Mutagenetix > Incidental Mutation

Incidental Mutation 'R7057:Pnlip'

548022

Institutional Source

Beutler Lab

Gene Symbol

Pnlip

Ensembl Gene

ENSMUSG00000046008

Gene Name

pancreatic lipase

Synonyms

1810007A24Rik, PTL, pancreatic triglyceride lipase

MMRRC Submission

045154-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7057 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58658797-58670231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58664695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 212 (D212Y)

Ref Sequence

ENSEMBL: ENSMUSP00000056377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057270]

AlphaFold

Q6P8U6

Predicted Effect

probably damaging
Transcript: ENSMUST00000057270
AA Change: D212Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056377
Gene: ENSMUSG00000046008
AA Change: D212Y

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Lipase	17	352	2.4e-164	PFAM
LH2	355	465	4.47e-25	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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 lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice show impaired dietary cholesterol, triglyceride and retinyl ester absorption, resistance to diet-induced obesity, and insulin resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,945,181 (GRCm39)	V220D	probably benign	Het
Ankrd1	T	C	19: 36,095,633 (GRCm39)	E113G	possibly damaging	Het
Aqp12	T	C	1: 92,939,718 (GRCm39)	L249P	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,296 (GRCm39)	F15S	possibly damaging	Het
Bub1	T	A	2: 127,671,447 (GRCm39)	M46L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2cd4d	A	G	3: 94,270,800 (GRCm39)	H22R	probably benign	Het
Ccdc157	A	G	11: 4,094,586 (GRCm39)	V480A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,952 (GRCm39)		probably benign	Het
Cela1	T	A	15: 100,580,774 (GRCm39)	T161S	possibly damaging	Het
Chtf18	G	T	17: 25,940,100 (GRCm39)	A697E	possibly damaging	Het
Cr2	T	C	1: 194,833,918 (GRCm39)	D957G	possibly damaging	Het
Cyp2c40	A	G	19: 39,796,063 (GRCm39)	V60A	probably damaging	Het
Dazl	CCATGATGGCGGC	CC	17: 50,600,434 (GRCm39)		probably null	Het
Dock2	A	T	11: 34,177,684 (GRCm39)	L1824Q	probably benign	Het
Dock2	T	C	11: 34,586,044 (GRCm39)	Y546C	probably benign	Het
Focad	G	A	4: 88,192,342 (GRCm39)	C557Y	unknown	Het
Ftmt	T	A	18: 52,465,180 (GRCm39)	N165K	probably benign	Het
Gen1	A	C	12: 11,292,419 (GRCm39)	S457A	probably benign	Het
Gja1	T	G	10: 56,264,129 (GRCm39)	S163A	probably benign	Het
Gm8267	T	C	14: 44,959,481 (GRCm39)	I194M	probably damaging	Het
Golga3	T	A	5: 110,336,529 (GRCm39)	S389R	probably damaging	Het
Gpc5	C	A	14: 115,370,654 (GRCm39)	Q87K	possibly damaging	Het
Hmcn2	G	A	2: 31,312,661 (GRCm39)	A3420T	probably damaging	Het
Htt	A	G	5: 34,979,067 (GRCm39)	S817G	probably null	Het
Hus1b	C	T	13: 31,131,533 (GRCm39)	C42Y	possibly damaging	Het
Iars2	A	G	1: 185,021,564 (GRCm39)	F913L	probably benign	Het
Kcna4	A	G	2: 107,125,665 (GRCm39)	E133G	probably damaging	Het
Klhl36	T	C	8: 120,603,536 (GRCm39)	L597P	probably benign	Het
Ltv1	T	C	10: 13,056,646 (GRCm39)	E299G	possibly damaging	Het
Mmp12	A	G	9: 7,357,840 (GRCm39)	Y348C	probably damaging	Het
Mmp12	G	A	9: 7,369,173 (GRCm39)	V270I	probably benign	Het
Mmp2	A	G	8: 93,558,333 (GRCm39)	D134G	probably damaging	Het
Mrpl15	A	T	1: 4,846,865 (GRCm39)	M237K	probably benign	Het
Ms4a6b	G	T	19: 11,504,253 (GRCm39)	V177F	possibly damaging	Het
Muc16	A	G	9: 18,557,375 (GRCm39)	S2973P	unknown	Het
Or1e30	A	C	11: 73,677,974 (GRCm39)	D70A	possibly damaging	Het
Or4c114	A	C	2: 88,904,808 (GRCm39)	I209S	possibly damaging	Het
Or5b120	G	T	19: 13,480,243 (GRCm39)	D179Y	probably damaging	Het
Or5b12b	A	T	19: 12,862,006 (GRCm39)	I254F	probably damaging	Het
Or8b48	A	T	9: 38,493,050 (GRCm39)	H159L	probably damaging	Het
Pikfyve	T	A	1: 65,286,364 (GRCm39)	I1201K	probably benign	Het
Plekhn1	T	G	4: 156,318,374 (GRCm39)	M83L	probably damaging	Het
Pomt2	T	C	12: 87,174,152 (GRCm39)	N417S	probably damaging	Het
Pxylp1	T	A	9: 96,707,103 (GRCm39)	M360L	probably benign	Het
Rbak	G	A	5: 143,159,682 (GRCm39)	T457I	possibly damaging	Het
Runx2	A	T	17: 45,125,424 (GRCm39)	W31R	probably null	Het
Sec16a	T	A	2: 26,315,277 (GRCm39)	I1795F	probably damaging	Het
Sik2	A	T	9: 50,909,861 (GRCm39)	I64N	probably damaging	Het
Slc26a8	T	C	17: 28,857,371 (GRCm39)	E924G	possibly damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc45a4	C	A	15: 73,459,487 (GRCm39)	D174Y	probably damaging	Het
Slc6a6	A	C	6: 91,718,248 (GRCm39)	E354A	probably damaging	Het
Slc8a1	A	T	17: 81,956,524 (GRCm39)	S171R	probably damaging	Het
Srgap1	T	C	10: 121,640,858 (GRCm39)	I669M	probably benign	Het
Stk39	C	A	2: 68,240,471 (GRCm39)	A87S	possibly damaging	Het
Tasor	A	T	14: 27,183,608 (GRCm39)	N689I	probably damaging	Het
Tbx18	C	A	9: 87,587,317 (GRCm39)	S600I	possibly damaging	Het
Tesc	A	C	5: 118,193,025 (GRCm39)	K114Q	probably damaging	Het
Tll1	T	C	8: 64,554,915 (GRCm39)	D256G	probably damaging	Het
Tmem35b	T	A	4: 127,021,679 (GRCm39)	I45K	probably benign	Het
Tnks	T	C	8: 35,307,168 (GRCm39)	D1127G	probably damaging	Het
Trpm8	A	T	1: 88,289,802 (GRCm39)	D920V	probably null	Het
U2af1	A	T	17: 31,867,831 (GRCm39)	D79E	probably benign	Het
Zfp704	T	C	3: 9,535,977 (GRCm39)	D331G	probably damaging	Het
Znrf3	G	T	11: 5,232,442 (GRCm39)	P261Q	probably benign	Het
Zscan4b	A	T	7: 10,635,636 (GRCm39)	C202*	probably null	Het

Other mutations in Pnlip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02257:Pnlip	APN	19	58,662,306 (GRCm39)	missense	probably benign	0.00
IGL02733:Pnlip	APN	19	58,669,220 (GRCm39)	missense	probably benign
R1121:Pnlip	UTSW	19	58,669,340 (GRCm39)	splice site	probably null
R2145:Pnlip	UTSW	19	58,664,876 (GRCm39)	missense	probably benign	0.11
R2213:Pnlip	UTSW	19	58,662,202 (GRCm39)	missense	probably benign	0.07
R3405:Pnlip	UTSW	19	58,669,191 (GRCm39)	missense	probably benign
R4703:Pnlip	UTSW	19	58,664,899 (GRCm39)	missense	probably damaging	1.00
R4731:Pnlip	UTSW	19	58,664,919 (GRCm39)	missense	probably benign	0.00
R4909:Pnlip	UTSW	19	58,664,672 (GRCm39)	missense	possibly damaging	0.85
R5386:Pnlip	UTSW	19	58,668,039 (GRCm39)	missense	probably benign	0.25
R5444:Pnlip	UTSW	19	58,661,595 (GRCm39)	missense	probably benign	0.00
R5851:Pnlip	UTSW	19	58,662,224 (GRCm39)	nonsense	probably null
R6515:Pnlip	UTSW	19	58,661,547 (GRCm39)	missense	probably damaging	1.00
R6605:Pnlip	UTSW	19	58,660,174 (GRCm39)	missense	probably benign	0.20
R6974:Pnlip	UTSW	19	58,668,067 (GRCm39)	critical splice donor site	probably null
R7312:Pnlip	UTSW	19	58,670,134 (GRCm39)	missense	probably damaging	0.97
R7358:Pnlip	UTSW	19	58,664,976 (GRCm39)	missense	probably damaging	1.00
R7476:Pnlip	UTSW	19	58,668,066 (GRCm39)	critical splice donor site	probably null
R7674:Pnlip	UTSW	19	58,663,586 (GRCm39)	missense	possibly damaging	0.70
R7800:Pnlip	UTSW	19	58,670,134 (GRCm39)	missense	probably benign	0.18
R7983:Pnlip	UTSW	19	58,668,491 (GRCm39)	missense	probably benign	0.04
R9252:Pnlip	UTSW	19	58,669,273 (GRCm39)	missense	possibly damaging	0.94
R9425:Pnlip	UTSW	19	58,669,290 (GRCm39)	nonsense	probably null
X0025:Pnlip	UTSW	19	58,669,242 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATAGTGCCCGACAGTTGACG -3'
(R):5'- AATCTAAGTGACCCACAGTCTG -3'

Sequencing Primer
(F):5'- GCCCGACAGTTGACGAAACAG -3'
(R):5'- TGGCTCATTCCAAATCCTGAAG -3'

Posted On

2019-05-13