Mutagenetix > Incidental Mutation

Incidental Mutation 'RF058:Chga'

605334

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 #

RF058 (G1)

Quality Score

210.468

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: 98.7%

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: 22 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
3110021N24Rik	GAGCGCGGCC	G	4: 108,637,826 (GRCm39)	probably benign	Het
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG	6: 131,529,850 (GRCm39)	probably benign	Het
5430401F13Rik	CAG	CAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,864 (GRCm39)	probably benign	Het
Alg9	GGC	GGCTGC	9: 50,686,727 (GRCm39)	probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 5,045,858 (GRCm39)	probably benign	Het
Chd4	GC	GCTCCCTC	6: 125,099,094 (GRCm39)	probably benign	Het
Cort	GCCCACTCGT	G	4: 149,209,869 (GRCm39)	probably benign	Het
Flywch1	GT	GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT	17: 23,981,151 (GRCm39)	probably null	Het
Gab3	TCT	TCTACT	X: 74,043,608 (GRCm39)	probably benign	Het
Gabre	C	CCGGCTG	X: 71,313,669 (GRCm39)	probably benign	Het
Haus4	CACTTAAAAAAAAAA	CA	14: 54,787,492 (GRCm39)	probably benign	Het
Il2	AG	AGGGCTTGAAGTGG	3: 37,179,966 (GRCm39)	probably benign	Het
Il2	CTTGAAGTGG	CTTGAAGTGGGGATTGAAGTGG	3: 37,179,970 (GRCm39)	probably benign	Het
Kri1	TCCTCCTCC	TC	9: 21,192,362 (GRCm39)	probably null	Het
Krtap28-10	ACAGCCACCACAGCCACAGCCACCACAGC	ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC	1: 83,019,983 (GRCm39)	probably benign	Het
Mbd1	CGTCTTCGTCTGCATCTGCATCTGCA	C	18: 74,406,680 (GRCm39)	probably null	Het
Nefh	CCTC	CCTCGCCTGGGGACTTGGACTC	11: 4,891,021 (GRCm39)	probably benign	Het
Rtbdn	GCAGCG	GCAGCGACAGCG	8: 85,682,801 (GRCm39)	probably benign	Het
Setd1a	GTGGTGGT	GTGGTGGTATTGGTGGT	7: 127,384,490 (GRCm39)	probably benign	Het
Treml1	ACCT	A	17: 48,666,975 (GRCm39)	probably null	Het
Triobp	CTCCCTGTGCCCAAC	CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC	15: 78,851,244 (GRCm39)	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,899,735 (GRCm39)	probably benign	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
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
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'- GTATAGCTGAGAGCCTGTACC -3'
(R):5'- GCGTCTGCAAACACAAATGG -3'

Sequencing Primer
(F):5'- TGAGAGCCTGTACCCTCAAG -3'
(R):5'- TCCTGAGGCCAAGTTCAATG -3'

Posted On

2019-12-04