Mutagenetix > Incidental Mutation

Incidental Mutation 'R4677:Pnpla2'

349664

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

042014-MU

Accession Numbers

Essential gene?

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

Stock #

R4677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141035111-141040656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141038356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 203 (M203K)

Ref Sequence

ENSEMBL: ENSMUSP00000127983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026583] [ENSMUST00000053670] [ENSMUST00000064151] [ENSMUST00000164016] [ENSMUST00000164924] [ENSMUST00000169665] [ENSMUST00000170879] [ENSMUST00000172215] [ENSMUST00000165194] [ENSMUST00000165487] [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: M237K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
AA Change: M237K

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: M237K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: M237K

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: ENSMUST00000169665
AA Change: M203K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509
AA Change: M203K

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: ENSMUST00000211564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169723

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000165194

Predicted Effect

probably benign
Transcript: ENSMUST00000165487

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

0.8252

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (85/85)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,793,587 (GRCm39)	M1T	probably null	Het
Akap3	T	C	6: 126,842,226 (GRCm39)	S282P	probably damaging	Het
Anxa10	A	G	8: 62,516,054 (GRCm39)	I206T	probably damaging	Het
Apobec3	A	G	15: 79,779,713 (GRCm39)	D52G	probably damaging	Het
Arl6	A	T	16: 59,439,228 (GRCm39)		probably null	Het
Calcoco1	T	C	15: 102,626,329 (GRCm39)	E87G	probably damaging	Het
Ccdc88b	C	A	19: 6,825,636 (GRCm39)	A1206S	probably damaging	Het
Ccpg1	A	G	9: 72,923,197 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,389,901 (GRCm39)	N852D	probably damaging	Het
Cobl	T	A	11: 12,336,665 (GRCm39)	Q41L	possibly damaging	Het
Cspg4b	A	G	13: 113,516,020 (GRCm39)	T145A	unknown	Het
Dcdc2b	T	C	4: 129,507,936 (GRCm39)	T39A	probably damaging	Het
Ddx55	A	T	5: 124,705,997 (GRCm39)	D474V	probably benign	Het
Dipk2a	A	T	9: 94,402,457 (GRCm39)	C402S	probably damaging	Het
Dnah17	A	G	11: 118,010,640 (GRCm39)	L521P	probably damaging	Het
Exoc1	A	G	5: 76,707,010 (GRCm39)	D497G	probably null	Het
Fam151a	A	G	4: 106,605,456 (GRCm39)	E606G	possibly damaging	Het
Fbxw11	T	A	11: 32,692,535 (GRCm39)	L502*	probably null	Het
Fcrl1	A	G	3: 87,297,563 (GRCm39)	S337G	possibly damaging	Het
G6pc1	C	A	11: 101,267,439 (GRCm39)	F296L	probably benign	Het
Gm17472	C	A	6: 42,957,809 (GRCm39)	T26N	probably damaging	Het
Grin2b	A	G	6: 135,751,870 (GRCm39)	V564A	probably benign	Het
H2-Ob	T	C	17: 34,461,618 (GRCm39)	I119T	probably benign	Het
Hhip	A	G	8: 80,771,726 (GRCm39)	Y195H	probably damaging	Het
Igkc	A	T	6: 70,703,662 (GRCm39)		probably benign	Het
Islr	A	T	9: 58,064,642 (GRCm39)	D288E	probably damaging	Het
Kdelr1	A	G	7: 45,523,197 (GRCm39)	S36G	probably benign	Het
Lama5	G	T	2: 179,821,159 (GRCm39)	H3134Q	possibly damaging	Het
Loricrin	A	G	3: 91,989,050 (GRCm39)	Y79H	unknown	Het
Lrp1b	A	G	2: 40,691,496 (GRCm39)	F3327S	probably damaging	Het
Lrrc41	C	T	4: 115,952,332 (GRCm39)	H637Y	probably benign	Het
Map2k6	C	T	11: 110,290,220 (GRCm39)		probably benign	Het
Mcm3ap	T	G	10: 76,306,404 (GRCm39)	F172L	probably damaging	Het
Muc19	G	A	15: 91,772,411 (GRCm39)		noncoding transcript	Het
Muc21	T	A	17: 35,930,599 (GRCm39)		probably benign	Het
Muc6	T	A	7: 141,224,212 (GRCm39)		probably benign	Het
Nek1	A	T	8: 61,481,840 (GRCm39)	I252L	probably damaging	Het
Nrg2	A	T	18: 36,154,152 (GRCm39)	H588Q	possibly damaging	Het
Nt5dc2	T	C	14: 30,860,878 (GRCm39)	V351A	possibly damaging	Het
Or1j12	A	G	2: 36,343,062 (GRCm39)	N155S	probably benign	Het
Or51b17	T	C	7: 103,542,615 (GRCm39)	E109G	probably damaging	Het
Or5m5	A	G	2: 85,814,315 (GRCm39)	T44A	possibly damaging	Het
Or8k1	A	T	2: 86,048,032 (GRCm39)	S7R	probably benign	Het
Pde3a	A	G	6: 141,411,865 (GRCm39)	N480D	probably benign	Het
Pde6c	A	G	19: 38,145,833 (GRCm39)	K374E	probably damaging	Het
Pdhx	G	A	2: 102,903,811 (GRCm39)		probably null	Het
Pi4ka	A	G	16: 17,100,237 (GRCm39)	Y1888H	probably damaging	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptcd3	G	T	6: 71,870,498 (GRCm39)	H321N	probably benign	Het
Ptprt	A	G	2: 161,743,366 (GRCm39)		probably null	Het
Ptx4	A	G	17: 25,342,100 (GRCm39)	T192A	probably benign	Het
Qars1	A	G	9: 108,386,889 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,187,387 (GRCm39)	P1372S	possibly damaging	Het
Rps6ka4	G	T	19: 6,816,854 (GRCm39)	T107K	probably damaging	Het
Rsf1	A	G	7: 97,329,980 (GRCm39)	T1169A	possibly damaging	Het
Ryr2	C	A	13: 11,721,553 (GRCm39)	W2626L	probably damaging	Het
Scn4a	C	T	11: 106,214,788 (GRCm39)	V1270I	probably damaging	Het
Serpinb9b	T	C	13: 33,223,806 (GRCm39)	S333P	probably damaging	Het
Sned1	A	G	1: 93,224,019 (GRCm39)		probably benign	Het
Sult1c2	C	T	17: 54,137,137 (GRCm39)	V262M	possibly damaging	Het
Tll1	A	T	8: 64,504,411 (GRCm39)	F662I	probably benign	Het
Tmem161a	A	T	8: 70,633,597 (GRCm39)		probably null	Het
Top1mt	A	C	15: 75,535,907 (GRCm39)	V465G	possibly damaging	Het
Trcg1	A	G	9: 57,153,144 (GRCm39)	K596E	possibly damaging	Het
Trim27	T	A	13: 21,365,086 (GRCm39)		probably null	Het
Trpm3	A	G	19: 22,964,752 (GRCm39)	I1406V	possibly damaging	Het
Tssc4	T	A	7: 142,624,246 (GRCm39)	S254T	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Usp30	A	G	5: 114,257,705 (GRCm39)	T288A	probably damaging	Het
Usp48	C	A	4: 137,343,692 (GRCm39)	R441S	probably benign	Het
Vmn1r29	T	C	6: 58,284,285 (GRCm39)	S2P	probably benign	Het
Vmn2r65	T	A	7: 84,613,082 (GRCm39)	I46L	possibly damaging	Het
Zeb1	A	T	18: 5,766,775 (GRCm39)	I429F	probably damaging	Het
Zfp943	A	G	17: 22,212,176 (GRCm39)	R421G	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
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
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'- AGTCCTGACTAAGCCAGCAC -3'
(R):5'- AAGGCTGCAATTGATCCTCCTC -3'

Sequencing Primer
(F):5'- TGACTAAGCCAGCACCAGGG -3'
(R):5'- TGCCATCAGAGGTTATGG -3'

Posted On

2015-10-08