Mutagenetix > Incidental Mutation

Incidental Mutation 'R7358:Pnlip'

571151

Institutional Source

Beutler Lab

Gene Symbol

Pnlip

Ensembl Gene

ENSMUSG00000046008

Gene Name

pancreatic lipase

Synonyms

1810007A24Rik, PTL, pancreatic triglyceride lipase

MMRRC Submission

045444-MU

Accession Numbers

Essential gene?

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

Stock #

R7358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58658797-58670231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58664976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 268 (I268N)

Ref Sequence

ENSEMBL: ENSMUSP00000056377 (fasta)

Gene Model

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

AlphaFold

Q6P8U6

Predicted Effect

probably damaging
Transcript: ENSMUST00000057270
AA Change: I268N

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

SMART Domains

Protein: ENSMUSP00000056377
Gene: ENSMUSG00000046008
AA Change: I268N

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: 99.7%
20x: 99.1%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,510,529 (GRCm39)	Q983L	probably benign	Het
Agtr1a	A	T	13: 30,564,962 (GRCm39)	D9V	probably benign	Het
Ahcyl	T	C	16: 45,974,201 (GRCm39)	E392G	probably damaging	Het
Ankrd13c	T	A	3: 157,697,374 (GRCm39)	Y326*	probably null	Het
Ano2	A	G	6: 125,687,696 (GRCm39)	D67G	probably benign	Het
Arhgef5	G	A	6: 43,256,507 (GRCm39)	R1205H	probably damaging	Het
Ascc3	T	A	10: 50,590,448 (GRCm39)	Y1055*	probably null	Het
Atad5	C	T	11: 80,023,862 (GRCm39)	A1658V	probably benign	Het
Atp6ap1l	T	C	13: 91,031,926 (GRCm39)	D252G	probably damaging	Het
Bdkrb2	T	C	12: 105,558,800 (GRCm39)	V347A	possibly damaging	Het
Ccdc187	A	T	2: 26,146,007 (GRCm39)	L1194Q	probably damaging	Het
Chd9	A	C	8: 91,710,115 (GRCm39)	D770A	unknown	Het
Chd9	A	G	8: 91,760,846 (GRCm39)	D2197G	unknown	Het
Clip2	C	A	5: 134,531,484 (GRCm39)	E774*	probably null	Het
Clspn	A	G	4: 126,459,993 (GRCm39)	T407A	probably benign	Het
Col24a1	T	A	3: 144,998,926 (GRCm39)		probably null	Het
Cradd	T	A	10: 95,158,637 (GRCm39)	T37S	probably damaging	Het
Cspg4b	A	G	13: 113,456,501 (GRCm39)	D849G		Het
Ctbp2	A	G	7: 132,600,610 (GRCm39)	F70S	probably damaging	Het
D3Ertd751e	A	T	3: 41,701,000 (GRCm39)	E6D	probably damaging	Het
Dst	T	A	1: 34,230,754 (GRCm39)	F2782L	probably benign	Het
Dync2h1	A	G	9: 7,159,479 (GRCm39)		probably null	Het
Eif2s1	G	T	12: 78,927,969 (GRCm39)	G215V	probably damaging	Het
Epg5	A	T	18: 78,002,252 (GRCm39)	D557V	possibly damaging	Het
Eya4	C	T	10: 22,999,749 (GRCm39)		probably null	Het
Fpr1	C	A	17: 18,097,242 (GRCm39)	R249L	probably damaging	Het
Fry	A	G	5: 150,339,788 (GRCm39)	T1520A	probably benign	Het
Gapvd1	C	T	2: 34,580,473 (GRCm39)		probably null	Het
Gemin4	A	C	11: 76,104,278 (GRCm39)	L161*	probably null	Het
Gid8	A	T	2: 180,359,779 (GRCm39)	K221I	probably benign	Het
Gm21028	A	C	7: 42,227,913 (GRCm39)	C34G	probably damaging	Het
Greb1	A	G	12: 16,774,882 (GRCm39)	S172P	probably damaging	Het
Herc2	A	G	7: 55,832,423 (GRCm39)	I3040V	possibly damaging	Het
Hmcn2	T	A	2: 31,306,824 (GRCm39)	V3190E	probably damaging	Het
Hrnr	G	T	3: 93,230,448 (GRCm39)	G229*	probably null	Het
Igfn1	A	T	1: 135,891,738 (GRCm39)	V2259D	probably damaging	Het
Ism2	A	G	12: 87,326,814 (GRCm39)	F375S	probably damaging	Het
Kcnk4	T	A	19: 6,903,478 (GRCm39)	D357V	probably damaging	Het
Knl1	A	G	2: 118,901,040 (GRCm39)	R914G	possibly damaging	Het
Mars2	T	C	1: 55,276,729 (GRCm39)	S111P	probably damaging	Het
Mogat2	G	A	7: 98,881,673 (GRCm39)	P88S	possibly damaging	Het
Msh2	T	A	17: 88,024,957 (GRCm39)	S612T	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or1j20	T	C	2: 36,759,890 (GRCm39)	V104A	probably benign	Het
Or2d3c	A	T	7: 106,526,111 (GRCm39)	L185Q	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,390 (GRCm39)	L259P	unknown	Het
Or5m11b	T	A	2: 85,805,780 (GRCm39)	S64R	possibly damaging	Het
Or6c202	T	A	10: 128,995,939 (GRCm39)	I305F	probably benign	Het
Or7e174	A	T	9: 20,012,169 (GRCm39)	Y38F	probably damaging	Het
P2rx7	A	T	5: 122,804,205 (GRCm39)		probably null	Het
Pard3	A	T	8: 128,319,573 (GRCm39)	I1149L	probably damaging	Het
Pcdha8	T	A	18: 37,125,830 (GRCm39)	I104N	probably damaging	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pgap2	A	T	7: 101,859,774 (GRCm39)		probably benign	Het
Phf7	T	C	14: 30,963,745 (GRCm39)	R76G	probably benign	Het
Pigu	T	C	2: 155,141,090 (GRCm39)	T268A	probably damaging	Het
Piwil4	T	C	9: 14,641,289 (GRCm39)	T231A	possibly damaging	Het
Pkd1l1	T	G	11: 8,895,202 (GRCm39)	E636A		Het
Plscr3	T	C	11: 69,738,316 (GRCm39)	S55P	unknown	Het
Podxl	A	T	6: 31,501,929 (GRCm39)	H343Q	probably benign	Het
Prkcd	T	C	14: 30,327,793 (GRCm39)	T213A	probably benign	Het
Prss22	T	A	17: 24,215,419 (GRCm39)	Q119L	probably benign	Het
Psme3ip1	T	C	8: 95,302,327 (GRCm39)	N235D	possibly damaging	Het
Ptprcap	A	G	19: 4,206,238 (GRCm39)	E107G	possibly damaging	Het
Ptprg	A	G	14: 12,154,198 (GRCm38)	T640A	possibly damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Rasa4	A	G	5: 136,124,448 (GRCm39)	T166A	probably benign	Het
Sbf2	T	C	7: 109,998,555 (GRCm39)	E626G	possibly damaging	Het
Scn2a	T	A	2: 65,512,850 (GRCm39)	Y203*	probably null	Het
Serpinb1a	G	C	13: 33,026,981 (GRCm39)	H320Q	probably damaging	Het
Shisa7	G	A	7: 4,832,920 (GRCm39)	T464I	probably benign	Het
Slc47a2	G	A	11: 61,199,699 (GRCm39)	A399V	possibly damaging	Het
Snrnp200	A	G	2: 127,063,746 (GRCm39)	T642A	probably benign	Het
Spag16	A	G	1: 69,883,526 (GRCm39)	H85R	probably benign	Het
Spata31h1	A	G	10: 82,127,847 (GRCm39)	L1721S	possibly damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stag3	C	A	5: 138,299,770 (GRCm39)	L894M	probably damaging	Het
Sun2	A	T	15: 79,618,313 (GRCm39)	F284Y	probably benign	Het
Tpx2	T	A	2: 152,718,550 (GRCm39)	N184K	probably benign	Het
Trpa1	A	T	1: 14,968,334 (GRCm39)	N477K	probably damaging	Het
Ttbk2	C	T	2: 120,620,791 (GRCm39)	R157H	probably damaging	Het
Ttn	C	T	2: 76,537,649 (GRCm39)	E34760K	probably benign	Het
Tysnd1	T	C	10: 61,532,427 (GRCm39)	S360P	probably damaging	Het
Uqcc5	A	G	14: 30,846,560 (GRCm39)	V53A	probably damaging	Het
Usp34	T	A	11: 23,311,683 (GRCm39)	L511I	probably damaging	Het
Vmn2r71	A	T	7: 85,273,468 (GRCm39)	T761S	possibly damaging	Het
Zdhhc18	G	T	4: 133,360,482 (GRCm39)	C73*	probably null	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfy1	T	C	Y: 735,141 (GRCm39)	E214G	unknown	Het
Zmym5	T	A	14: 57,031,597 (GRCm39)	K504*	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
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
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'- AACATTTGACAGTGCCGGG -3'
(R):5'- ATTACAAAGACTGGAGAGCTAGGTC -3'

Sequencing Primer
(F):5'- GGGGTCGAATAATAATAGAGACTTTC -3'
(R):5'- CACTTGTCACAACGGAAC -3'

Posted On

2019-09-13