|Institutional Source||Beutler Lab|
|Gene Name||chromogranin A|
|Is this an essential gene?||Probably non essential (E-score: 0.074)|
|Stock #||R5507 (G1)|
|Chromosomal Location||102554969-102565028 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 102562609 bp|
|Amino Acid Change||Serine to Proline at position 282 (S282P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021610]|
|Predicted Effect||probably benign
AA Change: S282P
PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: S282P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1408|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: This gene encodes a member of the granin family of acidic secretory glycoproteins that are expressed in endocrine cells and neurons. The encoded preproprotein undergoes proteolytic processing to generate multiple functions peptides including pancreastatin, catestatin and serpinin. The encoded protein plays important roles in the neuroendocrine system including regulated secretion of peptide hormones and neurotransmitters. Mice lacking the encoded protein exhibit elevated blood pressure which can be rescued by transgenic expression of the human ortholog. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes and heterozygotes for one allele display hypertension, abnormal plasma and adrenal adrenaline and noradrenaline levels and, in homozygotes, partial embryonic lethality. Homozygotes for a second allele only have elevated urinary adrenaline, noradrenaline and dopamine levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chga||
(F):5'- AGCTCCTTTGAGGTTTGCAG -3'
(R):5'- CCAGGATCTCTGAAGCCATAGG -3'
(F):5'- GCAGGGTCTTGCTTCATGCTC -3'
(R):5'- AGCTTCATGGAGCGGTCAG -3'