Incidental Mutation 'R4576:Pnpla2'
ID 342473
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 041799-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R4576 (G1)
Quality Score 225
Status Validated
Chromosome 7
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] [ENSMUST00000165487] [ENSMUST00000169665] [ENSMUST00000165194] [ENSMUST00000164924] [ENSMUST00000167491]
AlphaFold Q8BJ56
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: S87P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509
AA Change: S87P

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: S87P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: S87P

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 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

DomainStartEndE-ValueType
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: ENSMUST00000164924
SMART Domains Protein: ENSMUSP00000129632
Gene: ENSMUSG00000025509

DomainStartEndE-ValueType
Pfam:Patatin 10 69 4.5e-11 PFAM
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
Meta Mutation Damage Score 0.9183 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (84/86)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,623,979 (GRCm39) D160V probably damaging Het
Ano9 T C 7: 140,684,051 (GRCm39) Q538R probably damaging Het
Atp4a A G 7: 30,417,147 (GRCm39) D510G probably benign Het
Atp8a1 T C 5: 67,973,158 (GRCm39) probably benign Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
C7 A G 15: 5,032,238 (GRCm39) S658P probably damaging Het
Cdh9 T C 15: 16,832,325 (GRCm39) V404A possibly damaging Het
Cfap54 C T 10: 92,879,090 (GRCm39) probably null Het
Chml G T 1: 175,514,506 (GRCm39) Q129K probably damaging Het
Chst2 T C 9: 95,287,224 (GRCm39) H374R probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Cirbp A G 10: 80,006,075 (GRCm39) K84E probably damaging Het
Cln6 G T 9: 62,746,231 (GRCm39) Q23H probably benign Het
Cntn5 A G 9: 9,673,297 (GRCm39) M801T probably benign Het
Dapk1 A T 13: 60,869,636 (GRCm39) M293L probably benign Het
Ddx11 A G 17: 66,457,721 (GRCm39) K869E probably damaging Het
Ddx17 A T 15: 79,425,347 (GRCm39) M108K probably benign Het
Dnaaf5 C A 5: 139,171,394 (GRCm39) A557D probably damaging Het
Ecpas A T 4: 58,834,708 (GRCm39) probably benign Het
Edil3 T C 13: 89,467,850 (GRCm39) Y452H probably damaging Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Enah G A 1: 181,747,128 (GRCm39) S298L possibly damaging Het
Exoc7 T C 11: 116,180,009 (GRCm39) *685W probably null Het
Fgfbp1 C T 5: 44,136,806 (GRCm39) R162H probably benign Het
Foxj3 A G 4: 119,478,860 (GRCm39) S439G unknown Het
Fzd9 A G 5: 135,279,166 (GRCm39) S240P probably damaging Het
Gin1 A G 1: 97,720,064 (GRCm39) D442G probably damaging Het
Gm10804 C T 2: 93,299,014 (GRCm39) noncoding transcript Het
Grhl3 G T 4: 135,288,562 (GRCm39) T41K probably damaging Het
H6pd A T 4: 150,078,933 (GRCm39) D243E probably damaging Het
Heatr6 T A 11: 83,655,826 (GRCm39) S306T probably benign Het
Hkdc1 T C 10: 62,221,622 (GRCm39) D812G possibly damaging Het
Hmcn1 G T 1: 150,610,238 (GRCm39) T1477K probably benign Het
Ift80 A G 3: 68,857,863 (GRCm39) S261P possibly damaging Het
Kcnu1 A T 8: 26,380,048 (GRCm39) D424V probably benign Het
Kctd1 A G 18: 15,140,757 (GRCm39) S658P probably damaging Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Llph-ps2 A G X: 13,084,690 (GRCm39) noncoding transcript Het
Lpxn T C 19: 12,810,654 (GRCm39) I366T probably benign Het
Lrp1 ACAGGCGC AC 10: 127,376,057 (GRCm39) probably benign Het
Maml3 G A 3: 51,763,927 (GRCm39) Q346* probably null Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mlc1 G A 15: 88,858,740 (GRCm39) T136M probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Pcdhga9 A C 18: 37,870,881 (GRCm39) N237H probably damaging Het
Pde4dip C A 3: 97,661,565 (GRCm39) E657D probably damaging Het
Pknox2 A G 9: 36,834,844 (GRCm39) probably benign Het
Plcb3 C T 19: 6,936,415 (GRCm39) probably benign Het
Plxnd1 G A 6: 115,945,005 (GRCm39) A99V probably benign Het
Ppp1r14c G T 10: 3,316,912 (GRCm39) K82N probably damaging Het
Pum3 G A 19: 27,393,308 (GRCm39) T389M probably benign Het
Pxdn A T 12: 30,061,922 (GRCm39) T1165S probably benign Het
Rasgrf2 T C 13: 92,044,529 (GRCm39) D925G possibly damaging Het
Samhd1 A T 2: 156,943,670 (GRCm39) C615S probably damaging Het
Sec16a A T 2: 26,321,131 (GRCm39) Y1320* probably null Het
Slco6b1 T A 1: 96,916,422 (GRCm39) noncoding transcript Het
Slitrk6 C A 14: 110,987,602 (GRCm39) V702F probably benign Het
Spata31d1b C A 13: 59,864,675 (GRCm39) H608N probably damaging Het
Spef1l A G 7: 139,558,043 (GRCm39) I51T probably damaging Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Tacc3 T A 5: 33,818,841 (GRCm39) probably benign Het
Tango2 A T 16: 18,119,392 (GRCm39) D146E probably damaging Het
Thbs1 G A 2: 117,949,897 (GRCm39) R624Q probably damaging Het
Tmem161a T C 8: 70,634,713 (GRCm39) probably null Het
Tmem175 A G 5: 108,792,468 (GRCm39) D248G possibly damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Trip11 G A 12: 101,852,499 (GRCm39) Q521* probably null Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Ttc16 A T 2: 32,660,071 (GRCm39) F246I probably benign Het
Unc79 T C 12: 102,968,062 (GRCm39) probably benign Het
Vmn1r74 A G 7: 11,580,696 (GRCm39) probably null Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly damaging Het
Zc3h4 G A 7: 16,168,579 (GRCm39) R896H unknown Het
Zfp941 T A 7: 140,391,503 (GRCm39) K619* probably null Het
Zfp970 A T 2: 177,167,473 (GRCm39) H349L probably damaging Het
Other mutations in Pnpla2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCCATCTGAGTATATCCTGGGTG -3'
(R):5'- CACAGGGTAGTAGACAAGGCTC -3'

Sequencing Primer
(F):5'- ATATCCTGGGTGTGGAGTCC -3'
(R):5'- AACACGGTGTCTGCAGTG -3'
Posted On 2015-09-24