|Institutional Source||Beutler Lab|
|Gene Name||patatin-like phospholipase domain containing 1|
|Is this an essential gene?||Probably non essential (E-score: 0.112)|
|Stock #||R3620 (G1)|
|Chromosomal Location||28858411-28890308 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 28877388 bp|
|Amino Acid Change||Alanine to Valine at position 147 (A147V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050123 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056866] [ENSMUST00000114737]|
|Predicted Effect||probably damaging
AA Change: A147V
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: A147V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2|
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
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||
|Other mutations in Pnpla1||
(F):5'- TCCGGTAGATTACTAAGGCCC -3'
(R):5'- ACGCTGACTTCTGGGAGAAC -3'
(F):5'- GTAGATTACTAAGGCCCCAACTAGG -3'
(R):5'- GGCAACCTTGGGACTTTGAC -3'