Incidental Mutation 'R7338:Chga'
| ID |
569661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chga
|
| Ensembl Gene |
ENSMUSG00000021194 |
| Gene Name |
chromogranin A |
| Synonyms |
ChrA |
| MMRRC Submission |
045428-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
102521228-102531287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102529100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 359
(S359I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021610]
|
| AlphaFold |
P26339 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021610
AA Change: S359I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021610
Gene: ENSMUSG00000021194
AA Change: S359I
| 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 |
|
| Meta Mutation Damage Score |
0.1301 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,106 (GRCm39) |
R166G |
probably damaging |
Het |
| Bcan |
T |
A |
3: 87,901,550 (GRCm39) |
E384V |
probably damaging |
Het |
| Bcl9l |
A |
G |
9: 44,420,005 (GRCm39) |
N1137S |
probably benign |
Het |
| Caprin1 |
A |
G |
2: 103,609,768 (GRCm39) |
L170S |
probably benign |
Het |
| Card6 |
C |
T |
15: 5,129,354 (GRCm39) |
E681K |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,447,243 (GRCm39) |
V248I |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,825,477 (GRCm39) |
H62Q |
probably damaging |
Het |
| Cd180 |
A |
C |
13: 102,842,936 (GRCm39) |
I661L |
probably benign |
Het |
| Cdk11b |
A |
G |
4: 155,732,008 (GRCm39) |
R473G |
unknown |
Het |
| Cep126 |
T |
C |
9: 8,099,799 (GRCm39) |
T912A |
possibly damaging |
Het |
| Chek2 |
T |
A |
5: 111,021,380 (GRCm39) |
V530E |
probably benign |
Het |
| Cnrip1 |
T |
C |
11: 17,004,657 (GRCm39) |
V69A |
probably damaging |
Het |
| Cyp2a5 |
A |
T |
7: 26,542,372 (GRCm39) |
Q458L |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,195,524 (GRCm39) |
T391S |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,199,036 (GRCm39) |
L794P |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,585,802 (GRCm39) |
T580A |
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,464,982 (GRCm39) |
I184L |
probably benign |
Het |
| Gabra1 |
C |
T |
11: 42,073,121 (GRCm39) |
G51S |
unknown |
Het |
| Gabrr3 |
C |
A |
16: 59,268,439 (GRCm39) |
L351I |
possibly damaging |
Het |
| Gbp7 |
A |
T |
3: 142,243,786 (GRCm39) |
N111I |
probably damaging |
Het |
| Gjd2 |
C |
T |
2: 113,841,583 (GRCm39) |
R298H |
probably damaging |
Het |
| Gm5930 |
T |
C |
14: 44,573,914 (GRCm39) |
Y141C |
probably damaging |
Het |
| Grin3a |
G |
T |
4: 49,771,238 (GRCm39) |
N511K |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,707,903 (GRCm39) |
D122G |
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,587,703 (GRCm39) |
T152I |
possibly damaging |
Het |
| Lrrc9 |
C |
T |
12: 72,510,305 (GRCm39) |
|
probably null |
Het |
| Med21 |
T |
A |
6: 146,544,082 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,634,952 (GRCm39) |
T523S |
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,605,073 (GRCm39) |
T1000I |
probably benign |
Het |
| Nherf2 |
T |
A |
17: 24,869,182 (GRCm39) |
|
probably benign |
Het |
| Nin |
T |
C |
12: 70,090,838 (GRCm39) |
D859G |
|
Het |
| Nip7 |
T |
G |
8: 107,783,916 (GRCm39) |
L52R |
possibly damaging |
Het |
| Or10d1c |
A |
G |
9: 38,893,816 (GRCm39) |
Y175H |
probably damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,726 (GRCm39) |
F94I |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,446 (GRCm39) |
V79E |
probably benign |
Het |
| Otop1 |
T |
A |
5: 38,457,547 (GRCm39) |
Y435* |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,264,381 (GRCm39) |
S174P |
probably benign |
Het |
| Pcsk7 |
G |
A |
9: 45,837,287 (GRCm39) |
R537Q |
probably benign |
Het |
| Podxl |
G |
A |
6: 31,505,941 (GRCm39) |
S34F |
unknown |
Het |
| Prr36 |
G |
A |
8: 4,266,212 (GRCm39) |
R113C |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,890,525 (GRCm39) |
I436V |
probably benign |
Het |
| Slc13a5 |
C |
T |
11: 72,157,310 (GRCm39) |
V28I |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,349,097 (GRCm39) |
D56V |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,885,858 (GRCm39) |
R2317W |
probably damaging |
Het |
| Stom |
T |
A |
2: 35,213,760 (GRCm39) |
|
probably null |
Het |
| Svs5 |
T |
C |
2: 164,174,728 (GRCm39) |
L8P |
possibly damaging |
Het |
| Tmem141 |
C |
A |
2: 25,511,626 (GRCm39) |
V39F |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,344,019 (GRCm39) |
L181P |
probably damaging |
Het |
| Tnni3 |
A |
G |
7: 4,524,379 (GRCm39) |
S40P |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,024,465 (GRCm39) |
I548V |
probably benign |
Het |
| Twf2 |
A |
G |
9: 106,081,138 (GRCm39) |
|
probably benign |
Het |
| Wnt5b |
C |
A |
6: 119,425,092 (GRCm39) |
|
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
| Yipf4 |
T |
G |
17: 74,796,771 (GRCm39) |
S21A |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,481,943 (GRCm39) |
M573T |
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 |
|
|
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 |
|
|
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'- TGGAAAGACAGAGGCTTCCG -3'
(R):5'- TTTCCTCAAAGTCACTTCGGG -3'
Sequencing Primer
(F):5'- AAGCTCTGCCGTCTGAAGG -3'
(R):5'- AAAGTCACTTCGGGCCTCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation