Mutagenetix > Incidental Mutation

Incidental Mutation 'R4620:Pnliprp2'

345290

Institutional Source

Beutler Lab

Gene Symbol

Pnliprp2

Ensembl Gene

ENSMUSG00000025091

Gene Name

pancreatic lipase-related protein 2

Synonyms

PLRP2

MMRRC Submission

042008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R4620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58759723-58777533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58762286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 136 (V136I)

Ref Sequence

ENSEMBL: ENSMUSP00000026081 (fasta)

Gene Model

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

AlphaFold

P17892

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026081
AA Change: V136I

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026081
Gene: ENSMUSG00000025091
AA Change: V136I

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 131,343,606 (GRCm38)	Y433*	probably null	Het
Apba2	C	T	7: 64,714,467 (GRCm38)	R331C	probably damaging	Het
Apod	T	C	16: 31,297,393 (GRCm38)	D173G	probably benign	Het
B3gnt5	A	T	16: 19,769,882 (GRCm38)	M284L	probably benign	Het
Birc6	A	C	17: 74,640,150 (GRCm38)	T2955P	probably benign	Het
Blvra	T	C	2: 127,096,965 (GRCm38)	I287T	probably damaging	Het
Capn5	T	C	7: 98,129,371 (GRCm38)	Y347C	probably damaging	Het
Cdcp2	A	G	4: 107,106,730 (GRCm38)	E259G	probably damaging	Het
Cdh2	A	G	18: 16,648,608 (GRCm38)	V85A	probably benign	Het
Cdk5rap2	A	G	4: 70,266,706 (GRCm38)	I1169T	probably benign	Het
Cenpj	A	G	14: 56,535,454 (GRCm38)	V1043A	probably damaging	Het
Cfap54	T	A	10: 92,969,757 (GRCm38)	H1497L	probably benign	Het
Chat	A	G	14: 32,453,818 (GRCm38)	M95T	probably damaging	Het
Csmd1	T	C	8: 16,002,694 (GRCm38)		probably null	Het
Csmd3	T	C	15: 47,585,753 (GRCm38)	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,712,562 (GRCm38)		probably null	Het
Dll1	C	T	17: 15,370,566 (GRCm38)	A332T	probably benign	Het
Dmrta1	A	T	4: 89,688,784 (GRCm38)	Q159L	probably benign	Het
Eci3	A	T	13: 34,948,758 (GRCm38)	M212K	probably damaging	Het
Eml4	T	C	17: 83,461,533 (GRCm38)	F557L	probably benign	Het
Fat3	A	T	9: 15,996,894 (GRCm38)	V2604D	probably damaging	Het
Frem3	T	C	8: 80,668,957 (GRCm38)	V1871A	possibly damaging	Het
Gart	T	C	16: 91,625,433 (GRCm38)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,423,098 (GRCm38)	I463V	probably benign	Het
H2-M3	C	A	17: 37,272,419 (GRCm38)	T257K	probably damaging	Het
Hdgf	A	G	3: 87,914,576 (GRCm38)	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,345,773 (GRCm38)	N226Y	probably damaging	Het
Itgav	T	C	2: 83,755,902 (GRCm38)	Y169H	probably benign	Het
Kalrn	T	G	16: 34,028,705 (GRCm38)	I426L	probably damaging	Het
Kcnh3	G	A	15: 99,234,101 (GRCm38)	V646M	probably damaging	Het
Kif6	T	C	17: 49,901,296 (GRCm38)	V735A	probably benign	Het
Krt2	T	A	15: 101,817,591 (GRCm38)	I171F	probably damaging	Het
Megf8	G	A	7: 25,355,098 (GRCm38)	A1880T	possibly damaging	Het
Miox	A	T	15: 89,336,121 (GRCm38)	Y172F	probably benign	Het
Myo18a	G	A	11: 77,817,947 (GRCm38)	R48H	possibly damaging	Het
Ndufb7	T	C	8: 83,566,858 (GRCm38)	S14P	probably damaging	Het
Npepps	A	T	11: 97,238,244 (GRCm38)	H371Q	probably damaging	Het
Olfr596	C	T	7: 103,309,958 (GRCm38)	T79I	probably benign	Het
Olfr672	T	A	7: 104,996,623 (GRCm38)	I94F	probably damaging	Het
Olfr876	A	G	9: 37,804,819 (GRCm38)	T303A	probably benign	Het
Olfr976	C	T	9: 39,956,909 (GRCm38)	V9M	probably damaging	Het
Orc5	A	T	5: 22,529,176 (GRCm38)	D203E	probably damaging	Het
Pappa	A	G	4: 65,327,028 (GRCm38)	T1518A	probably benign	Het
Pde6a	A	G	18: 61,262,492 (GRCm38)	D602G	probably damaging	Het
Postn	A	C	3: 54,376,993 (GRCm38)	D627A	probably damaging	Het
Prpf39	T	C	12: 65,042,563 (GRCm38)	V25A	probably benign	Het
Pxdc1	A	G	13: 34,652,314 (GRCm38)	I41T	probably damaging	Het
Rab11fip1	T	A	8: 27,154,215 (GRCm38)	E514V	probably damaging	Het
Rag1	A	T	2: 101,643,680 (GRCm38)	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,240,104 (GRCm38)		probably benign	Het
Rexo5	A	G	7: 119,827,303 (GRCm38)	I317V	probably benign	Het
Rragc	A	G	4: 123,924,829 (GRCm38)	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,306,926 (GRCm38)	S187P	probably damaging	Het
Senp3	T	A	11: 69,677,118 (GRCm38)	Y432F	probably benign	Het
Slfn5	G	A	11: 82,961,652 (GRCm38)	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,037,494 (GRCm38)	A722T	probably benign	Het
Sptb	A	T	12: 76,583,807 (GRCm38)	C2244*	probably null	Het
Srbd1	A	T	17: 86,109,265 (GRCm38)	F488L	probably benign	Het
Sucnr1	A	G	3: 60,086,769 (GRCm38)	I239M	possibly damaging	Het
Themis2	A	G	4: 132,786,022 (GRCm38)	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,953 (GRCm38)	N37T	probably benign	Het
Tmem62	A	G	2: 120,996,364 (GRCm38)		probably benign	Het
Tmprss15	T	C	16: 79,021,470 (GRCm38)	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,704,396 (GRCm38)	M75I	probably benign	Het
Trio	T	A	15: 27,871,171 (GRCm38)	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698 (GRCm38)	G64E	probably damaging	Het
Usp32	C	A	11: 85,059,127 (GRCm38)		probably null	Het
Wdfy3	A	T	5: 101,906,145 (GRCm38)	F1603Y	probably damaging	Het
Wdr63	A	T	3: 146,042,809 (GRCm38)	L850Q	probably damaging	Het
Xpo4	A	T	14: 57,630,325 (GRCm38)	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,949,892 (GRCm38)	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,962,753 (GRCm38)	Y792*	probably null	Het

Other mutations in Pnliprp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Pnliprp2	APN	19	58,760,497 (GRCm38)	missense	probably benign
IGL02739:Pnliprp2	APN	19	58,760,509 (GRCm38)	critical splice donor site	probably null
IGL02881:Pnliprp2	APN	19	58,771,446 (GRCm38)	missense	probably benign	0.01
IGL03411:Pnliprp2	APN	19	58,760,415 (GRCm38)	missense	probably benign
R0140:Pnliprp2	UTSW	19	58,766,363 (GRCm38)	missense	probably benign	0.00
R0558:Pnliprp2	UTSW	19	58,774,087 (GRCm38)	missense	probably benign	0.00
R1873:Pnliprp2	UTSW	19	58,763,389 (GRCm38)	missense	probably benign	0.00
R1874:Pnliprp2	UTSW	19	58,763,389 (GRCm38)	missense	probably benign	0.00
R1875:Pnliprp2	UTSW	19	58,763,389 (GRCm38)	missense	probably benign	0.00
R2382:Pnliprp2	UTSW	19	58,768,630 (GRCm38)	missense	probably benign	0.00
R3893:Pnliprp2	UTSW	19	58,766,273 (GRCm38)	missense	probably benign	0.19
R3915:Pnliprp2	UTSW	19	58,760,362 (GRCm38)	missense	probably damaging	1.00
R4893:Pnliprp2	UTSW	19	58,771,421 (GRCm38)	missense	probably benign	0.08
R4957:Pnliprp2	UTSW	19	58,775,145 (GRCm38)	missense	possibly damaging	0.72
R4959:Pnliprp2	UTSW	19	58,766,318 (GRCm38)	missense	probably benign	0.16
R4973:Pnliprp2	UTSW	19	58,766,318 (GRCm38)	missense	probably benign	0.16
R5346:Pnliprp2	UTSW	19	58,759,800 (GRCm38)	missense	probably benign
R6049:Pnliprp2	UTSW	19	58,760,452 (GRCm38)	missense	possibly damaging	0.77
R6228:Pnliprp2	UTSW	19	58,763,442 (GRCm38)	critical splice donor site	probably null
R6394:Pnliprp2	UTSW	19	58,761,598 (GRCm38)	missense	probably benign
R6829:Pnliprp2	UTSW	19	58,759,873 (GRCm38)	missense	probably benign
R7235:Pnliprp2	UTSW	19	58,775,227 (GRCm38)	missense	probably benign	0.03
R7534:Pnliprp2	UTSW	19	58,775,142 (GRCm38)	missense	probably benign
R7834:Pnliprp2	UTSW	19	58,774,159 (GRCm38)	missense	probably benign	0.25
R8015:Pnliprp2	UTSW	19	58,766,282 (GRCm38)	missense	probably damaging	0.99
R8508:Pnliprp2	UTSW	19	58,763,374 (GRCm38)	missense	probably damaging	1.00
R9000:Pnliprp2	UTSW	19	58,774,123 (GRCm38)	missense	probably benign	0.00
R9560:Pnliprp2	UTSW	19	58,774,091 (GRCm38)	missense	possibly damaging	0.94
X0058:Pnliprp2	UTSW	19	58,774,142 (GRCm38)	missense	possibly damaging	0.59
Z1088:Pnliprp2	UTSW	19	58,762,325 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCAGCCTCAGTTTCCATAT -3'
(R):5'- ACCACCCCTCTGTGTATGGT -3'

Sequencing Primer
(F):5'- CAGCCTCAGTTTCCATATCTATTATG -3'
(R):5'- GTGTATGGTTCCTTAACTCTGCC -3'

Posted On

2015-09-25