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; protein binding; endopeptidase activity; extracellular region; proteolysis; response to follicle-stimulating hormone; extracellular space; response to glucocorticoid
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 65,261,980     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:R0.44
C:V0.56
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02903
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved