Mutagenetix > Incidental Mutation

Incidental Mutation 'R9342:Pnpla2'

707571

Institutional Source

Beutler Lab

Gene Symbol

Pnpla2

Ensembl Gene

ENSMUSG00000025509

Gene Name

patatin-like phospholipase domain containing 2

Synonyms

0610039C21Rik, desnutrin, 1110001C14Rik, Atgl

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

R9342 (G1)

Quality Score

154.008

Status

Not validated

Chromosome

Chromosomal Location

141035111-141040656 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 141035331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 44 (Y44*)

Ref Sequence

ENSEMBL: ENSMUSP00000127149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026583] [ENSMUST00000064151] [ENSMUST00000084434] [ENSMUST00000106003] [ENSMUST00000106004] [ENSMUST00000164016] [ENSMUST00000164924] [ENSMUST00000165487] [ENSMUST00000169665]

AlphaFold

Q8BJ56

Predicted Effect

probably null
Transcript: ENSMUST00000026583
AA Change: Y44*

SMART Domains

Protein: ENSMUSP00000026583
Gene: ENSMUSG00000025509
AA Change: Y44*

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	69	4.5e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000064151
AA Change: Y44*

SMART Domains

Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
AA Change: Y44*

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	179	1.8e-15	PFAM
low complexity region	409	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084434

SMART Domains

Protein: ENSMUSP00000081474
Gene: ENSMUSG00000025508

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_60s	17	114	1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106003

SMART Domains

Protein: ENSMUSP00000101625
Gene: ENSMUSG00000025508

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_60s	17	114	1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106004

SMART Domains

Protein: ENSMUSP00000101626
Gene: ENSMUSG00000025508

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_60s	17	114	2.1e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000164016
AA Change: Y44*

SMART Domains

Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: Y44*

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	179	3.3e-15	PFAM
low complexity region	243	287	N/A	INTRINSIC
low complexity region	465	481	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000164924
AA Change: Y44*

SMART Domains

Protein: ENSMUSP00000129632
Gene: ENSMUSG00000025509
AA Change: Y44*

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	69	4.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165487

Predicted Effect

probably null
Transcript: ENSMUST00000169665
AA Change: Y44*

SMART Domains

Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509
AA Change: Y44*

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	249	3.4e-11	PFAM

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 an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for this targeted mutation have defects in lipolysis and altered energy metabolism. Triglyceride accumulation in cardiac muscle leads to severe cardiac dysfunction and mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	T	C	5: 130,407,876 (GRCm39)	I112V	unknown	Het
Aars2	A	G	17: 45,818,002 (GRCm39)	N75D	possibly damaging	Het
Abcf2	G	A	5: 24,778,475 (GRCm39)	R228C	probably benign	Het
Agfg2	A	G	5: 137,652,114 (GRCm39)	L415P	probably benign	Het
Alpi	A	G	1: 87,026,386 (GRCm39)	L535P	unknown	Het
Anxa9	T	G	3: 95,210,359 (GRCm39)	T69P	probably damaging	Het
Arrb2	T	A	11: 70,327,463 (GRCm39)	D79E	probably benign	Het
Bcat1	A	G	6: 144,994,332 (GRCm39)	V55A	probably benign	Het
Cacna1c	A	G	6: 119,034,335 (GRCm39)	L64P		Het
Cd247	A	T	1: 165,682,759 (GRCm39)	D28V	probably damaging	Het
Celsr2	T	A	3: 108,320,442 (GRCm39)	N790I	probably damaging	Het
Clrn1	C	T	3: 58,792,251 (GRCm39)	V71I	probably benign	Het
Cmtr2	T	C	8: 110,949,078 (GRCm39)	Y463H	possibly damaging	Het
Col6a6	T	C	9: 105,663,172 (GRCm39)	T122A	probably benign	Het
Cubn	T	A	2: 13,463,767 (GRCm39)	D646V	probably damaging	Het
Dab2ip	T	A	2: 35,613,105 (GRCm39)	L1062Q	possibly damaging	Het
Dnajb4	T	C	3: 151,892,272 (GRCm39)	N187S	probably benign	Het
Dock10	A	T	1: 80,570,360 (GRCm39)	F365L	probably benign	Het
Erich6	G	A	3: 58,534,101 (GRCm39)	Q309*	probably null	Het
Ext1	T	C	15: 53,208,524 (GRCm39)	H79R	probably benign	Het
Fam187b	T	A	7: 30,677,185 (GRCm39)	C231*	probably null	Het
Fbh1	T	C	2: 11,754,414 (GRCm39)	I775V	probably benign	Het
Fbxo15	T	A	18: 84,983,609 (GRCm39)	M319K	unknown	Het
Fbxo9	A	T	9: 78,002,520 (GRCm39)	M187K	possibly damaging	Het
Fer1l4	T	C	2: 155,877,196 (GRCm39)	D1113G	probably benign	Het
Fsip2	A	T	2: 82,818,747 (GRCm39)	T4827S	possibly damaging	Het
Gm49398	A	T	13: 61,435,478 (GRCm39)	L7Q	probably damaging	Het
H2-M10.4	A	T	17: 36,771,285 (GRCm39)	W298R	probably damaging	Het
Hoxd10	A	G	2: 74,522,982 (GRCm39)	E220G	probably benign	Het
Hrh2	T	G	13: 54,368,222 (GRCm39)	L66R	probably damaging	Het
Igf1r	A	G	7: 67,844,746 (GRCm39)	T840A	probably benign	Het
Iqca1	A	G	1: 90,072,688 (GRCm39)	V64A	probably damaging	Het
Klc2	A	G	19: 5,158,659 (GRCm39)	S612P	probably benign	Het
Klf15	A	G	6: 90,443,851 (GRCm39)	E142G	probably damaging	Het
Krt40	T	A	11: 99,429,579 (GRCm39)	T332S	probably damaging	Het
Lrrc9	T	C	12: 72,506,767 (GRCm39)	F348S	probably damaging	Het
Lrrn4	T	C	2: 132,712,290 (GRCm39)	D511G	probably benign	Het
Lrtm2	T	C	6: 119,297,934 (GRCm39)	I36V	probably benign	Het
Lsm10	T	C	4: 125,991,860 (GRCm39)	L72P	probably damaging	Het
Mab21l3	T	A	3: 101,742,519 (GRCm39)	S14C	possibly damaging	Het
Map2k4	T	C	11: 65,581,569 (GRCm39)	K381R	probably benign	Het
Mcidas	A	G	13: 113,130,915 (GRCm39)	D80G	probably damaging	Het
Med23	A	G	10: 24,750,469 (GRCm39)	M99V	probably benign	Het
Mga	A	G	2: 119,778,656 (GRCm39)	D2067G	probably benign	Het
Ms4a19	T	A	19: 11,119,775 (GRCm39)	T52S	possibly damaging	Het
Msc	G	T	1: 14,825,707 (GRCm39)	P89Q	probably benign	Het
Nalf1	C	A	8: 9,821,006 (GRCm39)	A5S	probably damaging	Het
Or14c44	A	G	7: 86,062,430 (GRCm39)	I287V	probably benign	Het
Or2d3c	A	T	7: 106,526,564 (GRCm39)	I34N	possibly damaging	Het
Or5t7	A	T	2: 86,507,494 (GRCm39)	L61Q	probably damaging	Het
Plekhg6	T	C	6: 125,340,023 (GRCm39)	D779G	probably damaging	Het
Ppp1r17	T	A	6: 56,003,524 (GRCm39)	D112E	probably damaging	Het
Prdm2	A	G	4: 142,861,478 (GRCm39)	I604T	probably damaging	Het
Prkce	A	G	17: 86,781,877 (GRCm39)	Y182C	probably damaging	Het
Prokr2	G	A	2: 132,182,790 (GRCm39)	S189F	possibly damaging	Het
Qser1	A	T	2: 104,618,164 (GRCm39)	S793T	probably benign	Het
Reck	T	C	4: 43,943,301 (GRCm39)	F951S	probably benign	Het
Rev3l	T	C	10: 39,697,458 (GRCm39)	S652P	probably benign	Het
Rtl1	A	C	12: 109,558,884 (GRCm39)	L985R	probably damaging	Het
Sardh	T	C	2: 27,120,869 (GRCm39)	E385G	possibly damaging	Het
Sfmbt1	G	T	14: 30,519,599 (GRCm39)	W440L	possibly damaging	Het
Slc4a7	T	A	14: 14,772,541 (GRCm38)	C683*	probably null	Het
Slc51a	A	G	16: 32,298,517 (GRCm39)	L80P	possibly damaging	Het
Slco3a1	C	A	7: 74,154,037 (GRCm39)	L178F	probably damaging	Het
Spata6	T	A	4: 111,636,389 (GRCm39)	C227S	possibly damaging	Het
Tbc1d30	A	T	10: 121,103,366 (GRCm39)	Y555*	probably null	Het
Tcf7l2	A	G	19: 55,731,517 (GRCm39)	Q90R	probably benign	Het
Tff3	A	C	17: 31,346,423 (GRCm39)	S50A	probably benign	Het
Tnrc6c	T	C	11: 117,630,720 (GRCm39)	M1027T	probably benign	Het
Ttc12	A	G	9: 49,351,680 (GRCm39)	F606L	probably benign	Het
Uqcc3	G	A	19: 8,858,090 (GRCm39)	Q34*	probably null	Het
Veph1	T	A	3: 66,151,959 (GRCm39)	I157F	probably damaging	Het
Vmn2r14	G	A	5: 109,368,428 (GRCm39)	T188I	probably damaging	Het
Vmn2r67	A	G	7: 84,785,788 (GRCm39)	I739T	probably benign	Het
Vmn2r68	A	G	7: 84,882,993 (GRCm39)	F253S	probably benign	Het
Vmn2r74	T	C	7: 85,606,624 (GRCm39)	I241V	probably benign	Het
Vmn2r97	A	G	17: 19,149,368 (GRCm39)	E252G	probably benign	Het
Vps13b	T	C	15: 35,455,200 (GRCm39)	V703A	possibly damaging	Het
Vps25	T	A	11: 101,149,623 (GRCm39)	L149Q	probably damaging	Het
Xirp1	T	C	9: 119,845,950 (GRCm39)	T978A	probably benign	Het
Xpnpep1	T	A	19: 52,993,248 (GRCm39)	I360F	probably benign	Het
Zfpm1	C	T	8: 123,061,308 (GRCm39)	T291M	probably benign	Het
Zkscan8	A	G	13: 21,710,702 (GRCm39)	V136A	probably benign	Het
Zscan18	A	G	7: 12,505,612 (GRCm39)	Y592H	probably damaging	Het

Other mutations in Pnpla2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02267:Pnpla2	APN	7	141,038,122 (GRCm39)	missense	probably damaging	1.00
IGL02622:Pnpla2	APN	7	141,035,285 (GRCm39)	missense	probably damaging	1.00
R0334:Pnpla2	UTSW	7	141,039,433 (GRCm39)	splice site	probably null
R1145:Pnpla2	UTSW	7	141,035,329 (GRCm39)	missense	probably damaging	1.00
R1145:Pnpla2	UTSW	7	141,035,329 (GRCm39)	missense	probably damaging	1.00
R1171:Pnpla2	UTSW	7	141,038,794 (GRCm39)	missense	probably benign	0.05
R1435:Pnpla2	UTSW	7	141,037,324 (GRCm39)	missense	probably benign	0.00
R1774:Pnpla2	UTSW	7	141,039,481 (GRCm39)	missense	probably damaging	0.96
R1866:Pnpla2	UTSW	7	141,035,329 (GRCm39)	missense	probably damaging	1.00
R1967:Pnpla2	UTSW	7	141,039,345 (GRCm39)	missense	probably benign	0.21
R2153:Pnpla2	UTSW	7	141,039,132 (GRCm39)	missense	probably damaging	1.00
R2443:Pnpla2	UTSW	7	141,037,982 (GRCm39)	missense	possibly damaging	0.73
R2923:Pnpla2	UTSW	7	141,035,380 (GRCm39)	missense	probably benign	0.15
R2964:Pnpla2	UTSW	7	141,038,391 (GRCm39)	missense	probably damaging	1.00
R2966:Pnpla2	UTSW	7	141,038,391 (GRCm39)	missense	probably damaging	1.00
R4576:Pnpla2	UTSW	7	141,037,257 (GRCm39)	missense	probably damaging	1.00
R4577:Pnpla2	UTSW	7	141,037,257 (GRCm39)	missense	probably damaging	1.00
R4646:Pnpla2	UTSW	7	141,038,574 (GRCm39)	missense	possibly damaging	0.69
R4677:Pnpla2	UTSW	7	141,038,356 (GRCm39)	missense	probably damaging	1.00
R4934:Pnpla2	UTSW	7	141,038,085 (GRCm39)	missense	probably damaging	1.00
R5011:Pnpla2	UTSW	7	141,039,204 (GRCm39)	critical splice donor site	probably null
R5334:Pnpla2	UTSW	7	141,039,406 (GRCm39)	missense	probably damaging	0.97
R6331:Pnpla2	UTSW	7	141,039,198 (GRCm39)	missense	probably damaging	0.99
R7361:Pnpla2	UTSW	7	141,037,344 (GRCm39)	missense	possibly damaging	0.77
R7959:Pnpla2	UTSW	7	141,037,406 (GRCm39)	missense	probably benign	0.00
R8066:Pnpla2	UTSW	7	141,039,581 (GRCm39)	makesense	probably null
R8354:Pnpla2	UTSW	7	141,038,011 (GRCm39)	missense	probably damaging	1.00
R8454:Pnpla2	UTSW	7	141,038,011 (GRCm39)	missense	probably damaging	1.00
R9267:Pnpla2	UTSW	7	141,036,503 (GRCm39)	intron	probably benign
X0020:Pnpla2	UTSW	7	141,039,573 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCCTGCTTGATCCAGTTGG -3'
(R):5'- ACTGCACTAACTAGTTACTGGAAC -3'

Sequencing Primer
(F):5'- CCAAGGTATCGAGACTGCG -3'
(R):5'- TGGAACAGCTTCCCTACGC -3'

Posted On

2022-04-18