Mutagenetix > Incidental Mutation

Incidental Mutation 'RF048:Chga'

605082

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 #

RF048 (G1)

Quality Score

140.467

Status

Not validated

Chromosome

Chromosomal Location

102521228-102531287 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCA to GCACCA at 102527662 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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	GAGCTGA	G	4: 63,296,078 (GRCm39)		probably benign	Het
Celf4	G	T	18: 25,634,378 (GRCm39)	P326T	probably benign	Het
Cntnap1	TTT	TTTTGTT	11: 101,071,131 (GRCm39)		probably benign	Het
Cntnap1	AACCCC	AACCCCCACCCC	11: 101,080,389 (GRCm39)		probably benign	Het
Dnaaf9	CATC	CATCATC	2: 130,612,654 (GRCm39)		probably null	Het
Dnmt1	AGCACAGTTCCTACCTCGTT	AGCACAGTTCCTACCTCGTTTTGGGGGCGGGGCACAGTTCCTACCTCGTT	9: 20,821,422 (GRCm39)		probably null	Het
Gar1	CGCCGCCG	C	3: 129,624,349 (GRCm39)		probably null	Het
Gm15155	AA	AACAACAAA	X: 155,128,637 (GRCm39)		probably null	Het
Irag2	GCACATTG	GCACATTGAACACATTG	6: 145,119,510 (GRCm39)		probably benign	Het
Mamld1	CA	CAGTA	X: 70,162,458 (GRCm39)		probably null	Het
Ncoa6	CTGTTG	CTG	2: 155,263,632 (GRCm39)		probably benign	Het
Nefh	CCTCAGCTGG	CCTCAGCTGGAGACTTGGGCTCAGCTGG	11: 4,891,003 (GRCm39)		probably benign	Het
Nefh	AGCTGGGGAC	AGCTGGGGACCTGGCCTCAGCTGGGGAC	11: 4,891,007 (GRCm39)		probably benign	Het
Nphs2	GCCACC	GCCACCCGAGGGGAGCCCCGAGCTCCAGCCTCCACC	1: 156,138,541 (GRCm39)		probably benign	Het
Nup155	T	TTTTTTG	15: 8,148,660 (GRCm39)		probably benign	Het
Nusap1	AGCAAGCTGAGA	AGCAAGCTGAGATACACGTTAGCATTGAGGCGCAAGCTGAGA	2: 119,458,080 (GRCm39)		probably benign	Het
Pdik1l	TGTTTT	TGTTTTGTTTTGGTTTT	4: 134,006,683 (GRCm39)		probably null	Het
Polr1has	CCACCACCACCAC	CCACCACCACCACCCCCACCCACACCACCACCAC	17: 37,275,951 (GRCm39)		probably benign	Het
Rnf144a	CTCTCTC	CTCTCTCTCTCTCTATCTCTC	12: 26,364,010 (GRCm39)		probably benign	Het
Sbp	G	GCTGACAACAAAGATT	17: 24,164,363 (GRCm39)		probably benign	Het
Strn	TC	TCCGTGCTCCCTTACCCCAGTGCGTGCGCCCTTACCCCAGAC	17: 78,984,716 (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
RF049:Chga	UTSW	12	102,527,652 (GRCm39)	small insertion	probably benign
RF052:Chga	UTSW	12	102,527,675 (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'- GGCCTTTATTGCTCTCTAAGGTAC -3'
(R):5'- GTGAAGAAGCAGCATCACCTG -3'

Sequencing Primer
(F):5'- TGCTCTCTAAGGTACAAGTAGAAC -3'
(R):5'- GCATCACCTGGGGACTACTGTTC -3'

Posted On

2019-12-04