Mutagenetix > Incidental Mutation

Incidental Mutation 'RF052:Chga'

605169

Institutional Source

Beutler Lab

Gene Symbol

Chga

Ensembl Gene

ENSMUSG00000021194

Gene Name

chromogranin A

Synonyms

ChrA

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

RF052 (G1)

Quality Score

181.468

Status

Not validated

Chromosome

Chromosomal Location

102521228-102531287 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CAG to CAGAAG at 102527675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021610]

AlphaFold

P26339

Predicted Effect

probably benign
Transcript: ENSMUST00000021610

SMART Domains

Protein: ENSMUSP00000021610
Gene: ENSMUSG00000021194

Domain	Start	End	E-Value	Type
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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	CCGCCCACG	CCGCCCACGCCCACG	16: 56,447,948 (GRCm39)		probably benign	Het
Chd4	CC	CCACTGGC	6: 125,099,108 (GRCm39)		probably benign	Het
Cnpy3	CTC	CTCATC	17: 47,047,674 (GRCm39)		probably benign	Het
Cyb5r4	GGATGTGACAGACACACTGCCCAG	GGATGTGACAGACACACTGCCCAGTGATGTGACAGACACACTGCCCAG	9: 86,922,475 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,589 (GRCm39)		probably benign	Het
Gabre	GGCTCC	GGCTCCTGCTCC	X: 71,313,653 (GRCm39)		probably benign	Het
Gm5591	CACAGGCAGA	CA	7: 38,221,999 (GRCm39)		probably null	Het
Irag2	A	ACCCC	6: 145,106,257 (GRCm39)		probably benign	Het
Lkaaear1	C	T	2: 181,339,226 (GRCm39)	D75N	probably damaging	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Nusap1	ACGTTAGCAGTGAGGAGCAAGCTGAGA	ACGTTAGCAGTGAGGAGCAAGCTGAGATACGCGTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,065 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Rassf6	CATGGTCCTGTAGAGCAATGGGGATTC	CATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTAATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,775 (GRCm39)		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,756,782 (GRCm39)		probably benign	Het
Setd1a	G	GTGGTGGTGT	7: 127,384,529 (GRCm39)		probably benign	Het
Supt20	AGCAGC	AGCAGCCGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Tnfaip8	ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,900 (GRCm39)		probably null	Het

Other mutations in Chga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Chga	APN	12	102,529,058 (GRCm39)	missense	probably damaging	0.98
IGL02674:Chga	APN	12	102,529,160 (GRCm39)	missense	probably damaging	1.00
FR4589:Chga	UTSW	12	102,527,661 (GRCm39)	small insertion	probably benign
R0018:Chga	UTSW	12	102,524,764 (GRCm39)	missense	probably damaging	0.97
R0463:Chga	UTSW	12	102,529,210 (GRCm39)	nonsense	probably null
R1164:Chga	UTSW	12	102,529,304 (GRCm39)	missense	probably damaging	1.00
R1603:Chga	UTSW	12	102,530,866 (GRCm39)	splice site	probably null
R1727:Chga	UTSW	12	102,527,696 (GRCm39)	missense	possibly damaging	0.85
R1778:Chga	UTSW	12	102,527,959 (GRCm39)	missense	probably benign
R1800:Chga	UTSW	12	102,522,164 (GRCm39)	missense	probably damaging	0.99
R2071:Chga	UTSW	12	102,529,122 (GRCm39)	missense	probably damaging	1.00
R3415:Chga	UTSW	12	102,529,043 (GRCm39)	missense	probably benign	0.00
R3696:Chga	UTSW	12	102,527,724 (GRCm39)	missense	probably damaging	0.98
R5022:Chga	UTSW	12	102,529,096 (GRCm39)	missense	probably damaging	1.00
R5507:Chga	UTSW	12	102,528,868 (GRCm39)	missense	probably benign	0.39
R5959:Chga	UTSW	12	102,528,114 (GRCm39)	missense	probably benign
R7338:Chga	UTSW	12	102,529,100 (GRCm39)	missense	probably damaging	1.00
R7410:Chga	UTSW	12	102,528,866 (GRCm39)	missense	probably benign	0.00
R7694:Chga	UTSW	12	102,527,606 (GRCm39)	missense	probably benign	0.05
R8084:Chga	UTSW	12	102,528,328 (GRCm39)	missense	probably benign	0.29
R8211:Chga	UTSW	12	102,527,678 (GRCm39)	missense	possibly damaging	0.71
R8505:Chga	UTSW	12	102,528,004 (GRCm39)	missense	probably damaging	0.98
R8878:Chga	UTSW	12	102,527,720 (GRCm39)	missense	possibly damaging	0.84
R9043:Chga	UTSW	12	102,529,054 (GRCm39)	missense	possibly damaging	0.78
R9139:Chga	UTSW	12	102,528,144 (GRCm39)	missense	probably benign	0.45
R9346:Chga	UTSW	12	102,525,548 (GRCm39)	missense	probably damaging	0.99
R9764:Chga	UTSW	12	102,525,613 (GRCm39)	missense	possibly damaging	0.71
RF001:Chga	UTSW	12	102,527,682 (GRCm39)	small insertion	probably benign
RF002:Chga	UTSW	12	102,527,680 (GRCm39)	small insertion	probably benign
RF006:Chga	UTSW	12	102,527,671 (GRCm39)	small insertion	probably benign
RF009:Chga	UTSW	12	102,527,679 (GRCm39)	small insertion	probably benign
RF010:Chga	UTSW	12	102,527,662 (GRCm39)	small insertion	probably benign
RF014:Chga	UTSW	12	102,527,664 (GRCm39)	small insertion	probably benign
RF014:Chga	UTSW	12	102,527,652 (GRCm39)	small insertion	probably benign
RF015:Chga	UTSW	12	102,527,679 (GRCm39)	small insertion	probably benign
RF022:Chga	UTSW	12	102,527,679 (GRCm39)	small insertion	probably benign
RF033:Chga	UTSW	12	102,527,655 (GRCm39)	small insertion	probably benign
RF035:Chga	UTSW	12	102,527,686 (GRCm39)	small insertion	probably benign
RF044:Chga	UTSW	12	102,527,655 (GRCm39)	small insertion	probably benign
RF048:Chga	UTSW	12	102,527,680 (GRCm39)	small insertion	probably benign
RF048:Chga	UTSW	12	102,527,662 (GRCm39)	small insertion	probably benign
RF049:Chga	UTSW	12	102,527,652 (GRCm39)	small insertion	probably benign
RF054:Chga	UTSW	12	102,527,682 (GRCm39)	small insertion	probably benign
RF056:Chga	UTSW	12	102,527,683 (GRCm39)	small insertion	probably benign
RF058:Chga	UTSW	12	102,527,675 (GRCm39)	small insertion	probably benign
RF060:Chga	UTSW	12	102,527,683 (GRCm39)	small insertion	probably benign
RF061:Chga	UTSW	12	102,527,686 (GRCm39)	small insertion	probably benign
RF061:Chga	UTSW	12	102,527,672 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GAACTTTCTCACATTTCCCACTAGG -3'
(R):5'- AGCTGACTTCCTGCTGTGAAG -3'

Sequencing Primer
(F):5'- CACTGAGTCAGAGGGGTGGTG -3'
(R):5'- CTTCCTGCTGTGAAGAAGCAG -3'

Posted On

2019-12-04