Mutagenetix > Incidental Mutation

Incidental Mutation 'R9139:Chga'

694230

Institutional Source

Beutler Lab

Gene Symbol

Chga

Ensembl Gene

ENSMUSG00000021194

Gene Name

chromogranin A

Synonyms

ChrA

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102521228-102531287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102528144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 212 (V212M)

Ref Sequence

ENSEMBL: ENSMUSP00000021610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021610]

AlphaFold

P26339

Predicted Effect

probably benign
Transcript: ENSMUST00000021610
AA Change: V212M

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021610
Gene: ENSMUSG00000021194
AA Change: V212M

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,320,705 (GRCm39)	V288A	possibly damaging	Het
Ankhd1	T	A	18: 36,711,810 (GRCm39)	S135R		Het
Axl	G	A	7: 25,460,846 (GRCm39)	T721I	probably damaging	Het
Blnk	G	A	19: 40,922,962 (GRCm39)	A388V	probably benign	Het
C8b	T	C	4: 104,641,631 (GRCm39)	V189A	probably damaging	Het
Ccdc33	G	C	9: 57,983,842 (GRCm39)	I452M	probably benign	Het
Cfap57	T	C	4: 118,412,048 (GRCm39)	T1199A	probably benign	Het
Cspp1	T	A	1: 10,186,875 (GRCm39)	M887K	probably damaging	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Cyp4f17	G	T	17: 32,743,868 (GRCm39)	E349*	probably null	Het
Dnajc13	A	T	9: 104,085,039 (GRCm39)	D791E	probably benign	Het
Dpysl5	T	C	5: 30,935,397 (GRCm39)	Y167H	probably benign	Het
Dqx1	G	T	6: 83,036,759 (GRCm39)	Q254H	possibly damaging	Het
Eef1g	A	G	19: 8,955,383 (GRCm39)	T411A	probably benign	Het
Fancl	C	A	11: 26,337,231 (GRCm39)	A6E	probably benign	Het
Gabrr3	A	G	16: 59,227,830 (GRCm39)	Q29R	probably benign	Het
Gtf2h2	A	C	13: 100,617,778 (GRCm39)	L168R	probably damaging	Het
Hacl1	T	A	14: 31,338,338 (GRCm39)	Q413L	probably benign	Het
Hdc	A	T	2: 126,439,837 (GRCm39)	V372E	probably damaging	Het
Hr	A	T	14: 70,795,079 (GRCm39)	H208L	possibly damaging	Het
Htr6	T	C	4: 138,789,501 (GRCm39)	R255G	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kank2	A	G	9: 21,681,370 (GRCm39)	V747A	probably damaging	Het
Kif5c	A	G	2: 49,620,291 (GRCm39)	T508A	probably benign	Het
Klhdc8b	A	G	9: 108,326,927 (GRCm39)	V145A	probably damaging	Het
Klk1b21	T	A	7: 43,754,924 (GRCm39)	V73D	probably damaging	Het
Ksr1	T	A	11: 78,911,572 (GRCm39)	M737L	probably benign	Het
Macf1	T	C	4: 123,328,564 (GRCm39)	Y4723C	probably damaging	Het
Mcm7	T	C	5: 138,167,397 (GRCm39)	Y182C	probably damaging	Het
Mtf2	T	C	5: 108,252,398 (GRCm39)		probably null	Het
Nrxn2	A	T	19: 6,498,299 (GRCm39)	T255S	probably benign	Het
Or10v9	A	G	19: 11,832,666 (GRCm39)	L217P	probably damaging	Het
Or10x4	A	T	1: 174,218,649 (GRCm39)	T5S	probably damaging	Het
Or11g25	T	C	14: 50,723,707 (GRCm39)	L264P	probably damaging	Het
Or2z2	T	A	11: 58,345,999 (GRCm39)	T259S	possibly damaging	Het
Or52k2	T	A	7: 102,254,185 (GRCm39)	I208N	probably damaging	Het
Or9m1	A	T	2: 87,733,108 (GRCm39)	M304K	probably benign	Het
Pamr1	T	A	2: 102,464,766 (GRCm39)	V305E	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg10	C	T	6: 4,757,128 (GRCm39)	T568M	unknown	Het
Polr3a	A	G	14: 24,519,416 (GRCm39)	F664S	probably damaging	Het
Prb1a	T	A	6: 132,185,306 (GRCm39)	N109I	unknown	Het
Prdm2	T	C	4: 142,858,752 (GRCm39)	I1513V	probably benign	Het
Prkd3	A	C	17: 79,269,969 (GRCm39)	V564G	possibly damaging	Het
Prss16	A	G	13: 22,192,513 (GRCm39)	S151P	probably damaging	Het
Rnf150	C	T	8: 83,590,588 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,038,261 (GRCm39)	T786A	probably benign	Het
Scin	A	G	12: 40,113,236 (GRCm39)	V645A	possibly damaging	Het
Slc25a20	T	A	9: 108,557,398 (GRCm39)	M177K	probably benign	Het
Slc2a6	G	A	2: 26,914,334 (GRCm39)	S261L	possibly damaging	Het
Slc4a7	A	T	14: 14,796,115 (GRCm38)	D1118V	probably damaging	Het
Slc7a2	T	C	8: 41,358,709 (GRCm39)	W351R	probably damaging	Het
Sp8	G	A	12: 118,812,174 (GRCm39)	G10S	probably damaging	Het
St8sia2	A	G	7: 73,616,513 (GRCm39)	I175T	probably damaging	Het
Tas2r122	T	A	6: 132,688,779 (GRCm39)	N38I	probably benign	Het
Trim31	C	T	17: 37,209,382 (GRCm39)	T46M	possibly damaging	Het
Trim31	A	G	17: 37,220,145 (GRCm39)	K354E	probably benign	Het
Trio	G	A	15: 27,749,922 (GRCm39)	Q2260*	probably null	Het
Trpm1	T	C	7: 63,848,943 (GRCm39)	I63T	probably benign	Het
Ugt2b37	T	C	5: 87,399,636 (GRCm39)	K291E	probably benign	Het
Usp54	T	C	14: 20,627,162 (GRCm39)	T499A	probably benign	Het
Vmn1r35	T	C	6: 66,655,933 (GRCm39)	I246V	probably benign	Het
Vmn2r6	A	G	3: 64,464,277 (GRCm39)	S186P	probably benign	Het
Vmn2r76	T	A	7: 85,879,170 (GRCm39)	M377L	probably benign	Het
Zeb2	A	C	2: 44,878,637 (GRCm39)	M1243R	possibly 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
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
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'- TTCTGACAAGGGACAACAGG -3'
(R):5'- CAGACACATCAGTTGAGGTCCC -3'

Sequencing Primer
(F):5'- CAACAGGATGGCTTTGAGGC -3'
(R):5'- ACATCAGTTGAGGTCCCTGTCC -3'

Posted On

2022-01-20