Incidental Mutation 'IGL01713:Pnpla1'
ID104854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnpla1
Ensembl Gene ENSMUSG00000043286
Gene Namepatatin-like phospholipase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01713
Quality Score
Status
Chromosome17
Chromosomal Location28858411-28890308 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 28881605 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 482 (D482V)
Ref Sequence ENSEMBL: ENSMUSP00000110385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056866] [ENSMUST00000114737]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056866
AA Change: D482V

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: D482V

DomainStartEndE-ValueType
Pfam:Patatin 16 183 1.4e-14 PFAM
low complexity region 443 454 N/A INTRINSIC
low complexity region 462 479 N/A INTRINSIC
low complexity region 549 564 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114737
AA Change: D482V

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: D482V

DomainStartEndE-ValueType
Pfam:Patatin 16 183 9.3e-15 PFAM
low complexity region 443 454 N/A INTRINSIC
low complexity region 462 479 N/A INTRINSIC
low complexity region 549 564 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality; shiny, red, dry, wrinkled and non-elastic skin; reduced size and weight at birth; fail to suckle; and exhibit skin defects associated with a lack of omega-O-acylceramides. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 131,139,043 I148T possibly damaging Het
Aipl1 A G 11: 72,036,623 C89R probably damaging Het
Apaf1 G A 10: 91,061,832 probably benign Het
Atp7b A G 8: 22,028,573 V83A probably damaging Het
Ccdc180 G T 4: 45,921,025 probably null Het
Crebbp T C 16: 4,128,648 I418V possibly damaging Het
Cyp26b1 G A 6: 84,574,301 P427L probably benign Het
Dnal4 A G 15: 79,762,405 Y92H probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Epha3 G A 16: 63,552,562 T926I probably benign Het
Fgg T C 3: 83,008,416 S55P probably benign Het
Gosr1 A T 11: 76,754,756 M66K probably benign Het
Igkv12-89 G T 6: 68,835,312 probably benign Het
Map3k12 T C 15: 102,502,321 E451G probably damaging Het
Phkg1 T C 5: 129,866,873 E179G probably benign Het
Pramel1 T C 4: 143,397,082 V109A probably benign Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Pus7l T C 15: 94,531,612 T442A probably benign Het
Sall3 A G 18: 80,969,847 S1125P probably damaging Het
Scyl2 A C 10: 89,654,225 I150S probably damaging Het
Sf1 T A 19: 6,374,289 probably null Het
Slco1a6 A G 6: 142,086,567 S611P possibly damaging Het
Vmn2r103 G T 17: 19,794,068 C374F probably damaging Het
Xntrpc T C 7: 102,083,852 probably benign Het
Other mutations in Pnpla1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Pnpla1 APN 17 28877442 missense probably damaging 1.00
IGL02972:Pnpla1 APN 17 28886947 missense probably null 0.65
IGL03350:Pnpla1 APN 17 28876992 missense probably damaging 1.00
R0335:Pnpla1 UTSW 17 28886878 missense possibly damaging 0.48
R1727:Pnpla1 UTSW 17 28878534 missense probably benign 0.30
R3620:Pnpla1 UTSW 17 28877388 missense probably damaging 1.00
R3621:Pnpla1 UTSW 17 28877388 missense probably damaging 1.00
R4831:Pnpla1 UTSW 17 28878544 missense probably benign 0.28
R5011:Pnpla1 UTSW 17 28885584 missense possibly damaging 0.57
R5042:Pnpla1 UTSW 17 28881047 missense probably benign
R5068:Pnpla1 UTSW 17 28879423 splice site probably null
R5690:Pnpla1 UTSW 17 28878372 missense probably damaging 1.00
R5886:Pnpla1 UTSW 17 28876863 missense possibly damaging 0.63
R6269:Pnpla1 UTSW 17 28881368 missense probably benign 0.00
R6270:Pnpla1 UTSW 17 28881368 missense probably benign 0.00
R6271:Pnpla1 UTSW 17 28881368 missense probably benign 0.00
R6272:Pnpla1 UTSW 17 28881368 missense probably benign 0.00
R6369:Pnpla1 UTSW 17 28878481 missense probably damaging 1.00
R6611:Pnpla1 UTSW 17 28881047 missense probably benign
R6962:Pnpla1 UTSW 17 28878481 missense probably damaging 1.00
R7359:Pnpla1 UTSW 17 28881185 missense probably benign 0.25
R7400:Pnpla1 UTSW 17 28858976 missense probably damaging 1.00
R7444:Pnpla1 UTSW 17 28878481 missense possibly damaging 0.95
R7507:Pnpla1 UTSW 17 28876817 missense not run
R7513:Pnpla1 UTSW 17 28858807
X0019:Pnpla1 UTSW 17 28881067 missense possibly damaging 0.86
Posted On2014-01-21