Mutagenetix > Incidental Mutation

Incidental Mutation 'R7312:Pnlip'

567699

Institutional Source

Beutler Lab

Gene Symbol

Pnlip

Ensembl Gene

ENSMUSG00000046008

Gene Name

pancreatic lipase

Synonyms

1810007A24Rik, PTL, pancreatic triglyceride lipase

MMRRC Submission

045410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7312 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58658797-58670231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58670134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 458 (V458D)

Ref Sequence

ENSEMBL: ENSMUSP00000056377 (fasta)

Gene Model

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

AlphaFold

Q6P8U6

Predicted Effect

probably damaging
Transcript: ENSMUST00000057270
AA Change: V458D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056377
Gene: ENSMUSG00000046008
AA Change: V458D

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

Meta Mutation Damage Score

0.6690

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,969,021 (GRCm39)	S215P	probably benign	Het
Ano2	C	T	6: 126,016,460 (GRCm39)	Q998*	probably null	Het
Atg9a	A	T	1: 75,164,736 (GRCm39)	V76E	probably damaging	Het
Cacna1c	T	C	6: 119,034,172 (GRCm39)	I118M		Het
Cacna1g	T	A	11: 94,323,383 (GRCm39)	I1274F	probably damaging	Het
Cd300lg	C	T	11: 101,937,767 (GRCm39)	A199V	probably benign	Het
Cfap61	C	T	2: 145,887,390 (GRCm39)	R612*	probably null	Het
Cpeb4	A	T	11: 31,881,417 (GRCm39)	Y692F	probably damaging	Het
Dcun1d1	A	G	3: 35,951,940 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,398,579 (GRCm39)	M188K	probably benign	Het
Dmgdh	A	G	13: 93,845,354 (GRCm39)		probably null	Het
Efl1	T	A	7: 82,330,652 (GRCm39)	M275K	probably benign	Het
Erp29	G	T	5: 121,583,392 (GRCm39)	A178D	probably benign	Het
Fbn1	T	C	2: 125,308,594 (GRCm39)	N156S	possibly damaging	Het
Frrs1	C	T	3: 116,675,426 (GRCm39)	T118I	probably damaging	Het
Frrs1l	A	G	4: 56,968,230 (GRCm39)	W181R	probably benign	Het
Gprc5b	C	A	7: 118,583,482 (GRCm39)	W129L	probably damaging	Het
Hoxc9	A	G	15: 102,890,593 (GRCm39)	H170R	probably benign	Het
Il12rb2	C	T	6: 67,333,617 (GRCm39)	D221N	probably benign	Het
Lmo1	T	C	7: 108,742,819 (GRCm39)	N28S	probably benign	Het
Lrrfip2	T	A	9: 111,006,525 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,400,130 (GRCm39)	F722I	probably damaging	Het
Mical1	T	C	10: 41,355,772 (GRCm39)		probably null	Het
Mtcl3	A	G	10: 29,073,240 (GRCm39)	Y844C	probably damaging	Het
Mtmr11	C	T	3: 96,071,855 (GRCm39)	T223M	possibly damaging	Het
Mup21	A	G	4: 62,068,468 (GRCm39)	V66A	probably benign	Het
Nav2	C	A	7: 49,111,672 (GRCm39)	A726D	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nudt21	A	T	8: 94,746,227 (GRCm39)	V157D	probably benign	Het
Numa1	T	C	7: 101,639,806 (GRCm39)	I52T	possibly damaging	Het
Obscn	T	C	11: 58,946,442 (GRCm39)	D4421G	probably benign	Het
Oog3	T	C	4: 143,886,801 (GRCm39)	I106M	probably benign	Het
Or10g9	A	T	9: 39,912,106 (GRCm39)	V139E	probably benign	Het
Or2g25	T	C	17: 37,970,403 (GRCm39)	T274A	possibly damaging	Het
Or2z9	T	C	8: 72,853,793 (GRCm39)	L63P	probably damaging	Het
Or51f1	T	A	7: 102,505,706 (GRCm39)	Y261F	probably damaging	Het
Or5w20	T	G	2: 87,726,755 (GRCm39)	C71G	possibly damaging	Het
Orai2	T	A	5: 136,179,437 (GRCm39)	I199F	probably damaging	Het
P2rx5	C	A	11: 73,055,692 (GRCm39)	L50M	probably damaging	Het
Pdia2	T	C	17: 26,416,634 (GRCm39)	E215G	possibly damaging	Het
Pds5a	A	T	5: 65,823,570 (GRCm39)	S74T	possibly damaging	Het
Phlpp2	A	G	8: 110,666,785 (GRCm39)	S1105G	probably damaging	Het
Pi4kb	T	A	3: 94,891,888 (GRCm39)	D189E	probably benign	Het
Pigw	G	A	11: 84,768,585 (GRCm39)	T248M	probably damaging	Het
Ppm1l	G	A	3: 69,225,044 (GRCm39)	V49I	probably benign	Het
Prl3b1	T	A	13: 27,426,473 (GRCm39)	M1K	probably null	Het
Rad1	T	A	15: 10,493,367 (GRCm39)	C265S	probably benign	Het
Rnaset2b	C	T	17: 7,265,427 (GRCm39)	S237F	probably benign	Het
Rtl1	C	T	12: 109,561,672 (GRCm39)	A56T	unknown	Het
S1pr2	T	C	9: 20,879,238 (GRCm39)	I197V	probably benign	Het
Smyd4	A	G	11: 75,281,082 (GRCm39)	Q185R	probably benign	Het
Sox5	T	A	6: 144,100,759 (GRCm39)	T77S	probably benign	Het
Sox7	A	G	14: 64,185,291 (GRCm39)	Y109C	probably damaging	Het
Styxl2	C	T	1: 165,954,676 (GRCm39)	V25I	probably damaging	Het
Tln1	G	A	4: 43,545,922 (GRCm39)	R898C	probably damaging	Het
Tmprss11b	T	A	5: 86,812,173 (GRCm39)	E158V	probably damaging	Het
Tnpo3	C	A	6: 29,562,875 (GRCm39)	R614L	possibly damaging	Het
Vmn2r100	T	A	17: 19,742,296 (GRCm39)	D223E	probably benign	Het
Zc3h12d	A	T	10: 7,743,345 (GRCm39)	M372L	probably benign	Het
Zfp28	G	T	7: 6,386,593 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,759 (GRCm39)	H231Q	probably damaging	Het
Zscan4b	A	G	7: 10,634,867 (GRCm39)	S459P	probably benign	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
R7057:Pnlip	UTSW	19	58,664,695 (GRCm39)	missense	probably damaging	1.00
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'- ATTTGCAATCATGGTAGGAGGTTAG -3'
(R):5'- CATGGCTCTTGACAACAACTGAG -3'

Sequencing Primer
(F):5'- AGTGGGTGATCCAGTCTCCAATATC -3'
(R):5'- TTGACAACAACTGAGAACTTAAGGC -3'

Posted On

2019-06-26