Incidental Mutation 'IGL02316:Scg2'
ID |
288039 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Scg2
|
Ensembl Gene |
ENSMUSG00000050711 |
Gene Name |
secretogranin II |
Synonyms |
SgII, Chgc |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02316
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
79412386-79417837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 79413398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 442
(L442V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049972]
[ENSMUST00000185234]
|
AlphaFold |
Q03517 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049972
AA Change: L442V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062556 Gene: ENSMUSG00000050711 AA Change: L442V
Domain | Start | End | E-Value | Type |
Pfam:Granin
|
27 |
614 |
7.2e-235 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185234
AA Change: L402V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139740 Gene: ENSMUSG00000050711 AA Change: L402V
Domain | Start | End | E-Value | Type |
Pfam:Granin
|
27 |
319 |
1.4e-123 |
PFAM |
Pfam:Granin
|
316 |
574 |
7.1e-91 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c13 |
G |
T |
13: 4,253,458 (GRCm39) |
|
probably benign |
Het |
Arhgap26 |
C |
T |
18: 38,775,599 (GRCm39) |
|
noncoding transcript |
Het |
Atp5f1b |
T |
C |
10: 127,920,178 (GRCm39) |
V108A |
probably benign |
Het |
B230307C23Rik |
G |
A |
16: 97,809,850 (GRCm39) |
V9M |
probably damaging |
Het |
Ccdc85c |
T |
A |
12: 108,177,829 (GRCm39) |
H321L |
probably damaging |
Het |
Diaph3 |
A |
T |
14: 87,223,551 (GRCm39) |
M321K |
possibly damaging |
Het |
Dicer1 |
G |
A |
12: 104,668,812 (GRCm39) |
A1290V |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,145,894 (GRCm39) |
T839M |
probably benign |
Het |
Eif3a |
G |
A |
19: 60,760,076 (GRCm39) |
|
probably benign |
Het |
Eml1 |
T |
C |
12: 108,501,018 (GRCm39) |
|
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,887,519 (GRCm39) |
Q769R |
probably damaging |
Het |
Fam184a |
T |
G |
10: 53,514,335 (GRCm39) |
T426P |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,809,137 (GRCm39) |
H1819N |
probably benign |
Het |
Gm6686 |
T |
A |
17: 15,786,500 (GRCm39) |
|
probably benign |
Het |
Hadha |
T |
C |
5: 30,331,565 (GRCm39) |
S464G |
probably benign |
Het |
Ighv5-17 |
A |
T |
12: 113,822,775 (GRCm39) |
C115* |
probably null |
Het |
Jmjd6 |
T |
C |
11: 116,733,928 (GRCm39) |
Y31C |
possibly damaging |
Het |
Klrb1-ps1 |
G |
A |
6: 129,093,532 (GRCm39) |
|
noncoding transcript |
Het |
Mgat1 |
T |
C |
11: 49,152,185 (GRCm39) |
Y223H |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,569,668 (GRCm39) |
S243P |
possibly damaging |
Het |
Numa1 |
T |
C |
7: 101,650,577 (GRCm39) |
L69P |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,879,744 (GRCm39) |
I2T |
probably benign |
Het |
Or1j21 |
A |
T |
2: 36,683,632 (GRCm39) |
H128L |
probably damaging |
Het |
Or1j4 |
C |
A |
2: 36,740,294 (GRCm39) |
P79T |
probably damaging |
Het |
Or4p23 |
A |
G |
2: 88,577,187 (GRCm39) |
F15S |
probably damaging |
Het |
Pde1c |
A |
T |
6: 56,128,336 (GRCm39) |
D332E |
possibly damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,162,835 (GRCm39) |
I1143V |
probably benign |
Het |
Rsl1 |
T |
A |
13: 67,325,120 (GRCm39) |
|
probably null |
Het |
Sez6l |
A |
T |
5: 112,610,828 (GRCm39) |
V530E |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,200,489 (GRCm39) |
I4655T |
possibly damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,808,272 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Scg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01347:Scg2
|
APN |
1 |
79,414,538 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02083:Scg2
|
APN |
1 |
79,413,941 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02338:Scg2
|
APN |
1 |
79,414,210 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0281:Scg2
|
UTSW |
1 |
79,413,229 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0384:Scg2
|
UTSW |
1 |
79,413,266 (GRCm39) |
missense |
probably benign |
0.42 |
R0501:Scg2
|
UTSW |
1 |
79,413,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R0909:Scg2
|
UTSW |
1 |
79,413,499 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1773:Scg2
|
UTSW |
1 |
79,413,352 (GRCm39) |
missense |
probably benign |
0.04 |
R2254:Scg2
|
UTSW |
1 |
79,414,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Scg2
|
UTSW |
1 |
79,414,574 (GRCm39) |
missense |
probably damaging |
0.97 |
R4076:Scg2
|
UTSW |
1 |
79,414,574 (GRCm39) |
missense |
probably damaging |
0.97 |
R4097:Scg2
|
UTSW |
1 |
79,413,538 (GRCm39) |
missense |
probably damaging |
0.99 |
R4560:Scg2
|
UTSW |
1 |
79,412,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R4621:Scg2
|
UTSW |
1 |
79,414,381 (GRCm39) |
missense |
probably benign |
0.08 |
R4876:Scg2
|
UTSW |
1 |
79,413,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4944:Scg2
|
UTSW |
1 |
79,414,193 (GRCm39) |
nonsense |
probably null |
|
R5829:Scg2
|
UTSW |
1 |
79,414,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R6158:Scg2
|
UTSW |
1 |
79,413,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R6248:Scg2
|
UTSW |
1 |
79,414,023 (GRCm39) |
missense |
probably benign |
0.29 |
R6365:Scg2
|
UTSW |
1 |
79,413,017 (GRCm39) |
missense |
probably benign |
|
R6459:Scg2
|
UTSW |
1 |
79,414,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R6676:Scg2
|
UTSW |
1 |
79,413,499 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6693:Scg2
|
UTSW |
1 |
79,413,737 (GRCm39) |
missense |
probably benign |
0.01 |
R7259:Scg2
|
UTSW |
1 |
79,414,702 (GRCm39) |
missense |
probably benign |
|
R7393:Scg2
|
UTSW |
1 |
79,412,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R7578:Scg2
|
UTSW |
1 |
79,414,612 (GRCm39) |
missense |
probably damaging |
0.99 |
R7608:Scg2
|
UTSW |
1 |
79,413,898 (GRCm39) |
missense |
probably benign |
0.00 |
R8166:Scg2
|
UTSW |
1 |
79,413,300 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8247:Scg2
|
UTSW |
1 |
79,414,236 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8296:Scg2
|
UTSW |
1 |
79,413,222 (GRCm39) |
missense |
probably benign |
0.13 |
R8308:Scg2
|
UTSW |
1 |
79,414,576 (GRCm39) |
missense |
probably benign |
0.18 |
R8789:Scg2
|
UTSW |
1 |
79,413,500 (GRCm39) |
missense |
probably benign |
0.05 |
R9252:Scg2
|
UTSW |
1 |
79,414,069 (GRCm39) |
missense |
probably damaging |
0.98 |
R9286:Scg2
|
UTSW |
1 |
79,413,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Scg2
|
UTSW |
1 |
79,412,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R9605:Scg2
|
UTSW |
1 |
79,412,936 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Scg2
|
UTSW |
1 |
79,414,506 (GRCm39) |
missense |
probably benign |
0.17 |
|
Posted On |
2015-04-16 |