Mutagenetix > Incidental Mutation

Incidental Mutation 'RF010:Chga'

603147

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 #

RF010 (G1)

Quality Score

162.468

Status

Not validated

Chromosome

Chromosomal Location

102521228-102531287 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCA to GCATCA 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: 99.4%
20x: 98.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	17: 35,879,473 (GRCm39)		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Ankrd28	A	G	14: 31,500,943 (GRCm39)	I16T	probably damaging	Het
AY761185	GCACTGTGGGC	G	8: 21,433,927 (GRCm39)		probably null	Het
Bend3	T	A	10: 43,386,180 (GRCm39)	F191Y	possibly damaging	Het
Calhm1	GTGGC	GTGGCTGTGGCTATGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,825,059 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Cngb1	CTCTGGCTCTGGCTCTGGCTCTG	C	8: 96,030,278 (GRCm39)		probably null	Het
Cnot3	T	C	7: 3,659,068 (GRCm39)	V438A	probably benign	Het
Cntnap5c	T	A	17: 58,593,790 (GRCm39)	W710R	probably damaging	Het
Dyrk1a	A	G	16: 94,478,422 (GRCm39)	S404G	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,075 (GRCm39)		probably benign	Het
Flywch1	GTGT	GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT	17: 23,981,149 (GRCm39)		probably null	Het
Fmn2	T	A	1: 174,409,581 (GRCm39)	S605T	unknown	Het
Gab3	TCT	TCTGCT	X: 74,043,617 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,666 (GRCm39)		probably benign	Het
Gli3	A	G	13: 15,900,954 (GRCm39)	Y1447C	probably damaging	Het
Hibch	T	C	1: 52,952,891 (GRCm39)	V297A	probably benign	Het
Ifi213	C	G	1: 173,409,719 (GRCm39)	D462H	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Lce1m	GCTGCTGCC	GCTGCTGCCCCCACTGCTGCC	3: 92,925,597 (GRCm39)		probably benign	Het
Lpo	A	G	11: 87,711,928 (GRCm39)	V43A	probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC	2: 121,136,799 (GRCm39)		probably benign	Het
Mapk9	A	G	11: 49,745,083 (GRCm39)		probably benign	Het
Mep1a	G	A	17: 43,797,126 (GRCm39)	H314Y	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myh3	AC	ACTTCC	11: 66,977,185 (GRCm39)		probably null	Het
Nusap1	ACGTTAGCAGTGAGGAGCAA	ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA	2: 119,458,065 (GRCm39)		probably benign	Het
Or10ag56	T	A	2: 87,139,184 (GRCm39)	V37E	possibly damaging	Het
Or14a259	T	C	7: 86,012,594 (GRCm39)	Q317R	probably benign	Het
Pdcd11	AGGAGG	A	19: 47,101,890 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,027,674 (GRCm39)	I651N	possibly damaging	Het
Phldb3	CCCCCGCCCC	CCCCC	7: 24,325,920 (GRCm39)		probably null	Het
Polr1has	CACCACCAC	CACCACCACCACCACCACCACTACCACCAC	17: 37,275,955 (GRCm39)		probably benign	Het
Prkce	T	C	17: 86,795,627 (GRCm39)	V288A	probably damaging	Het
Pxmp4	A	G	2: 154,434,183 (GRCm39)	S93P	probably damaging	Het
Rfc4	T	C	16: 22,946,232 (GRCm39)	T17A	probably benign	Het
Rfx4	CTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCT	10: 84,694,351 (GRCm39)		probably benign	Het
Ryr3	G	T	2: 112,606,015 (GRCm39)	A2415E	probably damaging	Het
Sbp	ACAAAGATGCTGACAACAAAGATGCTGACA	ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA	17: 24,164,325 (GRCm39)		probably benign	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Sec63	C	A	10: 42,682,620 (GRCm39)	A437E	probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,783 (GRCm39)		probably benign	Het
Slco5a1	G	A	1: 12,942,171 (GRCm39)	T825I	probably damaging	Het
Spmap2l	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCGAG	5: 77,164,274 (GRCm39)		probably benign	Het
Stard8	GGA	GGAAGA	X: 98,110,123 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,711,927 (GRCm39)	V30A	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,083 (GRCm39)		probably benign	Het
Syne1	T	A	10: 5,196,386 (GRCm39)	D3882V	possibly damaging	Het
T	A	G	17: 8,660,540 (GRCm39)	T384A	probably benign	Het
Tbc1d12	CGGGGCGG	CG	19: 38,825,384 (GRCm39)		probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,968,816 (GRCm39)		probably benign	Het
Tcstv5	A	T	13: 120,411,582 (GRCm39)	V8E	probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,032 (GRCm39)		probably benign	Het
Thumpd3	C	T	6: 113,033,006 (GRCm39)	A248V	probably damaging	Het
Tlcd4	T	A	3: 121,022,533 (GRCm39)	I103L	probably benign	Het
Tmem181a	T	C	17: 6,330,978 (GRCm39)		probably null	Het
Trim41	A	T	11: 48,698,165 (GRCm39)	H600Q	probably damaging	Het
Ttbk2	A	T	2: 120,620,820 (GRCm39)	C147*	probably null	Het
Ttll2	C	T	17: 7,618,737 (GRCm39)	A397T	probably benign	Het
Unc79	T	A	12: 103,079,046 (GRCm39)	L1737Q	probably benign	Het
Usp47	T	A	7: 111,692,145 (GRCm39)	V869E	probably damaging	Het
Vmn1r231	T	A	17: 21,110,255 (GRCm39)	Q220L	probably damaging	Het
Vmn2r26	C	T	6: 124,016,448 (GRCm39)	T304I	possibly damaging	Het
Wrn	T	C	8: 33,778,793 (GRCm39)	N839S	probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCCAGG	GGCCCAGGAGCACGCCCAGG	6: 125,013,451 (GRCm39)		probably benign	Het
Zfyve26	C	T	12: 79,302,112 (GRCm39)	C1828Y	probably damaging	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
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
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'- TGCTCTCTAAGGTACAAGTAGAAC -3'
(R):5'- AAGAAGCAGCATCACCTGGG -3'

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

Posted On

2019-12-04