Lpin2 - SNV Details



 Human Rare Diseases 
Majeed syndrome

 Gene Information 
Gene Name Lpin2
Old Gene Names for Lpin2 2610511g02rik , Aw742896 , Ai481352
Gene Description lipin 2 [Source:MGI Symbol;Acc:MGI:1891341]
Uniprot Name
CCDS Name
Gene GO
transcription coactivator activity; phosphatidate phosphatase activity; lipid metabolic process; positive regulation of transcription from RNA polymerase II promoter; dephosphorylation; fatty acid metabolic process; endoplasmic reticulum membrane; nucleus; cytosol; transcription
DNA-templated
Homolog in other species LPIN2
Omim http://omim.org/entry/605519
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE)
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024052
Chromosome 17
Coordinate 71,243,972     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 250
Allele Frequency
C:R0.61
A:V0.38
Amino Acid Change T->K (Threonine -> Lysine)
Sample ID IGL00333
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved