Mutagenetix > Incidental Mutation

Incidental Mutation 'R1145:Pnpla2'

500191

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

039218-MU

Accession Numbers

Essential gene?

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

Stock #

R1145 (G1)

Quality Score

120

Status

Not validated

Chromosome

Chromosomal Location

141035111-141040656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141035329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 44 (Y44H)

Ref Sequence

ENSEMBL: ENSMUSP00000127983 (fasta)

Gene Model

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

AlphaFold

Q8BJ56

Predicted Effect

probably damaging
Transcript: ENSMUST00000026583
AA Change: Y44H

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

SMART Domains

Protein: ENSMUSP00000026583
Gene: ENSMUSG00000025509
AA Change: Y44H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000064151
AA Change: Y44H

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

SMART Domains

Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
AA Change: Y44H

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

noncoding transcript
Transcript: ENSMUST00000134636

Predicted Effect

probably damaging
Transcript: ENSMUST00000164016
AA Change: Y44H

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

SMART Domains

Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: Y44H

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 damaging
Transcript: ENSMUST00000164924
AA Change: Y44H

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

SMART Domains

Protein: ENSMUSP00000129632
Gene: ENSMUSG00000025509
AA Change: Y44H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169665
AA Change: Y44H

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

SMART Domains

Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509
AA Change: Y44H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169723

Coding Region Coverage

1x: 99.3%
3x: 97.4%
10x: 88.4%
20x: 65.3%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,488,639 (GRCm39)	S1257P	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
C1s1	C	A	6: 124,517,759 (GRCm39)	D74Y	probably damaging	Het
Cpxm2	A	G	7: 131,659,377 (GRCm39)	S497P	probably damaging	Het
Ctsj	C	T	13: 61,150,357 (GRCm39)	S214N	probably damaging	Het
Dnali1	T	C	4: 124,959,340 (GRCm39)	S18G	possibly damaging	Het
Eif4g3	C	T	4: 137,893,129 (GRCm39)	T959M	probably damaging	Het
Eml6	A	G	11: 29,727,430 (GRCm39)	F1231L	probably benign	Het
Glp1r	T	C	17: 31,138,406 (GRCm39)	V160A	probably benign	Het
Gm10553	T	C	1: 85,078,170 (GRCm39)	S96P	probably benign	Het
Gm9726	C	T	12: 93,895,054 (GRCm39)		noncoding transcript	Het
Hmcn1	A	T	1: 150,555,358 (GRCm39)		probably null	Het
Ldb2	A	G	5: 44,690,016 (GRCm39)	L201P	probably damaging	Het
Odad2	G	T	18: 7,268,436 (GRCm39)	P361Q	probably damaging	Het
Otud6b	T	A	4: 14,812,532 (GRCm39)	T272S	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Sel1l3	C	T	5: 53,289,169 (GRCm39)	R884H	probably damaging	Het
Slc43a2	T	A	11: 75,457,815 (GRCm39)	Y363*	probably null	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tap2	C	A	17: 34,434,914 (GRCm39)	D652E	possibly damaging	Het
Unc80	T	C	1: 66,511,247 (GRCm39)	V85A	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vwa3a	T	C	7: 120,392,566 (GRCm39)	Y802H	probably damaging	Het
Zc3h4	G	A	7: 16,150,838 (GRCm39)	R60Q	possibly 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
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
R9342:Pnpla2	UTSW	7	141,035,331 (GRCm39)	nonsense	probably null
X0020:Pnpla2	UTSW	7	141,039,573 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

Posted On

2017-12-01