Mutagenetix > Incidental Mutation

Incidental Mutation 'R3405:Pnlip'

259358

Institutional Source

Beutler Lab

Gene Symbol

Pnlip

Ensembl Gene

ENSMUSG00000046008

Gene Name

pancreatic lipase

Synonyms

1810007A24Rik, PTL, pancreatic triglyceride lipase

MMRRC Submission

040623-MU

Accession Numbers

Essential gene?

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

Stock #

R3405 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58658797-58670231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58669191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 397 (T397A)

Ref Sequence

ENSEMBL: ENSMUSP00000056377 (fasta)

Gene Model

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

AlphaFold

Q6P8U6

Predicted Effect

probably benign
Transcript: ENSMUST00000057270
AA Change: T397A

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

SMART Domains

Protein: ENSMUSP00000056377
Gene: ENSMUSG00000046008
AA Change: T397A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (53/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Bcorl1	T	A	X: 47,459,884 (GRCm39)	M1139K	probably benign	Het
C2cd3	T	C	7: 100,039,373 (GRCm39)	S191P	probably benign	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Col3a1	G	A	1: 45,377,913 (GRCm39)		probably benign	Het
Cubn	C	T	2: 13,338,319 (GRCm39)	V2350I	probably benign	Het
Dhodh	G	A	8: 110,330,107 (GRCm39)	R86*	probably null	Het
Dnhd1	C	T	7: 105,343,968 (GRCm39)	Q1771*	probably null	Het
Dpt	A	C	1: 164,624,500 (GRCm39)	E67A	probably damaging	Het
Eif2ak2	A	G	17: 79,166,068 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,733,536 (GRCm39)	K787E	possibly damaging	Het
Fancm	T	C	12: 65,122,546 (GRCm39)	S23P	probably benign	Het
Fmn1	A	G	2: 113,194,693 (GRCm39)	E131G	unknown	Het
Gm5612	A	T	9: 18,339,149 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Hormad2	T	G	11: 4,374,302 (GRCm39)	Q88P	probably damaging	Het
Immp2l	T	A	12: 41,160,846 (GRCm39)	L48*	probably null	Het
Kcne4	C	T	1: 78,795,688 (GRCm39)	A112V	possibly damaging	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Lrrc30	A	G	17: 67,939,175 (GRCm39)	L135P	probably damaging	Het
Ltn1	A	T	16: 87,213,103 (GRCm39)	V486D	probably damaging	Het
Mab21l3	C	A	3: 101,730,847 (GRCm39)	V131F	probably damaging	Het
Map3k4	A	T	17: 12,475,668 (GRCm39)	F809Y	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mlst8	A	T	17: 24,697,099 (GRCm39)	M56K	probably benign	Het
Mmp9	A	G	2: 164,791,310 (GRCm39)	Y160C	probably damaging	Het
Mslnl	A	G	17: 25,965,155 (GRCm39)	Y507C	probably damaging	Het
Myl12a	A	T	17: 71,301,737 (GRCm39)	M130K	probably benign	Het
Myrfl	A	G	10: 116,658,770 (GRCm39)	F396L	probably damaging	Het
Nalf2	A	G	X: 98,889,109 (GRCm39)	I325V	probably benign	Het
Ncf2	A	G	1: 152,701,698 (GRCm39)		probably benign	Het
Nlrp9c	T	A	7: 26,084,707 (GRCm39)	I291F	probably benign	Het
Nrp1	T	A	8: 129,224,569 (GRCm39)	Y777*	probably null	Het
Ogdh	T	C	11: 6,299,462 (GRCm39)	V776A	probably damaging	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Plg	G	T	17: 12,622,096 (GRCm39)	S472I	possibly damaging	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Senp7	T	A	16: 56,008,640 (GRCm39)	W1007R	probably damaging	Het
Stap2	A	T	17: 56,304,511 (GRCm39)	W374R	probably benign	Het
Szt2	A	G	4: 118,251,217 (GRCm39)	V297A	probably benign	Het
Thada	A	T	17: 84,538,213 (GRCm39)		probably benign	Het
Ticrr	G	C	7: 79,344,539 (GRCm39)	S1468T	probably benign	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vwa8	T	A	14: 79,401,660 (GRCm39)		probably benign	Het
Zfp609	A	T	9: 65,608,454 (GRCm39)	M1142K	possibly damaging	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
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
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'- AATTTACTCCAGGCGTTTGAGTGAC -3'
(R):5'- GGATATAGTTCAAGCACCATCTTTC -3'

Sequencing Primer
(F):5'- GCAGCTTAGATTCCAAAGGA -3'
(R):5'- TGCTTCTTTATGCTCATGCTTAC -3'

Posted On

2015-01-23