Pappa - SNV Details



 Gene Information 
Gene Name Pappa
Old Gene Names for Pappa 8430414n03rik
Gene Description pregnancy-associated plasma protein A [Source:MGI Symbol;Acc:MGI:97479]
MGI phenotype Homozygous null mutants are smaller than normal with delayed ossification, but are otherwise normal and fertile.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; membrane; metallopeptidase activity; metal ion binding; response to glucocorticoid stimulus; protein binding; peptidase activity; endopeptidase activity; extracellular region; response to follicle-stimulating hormone stimulus; proteolysis; extracellular space
Homolog in other species PAPPA
Omim http://omim.org/entry/176385
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028370
Chromosome 4
Coordinate 65,196,808     (Assembly: GRCm38)    
Ref Base A
Codon Change Aga/Gga
Var Base G
Zygosity Heterozygous
Read Depth 53
Allele Frequency
A:R0.62
G:V0.38
Amino Acid Position 714
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL02324
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.11
Polyphen Prediction Benign
Sift Score 0.76
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000081545:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000081545 Superfamily 659
942 Description available Search pathways

 Availability Details 
Availability Cryopreserved