Incidental Mutation 'IGL02267:Pnpla2'
ID286936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnpla2
Ensembl Gene ENSMUSG00000025509
Gene Namepatatin-like phospholipase domain containing 2
SynonymsAtgl, 0610039C21Rik, 1110001C14Rik, desnutrin
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.346) question?
Stock #IGL02267
Quality Score
Status
Chromosome7
Chromosomal Location141455198-141460743 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 141458209 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 197 (P197T)
Ref Sequence ENSEMBL: ENSMUSP00000127983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026583] [ENSMUST00000053670] [ENSMUST00000064151] [ENSMUST00000164016] [ENSMUST00000164924] [ENSMUST00000165194] [ENSMUST00000165487] [ENSMUST00000167491] [ENSMUST00000169665] [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 damaging
Transcript: ENSMUST00000064151
AA Change: P231T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
AA Change: P231T

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 damaging
Transcript: ENSMUST00000164016
AA Change: P231T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: P231T

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 damaging
Transcript: ENSMUST00000169665
AA Change: P197T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509
AA Change: P197T

DomainStartEndE-ValueType
Pfam:Patatin 10 249 3.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169723
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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,792,678 Q929R probably benign Het
Aplf A T 6: 87,658,964 D122E probably damaging Het
Atp2a3 T A 11: 72,987,984 L874Q probably damaging Het
Atp2b2 A T 6: 113,793,730 L406Q probably damaging Het
Atp6v1b1 A G 6: 83,756,909 D374G probably benign Het
Bcas1 T A 2: 170,378,788 R239* probably null Het
Bhmt2 A G 13: 93,669,346 V56A probably damaging Het
Cage1 T C 13: 38,023,257 E204G probably damaging Het
Ccdc157 G A 11: 4,144,035 A532V probably benign Het
Cd300lb G A 11: 114,928,477 R109* probably null Het
Clca4c-ps T C 3: 144,879,755 noncoding transcript Het
Ctnna3 G T 10: 64,945,998 V747F probably benign Het
Cyp2c29 A T 19: 39,330,422 I488F probably benign Het
Cyp3a25 T C 5: 145,998,552 M85V possibly damaging Het
Dnah7b T A 1: 46,226,930 Y2220N probably damaging Het
Espl1 A G 15: 102,315,664 I1217V probably benign Het
Exoc2 A G 13: 30,815,321 S918P probably benign Het
Fer1l4 T A 2: 156,031,252 I1303F possibly damaging Het
Gm28047 A T 15: 102,547,227 I234K probably damaging Het
Gm4951 T G 18: 60,246,398 V335G probably damaging Het
Gpcpd1 A G 2: 132,568,710 V19A probably damaging Het
Gprin3 A G 6: 59,354,473 V283A probably benign Het
Grb14 A G 2: 64,953,616 Y56H probably damaging Het
Greb1 A G 12: 16,717,208 F331S probably benign Het
Jkamp A G 12: 72,094,817 Y198C probably damaging Het
Klk1b11 G T 7: 43,999,741 C234F probably damaging Het
Nacad T C 11: 6,602,649 T181A probably benign Het
Olfr165 A T 16: 19,407,164 L285Q possibly damaging Het
Olfr382 A G 11: 73,516,549 S217P probably benign Het
Olfr987 T A 2: 85,331,121 Y259F probably damaging Het
Pitpnm3 A T 11: 72,071,448 I227N probably benign Het
Pnn A G 12: 59,070,209 E189G probably damaging Het
Pnpla6 A G 8: 3,517,327 T62A probably benign Het
Ptprq G T 10: 107,646,558 D1051E probably damaging Het
Rag2 C T 2: 101,630,031 R229C probably damaging Het
Serinc1 A T 10: 57,523,108 I196N probably damaging Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc26a9 T C 1: 131,752,845 C43R probably damaging Het
Slc2a3 A T 6: 122,739,972 Y44N probably benign Het
Smad5 T G 13: 56,735,790 probably benign Het
Sugct C A 13: 17,644,865 V132F possibly damaging Het
Supt6 T C 11: 78,226,204 E568G possibly damaging Het
Tfpt T C 7: 3,628,983 T43A probably damaging Het
Timp4 A T 6: 115,247,279 V143E possibly damaging Het
Tns1 T C 1: 73,992,131 D275G possibly damaging Het
Trib1 A G 15: 59,651,600 E161G probably damaging Het
Trpc7 A T 13: 56,860,930 L308Q probably damaging Het
Ush1c A T 7: 46,209,298 V522E possibly damaging Het
Usp28 T C 9: 49,023,965 V449A probably damaging Het
Vmn1r82 A G 7: 12,305,346 Y64C probably damaging Het
Wwox G A 8: 114,712,065 M290I probably benign Het
Other mutations in Pnpla2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1171:Pnpla2 UTSW 7 141458881 missense probably benign 0.05
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
Posted On2015-04-16