp2	UTSW	19	58775142	missense	probably benign
R7834:Pnliprp2	UTSW	19	58774159	missense	probably benign	0.25
R8015:Pnliprp2	UTSW	19	58766282	missense	probably damaging	0.99
R8508:Pnliprp2	UTSW	19	58763374	missense	probably damaging	1.00
R9000:Pnliprp2	UTSW	19	58774123	missense	probably benign	0.00
R9560:Pnliprp2	UTSW	19	58774091	missense	possibly damaging	0.94
X0058:Pnliprp2	UTSW	19	58774142	missense	possibly damaging	0.59
Z1088:Pnliprp2	UTSW	19	58762325	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGGCATCTTTCAACCAAAG -3'
(R):5'- GTCAGATACGTACTCTTTCCCG -3'

Sequencing Primer
(F):5'- GTCCTGTAGCAAACTTAGAGCTC -3'
(R):5'- GTCTTTACCGCGTTGCACTGTG -3'

Posted On

2016-04-27