Mutagenetix > Incidental Mutation

Incidental Mutation 'R1774:Pnpla2'

196932

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

039805-MU

Accession Numbers

Essential gene?

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

Stock #

R1774 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

141035111-141040656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141039481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 398 (V398E)

Ref Sequence

ENSEMBL: ENSMUSP00000065116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026583] [ENSMUST00000053670] [ENSMUST00000064151] [ENSMUST00000164016] [ENSMUST00000164924] [ENSMUST00000170879] [ENSMUST00000165194] [ENSMUST00000169665] [ENSMUST00000167491] [ENSMUST00000165487] [ENSMUST00000172215]

AlphaFold

Q8BJ56

Predicted Effect

probably benign
Transcript: ENSMUST00000026583

SMART Domains

Protein: ENSMUSP00000026583
Gene: ENSMUSG00000025509

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

Predicted Effect

probably benign
Transcript: ENSMUST00000053670

SMART Domains

Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	312	N/A	INTRINSIC
low complexity region	324	346	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000064151
AA Change: V398E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
AA Change: V398E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163833

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164016
AA Change: V454E

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: V454E

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

noncoding transcript
Transcript: ENSMUST00000167900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211564

Predicted Effect

probably benign
Transcript: ENSMUST00000164924

SMART Domains

Protein: ENSMUSP00000129632
Gene: ENSMUSG00000025509

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170879

SMART Domains

Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	219	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165194

Predicted Effect

probably benign
Transcript: ENSMUST00000169665

SMART Domains

Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169723

Predicted Effect

probably benign
Transcript: ENSMUST00000167491

SMART Domains

Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165487

Predicted Effect

probably benign
Transcript: ENSMUST00000172215

SMART Domains

Protein: ENSMUSP00000132793
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,982,351 (GRCm39)	V312A	probably damaging	Het
2810408A11Rik	A	G	11: 69,791,453 (GRCm39)	V42A	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Angpt1	T	A	15: 42,387,012 (GRCm39)	Q114L	probably damaging	Het
Apc2	T	C	10: 80,144,964 (GRCm39)	I625T	probably damaging	Het
Atg2a	T	C	19: 6,300,628 (GRCm39)	V735A	probably benign	Het
Birc6	T	A	17: 74,947,008 (GRCm39)	I2909N	probably damaging	Het
C7	C	G	15: 5,041,557 (GRCm39)	D450H	probably damaging	Het
Cachd1	C	T	4: 100,821,632 (GRCm39)	T403I	probably damaging	Het
Cachd1	T	A	4: 100,824,240 (GRCm39)	F560L	probably benign	Het
Cacna2d2	A	T	9: 107,403,350 (GRCm39)	Y944F	probably benign	Het
Cdkal1	C	T	13: 30,034,031 (GRCm39)	D21N	probably damaging	Het
Col18a1	T	C	10: 76,895,815 (GRCm39)	R901G	probably damaging	Het
Col27a1	C	T	4: 63,143,950 (GRCm39)	P546L	probably damaging	Het
Cps1	C	T	1: 67,210,041 (GRCm39)	R624W	possibly damaging	Het
Cyp11a1	A	T	9: 57,925,643 (GRCm39)	I93F	probably benign	Het
Cyp2c40	G	C	19: 39,775,250 (GRCm39)	T334R	probably damaging	Het
Cyp4f37	A	G	17: 32,848,864 (GRCm39)	D244G	possibly damaging	Het
D630003M21Rik	A	T	2: 158,062,390 (GRCm39)	D43E	probably damaging	Het
Ep400	C	A	5: 110,833,357 (GRCm39)	C1955F	unknown	Het
Ethe1	G	A	7: 24,293,371 (GRCm39)	V6I	probably benign	Het
F5	C	A	1: 164,020,104 (GRCm39)	Q860K	probably benign	Het
Fasn	T	C	11: 120,707,997 (GRCm39)	Y685C	probably damaging	Het
Gga2	T	G	7: 121,611,444 (GRCm39)	D38A	probably damaging	Het
Gm43302	T	A	5: 105,423,660 (GRCm39)	I438F	probably benign	Het
Grm1	T	A	10: 10,955,610 (GRCm39)	T225S	possibly damaging	Het
Hic2	G	T	16: 17,076,511 (GRCm39)	V447L	probably damaging	Het
Hsf2	G	A	10: 57,388,242 (GRCm39)	C462Y	probably damaging	Het
Ice1	T	C	13: 70,752,672 (GRCm39)	D1138G	probably damaging	Het
Il6	A	G	5: 30,224,433 (GRCm39)	T158A	probably benign	Het
Inpp5d	T	A	1: 87,595,611 (GRCm39)	V120E	probably benign	Het
Iqca1	T	C	1: 90,008,625 (GRCm39)	N456S	probably benign	Het
Itgal	T	A	7: 126,908,794 (GRCm39)		probably null	Het
Lrrc66	G	C	5: 73,768,198 (GRCm39)	Q248E	probably benign	Het
Lrrc7	T	A	3: 157,865,929 (GRCm39)	M1271L	possibly damaging	Het
Lrrc74a	T	C	12: 86,795,827 (GRCm39)	S267P	probably damaging	Het
Map2	T	C	1: 66,453,233 (GRCm39)	S550P	probably damaging	Het
Mapk8ip3	A	T	17: 25,143,119 (GRCm39)		probably null	Het
Mdm4	A	C	1: 132,924,384 (GRCm39)	S246A	probably damaging	Het
Med23	A	G	10: 24,779,584 (GRCm39)	E887G	probably damaging	Het
Mta1	C	T	12: 113,091,659 (GRCm39)	A254V	probably damaging	Het
Myh2	A	G	11: 67,064,300 (GRCm39)	Y85C	possibly damaging	Het
Myo1g	A	G	11: 6,465,988 (GRCm39)	Y366H	probably damaging	Het
Nalcn	G	A	14: 123,515,678 (GRCm39)	P1708S	probably benign	Het
Nlrp9c	A	T	7: 26,093,543 (GRCm39)	S41T	probably benign	Het
Nptx2	T	A	5: 144,490,248 (GRCm39)	S226T	possibly damaging	Het
Nup85	T	A	11: 115,473,771 (GRCm39)	S562T	probably benign	Het
Nxpe5	T	C	5: 138,237,797 (GRCm39)	V107A	probably benign	Het
Obi1	A	G	14: 104,717,098 (GRCm39)	V425A	possibly damaging	Het
Oga	T	C	19: 45,765,423 (GRCm39)	E128G	probably benign	Het
Or10ac1	A	T	6: 42,515,453 (GRCm39)	F168I	probably damaging	Het
Or10al7	A	G	17: 38,366,328 (GRCm39)	V43A	probably benign	Het
Or13c3	T	A	4: 52,855,674 (GRCm39)	I280F	probably benign	Het
Or6p1	A	G	1: 174,258,905 (GRCm39)	T304A	probably benign	Het
Pcdhb12	C	T	18: 37,569,495 (GRCm39)	P214S	possibly damaging	Het
Pcdhb5	T	A	18: 37,455,725 (GRCm39)	F702I	probably damaging	Het
Pcnx1	T	C	12: 82,022,094 (GRCm39)	F1475S	probably damaging	Het
Pde5a	C	A	3: 122,523,013 (GRCm39)	T40N	probably benign	Het
Pramel19	G	A	4: 101,797,655 (GRCm39)	V18M	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab20	T	C	8: 11,504,223 (GRCm39)	K159R	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rgs12	T	A	5: 35,123,747 (GRCm39)	V510D	probably benign	Het
Slamf6	T	C	1: 171,770,154 (GRCm39)		probably benign	Het
Slc27a5	A	T	7: 12,731,534 (GRCm39)	C23*	probably null	Het
Slc35e2	T	C	4: 155,694,621 (GRCm39)	V56A	possibly damaging	Het
Slx4ip	T	C	2: 136,909,643 (GRCm39)	S143P	probably damaging	Het
Stat5a	C	T	11: 100,770,112 (GRCm39)	S463F	probably damaging	Het
Svep1	T	C	4: 58,146,562 (GRCm39)	D360G	possibly damaging	Het
Tas2r143	A	T	6: 42,377,305 (GRCm39)	D45V	probably damaging	Het
Tdrd5	G	T	1: 156,105,079 (GRCm39)	R516S	probably damaging	Het
Thy1	A	G	9: 43,958,636 (GRCm39)	D126G	probably benign	Het
Tspear	C	T	10: 77,709,019 (GRCm39)	T415I	probably benign	Het
Ttll5	C	A	12: 85,980,176 (GRCm39)	T920K	probably benign	Het
Tut4	T	C	4: 108,365,152 (GRCm39)	F542L	probably damaging	Het
Umod	T	C	7: 119,076,574 (GRCm39)	E64G	possibly damaging	Het
Usf3	A	G	16: 44,036,033 (GRCm39)	N171S	probably damaging	Het
Vmn1r23	T	A	6: 57,903,675 (GRCm39)	R34S	probably damaging	Het
Wasf1	C	G	10: 40,810,475 (GRCm39)	P239R	possibly damaging	Het
Wdr95	C	T	5: 149,487,857 (GRCm39)	R164*	probably null	Het
Zan	C	A	5: 137,418,251 (GRCm39)	C2949F	unknown	Het
Zbed4	T	C	15: 88,665,080 (GRCm39)	S383P	probably benign	Het
Zfand5	T	A	19: 21,253,895 (GRCm39)	C33S	probably damaging	Het
Zfp12	A	G	5: 143,230,984 (GRCm39)	Y437C	probably damaging	Het
Zfp451	A	C	1: 33,852,849 (GRCm39)	S22A	probably benign	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
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

PCR Primer
(F):5'- GAGTCTTGGAATGGCAGATCTCCAC -3'
(R):5'- GAAAGGTTTCACATCGAAAGCCCAC -3'

Sequencing Primer
(F):5'- GAATGGCAGATCTCCACTAAGC -3'
(R):5'- TCATTCCACAGCATGTAAGGG -3'

Posted On

2014-05-23