Incidental Mutation 'RF049:Chga'
ID605108
Institutional Source Beutler Lab
Gene Symbol Chga
Ensembl Gene ENSMUSG00000021194
Gene Namechromogranin A
SynonymsChrA
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #RF049 (G1)
Quality Score183.468
Status Not validated
Chromosome12
Chromosomal Location102554969-102565028 bp(+) (GRCm38)
Type of Mutationsmall insertion (1 aa in frame mutation)
DNA Base Change (assembly) AGC to AGCCGC at 102561393 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021610]
Predicted Effect probably benign
Transcript: ENSMUST00000021610
SMART Domains Protein: ENSMUSP00000021610
Gene: ENSMUSG00000021194

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Granin 25 95 3e-26 PFAM
Pfam:Granin 87 463 1.7e-95 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype 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
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b GTAGGA G 5: 25,848,488 probably benign Het
Ankhd1 CGGCGG CGGCGGAGGCGG 18: 36,560,923 probably benign Het
Begain GCGCCCCCGCC GCGCCCCCGCCCCCGCC 12: 109,033,414 probably benign Het
Cdx1 GGGGCTG GGGGCTGGGGCTG 18: 61,019,866 probably benign Het
Cntnap1 CAGCC CAGCCCTAGCC 11: 101,189,592 probably benign Het
Cntnap1 C CCCAGCA 11: 101,189,596 probably benign Het
Flywch1 CCTGGTGT CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT 17: 23,762,171 probably null Het
Gabre CTCAGGCTGGGG C X: 72,270,277 probably null Het
Hsdl2 AGCTGCAGGAGCAGCCACAGCTGCAGGAG AGCTGCAGGAGCCGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAG 4: 59,610,633 probably benign Het
Hsdl2 AG AGATGCAGCAGCAGCCACGG 4: 59,610,651 probably benign Het
Krtap28-10 CACAGC CACAGCAACAGC 1: 83,042,138 probably benign Het
Krtap28-10 CACAGC CACAGCCACAGCCACAACAGC 1: 83,042,285 probably benign Het
Lkaaear1 CTCCAGCTCCAGCTCCAGCTCCAG CTCCAGCTCCAGTTCCAGCTCCAGCTCCAGCTCCAG 2: 181,697,574 probably benign Het
Mamld1 GCA GCATCA X: 71,118,833 probably benign Het
Mamld1 GCA GCATCA X: 71,118,845 probably benign Het
Med12l CAG CAGAAG 3: 59,275,969 probably benign Het
Nefh ACTTGGCCTCAGCTGG ACTTGGCCTCAGCTGGAGCCTTGGCCTCAGCTGG 11: 4,940,997 probably benign Het
Nusap1 CACGTTAGCAGTGAGGAGCAAGCTGAGA CACGTTAGCAGTCAGGAGCAAGCTGAGATAGACGTTAGCAGTGAGGAGCAAGCTGAGA 2: 119,627,583 probably benign Het
Rassf6 ACTCATGGTCCTGTAGAGCAATGGGGATTC ACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCGCTCATGGTCCTGTAGAGCAATGGGGATTC 5: 90,608,913 probably benign Het
Sfswap TCGGCCCACTCAGCCCACTCGGCC TCGGCCCACTCGGCCCACTCAGCCCACTCGGCC 5: 129,569,744 probably benign Het
Sirpa TCATCAG T 2: 129,609,203 probably null Het
Tanc1 GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA G 2: 59,843,269 probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 15: 72,801,301 probably benign Het
Trappc9 CTGCTGCTGCTGCTG CTGCTGCTGCTGCTGATGCTGCTGCTGCTG 15: 72,801,306 probably benign Het
Triobp GACAA GACAACCCCAGGACTCCCTGTACCCAACGGAACAA 15: 78,967,061 probably benign Het
Tspan33 G GCTGT 6: 29,709,998 probably benign Het
Vmn1r74 CAGAGCCACCAAGTACCT C 7: 11,847,140 probably null Het
Zkscan4 AAAAA AAAAAA 13: 21,484,711 probably null Het
Other mutations in Chga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Chga APN 12 102562799 missense probably damaging 0.98
IGL02674:Chga APN 12 102562901 missense probably damaging 1.00
FR4589:Chga UTSW 12 102561402 small insertion probably benign
R0018:Chga UTSW 12 102558505 missense probably damaging 0.97
R0463:Chga UTSW 12 102562951 nonsense probably null
R1164:Chga UTSW 12 102563045 missense probably damaging 1.00
R1603:Chga UTSW 12 102564607 splice site probably null
R1727:Chga UTSW 12 102561437 missense possibly damaging 0.85
R1778:Chga UTSW 12 102561700 missense probably benign
R1800:Chga UTSW 12 102555905 missense probably damaging 0.99
R2071:Chga UTSW 12 102562863 missense probably damaging 1.00
R3415:Chga UTSW 12 102562784 missense probably benign 0.00
R3696:Chga UTSW 12 102561465 missense probably damaging 0.98
R5022:Chga UTSW 12 102562837 missense probably damaging 1.00
R5507:Chga UTSW 12 102562609 missense probably benign 0.39
R5959:Chga UTSW 12 102561855 missense probably benign
R7338:Chga UTSW 12 102562841 missense probably damaging 1.00
R7410:Chga UTSW 12 102562607 missense probably benign 0.00
R7694:Chga UTSW 12 102561347 missense probably benign 0.05
R8084:Chga UTSW 12 102562069 missense probably benign 0.29
R8211:Chga UTSW 12 102561419 missense possibly damaging 0.71
RF001:Chga UTSW 12 102561423 small insertion probably benign
RF002:Chga UTSW 12 102561421 small insertion probably benign
RF006:Chga UTSW 12 102561412 small insertion probably benign
RF009:Chga UTSW 12 102561420 small insertion probably benign
RF010:Chga UTSW 12 102561403 small insertion probably benign
RF014:Chga UTSW 12 102561393 small insertion probably benign
RF014:Chga UTSW 12 102561405 small insertion probably benign
RF015:Chga UTSW 12 102561420 small insertion probably benign
RF022:Chga UTSW 12 102561420 small insertion probably benign
RF033:Chga UTSW 12 102561396 small insertion probably benign
RF035:Chga UTSW 12 102561427 small insertion probably benign
RF044:Chga UTSW 12 102561396 small insertion probably benign
RF048:Chga UTSW 12 102561403 small insertion probably benign
RF048:Chga UTSW 12 102561421 small insertion probably benign
RF052:Chga UTSW 12 102561416 small insertion probably benign
RF054:Chga UTSW 12 102561423 small insertion probably benign
RF056:Chga UTSW 12 102561424 small insertion probably benign
RF058:Chga UTSW 12 102561416 small insertion probably benign
RF060:Chga UTSW 12 102561424 small insertion probably benign
RF061:Chga UTSW 12 102561413 small insertion probably benign
RF061:Chga UTSW 12 102561427 small insertion probably benign
Predicted Primers PCR Primer
(F):5'- GGGCCTTTATTGCTCTCTAAGG -3'
(R):5'- TCACCTGGGGACTACTGTTCTC -3'

Sequencing Primer
(F):5'- GCCTTTATTGCTCTCTAAGGTACAAG -3'
(R):5'- GGGACTACTGTTCTCCTTGTAGC -3'
Posted On2019-12-04