Mutagenetix > Incidental Mutation

Incidental Mutation 'R4577:Pnpla2'

342555

Institutional Source

Beutler Lab

Gene Symbol

Pnpla2

Ensembl Gene

ENSMUSG00000025509

Gene Name

patatin-like phospholipase domain containing 2

Synonyms

0610039C21Rik, desnutrin, 1110001C14Rik, Atgl

Accession Numbers

Essential gene?

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

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141035111-141040656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141037257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 87 (S87P)

Ref Sequence

ENSEMBL: ENSMUSP00000127983 (fasta)

Gene Model

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

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: S87P

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

SMART Domains

Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
AA Change: S87P

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

probably damaging
Transcript: ENSMUST00000164016
AA Change: S87P

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

SMART Domains

Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: S87P

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 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 damaging
Transcript: ENSMUST00000165487
AA Change: S34P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000169665
AA Change: S87P

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

SMART Domains

Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509
AA Change: S87P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169723

Predicted Effect

probably benign
Transcript: ENSMUST00000165194

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

Meta Mutation Damage Score

0.9183

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,430,323 (GRCm39)	I222S	probably damaging	Het
Abca1	C	A	4: 53,062,568 (GRCm39)	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,364,892 (GRCm39)	E1524G	probably damaging	Het
Ankrd50	A	G	3: 38,510,090 (GRCm39)	V759A	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cacna1e	A	T	1: 154,277,773 (GRCm39)	S2060T	possibly damaging	Het
Cand2	G	A	6: 115,768,220 (GRCm39)	C455Y	probably damaging	Het
Cdh16	T	C	8: 105,345,191 (GRCm39)	D366G	probably damaging	Het
Cep170b	A	G	12: 112,711,152 (GRCm39)	R595G	probably damaging	Het
Chaf1a	G	A	17: 56,372,184 (GRCm39)	R784Q	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clca4a	C	A	3: 144,660,730 (GRCm39)	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,396 (GRCm39)	Y1195S	probably benign	Het
Dynlt4	A	G	4: 116,985,812 (GRCm39)	T212A	possibly damaging	Het
Dysf	T	C	6: 84,114,308 (GRCm39)	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
F3	A	G	3: 121,527,763 (GRCm39)	I254V	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397 (GRCm39)	F270S	probably damaging	Het
Galnt3	T	C	2: 65,928,203 (GRCm39)	Y231C	probably benign	Het
Gm10220	A	C	5: 26,322,869 (GRCm39)	I181S	probably benign	Het
Gnb5	G	A	9: 75,250,823 (GRCm39)	V316I	possibly damaging	Het
Gys2	A	G	6: 142,400,236 (GRCm39)	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,694,668 (GRCm39)		probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighg2b	T	C	12: 113,270,512 (GRCm39)	E206G	unknown	Het
Iqub	A	T	6: 24,501,290 (GRCm39)	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,158,063 (GRCm39)	K4R	unknown	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,570,486 (GRCm39)	E655K	probably benign	Het
Lrp1b	C	T	2: 40,711,731 (GRCm39)	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,750,550 (GRCm39)	R934*	probably null	Het
Map4	A	G	9: 109,910,489 (GRCm39)	T1061A	possibly damaging	Het
Mbnl1	G	A	3: 60,437,199 (GRCm39)	V50I	probably damaging	Het
Med15	G	A	16: 17,492,379 (GRCm39)	Q132*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mtmr3	G	C	11: 4,447,375 (GRCm39)	L361V	probably damaging	Het
Myo5a	A	G	9: 75,124,827 (GRCm39)	E1792G	probably damaging	Het
Nup88	C	A	11: 70,860,543 (GRCm39)	A55S	probably damaging	Het
Or1ab2	T	A	8: 72,864,167 (GRCm39)	Y252*	probably null	Het
Or4a79	T	C	2: 89,552,387 (GRCm39)	K23E	possibly damaging	Het
Pacs1	G	T	19: 5,193,861 (GRCm39)	S556*	probably null	Het
Parp4	A	G	14: 56,827,867 (GRCm39)	E206G	probably benign	Het
Paxbp1	T	G	16: 90,812,042 (GRCm39)	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,802,302 (GRCm39)	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,609,014 (GRCm39)	L292*	probably null	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Plec	C	A	15: 76,068,269 (GRCm39)	Q1142H	possibly damaging	Het
Prss28	T	C	17: 25,529,079 (GRCm39)	V140A	probably damaging	Het
Rad17	A	T	13: 100,769,786 (GRCm39)	S258T	probably damaging	Het
Rnf111	A	T	9: 70,336,866 (GRCm39)	C932*	probably null	Het
Sdc2	T	C	15: 33,017,278 (GRCm39)	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,500,675 (GRCm39)	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,310,451 (GRCm39)	V327G	possibly damaging	Het
Setd1b	A	G	5: 123,286,679 (GRCm39)	E575G	unknown	Het
Slco1a4	A	T	6: 141,765,266 (GRCm39)	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,648,787 (GRCm39)	V156L	possibly damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Speg	A	G	1: 75,392,039 (GRCm39)	D1607G	probably damaging	Het
Tmem101	T	A	11: 102,046,663 (GRCm39)	M69L	possibly damaging	Het
Treh	G	A	9: 44,597,208 (GRCm39)	M542I	probably benign	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,623,441 (GRCm39)	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,320,789 (GRCm39)	T106A	probably damaging	Het
Wdr27	T	C	17: 15,123,724 (GRCm39)	H583R	probably benign	Het
Xirp2	C	T	2: 67,344,241 (GRCm39)	P2161S	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
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'- CATAGGTGTCTTCACAGTCAATGG -3'
(R):5'- TTGAGTTAACTCCCTGCCGC -3'

Sequencing Primer
(F):5'- GGAATGTCATCCATCTGAGTATATCC -3'
(R):5'- AACACGGTGTCTGCAGTG -3'

Posted On

2015-09-24