Incidental Mutation 'R1171:Pnpla2'
ID99409
Institutional Source Beutler Lab
Gene Symbol Pnpla2
Ensembl Gene ENSMUSG00000025509
Gene Namepatatin-like phospholipase domain containing 2
SynonymsAtgl, 0610039C21Rik, 1110001C14Rik, desnutrin
MMRRC Submission 039244-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.436) question?
Stock #R1171 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location141455198-141460743 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 141458881 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 321 (M321K)
Ref Sequence ENSEMBL: ENSMUSP00000127149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026583] [ENSMUST00000053670] [ENSMUST00000064151] [ENSMUST00000164016] [ENSMUST00000164924] [ENSMUST00000165194] [ENSMUST00000165487] [ENSMUST00000167491] [ENSMUST00000169665] [ENSMUST00000170879] [ENSMUST00000172215]
Predicted Effect probably benign
Transcript: ENSMUST00000026583
SMART Domains Protein: ENSMUSP00000026583
Gene: ENSMUSG00000025509

DomainStartEndE-ValueType
Pfam:Patatin 10 69 4.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053670
SMART Domains Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000064151
AA Change: M265K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
AA Change: M265K

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000164016
AA Change: M321K

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: M321K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Patatin 10 69 4.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165194
Predicted Effect probably benign
Transcript: ENSMUST00000165487
Predicted Effect probably benign
Transcript: ENSMUST00000167491
SMART Domains Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000167900
Predicted Effect probably benign
Transcript: ENSMUST00000169665
AA Change: M287K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509
AA Change: M287K

DomainStartEndE-ValueType
Pfam:Patatin 10 249 3.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169723
Predicted Effect probably benign
Transcript: ENSMUST00000170879
SMART Domains Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000211564
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik T C 19: 11,112,377 Y48C probably damaging Het
Acsm5 A T 7: 119,540,852 E492V probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atr T C 9: 95,907,323 F1511L probably damaging Het
BC005561 T C 5: 104,520,903 V1097A possibly damaging Het
Bdkrb2 G T 12: 105,592,157 R219L probably benign Het
Bhmt2 A T 13: 93,662,329 M328K probably benign Het
Btbd3 A G 2: 138,283,961 D286G probably benign Het
Bub1b T G 2: 118,606,686 L122V probably benign Het
Caml T C 13: 55,625,007 S155P probably damaging Het
Cfap43 T C 19: 47,835,711 K74E probably benign Het
Chst4 A G 8: 110,030,623 S120P probably damaging Het
Col11a1 A G 3: 114,066,564 D213G unknown Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,348,082 probably null Het
Cxcl10 CAC CACTAAC 5: 92,348,086 probably null Het
Cyp26b1 A T 6: 84,576,671 I167N possibly damaging Het
Dchs1 A G 7: 105,757,714 S2195P probably benign Het
Ddx25 T A 9: 35,546,846 K326* probably null Het
Dip2c A T 13: 9,493,126 Y36F possibly damaging Het
Dock2 T C 11: 34,695,241 D538G probably damaging Het
E4f1 C T 17: 24,451,549 D55N probably damaging Het
Emp1 G T 6: 135,381,079 W141L probably damaging Het
Faim2 T A 15: 99,500,254 H271L probably benign Het
Fbxw9 T C 8: 85,066,078 M352T possibly damaging Het
Fcrls A T 3: 87,256,860 F321I probably benign Het
Frzb C T 2: 80,438,490 probably null Het
Gal3st1 G T 11: 3,998,931 K379N probably damaging Het
Gm5519 G A 19: 33,822,972 C22Y possibly damaging Het
Gpn3 T C 5: 122,378,520 F71L probably benign Het
H2-M9 A G 17: 36,641,653 V167A probably benign Het
Hars A G 18: 36,771,414 F182L possibly damaging Het
Hid1 T C 11: 115,352,717 T502A probably benign Het
Hipk3 G T 2: 104,471,676 T57K probably benign Het
Iqsec2 A G X: 152,144,731 S87G probably benign Het
Itpk1 G A 12: 102,606,119 L112F probably damaging Het
Klk9 T A 7: 43,794,393 D110E possibly damaging Het
Lemd3 A T 10: 120,949,341 M535K possibly damaging Het
Lipg A T 18: 74,945,823 S453T possibly damaging Het
Lrrc75a A T 11: 62,609,243 W150R probably damaging Het
Lyg1 T C 1: 37,947,224 E143G probably damaging Het
Map3k1 A G 13: 111,755,643 V1026A probably benign Het
Mgat3 T A 15: 80,211,637 F222I probably benign Het
Mindy4 A T 6: 55,255,616 N348I possibly damaging Het
Myo1b A C 1: 51,778,525 F532C probably damaging Het
Naif1 T A 2: 32,452,546 N36K probably damaging Het
Nkpd1 C A 7: 19,524,087 A597E possibly damaging Het
Npr2 A G 4: 43,647,260 D772G possibly damaging Het
Olfr2 T C 7: 107,001,584 N92S probably benign Het
Olfr658 T G 7: 104,644,997 D123A probably damaging Het
Pcolce2 A T 9: 95,694,740 M355L probably benign Het
Pdgfra A T 5: 75,173,447 I394F probably damaging Het
Pdzrn3 G A 6: 101,150,877 R943C probably damaging Het
Pml A G 9: 58,234,538 V337A probably damaging Het
Poln A T 5: 34,103,940 N546K probably damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prss28 T A 17: 25,310,055 F123L possibly damaging Het
Psg18 A G 7: 18,346,079 V399A probably benign Het
Rab5a T C 17: 53,506,415 C212R probably damaging Het
Ranbp6 A T 19: 29,812,279 D224E probably benign Het
Recql4 T C 15: 76,704,039 I1104M possibly damaging Het
Rev1 A T 1: 38,088,500 N226K possibly damaging Het
Rhbdl3 T A 11: 80,353,592 V375E possibly damaging Het
Senp6 T A 9: 80,116,725 N423K possibly damaging Het
Sertad2 C G 11: 20,648,091 L96V probably benign Het
Slc33a1 T A 3: 63,953,894 T296S probably benign Het
Smurf2 G A 11: 106,852,618 P188S possibly damaging Het
Spta1 T A 1: 174,211,614 Y1174* probably null Het
Stra6l A T 4: 45,864,982 T103S probably benign Het
Swt1 C T 1: 151,405,521 A352T probably damaging Het
Tdgf1 C A 9: 110,943,167 V54L probably benign Het
Tigd2 T A 6: 59,211,376 N409K possibly damaging Het
Tlr6 G T 5: 64,955,250 H105N probably benign Het
Tmprss9 A C 10: 80,879,858 T15P possibly damaging Het
Tnik C T 3: 28,532,940 T120M probably damaging Het
Tnr T A 1: 159,858,210 I337N probably damaging Het
Top3a A G 11: 60,750,593 Y422H probably benign Het
Trim67 A G 8: 124,829,081 N768S probably damaging Het
Ttn A G 2: 76,705,966 V35016A probably benign Het
Utrn A C 10: 12,481,308 S312R probably damaging Het
Vdac2 A G 14: 21,837,811 Y62C probably damaging Het
Vwa5b2 A G 16: 20,604,984 T1216A probably benign Het
Wfdc16 T C 2: 164,638,483 K31E possibly damaging Het
Wtip C T 7: 34,125,496 C221Y probably damaging Het
Xrn1 A G 9: 95,991,011 D640G possibly damaging Het
Zdhhc5 T C 2: 84,692,341 R293G probably benign Het
Zfp536 T C 7: 37,569,634 D119G probably damaging Het
Zfp81 T C 17: 33,335,280 T187A probably benign Het
Zfp810 C T 9: 22,278,826 G262D possibly damaging Het
Zfp963 A C 8: 69,743,019 I203M possibly damaging Het
Zfpm2 T C 15: 41,101,679 M520T probably damaging Het
Zswim8 G A 14: 20,713,113 R360Q possibly damaging Het
Zwilch T A 9: 64,158,717 H254L possibly damaging Het
Other mutations in Pnpla2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02267:Pnpla2 APN 7 141458209 missense probably damaging 1.00
IGL02622:Pnpla2 APN 7 141455372 missense probably damaging 1.00
R0334:Pnpla2 UTSW 7 141459520 unclassified probably null
R1145:Pnpla2 UTSW 7 141455416 missense probably damaging 1.00
R1145:Pnpla2 UTSW 7 141455416 missense probably damaging 1.00
R1435:Pnpla2 UTSW 7 141457411 missense probably benign 0.00
R1774:Pnpla2 UTSW 7 141459568 missense probably damaging 0.96
R1866:Pnpla2 UTSW 7 141455416 missense probably damaging 1.00
R1967:Pnpla2 UTSW 7 141459432 missense probably benign 0.21
R2153:Pnpla2 UTSW 7 141459219 missense probably damaging 1.00
R2443:Pnpla2 UTSW 7 141458069 missense possibly damaging 0.73
R2923:Pnpla2 UTSW 7 141455467 missense probably benign 0.15
R2964:Pnpla2 UTSW 7 141458478 missense probably damaging 1.00
R2966:Pnpla2 UTSW 7 141458478 missense probably damaging 1.00
R4576:Pnpla2 UTSW 7 141457344 missense probably damaging 1.00
R4577:Pnpla2 UTSW 7 141457344 missense probably damaging 1.00
R4646:Pnpla2 UTSW 7 141458661 missense possibly damaging 0.69
R4677:Pnpla2 UTSW 7 141458443 missense probably damaging 1.00
R4934:Pnpla2 UTSW 7 141458172 missense probably damaging 1.00
R5011:Pnpla2 UTSW 7 141459291 critical splice donor site probably null
R5334:Pnpla2 UTSW 7 141459493 missense probably damaging 0.97
R6331:Pnpla2 UTSW 7 141459285 missense probably damaging 0.99
R7361:Pnpla2 UTSW 7 141457431 missense possibly damaging 0.77
R8066:Pnpla2 UTSW 7 141459668 makesense probably null
X0020:Pnpla2 UTSW 7 141459660 missense probably damaging 0.96
Predicted Primers
Posted On2014-01-15