Mutagenetix > Incidental Mutation

Incidental Mutation 'RF054:Chga'

605213

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: 0.077) question?

Stock #

RF054 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

102554969-102565028 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

AGC to AGCTGC at 102561423 bp (GRCm38)

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: 24 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Ankhd1	CGGC	CGGCGGAGGC	18: 36,560,929	probably benign	Het
Bean1	CT	C	8: 104,182,032	probably null	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 120,072,968	probably benign	Het
Dmkn	GAAGTGGTGGAAGTGGTGG	GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG	7: 30,767,188	probably benign	Het
Dnmt1	CCTCGTT	CCTCGTTTTGGGGGCGGAGCACAGTTCCTAGCTCGTT	9: 20,910,139	probably null	Het
Epha8	CCTGGGC	CC	4: 136,933,037	probably benign	Het
F830016B08Rik	AAAAAA	AAAAAAAAA	18: 60,299,938	probably benign	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416	probably benign	Het
Gm8369	GTGT	GTGTCTGT	19: 11,511,764	probably null	Het
Lce1m	CAC	CACCGCTGCGGCGAC	3: 93,018,298	probably benign	Het
Lrmp	ATTG	ATTGAGCACTTTG	6: 145,173,788	probably benign	Het
Lypd8	TC	TCGCCTCTGTTACCCCACAAATCACCAACACCTCCCCC	11: 58,390,251	probably benign	Het
Nefh	GGGACT	GGGACTGGGCCTCACCTGCGGACT	11: 4,941,048	probably benign	Het
Prp2	CTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCT	C	6: 132,600,521	probably null	Het
Rassf6	TCACTCATGGTCCTGTAGAGCAATGGGGATTC	TCACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCCCACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,911	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,608,924	probably benign	Het
Rassf6	CAATGGGGATTC	CAATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGAAATGGGGATTC	5: 90,608,931	probably benign	Het
Sbp	GATGCTGACAACAAA	GATGCTGACAACAAATATGCTGACAACAAA	17: 23,945,371	probably benign	Het
Six3	GCG	GCGCCG	17: 85,621,355	probably benign	Het
Tfeb	CAG	CAGTAG	17: 47,786,098	probably null	Het
Thbs1	TGACCTTAG	TG	2: 118,122,865	probably benign	Het
Tob1	GCA	GCACCA	11: 94,214,461	probably benign	Het
Ubqln3	AACAC	A	7: 104,141,178	probably null	Het
Zfhx3	AACAGCAGC	AACAGCAGCCACAGCAGC	8: 108,956,096	probably benign	Het

Other mutations in Chga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8505:Chga	UTSW	12	102561745	missense	probably damaging	0.98
R8878:Chga	UTSW	12	102561461	missense	possibly damaging	0.84
R9043:Chga	UTSW	12	102562795	missense	possibly damaging	0.78
R9139:Chga	UTSW	12	102561885	missense	probably benign	0.45
R9346:Chga	UTSW	12	102559289	missense	probably damaging	0.99
R9764:Chga	UTSW	12	102559354	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
RF049:Chga	UTSW	12	102561393	small insertion	probably benign
RF052:Chga	UTSW	12	102561416	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'- ATAGCTGAGAGCCTGTACCC -3'
(R):5'- CGTCTGCAAACACAAATGGATAGG -3'

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

Posted On

2019-12-04