Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Chga'

602576

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 #

RF002 (G1)

Quality Score

189.468

Status

Not validated

Chromosome

Chromosomal Location

102554969-102565028 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCA to GCACCA at 102561421 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: 99.9%
3x: 99.7%
10x: 99.4%
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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	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
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
RF054:Chga	UTSW	12	102561423	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'- CGTCTGCAAACACAAATGGATAG -3'

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

Posted On

2019-12-04